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- Hemorrhoids are swollen and inflamed veins around the anus or in the lower rectum. - Hemorrhoids are not dangerous or life threatening, and symptoms usually go away within a few days. - A thorough evaluation and proper diagnosis by a doctor is important any time a person notices bleeding from the rectum or blood in the stool. - Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. - If at-home treatments do not relieve symptoms, medical treatments may be needed.
The inheritance of IMAGe syndrome is complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered CDKN1C gene in each cell is sufficient to cause the disorder. However, because this gene is paternally imprinted, IMAGe syndrome results only when the mutation is present on the maternally inherited copy of the gene. When a mutation affects the paternally inherited copy of the CDKN1C gene, it does not cause health problems. Therefore, IMAGe syndrome is passed only from mothers to their children.
An arrhythmia can occur if the electrical signals that control the heartbeat are delayed or blocked. This can happen if the special nerve cells that produce electrical signals don't work properly. It also can happen if the electrical signals don't travel normally through the heart. An arrhythmia also can occur if another part of the heart starts to produce electrical signals. This adds to the signals from the special nerve cells and disrupts the normal heartbeat. Smoking, heavy alcohol use, use of some drugs (such as cocaine or amphetamines), use of some prescription or over-the-counter medicines, or too much caffeine or nicotine can lead to arrhythmias in some people. Strong emotional stress or anger can make the heart work harder, raise blood pressure, and release stress hormones. Sometimes these reactions can lead to arrhythmias. A heart attack or other condition that damages the heart's electrical system also can cause arrhythmias. Examples of such conditions include high blood pressure, coronary heart disease, heart failure, an overactive or underactive thyroid gland (too much or too little thyroid hormone produced), and rheumatic heart disease. Congenital (kon-JEN-ih-tal) heart defects can cause some arrhythmias, such as Wolff-Parkinson-White syndrome. The term "congenital means the defect is present at birth. Sometimes the cause of arrhythmias is unknown.
The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. Scientists at the NINDS are evaluating the effectiveness of 1-octanol, a substance similar to alcohol but less intoxicating, for treating essential tremor. Results of two previous NIH studies have shown this agent to be promising as a potential new treatment. Scientists are also studying the effectiveness of botulinum toxin as a treatment for a variety of involuntary movement disorders, including essential tremor of the hand.
These resources address the diagnosis or management of Snyder-Robinson syndrome: - Gene Review: Gene Review: Snyder-Robinson Syndrome - Genetic Testing Registry: Snyder Robinson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition worldwide. The largest single group of affected individuals (about 100 people) lives in an area of southern Ecuador.
There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small pump is implanted under the skin and is programmed to deliver a specific amount of medication on a regular basis), deep brain stimulation, and botulinum toxin injection.
Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mutations in the MEN1 gene, and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1. A mutation in the second copy of the MEN1 gene occurs in a small number of cells during a person's lifetime. Almost everyone who is born with one MEN1 mutation acquires a second mutation in certain cells, which can then divide in an unregulated way to form tumors. Multiple endocrine neoplasia type 2 and type 4 are also inherited in an autosomal dominant pattern. In these cases, one copy of the mutated gene is sufficient to cause the disorder. Affected individuals often inherit an altered RET or CDKN1B gene from one parent with the condition. Some cases, however, result from new mutations in the gene and occur in people without other affected family members.
Each year, 48 million people in the U.S. get sick from contaminated food. Common culprits include bacteria, parasites and viruses. Symptoms range from mild to serious. They include - Upset stomach - Abdominal cramps - Nausea and vomiting - Diarrhea - Fever - Dehydration Harmful bacteria are the most common cause of foodborne illness. Foods may have some bacteria on them when you buy them. Raw meat may become contaminated during slaughter. Fruits and vegetables may become contaminated when they are growing or when they are processed. But it can also happen in your kitchen if you leave food out for more than 2 hours at room temperature. Handling food safely can help prevent foodborne illnesses. The treatment in most cases is increasing your fluid intake. For more serious illness, you may need treatment at a hospital. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Huntington Disease - University of Washington Medical Center: Testing for Huntington Disease: Making an Informed Choice 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 molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group B - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group C 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
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.
Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.
Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders, such as bacteria and viruses, by making immune proteins called antibodies or by directly attacking infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system. The function of the adenosine deaminase enzyme is to eliminate a molecule called deoxyadenosine, which is generated when DNA is broken down. Adenosine deaminase converts deoxyadenosine, which can be toxic to lymphocytes, to another molecule called deoxyinosine that is not harmful. Mutations in the ADA gene reduce or eliminate the activity of adenosine deaminase and allow the buildup of deoxyadenosine to levels that are toxic to lymphocytes. Immature lymphocytes in the thymus are particularly vulnerable to a toxic buildup of deoxyadenosine. These cells die before they can mature to help fight infection. The number of lymphocytes in other lymphoid tissues is also greatly reduced. The loss of infection-fighting cells results in the signs and symptoms of SCID.
How is orofaciodigital syndrome type 2 inherited? Orofaciodigital syndrome type 2 is inherited in an autosomal recessive pattern, which means that an individual needs to inherit two mutated (changed) copies of the gene-one from each parent-in order to have the condition.
Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. The association between particular genes and a slight increase in the chance of developing HSP has not been proven.
The prognosis for those with Cushing's syndrome varies depending on the cause of the disease. Most cases of Cushing's syndrome can be cured. Many individuals with Cushing's syndrome show significant improvement with treatment, although some may find recovery complicated by various aspects of the causative illness. Some kinds of tumors may recur.
The NINDS supports research on brain and spinal cord disorders that can cause spasticity. The goals of this research are to increase scientific understanding about these disorders and to find ways to prevent, treat, and cure them.
MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women.
15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate mental retardation, learning difficulties, or normal intelligence; autism; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. It is caused by a tiny deletion (microdeletion) on the long arm of chromosome 15 that spans at least 6 genes; the features of the syndrome are caused by the absence of these genes, which are usually necessary for normal growth and development. It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion. Treatment typically focuses on individual signs and symptoms (such as medication for seizures) when possible.
What causes multifocal motor neuropathy? The exact underlying cause of multifocal motor neuropathy (MMN) is poorly understood. It is considered an immune-mediated disorder (due to an abnormal immune system response), both because IVIG therapy improves symptoms, and many patients have anti-GM1 antibodies. Research to further understand the cause of MMN is underway.
MRI imaging is often used to evaluate individuals with these symptoms, and can be used to diagnose the location of the tethering, lower than normal position of the conus medullaris, or presence of a tumor or fatty mass (lipoma). In children, early surgery is recommended to prevent further neurological deterioration. Regular follow-up is important: retethering may occur in some individuals during periods of rapid growth and may be seen between five to nine years of age. If surgery is not advisable, spinal cord nerve roots may be cut to relieve pain. In adults, surgery to free (detether) the spinal cord can reduce the size and further development of cysts in the cord and may restore some function or alleviate other symptoms. Other treatment is symptomatic and supportive.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Having a weakened immune system may increase the risk of developing primary CNS lymphoma. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Primary CNS lymphoma may occur in patients who have acquired immunodeficiency syndrome (AIDS) or other disorders of the immune system or who have had a kidney transplant. For more information about lymphoma in patients with AIDS, see the PDQ summary on AIDS-Related Lymphoma Treatment.
Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to uncontrolled cell growth and the formation of noncancerous and cancerous tumors. Researchers have not determined how FLCN mutations increase the risk of lung problems, such as pneumothorax.
These resources address the diagnosis or management of intestinal pseudo-obstruction: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked - Genetic Testing Registry: Natal teeth, intestinal pseudoobstruction and patent ductus - Genetic Testing Registry: Visceral myopathy familial with external ophthalmoplegia - Genetic Testing Registry: Visceral neuropathy familial - Genetic Testing Registry: Visceral neuropathy, familial, autosomal dominant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. For reasons that are unclear, females seem to be affected with juvenile idiopathic arthritis somewhat more frequently than males. However, in enthesitis-related juvenile idiopathic arthritis males are affected more often than females. The incidence of juvenile idiopathic arthritis varies across different populations and ethnic groups.
How might frontal fibrosing alopecia be treated? Unfortunately, there is currently no cure for frontal fibrosing alopecia (FFA). Because the hair loss associated with this condition is thought to be caused by inflammation of hair follicles, treatment often involves using anti-inflammatory medications or ointments, such as corticosteroids or hydroxychloroquine (brand name Plaquenil), to reduce inflammation and suppress the body's immune system. Medications that block the production of the male hormone 5-alpha reductase have been reported to stop further hair loss in some women. Researchers continue to question whether treatment is effective or if hair loss in FFA just stops naturally.
This condition occurs in an estimated 1 in 50,000 to 100,000 people.
The outlook for children with hydranencephaly is generally poor, and many children with this disorder die before age 1. However, in rare cases, children with hydranencephaly may survive for several years or more.
Having ED can cause you to feel depressed or anxious. ED may also cause low self-esteem. When you have ED, you may not have a satisfying sex life. You may not feel as close with your sexual partner, which may strain your relationship. See Your Doctor if You Have Erectile Dysfunction, as Erectile Dysfunction Could Mean You Have a More Serious Condition If you have problems getting or keeping an erection, and the problems last for more than a few weeks, you should talk with your doctor. ED can be a sign of other health problems, such as diabetes or heart disease. When you meet with your doctor, you might use phrases like, Ive been having problems in the bedroom or Ive been having erection problems. Remember that a healthy sex life is part of a healthy life. Dont be shy about seeking help. Your doctor treats medical problems every day. If talking with your doctor doesnt put you at ease, ask for a referral to another doctor. Your doctor may send you to a urologista doctor who specializes in sexual and urinary problems.
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown.
Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.
MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.
Summary : Most men need to pay more attention to their health. Compared to women, men are more likely to - Smoke and drink - Make unhealthy or risky choices - Put off regular checkups and medical care There are also health conditions that only affect men, such as prostate cancer and low testosterone. Many of the major health risks that men face - like colon cancer or heart disease - can be prevented and treated with early diagnosis. Screening tests can find diseases early, when they are easier to treat. It's important to get the screening tests you need.
Summary : Blood sugar, or glucose, is the main sugar found in your blood. It comes from the food you eat, and is your body's main source of energy. Your blood carries glucose to all of your body's cells to use for energy. Diabetes is a disease in which your blood sugar levels are too high. Over time, having too much glucose in your blood can cause serious problems. Even if you don't have diabetes, sometimes you may have problems with blood sugar that is too low or too high. Keeping a regular schedule of eating, activity, and taking any medicines you need can help. If you do have diabetes, it is very important to keep your blood sugar numbers in your target range. You may need to check your blood sugar several times each day. Your health care provider will also do a blood test called an A1C. It checks your average blood sugar level over the past three months. If your blood sugar is too high, you may need to take medicines and/or follow a special diet. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.
Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyl transferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. The bilirubin-UGT enzyme performs a chemical reaction called glucuronidation. During this reaction, the enzyme transfers a compound called glucuronic acid to unconjugated bilirubin, converting it to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the body. Mutations in the UGT1A1 gene that cause Crigler-Najjar syndrome result in reduced or absent function of the bilirubin-UGT enzyme. People with CN1 have no enzyme function, while people with CN2 have less than 20 percent of normal function. The loss of bilirubin-UGT function decreases glucuronidation of unconjugated bilirubin. This toxic substance then builds up in the body, causing unconjugated hyperbilirubinemia and jaundice.
Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis). Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses. In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet. Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.
Mutations in the VPS13B gene (frequently called the COH1 gene) cause Cohen syndrome. The function of the protein produced from the VPS13B gene is unknown; however, researchers suggest it may be involved in sorting and transporting proteins inside the cell. Most mutations in the VPS13B gene are believed to prevent cells from producing a functional VPS13B protein. It is unclear how loss of functional VPS13B protein leads to the signs and symptoms of Cohen 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.
What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve blood and oxygen flow. Medications may also include beta-blockers; however, in some individuals, beta-blockers may be harmful.
These resources address the diagnosis or management of OSMED: - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia 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
People with diabetes should - do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. - do activities to strengthen muscles and bone, such as sit-ups or lifting weights. Aim for two times a week. - stretch to increase flexibility, lower stress, and help prevent muscle soreness after physical activity. do aerobic activities, such as brisk walking, which use the bodys large muscles to make the heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. do activities to strengthen muscles and bone, such as sit-ups or lifting weights. Aim for two times a week. stretch to increase flexibility, lower stress, and help prevent muscle soreness after physical activity. Try to exercise almost every day for a total of about 30 minutes. If you haven't exercised lately, begin slowly. Start with 5 to 10 minutes, and then add more time. Or exercise for 10 minutes, three times a day. (Tip: you dont need to get your exercise in all at one time.) For more information on exercise and older adults, see Exercises To Try or visit Go4Life, the exercise and physical activity campaign from the National Institute on Aging. Always talk with a doctor before starting a new physical activity program.
The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not been identified. Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with adolescent idiopathic scoliosis have been identified.
How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids to help with mobility, such as wheelchairs, crutches and/or canes. Pachyonychia Congenita Project offers more detailed information regarding the treatment and management of PC. Please click on the link to access this resource.
Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors. Medical management is currently symptomatic and involves supportive care. Mechanical ventilation may be used to treat the underdevelopment of the lungs and breathing issues caused by the kidneys that are enlarged due to the numerous cysts. When the kidneys are severely enlarged, one or both kidneys may be removed (nephrectomy). Dialysis may be required during the first days of life if the infant is producing little urine (oliguria) or no urine (anuria). Low levels of sodium (hyponatremia) may occur and is treated with diuresis and/or sodium supplementation depending on the individual's specific levels. High blood pressure (hypertension) is treated with medication. Kidney failure requires dialysis, and kidney transplantation is another option. Poor eating and growth failure may be managed with gastrostomy tubes. Growth hormone therapy may be used to treat the growth failure and kidney insufficiency. Urinary tract infections are treated with antibiotics. Those with liver involvement may require shunt to treat the progressive high blood pressure and possibly liver transplantation.
Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, a "resetting" of the temperature of the body to a lower level has been suggested. Although different treatment options have been attempted in some patients, the treatments have been unsuccessful or of doubtful efficacy because of the small number of individuals that have been documented as having this condition.
Chronic neutrophilic leukemia is a disease in which too many blood stem cells become a type of white blood cell called neutrophils. Neutrophils are infection -fighting blood cells that surround and destroy dead cells and foreign substances (such as bacteria). The spleen and liver may swell because of the extra neutrophils. Chronic neutrophilic leukemia may stay the same or it may progress quickly to acute leukemia.
Anyone can get a foodborne illness. However, some people are more likely to develop foodborne illnesses than others, including - infants and children - pregnant women and their fetuses - older adults - people with weak immune systems These groups also have a greater risk of developing severe symptoms or complications of foodborne illnesses.
These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood Institute: How Is Antiphospholipid Antibody Syndrome 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
Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). These clusters are critical for the function of many different proteins, including those needed for DNA repair and the regulation of iron levels. Proteins containing Fe-S clusters are also necessary for energy production within mitochondria, which are the cell structures that convert the energy from food into a form that cells can use. Mutations in the ISCU gene severely limit the amount of iron-sulfur cluster assembly enzyme that is made in cells. A shortage of this enzyme prevents the normal production of proteins that contain Fe-S clusters, which disrupts a variety of cellular activities. A reduction in the amount of iron-sulfur cluster assembly enzyme is particularly damaging to skeletal muscle cells. Within the mitochondria of these cells, a lack of this enzyme causes problems with energy production and an overload of iron. These defects lead to exercise intolerance and the other features of myopathy with deficiency of iron-sulfur cluster assembly enzyme.
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development.
These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates 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
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1 syndrome. These cysts typically develop in childhood, but do not usually cause any health problems. Women with DICER1 syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries. DICER1 syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion. Affected members in the same family can be very differently affected.
Age-related macular degeneration, or AMD, is a disease that blurs the sharp, central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. AMD causes no pain.
Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present. Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons. Currarino triad is most often caused by mutations in the MNX1 gene. Treatment depends on the type and severity of abnormalities present, but may involve surgery.
What causes spastic diplegia cerebral palsy? Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). In many cases, the exact underlying cause is unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; injury before, during or shortly after birth; problems with blood flow to the brain; and severe lack of oxygen to the brain. The following medical conditions or events may increase the risk for a child to be born with or develop cerebral palsy: Premature birth Low birth weight (less than 5 and a half pounds) Mothers with infections or high fevers during pregnancy Multiple births (twins, triplets and other multiples) Rh incompatibility (blood type incompatibility between mother and child) Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures Breech presentation Complicated labor and delivery Low Apgar score Newborn jaundice
Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.
These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans 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
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of the arms and legs, and the bones in the hands and feet, are shorter than would be expected for the individual's height. Other skeletal features that occur in this disorder include slowed mineralization of bone (delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most affected individuals have few limitations in their activities. Children with acromicric dysplasia may have a round face, sharply defined eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space between the nose and upper lip (philtrum), and a small mouth with thick lips. These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy is generally normal.
These resources address the diagnosis or management of chordoma: - Chordoma Foundation: Treatment - Duke Spine Center - Genetic Testing Registry: Chordoma - Massachusetts General Hospital 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 Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. About 45,000 men and 17,000 women are diagnosed with bladder cancer each year.
Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page.
Mutations in the VCP gene cause IBMPFD. The VCP gene provides instructions for making an enzyme called valosin-containing protein, which has a wide variety of functions within cells. One of its most critical jobs is to help break down (degrade) proteins that are abnormal or no longer needed. Mutations in the VCP gene alter the structure of valosin-containing protein, disrupting its ability to break down other proteins. As a result, excess and abnormal proteins may build up in muscle, bone, and brain cells. The proteins form clumps that interfere with the normal functions of these cells. It remains unclear how damage to muscle, bone, and brain cells leads to the specific features of IBMPFD.
Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes. The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt. Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome. In some people with Bartter syndrome, the genetic cause of the disorder is unknown. Researchers are searching for additional genes that may be associated with this condition.
Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. It can smash into land with waves as high as 100 feet or more and cause devastating floods. Drowning is the most common cause of death related to a tsunami. Although there are no guarantees of safety during a tsunami, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency
Most children hear and listen from the moment they are born. They learn to talk by imitating the sounds around them and the voices of their parents and caregivers. But about 2 or 3 out of every 1,000 children in the United States are born deaf or hard-of-hearing. More lose their hearing later during childhood. Babies should have a hearing screening before they are a month old. If your child has a hearing loss, it is important to consider the use of hearing devices and other communication options by age 6 months. That's because children start learning speech and language long before they talk. Hearing problems can be temporary or permanent. Sometimes, ear infections, injuries or diseases affect hearing. If your child does not hear well, get help. NIH: National Institute on Deafness and Other Communication Disorders
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).
Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep. People with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma. Neurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time. Neurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.
These resources address the diagnosis or management of microvillus inclusion disease: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Congenital microvillous atrophy - Great Ormond Street Hospital for Children (UK): Intestinal Assessment - International Microvillus Inclusion Disease Patient Registry 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
Summary : Impaired driving is dangerous. It's the cause of more than half of all car crashes. It means operating a motor vehicle while you are affected by - Alcohol - Legal or illegal drugs - Sleepiness - Distractions, such as using a cell phone or texting - Having a medical condition which affects your driving For your safety and the safety of others, do not drive while impaired. Have someone else drive you or take public transportation when you cannot drive. If you need to take a call or send a text message, pull over. National Highway Traffic Safety Administration
The exact prevalence of dyskeratosis congenita is unknown. It is estimated to occur in approximately 1 in 1 million people.
Is cold urticaria inherited? Cold urticaria is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.
There is no standard specific treatment for the disease. Patients receive supportive therapy, which consists of balancing the patient’s fluid and electrolytes, maintaining oxygen status and blood pressure, and treatment for any complications. Mortality in hospitalized patients ranges from 1-20%.
The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature.
Diabetes is a disorder of metabolismthe way our bodies use digested food for energy. Most of the food we eat is broken down into glucose, the form of sugar in the blood. Glucose is the body's main source of fuel. After digestion, glucose enters the bloodstream. Then glucose goes to cells throughout the body where it is used for energy. However, a hormone called insulin must be present to allow glucose to enter the cells. Insulin is a hormone produced by the pancreas, a large gland behind the stomach. In people who do not have diabetes, the pancreas automatically produces the right amount of insulin to move glucose from blood into the cells. However, diabetes develops when the pancreas does not make enough insulin, or the cells in the muscles, liver, and fat do not use insulin properly, or both. As a result, the amount of glucose in the blood increases while the cells are starved of energy. Over time, high blood glucose levels damage nerves and blood vessels, leading to complications such as heart disease and stroke, the leading causes of death among people with diabetes. Uncontrolled diabetes can eventually lead to other health problems as well, such as vision loss, kidney failure, and amputations.
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual). Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.
Some people may be more likely than others to have palpitations. People at increased risk include those who: Have anxiety or panic attacks, or people who are highly stressed Take certain medicines or stimulants Have certain medical conditions that aren't related to heart problems, such as an overactive thyroid Have certain heart problems, such as arrhythmias (irregular heartbeats), a previous heart attack, heart failure, heart valve disease, or heart muscle disease Women who are pregnant, menstruating, or perimenopausal also may be at higher risk for palpitations because of hormonal changes. Some palpitations that occur during pregnancy may be due to anemia. For more information about these risk factors, go to "What Causes Palpitations?"
What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigue Shortness of breath Nausea and vomiting Enlarged liver or spleen Peripheral neuropathy Skin abnormalities such as rashes and/or pemphigus Less commonly (<10% of cases), people affected by MCD will have no signs or symptoms of the condition. Other conditions associated with MCD include amyloidosis, POEMS syndrome, autoimmune disease, hemolytic anemia, and immune thrombocytopenic purpura (ITP).
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.
Smoking is the main risk factor for P.A.D. Your risk of P.A.D. increases four times if you smoke. Smoking also raises your risk for other diseases, such as coronary heart disease (CHD). On average, smokers who develop P.A.D. have symptoms 10 years earlier than nonsmokers who develop P.A.D. As you get older, your risk for P.A.D. increases, usually starting in your fifties. Older age combined with other risk factors, such as smoking or diabetes, also puts you at higher risk. African American men and women have a greater risk of developing P.A.D. than Caucasians. Your risk for P.A.D. is higher if you have diabetes, high cholesterol, high blood pressure, heart disease, or have had a stroke. A family history of these conditions also makes P.A.D. more likely.
Triosephosphate isomerase deficiency is likely a rare condition; approximately 40 cases have been reported in the scientific literature.
How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced. Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children. One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss. Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment.
These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The most common symptoms of autoimmune hepatitis are - fatigue - joint pain - nausea - loss of appetite - pain or discomfort over the liver - skin rashes - dark yellow urine - light-colored stools - jaundice, or yellowing of the skin and whites of the eyes Symptoms of autoimmune hepatitis range from mild to severe. Some people may feel as if they have a mild case of the flu. Others may have no symptoms when a health care provider diagnoses the disease; however, they can develop symptoms later.
Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported.
These resources address the diagnosis or management of hepatic lipase deficiency: - Genetic Testing Registry: Hepatic lipase deficiency - MedlinePlus Encyclopedia: Cholesterol Testing and Results - MedlinePlus Encyclopedia: Triglyceride 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
The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia.
Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used: - Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. - Skin biopsy : All or part of the abnormal-looking growth is cut from the skin and viewed under a microscope by a pathologist to check for signs of cancer. There are four main types of skin biopsies: - Shave biopsy : A sterile razor blade is used to shave-off the abnormal-looking growth. - Punch biopsy : A special instrument called a punch or a trephine is used to remove a circle of tissue from the abnormal-looking growth. - Incisional biopsy : A scalpel is used to remove part of a growth. - Excisional biopsy : A scalpel is used to remove the entire growth.
Summary : Many factors affect your health. Some you cannot control, such as your genetic makeup or your age. But you can make changes to your lifestyle. By taking steps toward healthy living, you can help reduce your risk of heart disease, cancer, stroke and other serious diseases: - Get the screening tests you need - Maintain a healthy weight - Eat a variety of healthy foods, and limit calories and saturated fat - Be physically active - Control your blood pressure and cholesterol - Don't smoke - Protect yourself from too much sun - Drink alcohol in moderation, or don't drink at all Agency for Healthcare Research and Quality
If you are pregnant, an infection can be more than just a problem for you. Some infections can be dangerous to your baby. You can help yourself avoid infections: - Don't eat raw or undercooked meat - Don't share food or drinks with other people - Wash your hands frequently - Don't empty cat litter. Cats can transmit toxoplasmosis. You may need to take medicines or get a vaccine to prevent an infection in your baby. For example, you may need to take antibiotics if you develop an infection with group B strep, or take medicines if you have genital herpes. Only some medicines and vaccines are safe during pregnancy. Ask your health care provider about how best to protect you and your baby.
Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome. Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else.
Mutations in the ANTXR2 gene (also known as the CMG2 gene) cause juvenile hyaline fibromatosis. The ANTXR2 gene provides instructions for making a protein involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The signs and symptoms of juvenile hyaline fibromatosis are caused by the accumulation of a clear (hyaline) substance in different parts of the body. The nature of this substance is not well known, but it is likely made up of protein and sugar molecules. Researchers suspect that mutations in the ANTXR2 gene disrupt the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues.
Summary : Shots may hurt a little, but the diseases they can prevent are a lot worse. Some are even life-threatening. Immunization shots, or vaccinations, are essential. They protect against things like measles, mumps, rubella, hepatitis B, polio, tetanus, diphtheria, and pertussis (whooping cough). Immunizations are important for adults as well as children. Your immune system helps your body fight germs by producing substances to combat them. Once it does, the immune system "remembers" the germ and can fight it again. Vaccines contain germs that have been killed or weakened. When given to a healthy person, the vaccine triggers the immune system to respond and thus build immunity. Before vaccines, people became immune only by actually getting a disease and surviving it. Immunizations are an easier and less risky way to become immune. NIH: National Institute of Allergy and Infectious Diseases
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system. The mutations that cause the SBBYS variant of Ohdo syndrome likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. Studies suggest that the resulting shortage of this enzyme impairs the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of the condition.
These resources address the diagnosis or management of genitopatellar syndrome: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Genitopatellar syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

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