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Is human immunodeficiency virus the major determinant of steatosis and hepatitis C virus of insulin resistance in virus-associated fatty liver disease?

Whereas HIV confers a higher risk of steatosis, VAFLD is associated with higher IR than NAFLD and such an effect is specifically linked to HCV rather than to HIV infection.

Do tumor necrosis factor-alpha and its inducer inhibit morphine-induced rewarding effects and sensitization?

These results suggest that TNF-alpha inhibits MOR-induced rewarding effect and sensitization by regulating extracellular dopamine levels, and Leu-Ile inhibits them via the induction of TNF-alpha.

Does multifactor dimensionality reduction reveal a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis?

We have identified statistically significant evidence for a three-way epistatic interaction that is associated with susceptibility to TB. This interaction is stronger than any previously described one-way or two-way associations. This study highlights the importance of using machine learning methods that are designed to embrace, rather than ignore, the complexity of common diseases such as TB. We recommend future studies of the genetics of TB take into account the possibility that high-order epistatic interactions might play an important role in disease susceptibility.

Does the ATM inhibitor KU55933 sensitize radioresistant bladder cancer cells with DAB2IP gene defect?

Loss of DAB2IP expression in BCa cells signifies their radioresistance. KU55933, which suppresses ATM phosphorylation upon irradiation, could be applied in the radiotherapy of BCa patients with a DAB2IP gene defect.

Is 7q11.23 duplication syndrome inherited ?

7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the chromosome with a duplicated segment from a parent.

Is osteoarthritis associated with symptoms of common mental disorders among former elite athletes?

OA might be a risk factor for developing symptoms of CMD in former elite athletes. The clinical relevance of this study is that an interdisciplinary approach to the clinical care and support of former elite athletes after their careers is advocated as the interaction between the physical and mental health issues occurring on the long term is complex. Monitoring OA among former elite athletes should be empowered while strategies to prevent symptoms worsening should be developed and implemented. The self-awareness, prevention and care of mental health problems that might occur after a professional sports career should also be addressed.

How many people are affected by GM3 synthase deficiency ?

GM3 synthase deficiency appears to be a rare condition. About 50 cases have been reported, mostly from Old Order Amish communities.

What are the treatments for Childhood Craniopharyngioma ?

Key Points - There are different types of treatment for children with craniopharyngioma. - Children with craniopharyngioma should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some treatments for tumors cause side effects months or years after treatment has ended. - Five types of treatment are used: - Surgery (resection) - Surgery and radiation therapy - Surgery with cyst drainage - Chemotherapy - Biologic therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. There are different types of treatment for children with craniopharyngioma. Different types of treatments are available for children with craniopharyngioma. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with tumors. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Because tumors in children are rare, taking part in a clinical trial should be considered. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate treatment is a decision that ideally involves the patient, family, and health care team. Children with craniopharyngioma should have their treatment planned by a team of health care providers who are experts in treating brain tumors in children. Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with tumors. The pediatric oncologist works with other pediatric healthcare providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Neurosurgeon. - Radiation oncologist. - Neurologist. - Endocrinologist. - Ophthalmologist. - Rehabilitation specialist. - Psychologist. - Social worker. - Nurse specialist. Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis and continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment. Some treatments for tumors cause side effects months or years after treatment has ended. Side effects from tumor treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of tumor treatment may include the following: - Physical problems such as seizures. - Behavior problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). The following serious physical problems may occur if the pituitary gland, hypothalamus, optic nerves, or carotid artery are affected during surgery or radiation therapy: - Obesity. - Metabolic syndrome, including fatty liver disease not caused by drinking alcohol. - Vision problems, including blindness. - Blood vessel problems or stroke. - Loss of the ability to make certain hormones. Some late effects may be treated or controlled. Life-long hormone replacement therapy with several medicines may be needed. It is important to talk with your child's doctors about the effects tumor treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). Five types of treatment are used: Surgery (resection) The way the surgery is done depends on the size of the tumor and where it is in the brain. It also depends on whether the tumor has grown into nearby tissue in a finger-like way and expected late effects after surgery. The types of surgery that may be used to remove all of the tumor that can be seen with the eye include the following: - Transsphenoidal surgery: A type of surgery in which the instruments are inserted into part of the brain by going through an incision (cut) made under the upper lip or at the bottom of the nose between the nostrils and then through the sphenoid bone (a butterfly-shaped bone at the base of the skull). - Craniotomy: Surgery to remove the tumor through an opening made in the skull. Sometimes all of the tumor that can be seen is removed in surgery and no further treatment is needed. At other times, it is hard to remove the tumor because it is growing into or pressing on nearby organs. If there is tumor remaining after the surgery, radiation therapy is usually given to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Surgery and radiation therapy Partial resection is used to treat some craniopharyngiomas. It is used to diagnose the tumor, remove fluid from a cyst, and relieve pressure on the optic nerves. If the tumor is near the pituitary gland or hypothalamus, it is not removed. This reduces the number of serious side effects after surgery. Partial resection is followed by radiation therapy. Radiation therapy is a tumor treatment that uses high-energy x-rays or other types of radiation to kill tumor cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the tumor. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the tumor. The way the radiation therapy is given depends on the type of tumor, whether the tumor is newly diagnosed or has come back, and where the tumor formed in the brain. External and internal radiation therapy are used to treat childhood craniopharyngioma. Because radiation therapy to the brain can affect growth and development in young children, ways of giving radiation therapy that have fewer side effects are being used. These include: - Stereotactic radiosurgery: For very small craniopharyngiomas at the base of the brain, stereotactic radiosurgery may be used. Stereotactic radiosurgery is a type of external radiation therapy. A rigid head frame is attached to the skull to keep the head still during the radiation treatment. A machine aims a single large dose of radiation directly at the tumor. This procedure does not involve surgery. It is also called stereotaxic radiosurgery, radiosurgery, and radiation surgery. - Intracavitary radiation therapy: Intracavitary radiation therapy is a type of internal radiation therapy that may be used in tumors that are part solid mass and part fluid-filled cyst. Radioactive material is placed inside the tumor. This type of radiation therapy causes less damage to the nearby hypothalamus and optic nerves. - Intensity-modulated proton therapy: A type of radiation therapy that uses streams of protons (tiny particles with a positive charge) to kill tumor cells. A computer is used to target the exact shape and location of the tumor with proton therapy. This type of 3-dimensional radiation therapy may cause less damage to healthy tissue in the brain and other parts of the body. Proton radiation is different from x-ray radiation. Surgery with cyst drainage Surgery may be done to drain tumors that are mostly fluid-filled cysts. This lowers pressure in the brain and relieves symptoms. A catheter (thin tube) is inserted into the cyst and a small container is placed under the skin. The fluid drains into the container and is later removed. Sometimes, after the cyst is drained, a drug is put through the catheter into the cyst. This causes the inside wall of the cyst to scar and stops the cyst from making fluid or increases the amount of the time it takes for the fluid to build up again. Surgery to remove the tumor may be done after the cyst is drained. Chemotherapy Chemotherapy is a treatment that uses anticancer drugs to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach tumor cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid or an organ, the drugs mainly affect tumor cells in those areas (regional chemotherapy). Intracavitary chemotherapy is a type of regional chemotherapy that places drugs directly into a cavity, such as a cyst. It is used for craniopharyngioma that has come back after treatment. Biologic therapy Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. For craniopharyngioma that has come back after treatment, the biologic therapy drug is placed inside the tumor using a catheter (intracavitary) or in a vein (intravenous). Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment. Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way diseases will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. Patients can enter clinical trials before, during, or after starting their treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients who have not improved. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's clinical trials database. Follow-up tests may be needed. Some of the tests that were done to diagnose the disease or decide how to treat it may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed. These tests are sometimes called follow-up tests or check-ups. After treatment, follow-up testing with MRI will be done for several years to check if the tumor has come back. Treatment Options for Childhood Craniopharyngioma Newly Diagnosed Childhood Craniopharyngioma Treatment of newly diagnosed childhood craniopharyngioma may include the following: - Surgery (resection) with or without radiation therapy. - Partial resection followed by radiation therapy. - Cyst drainage with or without radiation therapy or surgery. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website. Recurrent Childhood Craniopharyngioma Craniopharyngioma may recur (come back) no matter how it was treated the first time. Treatment options for recurrent childhood craniopharyngioma depend on the type of treatment that was given when the tumor was first diagnosed and the needs of the child. Treatment may include the following: - Surgery (resection). - External-beam radiation therapy. - Stereotactic radiosurgery. - Intracavitary radiation therapy. - Intracavitary chemotherapy or intracavitary biologic therapy. - Intravenous biologic therapy. - Cyst drainage. - A clinical trial of biologic therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with childhood craniopharyngioma. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your child's doctor about clinical trials that may be right for your child. General information about clinical trials is available from the NCI website.

How many people are affected by harlequin ichthyosis ?

Harlequin ichthyosis is very rare; its exact incidence is unknown.

What causes Erdheim-Chester disease ?

The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature.

Do topical corticosteroids reverse the antiviral effect of topical cidofovir in the Ad5-inoculated New Zealand rabbit ocular model?

These experimental data further support the clinical development of cidofovoir as a topical antiviral agent, but they do not support a treatment regimen that includes a combination of topical corticosteroids and topical cidofovir as a desirable strategy for the treatment of symptomatic adenoviral ocular infection.

How many people are affected by Costeff syndrome ?

Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have been described. Outside this population, only a few affected individuals have been identified.

Does maternal plasma from pregnant women with umbilical placental vascular disease affect endothelial cell mRNA expression of nitric oxide synthase?

Maternal plasma from pregnancies with umbilical placental vascular disease did not affect endothelial cell expression of nitric oxide synthase. This finding does not support a maternal origin for the factor demonstrated in fetal plasma. These results suggest separate pathogenic pathways for the endothelial cell activation seen in preeclampsia and fetal growth restriction associated with abnormal umbilical artery Doppler flow velocity waveforms. These findings are also consistent with the concept that the vascular pathology in the fetal placenta may be primary and that the uteroplacental circulation is reduced in response rather than acts as a constraint.

How many people are affected by Kleefstra syndrome ?

The prevalence of Kleefstra syndrome is unknown. Only recently has testing become available to distinguish it from other disorders with similar features.

How many people are affected by dihydropyrimidinase deficiency ?

Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few dozen affected individuals have been described in the medical literature.

Does association of serologic status for Neospora caninum and postweaning feed efficiency in beef steer?

Significant reductions in short-term weight gain and feed efficiency were associated with the presence of antibodies against N. caninum in postweaning beef steers.

Is youth screen-time behaviour associated with cardiovascular risk in young adulthood : the European Youth Heart Study?

Prolonged TV viewing and total screen time during leisure time in adolescence, and increases in these behaviours, are associated with unfavourable levels of several cardiovascular risk factors in young adulthood.

What are the treatments for Osteoporosis ?

A comprehensive osteoporosis treatment program includes a focus on proper nutrition, exercise, and safety issues to prevent falls that may result in fractures. In addition, your doctor may prescribe a medication to slow or stop bone loss, increase bone density, and reduce fracture risk. Nutrition. The foods we eat contain a variety of vitamins, minerals, and other important nutrients that help keep our bodies healthy. All of these nutrients are needed in balanced proportion. In particular, calcium and vitamin D are needed for strong bones and for your heart, muscles, and nerves to function properly. Exercise. Exercise is an important component of an osteoporosis prevention and treatment program. Exercise not only improves your bone health, but it increases muscle strength, coordination, and balance, and leads to better overall health. Although exercise is good for someone with osteoporosis, it should not put any sudden or excessive strain on your bones. As extra insurance against fractures, your doctor can recommend specific exercises to strengthen and support your back. Therapeutic medications. Several medications are available for the prevention and/or treatment of osteoporosis, including: bisphosphonates; estrogen agonists/antagonists (also called selective estrogen receptor modulators or SERMS); calcitonin; parathyroid hormone; estrogen therapy; hormone therapy; and a recently approved RANK ligand (RANKL) inhibitor. (Watch the video to learn how exercise helped a 70-year-old woman with osteoporosis. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)

What are the treatments for Parasites - Leishmaniasis ?

Before considering treatment, the first step is to make sure the diagnosis is correct. Treatment decisions should be individualized. Health care providers may consult CDC staff about the relative merits of various approaches. Examples of factors to consider include the form of leishmaniasis, the Leishmania species that caused it, the potential severity of the case, and the patient's underlying health. The skin sores of cutaneous leishmaniasis usually heal on their own, even without treatment. But this can take months or even years, and the sores can leave ugly scars. Another potential concern applies to some (not all) types of the parasite found in parts of Latin America: certain types might spread from the skin and cause sores in the mucous membranes of the nose (most common location), mouth, or throat (mucosal leishmaniasis). Mucosal leishmaniasis might not be noticed until years after the original sores healed. The best way to prevent mucosal leishmaniasis is to ensure adequate treatment of the cutaneous infection. If not treated, severe (advanced) cases of visceral leishmaniasis typically are fatal. More on: Resources for Health Professionals: Treatment

Is desmoid tumor inherited ?

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

Does cross-platform gene expression signature of human spermatogenic failure reveal inflammatory-like response?

A gene expression signature of human spermatogenic failure was revealed which comprised well-studied examples of inflammation-related genes also increased in other pathologies, including autoimmune diseases.

How many people are affected by ataxia with oculomotor apraxia ?

Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 individuals worldwide.

What are the treatments for Phacomatosis pigmentovascularis ?

If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-switched laser the appearance of pigmentary nevus. Medical treatment of PPV with systemic complications requires individualized plans and often assistance from a team of specialists (e.g., opthamologist, neurologist, and vascular specialist).

Do oxidative species increase arginase activity in endothelial cells through the RhoA/Rho kinase pathway?

Our data indicate that the oxidative species ONOO(-) and H(2) O(2) increase arginase activity/expression through PKC-mediated activation of RhoA/Rho kinase pathway.

Is multiple mitochondrial dysfunctions syndrome inherited ?

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

Is balloon dilation with adequate duration safer than sphincterotomy for extracting bile duct stones : a systematic review and meta-analyses?

Duration of EPBD is inversely associated with pancreatitis risk. Currently recommended ≤1-minute dilation actually increases pancreatitis. EPBD with adequate duration may be preferred over EST because of comparable pancreatitis but lower overall complication rates.

Do immune-enhancing enteral nutrients differentially modulate the early proinflammatory transcription factors mediating gut ischemia/reperfusion?

Arginine enhanced expression of the early proinflammatory transcription factor AP-1 but not NF-kappaB. This represents a novel mechanism by which arginine may be harmful when administered to critically ill patients.

How many people are affected by multiple epiphyseal dysplasia ?

The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. Both forms of this disorder may actually be more common because some people with mild symptoms are never diagnosed.

What are the treatments for Lupus ?

For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus.

Does prolonged exposure to acid and bile induce chromosome abnormalities that precede malignant transformation of benign Barrett 's epithelium?

Prolonged acid and bile exposure induced chromosomal aberrations and clonal selection in benign BAR-T cells. Since aneuploidy preceded morphological/dysplastic changes in the BEC model, chromosomal aberrations may be an early predictor of BE progression. The [t(10;16) and dup(11q)] aberrations identified in this study harbor several genes associated with cancer and may be responsible for neoplastic behavior of cells. After further validation, in-vivo, they may be clinically useful for diagnosis of BE, progressing to dysplasia/esophageal adenocarcinoma.

What is (are) Glucocorticoid-remediable aldosteronism ?

Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.

What are the treatments for Ehlers-Danlos syndrome ?

There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more specific information on the treatment of each subtype, please click on the links below: Hypermobility type Classic type Vascular type Kyphoscoliosis type Arthrochalasia type Dermatosparaxis type Please speak to your healthcare provider if you have any questions about your personal medical management plan.

What causes Congenital hepatic fibrosis ?

Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). FCDs can be inherited as autosomal recessive , autosomal dominant , or X-linked recessive disorders.

What is the outlook for Childhood Central Nervous System Germ Cell Tumors ?

Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - The type of germ cell tumor. - The type and level of any tumor markers. - Where the tumor is in the brain or in the spinal cord. - Whether the cancer has spread within the brain and spinal cord or to other parts of the body. - Whether the tumor is newly diagnosed or has recurred (come back) after treatment.

Does the brain renin-angiotensin system play a crucial role in regulating body weight in diet-induced obesity in rats?

The brain renin-angiotensin system affects body weight regulation, feeding behaviour and metabolic disorders. When angiotensin II levels are low in brain, rats are protected from developing diet-induced obesity and obesity-related metabolic impairments. We further suggest that telmisartan at least partly lowers body weight via a CNS-driven mechanism.

What is (are) Female Infertility ?

Infertility means not being able to get pregnant after at least one year of trying (or 6 months if the woman is over age 35). If a woman keeps having miscarriages, it is also called infertility. Female infertility can result from age, physical problems, hormone problems, and lifestyle or environmental factors. Most cases of infertility in women result from problems with producing eggs. In premature ovarian failure, the ovaries stop functioning before natural menopause. In polycystic ovary syndrome (PCOS), the ovaries may not release an egg regularly or they may not release a healthy egg. About a third of the time, infertility is because of a problem with the woman. One third of the time, it is a problem with the man. Sometimes no cause can be found. If you think you might be infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technologies. Happily, many couples treated for infertility are able to have babies. Dept. of Health and Human Services Office on Women's Health

How many people are affected by GLUT1 deficiency syndrome ?

GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms.

Do different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy?

These neurophysiologic findings indicate that epileptic myoclonus in LGS originates from a stable generator in the frontal cortex, to spread to contralateral and ipsilateral cortical areas, whereas myoclonus in MAE appears to be a primary generalized epileptic phenomenon.

Are activated lymphocytes and high liver expression of IFN-γ associated with fulminant hepatic failure in patients?

These findings indicate the involvement of NK and NKT cells as well as T lymphocytes CD4(+) and CD8(+) in the inflammatory process inducing FHF, confirmed by the high hepatic expression of IFN-γ.

Is hereditary sensory and autonomic neuropathy type IE inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Are diet-induced obesity and insulin resistance associated with brown fat degeneration in SIRT1-deficient mice?

Diet-induced obesity and insulin resistance are associated with BAT degeneration in SIRT1-deficient mice, which further underlined the beneficial role of SIRT1 in obesity-associated metabolic disorders.

What is (are) Generalized pustular psoriasis ?

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.

Does fearful imagery induce hyperventilation and dyspnea in medically unexplained dyspnea?

Fearful imagery provokes hyperventilation and induces subjective symptoms of dyspnea and palpitation in patients with medically unexplained dyspnea.

What is (are) fragile X-associated primary ovarian insufficiency ?

Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems. The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.

What are the symptoms of Neutropenia chronic familial ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clubbing of fingers - Gingivitis - Increased antibody level in blood - Neutropenia - Periodontitis - Premature loss of teeth - 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.

Do airway epithelial cells from asthmatic children differentially express proremodeling factors?

AECs from asthmatic children differentially express TGF-β2, VEGF, and periostin compared with cells from atopic nonasthmatic and healthy children. Nasal epithelial cells might be a suitable surrogate for bronchial cells that could facilitate investigation of the airway epithelium in future longitudinal pediatric studies.

How many people are affected by Perry syndrome ?

Perry syndrome is very rare; about 50 affected individuals have been reported worldwide.

Does interleukin-22 suppress the growth of A498 renal cell carcinoma cells via regulation of STAT1 pathway?

IL-22 dose-dependently suppresses RCC cell line A498 cells in vitro and induces growth inhibition of A498 cell-bearing mouse xenografts. These results suggest that the anti-RCC effects of IL-22 are at least partially mediated through regulation of STAT1 signaling pathways and G2/M cell cycle arrest, rather than by inducing apoptosis and inflammatory cytokines.

How many people are affected by lung cancer ?

In the United States, it is estimated that more than 221,000 people develop lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur in tobacco smokers. Approximately 6.6 percent of individuals will develop lung cancer during their lifetime. It is the leading cause of cancer deaths, accounting for an estimated 27 percent of all cancer deaths in the United States.

How to diagnose MTHFR gene mutation ?

Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following, coronary artery disease venous thromboembolism stroke heart attack peripheral artery disease aneurysm high blood pressure recurrent pregnancy loss However, the American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions. The College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Are specific haplotypes of the RET proto-oncogene over-represented in patients with sporadic papillary thyroid carcinoma?

Our data suggest that some variants of RET and some specific haplotypes may act as low penetrance alleles in the predisposition to PTC.

Are adult attachment insecurities associated with obsessive compulsive disorder?

Addressing attachment anxiety in individuals presenting with OCD may be important for enhancing therapeutic outcomes. However, findings are based on cross-sectional data that preclude conclusions relating to causal influence.

Is antinociceptive response to nitrous oxide mediated by supraspinal opiate and spinal alpha 2 adrenergic receptors in the rat?

These data suggest that both supraspinal opiate and spinal alpha 2 adrenoceptors play a mediating role in the antinociceptive response to N2O in rats. A possible mechanism may involve a descending inhibitory noradrenergic pathway that may be activated by opiate receptors in the periaqueductal gray region of the brain stem in the rat after exposure to N2O.

Is congenital cataracts, facial dysmorphism, and neuropathy inherited ?

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

Do mothers with positive or negative depression screens evaluate a maternal resource guide?

Mothers with PDS were more likely to report that the maternal resource guide would be personally helpful compared with mothers with NDS.

Is precise histological evaluation of liver biopsy specimen indispensable for diagnosis and treatment of acute-onset autoimmune hepatitis?

Histological examination of the liver is necessary for early diagnosis of acute-onset AIH. Moreover, we should evaluate liver biopsy specimens precisely and should be ready for a timely initiation of corticosteroid therapy to improve the prognosis.

Is tai Chi Chuan training associated with enhanced endothelium-dependent dilation in skin vasculature of healthy older men?

Regular practice of TCC is associated with enhanced endothelium-dependent dilation in skin vasculature of older individuals. Moreover, TCC training may delay the age-related decline of venous compliance and hyperemic arterial response.

Does association study suggest opposite effects of polymorphisms within IL8 on bronchial asthma and respiratory syncytial virus bronchiolitis?

This is the first study to describe association of IL-8 with asthma and a significant inverse distribution of the polymorphisms in juvenile idiopathic arthritis. In addition, the results of this study might suggest that RSV bronchiolitis and bronchial asthma have at least some different genetic factors.

How many people are affected by Moebius syndrome ?

The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns.

Does pirfenidone protect endotoxin-induced liver injury after hepatic ischemia in rats?

These results indicate that PFD prevents endotoxin-induced liver injury after hepatic ischemia-reperfusion, in part through the decrease of neutrophil infiltration to the liver.

Who is at risk for Gestational Trophoblastic Disease? ?

Age and a previous molar pregnancy affect the risk of GTD. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for GTD include the following: - Being pregnant when you are younger than 20 or older than 35 years of age. - Having a personal history of hydatidiform mole.

How many people are affected by X-linked lissencephaly with abnormal genitalia ?

The incidence of XLAG is unknown; approximately 30 affected families have been described in the medical literature.

What are the symptoms of Pulmonary venous return anomaly ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Anomalous pulmonary venous return 90% Respiratory insufficiency 7.5% Tapered distal phalanges of finger 5% Aplasia/Hypoplasia of the nails - Autosomal dominant inheritance - Pulmonary hypertension - Recurrent respiratory infections - Total anomalous pulmonary venous return - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the treatments for aspartylglucosaminuria ?

These resources address the diagnosis or management of aspartylglucosaminuria: - Genetic Testing Registry: Aspartylglycosaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

How to diagnose Imerslund-Grasbeck syndrome ?

The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.

What are the genetic changes related to 1p36 deletion syndrome ?

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.

Does toll-like receptor 3 mediate PROMININ-1 expressing cell expansion in biliary atresia via Transforming Growth Factor-Beta?

TLR3 activation induces myofibroblastic differentiation of PROM1+ HPC in part via TGFβ pathway activation to promote BA-associated biliary fibrosis.

Is Tracheoesophageal fistula inherited ?

In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). However, in most isolated cases, no specific genetic changes or environmental factors have been proven to cause the condition. When TEF occurs as a feature of a specific genetic syndrome or chromosome abnormality, it may follow the inheritance pattern and recurrence risk for the underlying condition. In these cases, it may be caused by changes in single genes or chromosomes, or it may be multifactorial.

What are the symptoms of Choroideremia ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Myopia 90% Nyctalopia 90% Visual impairment 90% Chorioretinal atrophy - Chorioretinal degeneration - Choroideremia - Constriction of peripheral visual field - Progressive visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Dry Eye ?

Dry eye symptoms may include any of the following. - stinging or burning of the eye - a sandy or gritty feeling as if something is in the eye - episodes of excess tears following very dry eye periods - a stringy discharge from the eye - pain and redness of the eye - episodes of blurred vision - heavy eyelids - inability to cry when emotionally stressed - uncomfortable contact lenses - decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time - eye fatigue. stinging or burning of the eye a sandy or gritty feeling as if something is in the eye episodes of excess tears following very dry eye periods a stringy discharge from the eye pain and redness of the eye episodes of blurred vision heavy eyelids inability to cry when emotionally stressed uncomfortable contact lenses decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time eye fatigue. If you have symptoms that you think could result from dry eye, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment.

What is (are) guanidinoacetate methyltransferase deficiency ?

Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.

What is (are) Coma ?

A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. . Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.

Do changes in DNA methylation over the growing season differ between North Carolina farmworkers and non-farmworkers?

We identified considerable changes in DNA methylation at 36 CpG sites over the growing season that differed between farmworkers and non-farmworkers. Dominant pathways included immune-related (HLA) processes, as well as a number of diverse biological systems. Further studies are necessary to determine which exposures or behaviors are responsible for the observed changes, and whether these changes eventually lead to disease-related phenotypes in this population.

Is [ The genetic polymorphism of HLA-DQA1 and HLA-DQB1 genes of Chinese Han population in Jiangsu area studied by PCR-sequence-based typing ]?

The distribution of HLA-DQ alleles and haplotypes in Jiangsu Han population shares some genetic characteristics with other population in northern of China, but has its own characteristics. The data will provide useful information for anthropology, organ transplantation and disease association studies.

Does elevated serum thymidine kinase 1 predict risk of pre/early cancerous progression?

Serological TK1 may be a reliable marker for risk assessment of pre/early cancerous progression.

How many people are affected by multiple endocrine neoplasia ?

Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, although the condition appears to be rare.

What is (are) methylmalonic acidemia with homocystinuria ?

Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age. When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). These infants can also have difficulty feeding and an abnormally pale appearance (pallor). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if not treated. When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, the signs and symptoms usually include psychiatric changes and cognitive problems. Affected individuals can exhibit changes in their behavior and personality; they may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and movement abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls.

How to diagnose Childhood Interstitial Lung Disease ?

Doctors diagnose childhood interstitial lung disease (chILD) based on a child's medical and family histories and the results from tests and procedures. To diagnose chILD, doctors may first need to rule out other diseases as the cause of a child's symptoms. Early diagnosis of chILD may help doctors stop or even reverse lung function problems. Often though, doctors find chILD hard to diagnose because: There are many types of the disease and a range of underlying causes The disease's signs and symptoms are the same as those for many other diseases The disease may coexist with other diseases Going to a pediatric pulmonologist who has experience with chILD is helpful. A pediatric pulmonologist is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions. Medical and Family Histories Your child's medical history can help his or her doctor diagnose chILD. The doctor may ask whether your child: Has severe breathing problems that occur often. Has had severe lung infections. Had serious lung problems as a newborn. Has been exposed to possible lung irritants in the environment, such as birds, molds, dusts, or chemicals. Has ever had radiation or chemotherapy treatment. Has an autoimmune disease, certain birth defects, or other medical conditions. (Autoimmune diseases occur if the body's immune system mistakenly attacks the bodys tissues and cells.) The doctor also may ask how old your child was when symptoms began, and whether other family members have or have had severe lung diseases. If they have, your child may have an inherited form of chILD. Diagnostic Tests and Procedures No single test can diagnose the many types of chILD. Thus, your child's doctor may recommend one or more of the following tests. For some of these tests, infants and young children may be given medicine to help them relax or sleep. A chest x ray. This painless test creates pictures of the structures inside your child's chest, such as the heart, lungs, and blood vessels. A chest x ray can help rule out other lung diseases as the cause of your child's symptoms. A high-resolution CT scan (HRCT). An HRCT scan uses x rays to create detailed pictures of your child's lungs. This test can show the location, extent, and severity of lung disease. Lung function tests. These tests measure how much air your child can breathe in and out, how fast he or she can breathe air out, and how well your child's lungs deliver oxygen to the blood. Lung function tests can assess the severity of lung disease. Infants and young children may need to have these tests at a center that has special equipment for children. Bronchoalveolar lavage (BRONG-ko-al-VE-o-lar lah-VAHZH). For this procedure, the doctor injects a small amount of saline (salt water) through a tube inserted in the child's lungs. The fluid helps bring up cells from the tissues around the air sacs. The doctor can then look at these cells under a microscope. This procedure can help detect an infection, lung injury, bleeding, aspiration, or an airway problem. Various tests to rule out conditions such as asthma, cystic fibrosis, acid reflux, heart disease, neuromuscular disease, and immune deficiency. Various tests for systemic diseases linked to chILD. Systemic diseases are diseases that involve many of the body's organs. Blood tests to check for inherited (genetic) diseases and disorders. If these tests don't provide enough information, your child's doctor may recommend a lung biopsy. A lung biopsy is the most reliable way to diagnose chILD and the specific disease involved. A lung biopsy is a surgical procedure that's done in a hospital. Before the biopsy, your child will receive medicine to make him or her sleep. During the biopsy, the doctor will take small samples of lung tissue from several places in your child's lungs. This often is done using video-assisted thoracoscopy (thor-ah-KOS-ko-pe). For this procedure, the doctor inserts a small tube with a light and camera (endoscope) into your child's chest through small cuts between the ribs. The endoscope provides a video image of the lungs and allows the doctor to collect tissue samples. After the biopsy, the doctor will look at these samples under a microscope.

Who is at risk for Pyelonephritis: Kidney Infection? ?

People most at risk for pyelonephritis are those who have a bladder infection and those with a structural, or anatomic, problem in the urinary tract. Urine normally flows only in one directionfrom the kidneys to the bladder. However, the flow of urine may be blocked in people with a structural defect of the urinary tract, a kidney stone, or an enlarged prostatethe walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen. Urine can also back up, or reflux, into one or both kidneys. This problem, which is called vesicoureteral reflux (VUR), happens when the valve mechanism that normally prevents backward flow of urine is not working properly. VUR is most commonly diagnosed during childhood. Pregnant women and people with diabetes or a weakened immune system are also at increased risk of pyelonephritis.

What causes What I need to know about Erectile Dysfunction ?

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.

What are the treatments for Crigler Najjar syndrome, type 2 ?

Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. Severely affected patients have been treated with plasmapheresis and even liver transplantation. These options may be most relevant for individuals with the more severe type I disease. In type II disease, much of the literature supports that long-term reduction in serum bilirubin levels can be achieved with continued administration of phenobarbital. We recommend that you continue to work closely with your primary health care provider in monitoring your bilirubin levels and the effectiveness of the prescribed therapy.

What is (are) Deep Vein Thrombosis ?

Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are - Warmth and tenderness over the vein - Pain or swelling in the part of the body affected - Skin redness Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.

What is (are) Camurati-Engelmann disease ?

Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.

What are the treatments for Li-Fraumeni syndrome ?

These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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

Do exosomes induce and reverse monocrotaline-induced pulmonary hypertension in mice?

These findings suggest that circulating or MSC-EXOs may modulate pulmonary hypertensive effects based on their miR cargo. The ability of MSC-EXOs to reverse MCT-PH offers a promising potential target for new PAH therapies.

Is proinflammatory genotype of interleukin-1 and interleukin-1 receptor antagonist associated with ESRD in proteinase 3-ANCA vasculitis patients?

Patients with a renal manifestation of PR3-ANCA vasculitis have an increased risk for developing end-stage renal disease when carrying the proinflammatory IL-1beta/IL-1ra genotype. Anti-inflammatory therapy specifically antagonizing the proinflammatory effect of IL-1beta may be a promising treatment for patients with Wegener's granulomatosis with renal manifestations.

Is a 40-50kDa Glycoprotein Associated with Mucus Identified as α-1-Acid Glycoprotein in Carcinoma of the Stomach?

AGP levels are increased in gastric tissue and in the plasma of those with carcinoma of the stomach.

What are the treatments for Hypochondroplasia ?

The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child. Developmental intervention and special education may be appropriate, if it is indicated in the affected individual. If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy. Decompression is a less invasive procedure. Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. To see the contact information for several support groups for hypochondroplasia, click here. Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.

What is (are) Protein C deficiency ?

Protein C deficiency is a disorder that increases a person's risk to develop abnormal blood clots. The condition can be mild or severe. People with mild protein C deficiency are at risk for a type of clot called deep vein thrombosis (DVT). A DVT can travel through the bloodstream and become stuck in the lung, which can cause a life-threatening pulmonary embolism. Most people with mild protein C deficiency never develop abnormal blood clots, but certain factors can increase the risk to develop a blood clot. In severe protein C deficiency, affected infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. This is characterized by blood clots that block normal blood flow and can lead to death of body tissues (necrosis). Abnormal bleeding can occur in various parts of the body causing purple patches on the skin. Protein C deficiency may be inherited or acquired. The inherited form is caused by mutations in the PROC gene and is inherited in an autosomal dominant manner. Most people with protein C deficiency do not have any symptoms and require no specific treatment. However, in situations of clot risk such as pregnancy, surgery or trauma, prevention treatment may be indicated. Patients with the severe form of the disease are treated depending on the symptoms. A protein C concentrate is effective in many cases. Liver transplant may cure the babies with this disease.

Is exposure to inhibitors of the renin-angiotensin system a major independent risk factor for acute renal failure induced by sucrose-containing intravenous immunoglobulins : a case-control study?

Temporary interruption of ACE-I and ARA may be considered at the time of IVIg infusion.

What are the symptoms of MYH7-related scapuloperoneal myopathy ?

The Human Phenotype Ontology provides the following list of signs and symptoms for MYH7-related scapuloperoneal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - EMG: myopathic abnormalities - Scapuloperoneal myopathy - Slow progression - Weakness of facial musculature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Crandall syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Pili torti 90% Sensorineural hearing impairment 90% Abnormality of the eye 50% Abnormality of the testis 50% Fine hair 50% Hypoplasia of penis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Do dispositional optimism and thoughts of well-being determine sensitivity to an experimental pain task?

Dispositional optimism is associated with reduced pain for healthy adults encountering a brief pain stimulus. This relationship is eliminated, however, when individuals are primed with thoughts of health and well-being. The results are interpreted as evidence for the use of differential coping strategies by optimists in response to pain.

Does the ginger component 6-shogaol prevent TNF-α-induced barrier loss via inhibition of PI3K/Akt and NF-κB signaling?

6-SG has barrier-protective effects by affecting TNF-α-induced claudin-2 upregulation and claudin-1 disassembly via inhibition of phoshatidylinositol-3-kinase/Akt and nuclear factor kappa light chain enhancer of activated B-cell signaling. Therefore, 6-SG-containing food might be beneficial for barrier preservation during intestinal inflammation.

Is high density of peritumoral lymphatic vessels a potential prognostic marker of endometrial carcinoma : a clinical immunohistochemical method study?

P-LVD may serve as a prognostic factor for endometrial carcinoma. The peritumoral lymphatics might play an important role in lymphatic vessel metastasis.

Are ninety-day mortality and major complications affected by use of lung allocation score?

Implementation of the LAS system has not been associated with an increase in early mortality, immediate PGD or major complications.

what research (or clinical trials) is being done for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?

New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. Some women receive a treatment called intraperitoneal radiation therapy, in which radioactive liquid is put directly in the abdomen through a catheter. Intraperitoneal radiation therapy is being studied to treat advanced ovarian cancer. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy. Vaccine therapy uses a substance to stimulate the immune system to destroy a tumor. Vaccine therapy is being studied to treat advanced ovarian cancer. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

Is Laing distal myopathy inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Do control of methicillin-resistant Staphylococcus aureus in a pediatric burn unit?

An MRSA control program including surveillance culturing, clinician feedback, flexible, site-specific isolation, and a list of known carriers is associated with a low rate of nosocomial MRSA in a pediatric burn unit.

What are the treatments for familial dilated cardiomyopathy ?

- Seattle Children's Hospital: Cardiomyopathy Treatment Options - The Sarcomeric Human Cardiomyopathies Registry (ShaRe) 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