June 16, 2010 A multi-institutional research team has found that rare variants in the gene coding an enzyme that controls the activity of a key immune cell occur more frequently in individuals with autoimmune disorders like rheumatoid arthritis and type 1 diabetes. Their report, which will appear in the journal Nature and is receiving early online release, identifies a pathway that could be a therapeutic target and may present a model for future investigations of the role of rare gene variants in common disorders.
June 16, 2010 A multi-institutional research team has found that rare variants in the gene coding an enzyme that controls the activity of a key immune cell occur more frequently in individuals with autoimmune disorders like rheumatoid arthritis and type 1 diabetes. Their report, which will appear in the journal Nature and is receiving early online release, identifies a pathway that could be a therapeutic target and may present a model for future investigations of the role of rare gene variants in common disorders.
"Pathways that involve rare disease-associated variants may point the way to therapies," explains Shiv Pillai, MD, PhD, of the MGH Center for Cancer Research, senior author of the Nature paper. "Our approach of identifying rare variants by detailed examination of the gene sequence, followed by in vitro functional studies and analysis of effects in patients, could be a template for future full-genome studies."
Earlier research conducted by Pillai's team, in collaboration with investigators at the University of California at San Diego, found that mice in which the gene for an enzyme called sialic acid acetylesterase (SIAE) was knocked out developed a condition similar to the autoimmune disease lupus. SIAE normally controls the activity of B cells, which produce antibodies after encountering and recognizing foreign antigens. Without the inhibiting action of SIAE, B cells that react against an individual's own "self" tissues could be released into circulation, possibly resulting in an autoimmune disease. The current study was designed to investigate whether SIAE defects have a role in human autoimmune disease.
Most studies searching for genetic contributions to common diseases have been genome-wide association studies (GWAS), which scan key markers across participants' genomes to find variations that are more frequent in those affected by a particular disorder. These scans have identified some common variants associated with conditions such as heart disease, cholesterol levels, type 2 diabetes, and some autoimmune disorders; but in general the contribution of these variants to disease susceptibility has been very small. GWAS approaches have not linked any variants in SIAE to human autoimmunity; however, since such studies do not scan each base pair in every gene, they cannot find variants that occur rarely in the general population but more frequently in affected individuals.
To more fully investigate the possible contribution of rare SIAE variants to human autoimmunity, the researchers completely scanned the protein-coding portions of the SIAE gene in blood samples from a total of 923 individuals with common autoimmune disorders and 648 control participants. Variants that interfered with either the activity or the secretion of the enzyme were found in 24 autoimmune participants and 2 of the controls, indicating that these changes were almost nine times more common in patients with autoimmune disease than in controls. One variant only prevented the secretion of SIAE if inherited from both parents, but the other 11 identified variants interfered with the enzyme's activity when only a single gene copy was altered.
"While loss-of-function variants in SIAE itself account for only about 2 or 3 percent of autoimmune cases, Pillai explains, "we are actively investigating other genes in this pathway that may be defective in a larger percentage of patients. We're also identifying subsets of patients with SIAE defects who may be candidates for several approaches to alleviate or even correct the defects." Pillai is an associate professor of Medicine at Harvard Medical School.
Provided by Massachusetts General Hospital (news : web)
http://www.physorg.com/news195911215.html
Tuesday, June 29, 2010
Women who consume large amounts of tea have increased risk of rheumatoid arthritis
Women who drink tea have an increased risk of developing Rheumatoid Arthritis (RA) compared with those who drink none (p=0.04), according to results presented today at EULAR 2010, the Annual Congress of the European League Against Rheumatism in Rome, Italy. Further results from the same study showed no correlation between the amount of coffee consumption and RA incidence (p=0.16).
Monday, June 28, 2010
Partners Grieve RA Diagnosis As Much As Patients
Partners grieve rheumatoid arthritis diagnosis as much as patients
June 18, 2010 Partners of patients newly diagnosed with rheumatoid arthritis (RA) are equally emotionally affected by the diagnosis and go through the same grieving process as the patients themselves, according to the results of a study presented today at EULAR 2010, the Annual Congress of the European League Against Rheumatism in Rome, Italy.
In a discrete UK study, investigators interviewed the partners of RA patients to assess their thoughts and feelings at the time of their partners RA diagnosis and the ways that they adapted to the diagnosis, over time. Analysing the transcripts of in-depth interviews, researchers reported that all partners of RA patients
reported common issues, grouped into the following areas:
•Emotions: Partners commonly expressed feelings of immense sadness for a perceived loss of the future, sadness for their experiences of their spouse, but also for themselves.
•Adaptation: Several of the partners interviewed hoped for a "cure" for RA with one saying "medicine can do anything nowadays, yes it's a problem but they'll give her a tablet and it will go away." Over time however, the interviews showed that partners came to terms with the permanency of the condition.
•Coping Strategies: Some partners reported experiencing feelings of denial, helplessness, and concealment of both the condition and its impact on their relationship.
•Support and Information: Whilst all partners interviewed were reluctant to attend patient support groups, they acknowledged their importance, with one participant stating "I think it would be really helpful to people who are newly diagnosed but I would have to have my arm twisted to go there".
"The results of our research have shown that partners of patients are as emotionally affected as the patient by the diagnosis," said Julie Taylor, University of the West of England, Bristol, United Kingdom and lead author of the study. "We recommend that, if clinicians and health care professional are able to offer support to the partners of patients at the time they require it, then this will create a foundation of greater support for the patients, resulting in improved emotional outcomes for both parties."
"Diagnosis with rheumatic conditions can have a devastating impact on family life," said Neil Betteridge, Vice President, PARE and Chief Executive Officer of Arthritis Care in the UK. "Many respondents to a recent survey conducted by Arthritis Care* tell us of a grieving process they've been through - for the loss of a world which so recently had been their biggest source of security. We encourage healthcare professionals to offer support and guidance to partners of those diagnosed with rheumatic conditions, in addition to the patient, in the hope of minimising the impact of diagnosis on patient's closest relationships."
Six spouses of patients diagnosed with RA at the North Bristol Health Care Trust with a minimum of three years since diagnosis were interviewed on a range of topics. Transcripts were subject to thematic analysis using the Hermaneutic phenomenological approach, a technique designed to give a descriptive interpretation of interview responses.
Provided by European League Against Rheumatism
June 18, 2010 Partners of patients newly diagnosed with rheumatoid arthritis (RA) are equally emotionally affected by the diagnosis and go through the same grieving process as the patients themselves, according to the results of a study presented today at EULAR 2010, the Annual Congress of the European League Against Rheumatism in Rome, Italy.
In a discrete UK study, investigators interviewed the partners of RA patients to assess their thoughts and feelings at the time of their partners RA diagnosis and the ways that they adapted to the diagnosis, over time. Analysing the transcripts of in-depth interviews, researchers reported that all partners of RA patients
reported common issues, grouped into the following areas:
•Emotions: Partners commonly expressed feelings of immense sadness for a perceived loss of the future, sadness for their experiences of their spouse, but also for themselves.
•Adaptation: Several of the partners interviewed hoped for a "cure" for RA with one saying "medicine can do anything nowadays, yes it's a problem but they'll give her a tablet and it will go away." Over time however, the interviews showed that partners came to terms with the permanency of the condition.
•Coping Strategies: Some partners reported experiencing feelings of denial, helplessness, and concealment of both the condition and its impact on their relationship.
•Support and Information: Whilst all partners interviewed were reluctant to attend patient support groups, they acknowledged their importance, with one participant stating "I think it would be really helpful to people who are newly diagnosed but I would have to have my arm twisted to go there".
"The results of our research have shown that partners of patients are as emotionally affected as the patient by the diagnosis," said Julie Taylor, University of the West of England, Bristol, United Kingdom and lead author of the study. "We recommend that, if clinicians and health care professional are able to offer support to the partners of patients at the time they require it, then this will create a foundation of greater support for the patients, resulting in improved emotional outcomes for both parties."
"Diagnosis with rheumatic conditions can have a devastating impact on family life," said Neil Betteridge, Vice President, PARE and Chief Executive Officer of Arthritis Care in the UK. "Many respondents to a recent survey conducted by Arthritis Care* tell us of a grieving process they've been through - for the loss of a world which so recently had been their biggest source of security. We encourage healthcare professionals to offer support and guidance to partners of those diagnosed with rheumatic conditions, in addition to the patient, in the hope of minimising the impact of diagnosis on patient's closest relationships."
Six spouses of patients diagnosed with RA at the North Bristol Health Care Trust with a minimum of three years since diagnosis were interviewed on a range of topics. Transcripts were subject to thematic analysis using the Hermaneutic phenomenological approach, a technique designed to give a descriptive interpretation of interview responses.
Provided by European League Against Rheumatism
Gabapentin May Treat Fibromyalgia Pain
U.S. scientists say the anticonvulsant medication gabapentin might be effective in treating pain and other symptoms arising from fibromyalgia.
Wednesday, June 23, 2010
Popular Antidepressnt Paxil Linked to Several Birth Defects
Popular Antidepressant PAXIL Linked to Several Birth Defects When Taken During Pregnancy
Heart Defects
Paxil has been linked to numerous birth defects. Heart defects including atrial and ventricular septal defects have been linked with Paxil use during the first trimester of pregnancy. According to two studies, women who took the antidepressant Paxil during their first trimester of pregnancy were one and a half to two times more likely to have a baby born with a heart defect than women on other antidepressants or women in the general population. These studies reported mostly atrial and ventricular septal defects, which are holes in heart's chamber walls. The right and left atria are separated from each other by a septum; one side contains oxygen-rich blood and the other oxygen-poor blood, and the septum keeps these chambers separate. A defect in the septum may need to be repaired surgically and can be life threatening.
Lung Disorder (PPHN) Linked to Paxil in Pregnancy
Studies have shown an increase in the risk of a lung disordered called Persistent Pulmonary Hypertension of the Newborn (PPHN) in babies whose mothers took Paxil during the second half of pregnancy. In utero, a baby does not need to use its lungs and therefore has a special fetal blood vessel, the ductus arteriosus, which carries blood from the pulmonary artery back to the heart, bypassing the lungs. In normal infants at birth, the ductus arteriosus closes as normal breathing begins, and oxygen-rich blood goes to the heart to be circulated throughout the body. However, in babies with Persistent Pulmonary Hypertension of the Newborn, the ductus arteriosus stays open. As a result, the blood bypasses the lungs, as before birth, and oxygen-poor blood circulates throughout the body to its organs. Signs of PPHN after birth include fast breathing and heart rate, blue skin, and problems breathing. PPHN is serious; infants may require mechanical breathing assistance. Some will die after birth and some will develop brain abnormalities and hearing problems.
Types of Birth Injuries
•Heart Defects
•Atrial and Ventricular Septal Defects
•Lung Disorder
•Persistent Pulmonary Hypertension of the Newborn
Paxil Warnings
Paxil is manufactured by GlaxoSmithKline and received FDA approval in 1992. It is a member of the class of antidepressants called selective serotonin reuptake inhibitors, or SSRIs. Many people believe the company was aware of Paxil's harmful effects on the fetus before any warnings were ever issued. In December 2005, the FDA advised that pregnant women not take Paxil (paroxetine) during their first trimester. In November 2006, ACOG (American College of Obstetricians and Gynecologists) recommended that pregnant women or those planning to become pregnant avoid taking Paxil. But thousands of women who took Paxil during pregnancy were not warned and their babies suffered as a result.
If you are one of the thousands of women who took Paxil (generic: paroxetine) while pregnant, you and your child have legal rights!
Heart Defects
Paxil has been linked to numerous birth defects. Heart defects including atrial and ventricular septal defects have been linked with Paxil use during the first trimester of pregnancy. According to two studies, women who took the antidepressant Paxil during their first trimester of pregnancy were one and a half to two times more likely to have a baby born with a heart defect than women on other antidepressants or women in the general population. These studies reported mostly atrial and ventricular septal defects, which are holes in heart's chamber walls. The right and left atria are separated from each other by a septum; one side contains oxygen-rich blood and the other oxygen-poor blood, and the septum keeps these chambers separate. A defect in the septum may need to be repaired surgically and can be life threatening.
Lung Disorder (PPHN) Linked to Paxil in Pregnancy
Studies have shown an increase in the risk of a lung disordered called Persistent Pulmonary Hypertension of the Newborn (PPHN) in babies whose mothers took Paxil during the second half of pregnancy. In utero, a baby does not need to use its lungs and therefore has a special fetal blood vessel, the ductus arteriosus, which carries blood from the pulmonary artery back to the heart, bypassing the lungs. In normal infants at birth, the ductus arteriosus closes as normal breathing begins, and oxygen-rich blood goes to the heart to be circulated throughout the body. However, in babies with Persistent Pulmonary Hypertension of the Newborn, the ductus arteriosus stays open. As a result, the blood bypasses the lungs, as before birth, and oxygen-poor blood circulates throughout the body to its organs. Signs of PPHN after birth include fast breathing and heart rate, blue skin, and problems breathing. PPHN is serious; infants may require mechanical breathing assistance. Some will die after birth and some will develop brain abnormalities and hearing problems.
Types of Birth Injuries
•Heart Defects
•Atrial and Ventricular Septal Defects
•Lung Disorder
•Persistent Pulmonary Hypertension of the Newborn
Paxil Warnings
Paxil is manufactured by GlaxoSmithKline and received FDA approval in 1992. It is a member of the class of antidepressants called selective serotonin reuptake inhibitors, or SSRIs. Many people believe the company was aware of Paxil's harmful effects on the fetus before any warnings were ever issued. In December 2005, the FDA advised that pregnant women not take Paxil (paroxetine) during their first trimester. In November 2006, ACOG (American College of Obstetricians and Gynecologists) recommended that pregnant women or those planning to become pregnant avoid taking Paxil. But thousands of women who took Paxil during pregnancy were not warned and their babies suffered as a result.
If you are one of the thousands of women who took Paxil (generic: paroxetine) while pregnant, you and your child have legal rights!
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