Syndrome News and Research

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New treatment for Marfan syndrome works as well as beta blockers

A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine.

21 Nov 2014

Kidney disease patients can benefit from simple and structured exercise

Simple yet structured exercise can significantly improve kidney disease patients' quality of life as well as decrease their pain, according to a study appearing in an upcoming issue of the Clinical Journal of the American Society of Nephrology (CJASN).

21 Nov 2014

SRY protein alters specific gender-related tissue in males before birth

Case Western Reserve researchers have identified a protein mutation that alters specific gender-related tissue in males before birth and can contribute to the development of cancer as well as other less life-threatening challenges.

21 Nov 2014

Scientists identify how ADAR1 gene mutation can lead to diseases

Scientists have discovered how a gene mutation can lead to diseases that occur when the immune system attacks the body by mistake.

18 Nov 2014

Investigational treatment shows promise against Marfan syndrome

An investigational treatment for Marfan syndrome is as effective as the standard therapy at slowing enlargement of the aorta, the large artery of the heart that delivers blood to the body, new research shows. The findings indicate a second treatment option for Marfan patients, who are at high risk of sudden death from tears in the aorta.

18 Nov 2014

Researchers discover second protein associated with membranous nephropathy

An international team of researchers from France, Germany, and the US have identified a protein that turns a person's immune system against itself in a form of kidney disease called membranous nephropathy (MN). The new research was presented at ASN Kidney Week 2014 in Philadelphia and published online in the New England Journal of Medicine.

18 Nov 2014

Pros and cons of medical marijuana to be discussed at Queensland Epilepsy Symposium

The pros and cons of medical marijuana is a discussion focus at the fifth annual Queensland Epilepsy Symposium, Epilepsy – On the Horizon.

18 Nov 2014

Adding ezetimibe to statin therapy reduces cardiovascular events

More than a decade ago, researchers from Brigham and Women's Hospital demonstrated that a high dose statin, which lowered cholesterol further than a regular dose statin, provided better clinical outcomes. But questions remained about whether further reducing cholesterol would be even more effective in reducing cardiovascular-related events.

18 Nov 2014

UMMS scientists awarded $9.5 million grant to study Fragile X syndrome

The National Institutes of Health has awarded a $9.5 million grant to investigators at the University of Massachusetts Medical School to establish a Center for Collaborative Research in Fragile X, one of three centers designated by the NIH.

18 Nov 2014

New preclinical study shows RG-012 may provide therapeutic benefit for Alport syndrome patients

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, today announced that positive new preclinical data was presented on RG-012 for the treatment of renal dysfunction in Alport syndrome patients at the American Society of Nephrology's Kidney Week 2014 meeting being held November 11-16, 2014 in Philadelphia, PA.

18 Nov 2014

Study underlines critical role of Fragile X mental retardation protein in brain development

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by the absence or incorrect production of the protein FMRP (Fragile X Mental Retardation Protein).

17 Nov 2014

Using cardiac biomarkers to identify NSTEMI and ACS patients: an interview with Peter Mason

ACS is currently identified through the use of ECGs pre-hospital and the confirmed via a Troponin biomarker test once in the acute setting.

16 Nov 2014

Experts focus on key issues impeding delivery of cardiac care in resource-limited settings

Critical care is defined by life-threatening conditions, which require close evaluation, monitoring, and treatment by appropriately trained health professionals. Cardiovascular care bears these same requirements.

14 Nov 2014

Sleep disorders increase risk of motor vehicle accidents, poor health status among firefighters

Sleep disorders are independent risk factors for heart attacks and motor vehicle crashes, which are the two leading causes of death for firefighters in the United States.

14 Nov 2014

Denmark researchers calculate the real burden of foodborne infections

Campylobacter is the foodborne bacteria that contributes most to the burden of disease in Denmark. This is the finding of a study from the National Food Institute, Technical University of Denmark, which for the first time in Denmark ranks three foodborne bacteria according to the burden of disease they impose on society as a whole.

13 Nov 2014

Scientists receive NARSAD Distinguished Investigator Grants for mental health research

The Brain & Behavior Research Foundation today announced the award of NARSAD Distinguished Investigator Grants valued at $1.5 million to 15 scientists, who are full professors or the equivalent, conducting innovative projects in diverse areas of neurobiological and behavioral research.

13 Nov 2014

Schizophrenia symptom severity predicts atypical antipsychotic benefit

Atypical antipsychotic drugs benefit patients with acute schizophrenia across the full spectrum of symptom severity, as well as highly symptomatic patients with predominantly negative symptoms, suggests a meta-analysis published in JAMA Psychiatry.

12 Nov 2014

Metabolic syndrome screening in bipolar disorder warranted

The frequency of the metabolic syndrome in patients with bipolar disorder warrants systematic screening, say researchers, particularly among men, older patients and those receiving atypical antipsychotic treatment.

12 Nov 2014

Studies evaluate traditional management of heart attack patients after discharge from hospital

Beta-blockers have been a cornerstone in the treatment of heart attack survivors for more than a quarter of a century. However, many of the data predate contemporary medical therapy such as reperfusion, statins, and antiplatelet agents, and recent data have called the role of beta-blockers into question.

12 Nov 2014

UCSD researchers implicate new gene in idiopathic or non-syndromic autism

With the help of mouse models, induced pluripotent stem cells (iPSCs) and the "tooth fairy," researchers at the University of California, San Diego School of Medicine have implicated a new gene in idiopathic or non-syndromic autism. The gene is associated with Rett syndrome, a syndromic form of autism, suggesting that different types of autism spectrum disorder (ASD) may share similar molecular pathways.

11 Nov 2014

Syndrome News and Research

New treatment for Marfan syndrome works as well as beta blockers

Kidney disease patients can benefit from simple and structured exercise

SRY protein alters specific gender-related tissue in males before birth

Scientists identify how ADAR1 gene mutation can lead to diseases

Investigational treatment shows promise against Marfan syndrome

Researchers discover second protein associated with membranous nephropathy

Pros and cons of medical marijuana to be discussed at Queensland Epilepsy Symposium

Adding ezetimibe to statin therapy reduces cardiovascular events

UMMS scientists awarded $9.5 million grant to study Fragile X syndrome

New preclinical study shows RG-012 may provide therapeutic benefit for Alport syndrome patients

Study underlines critical role of Fragile X mental retardation protein in brain development

Using cardiac biomarkers to identify NSTEMI and ACS patients: an interview with Peter Mason

Experts focus on key issues impeding delivery of cardiac care in resource-limited settings

Sleep disorders increase risk of motor vehicle accidents, poor health status among firefighters

Denmark researchers calculate the real burden of foodborne infections

Scientists receive NARSAD Distinguished Investigator Grants for mental health research

Schizophrenia symptom severity predicts atypical antipsychotic benefit

Metabolic syndrome screening in bipolar disorder warranted

Studies evaluate traditional management of heart attack patients after discharge from hospital

UCSD researchers implicate new gene in idiopathic or non-syndromic autism

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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