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Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013

Strong link between mortality and reduced innate immune responsiveness in critically ill patients

Investigators from 15 children's medical centers, including Nationwide Children's Hospital, observed and evaluated critically ill children with influenza to evaluate the relationships between levels of systemic inflammation, immune function and likelihood to die from the illness. The study appears in the January issue of Critical Care Medicine.

23 Jan 2013

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of brain tumors known as meningiomas, a finding that could lead to the first effective drug treatments for the tumors, report scientists from Dana-Farber Cancer Institute and the Broad Institute.

23 Jan 2013

Viewpoints: Looking back at landmark Roe V. Wade decision

Opinion writers reflect on the 40th anniversary of the Supreme Court decision regarding abortion.

23 Jan 2013

New targeted enzyme replacement therapy can treat X-linked myotubular myopathy

A collaborative research team including a Medical College of Wisconsin (MCW) pediatric neuropathologist successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy from 4s3 Bioscience.

23 Jan 2013

GORE DrySeal Sheath with hydrophilic coating now available in Europe

W. L. Gore & Associates (Gore) today introduced GORE DrySeal Sheath with hydrophilic coating in Europe. The new GORE DrySeal Sheath allows for easier insertion into and removal from blood vessels during endovascular repair procedures.

23 Jan 2013

Gene therapy does not slow or halt progression of cell loss in Leber congenital amaurosis

Independent clinical trials, including one conducted at the Scheie Eye Institute at the Perelman School of Medicine, have reported safety and efficacy for Leber congenital amaurosis (LCA), a congenital form of blindness caused by mutations in a gene (RPE65) required for recycling vitamin A in the retina. Inherited retinal degenerative diseases were previously considered untreatable and incurable.

23 Jan 2013

Exposure of human f-tal testicles to bisphenol A reduces testosterone production

Bisphenol A (BPA) is a chemical compound that is included in the composition of plastics and resins. It is used, for example, in the manufacture of food containers such as bottles and babies' feeding bottles. It is also found in the protective films used inside food and drink cans and on till receipts where it used as a discloser. Significant levels of BPA have also been found in human blood, urine, amniotic fluid and placentas.

23 Jan 2013

Covidien’s EverFlex stent with Entrust delivery system receives CE Mark

Covidien, a leading global provider of healthcare products, today announced CE Mark approval for its EverFlex Self-expanding Peripheral Stent with Entrust Delivery System.

23 Jan 2013

Study finds 70% increase in type 1 diabetes among very young Philadelphian children

Over the past two decades, the incidence of type 1 diabetes in very young children under age 5 has increased by 70 percent in the city of Philadelphia, according to research from a University of Pennsylvania School of Nursing researcher who currently maintains the only US registry of diabetes in children that has collected data continuously since 1985.

23 Jan 2013

Novel way to engineer specialized immune cells targeted by the AIDS virus

Researchers at the Stanford University School of Medicine have found a novel way to engineer key cells of the immune system so they remain resistant to infection with HIV, the virus that causes AIDS.

23 Jan 2013

SV Bio, Mayo Clinic partner on whole genome diagnostics and interpretation

Mayo Clinic and Silicon Valley Biosystems (SV Bio) today announced a strategic collaboration for whole genome diagnostics and interpretation at the Mayo Clinic Center for Individualized Medicine and Mayo Medical Laboratories.

23 Jan 2013

Single dose of seasonal flu vaccine is safe for egg allergic children

Egg allergic children, including those with a history of anaphylaxis to egg, can safely receive a single dose of the seasonal influenza vaccine, according to a new study from the University of Michigan.

23 Jan 2013

Roundup: Ariz. Gov. proposing hospital tax for Medicaid expansion as Nev. ponders options; Vt. hospitals form ACO

Ariz. Gov. Jan Brewer, who has become something of a conservative icon for her aggressive opposition to Mr. Obama's policies, surprised many Legislature watchers at her State of the State address last week by saying she wanted to expand the state's Medicaid program to include anyone who makes up to 133 percent of the federal poverty level, or $14,856 for an individual.

23 Jan 2013

Nationwide Children's to establish EC145 helicopter for neonatal and pediatric transports

Nationwide Children's Hospital is expanding their critical care transport services by establishing a fully dedicated helicopter for neonatal and pediatric transports.

23 Jan 2013

ParseCNV software can detect disease-causing copy number variations

A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.

22 Jan 2013

Pregnant women with hypertensive disorders more likely to develop end-stage renal disease

Women with hypertensive disorders in pregnancy are at higher risk of chronic kidney disease and end-stage renal disease compared with women without the disorders, according to a study in CMAJ (Canadian Medical Association Journal).

22 Jan 2013

CHLA, House Research Institute receive FDA approval to begin pediatric ABI clinical trial

L.A.-based House Research Institute and Children's Hospital Los Angeles announced today that the United States Food and Drug Administration (FDA) has given final approval to begin a clinical trial of an Auditory Brainstem Implant (ABI) procedure for children.

22 Jan 2013

Multiple vascular benefits in salt restriction

Restricting salt intake reverses vascular endothelial dysfunction in people with moderately increased blood pressure, shows a randomized study published in the Journal of the American College of Cardiology.

22 Jan 2013

Hospital-based home care can work for children with cancer

Hospital-based home care is a feasible alternative for children with cancer both regarding price and efficacy, show study findings.

22 Jan 2013

Hospital News and Research

Researchers pinpoint several inherited mutations in autism

Strong link between mortality and reduced innate immune responsiveness in critically ill patients

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Viewpoints: Looking back at landmark Roe V. Wade decision

New targeted enzyme replacement therapy can treat X-linked myotubular myopathy

GORE DrySeal Sheath with hydrophilic coating now available in Europe

Gene therapy does not slow or halt progression of cell loss in Leber congenital amaurosis

Exposure of human f-tal testicles to bisphenol A reduces testosterone production

Covidien’s EverFlex stent with Entrust delivery system receives CE Mark

Study finds 70% increase in type 1 diabetes among very young Philadelphian children

Novel way to engineer specialized immune cells targeted by the AIDS virus

SV Bio, Mayo Clinic partner on whole genome diagnostics and interpretation

Single dose of seasonal flu vaccine is safe for egg allergic children

Roundup: Ariz. Gov. proposing hospital tax for Medicaid expansion as Nev. ponders options; Vt. hospitals form ACO

Nationwide Children's to establish EC145 helicopter for neonatal and pediatric transports

ParseCNV software can detect disease-causing copy number variations

Pregnant women with hypertensive disorders more likely to develop end-stage renal disease

CHLA, House Research Institute receive FDA approval to begin pediatric ABI clinical trial

Multiple vascular benefits in salt restriction

Hospital-based home care can work for children with cancer

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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