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Vol. LXVI, No. 8
April 11, 2014

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Disorganized Cortical Patches Suggest Prenatal Origin of Autism

The architecture of the autistic brain is speckled with patches of abnormal neurons, according to research partially funded by NIMH. Published in the New England Journal of Medicine on Mar. 27, the study suggests that brain irregularities in children with autism can be traced back to prenatal development.

“While autism is generally considered a developmental brain disorder, research has not identified a consistent or causative lesion,” said NIMH director Dr. Thomas Insel. “If this new report of disorganized architecture in the brains of some children with autism is replicated, we can presume this reflects a process occurring long before birth. This reinforces the importance of early identification and intervention.”

Dr. Eric Courchesne and Dr. Rich Stoner of the Autism Center of Excellence at the University of California, San Diego, joined colleagues from the Allen Institute for Brain Science to investigate the cellular architecture of the brain’s outermost structure, the cortex, in children with autism. Courchesne recently reported an overabundance of neurons in the prefrontal cortex of children with autism. For the current study, the researchers analyzed gene expression in postmortem brain tissue from children with and without autism, all between 2 and 15 years of age.

Researchers Discover Underlying Genetics, Marker for Stroke, Cardiovascular Disease

Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and have also uncovered new details about an important metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and cardiovascular disease and may also help lead to new treatment strategies.

“Our findings have the potential to identify new targets in the prevention and treatment of stroke, cardiovascular disease and many other common diseases,” said Dr. Stephen R. Williams at the University of Virginia Cardiovascular Research Center.

Williams and his team reported their findings Mar. 20 in PLoS Genetics. The investigators were supported by NHGRI’s Genomics and Randomized Trials Network (GARNET) program.

Stroke is the fourth leading cause of death and a major cause of adult disability in this country, yet its underlying genetics have been difficult to understand. Numerous genetic and environmental factors can contribute to a person having a stroke. The researchers focused on one particular biochemical pathway called the folate one-carbon metabolism pathway.

Contacts Better Than Permanent Lenses for Babies After Cataract Surgery

Child wearing a contact lens. A green dye is used to evaluate the fit of hard lenses.

Child wearing a contact lens. A green dye is used to evaluate the fit of hard lenses.

Photo: Scott Lambert, Emory

For adults and children who undergo cataract surgery, implantation of an artificial lens is the standard of care. But a clinical trial funded in part by NEI suggests that for most infants, surgery followed by the use of contact lenses for several years—and an eventual lens implant—may be the better solution.

A cataract is a clouding of the eye’s lens and can be removed through a safe, quick surgical procedure. After cataract removal, most adults and children receive a permanent artificial lens, called an intraocular lens (IOL). This is an option for infants, too, but the trial found that the use of contact lenses is safer than, and just as effective as, an IOL for infants under 7 months old. The most recent data from the trial were published Mar. 6 in JAMA Ophthalmology.

“When we began this study, the prevailing theory was that IOLs would be the better option for cataract in infants because they correct vision constantly, while contact lenses can be removed or dislodged from the eye,” said Dr. Scott Lambert, the study’s lead investigator and a professor of ophthalmology at Emory University. “But our data suggest that if the family can manage it, contact lenses are the better option until the child gets older.”

Sepsis Study of Three Treatments Shows Same Survival Rate

Survival of patients with septic shock was the same regardless of whether they received treatment based on specific protocols or the usual high-level standard of care, according to a 5-year clinical study. The large-scale randomized trial, named ProCESS (Protocolized Care for Early Septic Shock), was done in 31 academic hospital emergency departments across the country and was funded by NIGMS.

The results of the trial, led by Dr. Derek Angus and Dr. Donald Yealy of the University of Pittsburgh, appeared online Mar. 18 in the New England Journal of Medicine.

“ProCESS set out to determine whether a specific protocol would increase the survival rates of people with septic shock,” said Dr. Sarah Dunsmore, who managed the ProCESS trial for NIGMS. “What it showed is that regardless of the method used, patient survival was essentially the same in all three treatment groups, indicating that sepsis patients in these clinical settings were receiving effective care.”

Sepsis is a body-wide inflammation, usually triggered by an infection. It can lead to a dangerous drop in blood pressure, called septic shock, that starves tissues of oxygen and chokes out major organs: lungs, kidneys, liver, intestines, heart. It remains frustratingly hard to identify, predict, diagnose and treat.—compiled by Carla Garnett

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