Screening newborns for a rare but treatable genetic disease benefits families and society, according to a team of pediatricians and health care economists who analyzed patient records and data from mass screening programs in several states. The study appears in the November issue of Pediatrics.
The researchers, from The Childrens Hospital of Philadelphia and The University of Pennsylvania School of Medicine, analyzed the cost-effectiveness of screening for medium-chain acyl-CoA-dehydrogenase deficiency, or MCADD. An inherited metabolic disease that impairs energy production from stores of body fat, MCADD may go undetected until it causes childhood death or brain damage.
"Our research showed that screening newborns for MCADD is cost-effective compared to not screening," said Charles P. Venditti, M.D., Ph.D., the studys corresponding author. "Furthermore, as automated screening technology continues to enable expanded newborn screening for many genetic diseases, we may find similar benefits for other diseases." (A specialist in pediatric biochemical genetics at the University of Pennsylvania and The Childrens Hospital of Philadelphia during the period of the study, Dr. Venditti is now at the National Human Genome Research Institute of the National Institutes of Health.)
John Ascenzi | EurekAlert!
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This is a joint press release of University Muenster and Heidelberg as well as the GSI Helmholtzzentrum für Schwerionenforschung in Darmstadt.
Then, in a phase transition, they combined and formed hadrons, among them the building blocks of atomic nuclei, protons and neutrons. In the current issue of...
Thin-film solar cells made of crystalline silicon are inexpensive and achieve efficiencies of a good 14 percent. However, they could do even better if their shiny surfaces reflected less light. A team led by Prof. Christiane Becker from the Helmholtz-Zentrum Berlin (HZB) has now patented a sophisticated new solution to this problem.
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A study in the journal Bulletin of Marine Science describes a new, blood-red species of octocoral found in Panama. The species in the genus Thesea was discovered in the threatened low-light reef environment on Hannibal Bank, 60 kilometers off mainland Pacific Panama, by researchers at the Smithsonian Tropical Research Institute in Panama (STRI) and the Centro de Investigación en Ciencias del Mar y Limnología (CIMAR) at the University of Costa Rica.
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Scientists have succeeded in observing the first long-distance transfer of information in a magnetic group of materials known as antiferromagnets.
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