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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An international research team including astronomers from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has combined radio telescopes from five continents to prove the existence of a narrow stream of material, a so-called jet, emerging from the only gravitational wave event involving two neutron stars observed so far. With its high sensitivity and excellent performance, the 100-m radio telescope in Effelsberg played an important role in the observations.
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Up to now, OLEDs have been used exclusively as a novel lighting technology for use in luminaires and lamps. However, flexible organic technology can offer much more: as an active lighting surface, it can be combined with a wide variety of materials, not just to modify but to revolutionize the functionality and design of countless existing products. To exemplify this, the Fraunhofer FEP together with the company EMDE development of light GmbH will be presenting hybrid flexible OLEDs integrated into textile designs within the EU-funded project PI-SCALE for the first time at LOPEC (March 19-21, 2019 in Munich, Germany) as examples of some of the many possible applications.
The Fraunhofer FEP, a provider of research and development services in the field of organic electronics, has long been involved in the development of...
For the first time, an international team of scientists based in Regensburg, Germany, has recorded the orbitals of single molecules in different charge states in a novel type of microscopy. The research findings are published under the title “Mapping orbital changes upon electron transfer with tunneling microscopy on insulators” in the prestigious journal “Nature”.
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Scientists at the University of Konstanz identify fierce competition between the human immune system and bacterial pathogens
Cell biologists from the University of Konstanz shed light on a recent evolutionary process in the human immune system and publish their findings in the...
Laser physicists have taken snapshots of carbon molecules C₆₀ showing how they transform in intense infrared light
When carbon molecules C₆₀ are exposed to an intense infrared light, they change their ball-like structure to a more elongated version. This has now been...
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