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Mysterious Ailments May Be The Result Of Undiagnosed Genetic Defects
One in every 3,000 babies is born with an inborn error of metabolism -- a genetic defect that interferes with their ability to process substances like carbohydrates, proteins and fats. Until recently, tests to detect many of these very rare, disabling, and sometimes fatal disorders like fatty acid oxidation disorders were rarely used. If the child died, the cause would be listed as unknown or Sudden Infant Death Syndrome (SIDS). If they survived, they would experience a range of symptoms and medical problems throughout their lives such as delays in development, seizures, difficulty with growth and autistic behavior.
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Results From Phase 1 Clinical Study Of PEG-PAL In PKU And Update On Phase 2 Clinical Study
BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced results from the Phase 1 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (PKU). The company expects to initiate the Phase 2 clinical study in late June or early July, pending institutional review board (IRB) approval from the clinical trial sites. The U.S. Food and Drug Administration (FDA) has reviewed the Phase II clinical trial protocol.
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Children's Hospitals And Clinics Of Minnesota Receive Level III Trauma Designation
The Minnesota Department of Health recently designated Children"s Hospitals and Clinics of Minnesota"s two hospital locations as Level III Trauma Hospitals. Children"s of Minnesota has the sixth busiest pediatric emergency department in the nation with over 84,000 visits per year, and already treats around 450 trauma cases each year. Children"s voluntarily participated in the intense designation process, which included an external review of the hospitals" res and capabilities to care for young trauma patients. Children"s met the required standards of commitment, clinical and equipment res, and staff training.
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Radionuclide Contamination At DOE Sites Addressed By New Research

Five years from now, Lab scientists will be able to better determine how, when and why plutonium moves in soil and groundwater. The way to predict how plutonium is transported in groundwater away from a site is by looking at the dominant geochemical processes that control plutonium"s (Pu) behavior in the subsurface at environmental levels. But that isn"t always so easy. A $6 million five-year proposal funded by the Department of Energy"s Office of Science, Biological and Environmental Research (BER), will allow about a dozen LLNL scientists to study Pu transport at concentration levels at the picomolar to attomolar scale (equivalent to dissolving one grain of salt in 100 Olympic-size swimming pools). Plutonium can move on small particulates, called colloids, which are often found in groundwater, but the conditions that control whether Pu migrates or remains immobile are not well understood. That"s where the Lab"s team comes in. Annie Kersting, director of the Lab"s Glenn T. Seaborg Institute and manager of the study, said previous experiments of plutonium movement in the subsurface were performed at Pu concentrations orders of magnitude higher than those observed in the field. Now they will do experiments at much lower, environmental conditions. Ultimately the research will help in the development of conceptual models for Pu transport across the Department of Energy complex. The model will provide DOE with the scientific basis to support decisions for the remediation and long-term stewardship of legacy sites, Kersting said. "We can provide DOE an understanding of when and how Pu is transported in groundwater," she said. "What process did it go through to get there, could it affect people downstream of DOE sites, and how can we predict and monitor Pu contamination?" Taking advantage of the unique facilities housed at Livermore"s institutes, the team will be able to measure minute amounts of Pu, similar to the concentrations found in soil and groundwater, with the Lab"s secondary ion mass spectrometer (NanoSIMS), the Transmission Electron Microscope (Titan SuperSTEM) and CAMS (an accelerator mass spectrometer). "With these tools, we"ll be able to identify where the Pu is sited on a colloid, study the behavior of Pu at extremely low concentrations and identify the geochemical processes controlling its mobility," Kersting said. For example, Figure 1 shows Pu precipitates clearly identified on an iron oxide colloid. Mavrik Zavarin, the lead scientist, said it"s likely the team will discover that Pu behavior is very much dependent on concentration. "At very low concentrations, Pu will interact with groundwater, minerals and microbes in ways we could not have predicted based on past experiments," he said. "Our team at LLNL has a unique opportunity to study Pu chemistry under environmentally relevant conditions." Laboratory results will be compared to field samples taken from three DOE sites: Nevada Test Site, Rocky Flats and the Hanford Site. Pu-containing colloids will be collected and characterized in terms of their inorganic surfaces, associated organic compounds/coatings and possible microbial associations. The Livermore team includes: Kersting, Zavarin, Susan Carroll, Robert Maxwell, Zurong Dai, Ross Williams, Scott Tumey, Pihong Zhao, Ruth Tinnacher, Patrick Huang and Ruth Kips. Collaborators include Brian Powell from Clemson University and Duane Moser from the Desert Research Institute Anne Stark DOE/Lawrence Livermore National Laboratory


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