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Yu S.,University of Washington | Graf W.D.,Yale University | Shprintzen R.J.,United Virtual
Current Opinion in Pediatrics | Year: 2012

PURPOSE OF REVIEW: Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis. Among these is one of the most common multiple anomaly syndromes in humans and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome and DiGeorge syndrome. This review will focus on the recent literature dealing with both the molecular and clinical aspects of chromosome 22 genomic variations. Although the literature covering this area is expansive, the majority is descriptive or analytical of the problems presented by these genomic disorders, and there is little evidence of translational research including treatment outcomes. RECENT FINDINGS: With the increased use of microarray analysis in both research and clinical practice, variations in CNVs are becoming elucidated. Genomic analysis continues to characterize genes and gene effect. Research on the COMT gene continues to yield interesting findings, including a possible sex-mediated effect because of its regulatory role with estrogen. There is a small amount of treatment outcome data relevant to neuropsychiatric disorders in VCFS, but based on small samples and short-term follow-up. SUMMARY: Although hundreds of studies in the past year have focused on genomic disorders of chromosome 22, little progress has been made in the implementation of translational research, even for more common disorders including VCFS.© 2012 Wolters Kluwer Health Lippincott Williams & Wilkins. Source


Latifi K.,United Virtual
Telemedicine journal and e-health : the official journal of the American Telemedicine Association | Year: 2011

The Ministry of Health of Kosova has recently announced the Telemedicine Program of Kosova (TMPK) as the official institution responsible for managing and coordinating the nation's Long-Distance Continuous Medical Education (CME) program. There are a lack of studies on cost-benefit analysis (CBA) and other economic evaluations of telemedicine programs (TMP), in particular the financial value of CME offered through such a service. In addition, there is lack of prospective studies on Monitoring & Evaluation (M&E) of TMP. The goal of this study was to conduct a retrospective CBA of prospective data collected at TMPK over a 5-year period (2005-2010) in order to determine the cost benefit as opposed to the alternative method of delivery of this model for developing countries whose healthcare systems are in disarray. We reviewed data on the number of participants in virtual lectures both at the Telemedicine Center of Kosova (TCK) as well as the number of participants at six Regional Telemedicine Centers throughout Kosova, the number of lectures broadcasted, the clinical cases reviewed and transmitted for international consultation, and other quantitative data. Results: Only in 2009, approximately 2,000 CME certificates were awarded to physicians and nurses of Kosova, 18 international teleconsultations were conducted, 138 videoconferences, lectures, and seminars were held, and there were over 9,000 visitors at the TCK e-library. Data analysis shows that the TMPK has been an efficient mechanism for CME and sustainable model for rebuilding the medical system. TMPK has been successful in offering physicians, nurses, and other medical professions access to electronic information. TMP is an efficient mechanism to ensure CME and rebuilding medical systems in developing countries. There is a need for prospective CBA of any TMP and the establishment of M&E programs in any future telemedicine initiatives in developing countries. Source


Friedman A.,Lawrence Livermore National Laboratory | Friedman A.,United Virtual
Physics of Plasmas | Year: 2012

By manipulating a set of ion beams upstream of a target, it is possible to arrange for a smoother deposition pattern, so as to achieve more uniform illumination of the target. A uniform energy deposition pattern is important for applications including ion-beam-driven high energy density physics and heavy-ion beam-driven inertial fusion energy (heavy-ion fusion). Here, we consider an approach to such smoothing that is based on rapidly wobbling each of the beams back and forth along a short arc-shaped path, via oscillating fields applied upstream of the final pulse compression. In this technique, uniformity is achieved in the time-averaged sense; this is sufficient provided the beam oscillation timescale is short relative to the hydrodynamic timescale of the target implosion. This work builds on two earlier concepts: elliptical beams applied to a distributed-radiator target [D. A. Callahan and M. Tabak, Phys. Plasmas 7, 2083 (2000)] and beams that are wobbled so as to trace a number of full rotations around a circular or elliptical path [R. C. Arnold, Nucl. Instrum. Methods 199, 557 (1982)]. Here, we describe the arc-based smoothing approach and compare it to results obtainable using an elliptical-beam prescription. In particular, we assess the potential of these approaches for minimization of azimuthal asymmetry, for the case of a ring of beams arranged on a cone. It is found that, for small numbers of beams on the ring, the arc-based smoothing approach offers superior uniformity. In contrast with the full-rotation approach, arc-based smoothing remains usable when the geometry precludes wobbling the beams around a full circle, e.g., for the X-target [E. Henestroza, B. G. Logan, and L. J. Perkins, Phys. Plasmas 18, 032702 (2011)] and some classes of distributed-radiator targets. © 2012 American Institute of Physics. Source


Siegel M.,Boston University | Ross C.S.,United Virtual | King III C.,Greylock McKinnon Associates | King III C.,Pleiades
American Journal of Public Health | Year: 2013

Objectives. We examined the relationship between levels of household firearm ownership, as measured directly and by a proxy-the percentage of suicides committed with a firearm-and age-adjusted firearm homicide rates at the state level. Methods. We conducted a negative binomial regression analysis of panel data from the Centers for Disease Control and Prevention's Web-Based Injury Statistics Query and Reporting Systems database on gun ownership and firearm homicide rates across all 50 states during 1981 to 2010. We determined fixed effects for year, accounted for clustering within states with generalized estimating equations, and controlled for potential state-level confounders. Results. Gun ownership was a significant predictor of firearm homicide rates (incidence rate ratio = 1.009; 95% confidence interval = 1.004, 1.014). This model indicated that for each percentage point increase in gun ownership, the firearm homicide rate increased by 0.9%. Conclusions. We observed a robust correlation between higher levels of gun ownership and higher firearm homicide rates. Although we could not determine causation, we found that states with higher rates of gun ownership had disproportionately large numbers of deaths from firearm-related homicides. Copyright © 2013 by the American Public Health Association®. Source


Dixon R.F.,Massachusetts General Hospital | Dixon R.F.,United Virtual
Health Affairs | Year: 2010

The effective delivery of primary care requires more frequent information exchange and communication than the typical office visit allows. Although industry leaders endorse health information technology (IT) to improve health outcomes and reduce costs, there has been less attention devoted to the use of this technology to deliver care. Using Internet-based technologies such as secure messaging, videoconferencing, and remote physiological monitoring can provide information to improve the patient-provider relationship and the quality of health care. Evidence has shown that patients and providers are willing to use these care delivery technologies. However, their success will require integration with electronic health records and payment models that support their implementation and growth. ©2010 Project HOPE - The People-to-People Health Foundation, Inc. Source

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