The futility of genomic counseling: essential role of electronic health records

Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be sufficiently cost-effective for widespread clinical integration. Yet, the clinical utility of whole-genome data is currently limited by an inability to effectively process, store, interpret and update genomic data, while at the same time protecting patient privacy. Enter the electronic health record. We propose that without the integration of a dynamic uniform electronic health record, counseling patients on the basis of genome-wide data will be futile

Scaling of the electron dissipation range of solar wind turbulence

Electron scale solar wind turbulence has attracted great interest in recent years. Clear evidences have been given from the Cluster data that turbulence is not fully dissipated near the proton scale but continues cascading down to the electron scales. However, the scaling of the energy spectra as well as the nature of the plasma modes involved at those small scales are still not fully determined. Here we survey 10 years of the Cluster search-coil magnetometer (SCM) waveforms measured in the solar wind and perform a statistical study of the magnetic energy spectra in the frequency range [$1, 180$]Hz. We show that a large fraction of the spectra exhibit clear breakpoints near the electon gyroscale $\rho_e$, followed by steeper power-law like spectra. We show that the scaling below the electron breakpoint cannot be determined unambiguously due to instrumental limitations that will be discussed in detail. We compare our results to recent ones reported in other studies and discuss their implication on the physical mechanisms and the theoretical modeling of energy dissipation in the SW.Comment: 10 pages, submitte

Inducible Control of Subcellular RNA Localization Using a Synthetic Protein-RNA Aptamer Interaction

Evidence is accumulating in support of the functional importance of subcellular RNA localization in diverse biological contexts. In different cell types, distinct RNA localization patterns are frequently observed, and the available data indicate that this is achieved through a series of highly coordinated events. Classically, cis–elements within the RNA to be localized are recognized by RNA-binding proteins (RBPs), which then direct specific localization of a target RNA. Until now, the precise control of the spatiotemporal parameters inherent to regulating RNA localization has not been experimentally possible. Here, we demonstrate the development and use of a chemically–inducible RNA–protein interaction to regulate subcellular RNA localization. Our system is composed primarily of two parts: (i) the Tet Repressor protein (TetR) genetically fused to proteins natively involved in localizing endogenous transcripts; and (ii) a target transcript containing genetically encoded TetR–binding RNA aptamers. TetR–fusion protein binding to the target RNA and subsequent localization of the latter are directly regulated by doxycycline. Using this platform, we demonstrate that enhanced and controlled subcellular localization of engineered transcripts are achievable. We also analyze rules for forward engineering this RNA localization system in an effort to facilitate its straightforward application to studying RNA localization more generally.National Institutes of Health (U.S.) (Director’s New Innovator Award Program (grant number 1DP2OD007124 )

The use of TeleMedicine in the Treatment of Pediatric Obesity: Feasibility and Acceptability

This is the peer reviewed version of the following article: Davis, A. M., James, R. L., Boles, R. E., Goetz, J. R., Belmont, J. and Malone, B. (2011), The use of TeleMedicine in the treatment of paediatric obesity: feasibility and acceptability. Maternal & Child Nutrition, 7: 71–79. doi:10.1111/j.1740-8709.2010.00248.x, which has been published in final form at http://doi.org/10.1111/j.1740-8709.2010.00248.x. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.OBJECTIVE: To assess the feasibility of conducting empirically supported family based pediatric obesity group treatment via telemedicine. METHODS: Seventeen families were randomly assigned to one of two conditions (physician visit, TeleMedicine). Measures included feasibility, satisfaction, and intervention outcome measures such as BMI percentile, and nutrition and activity behaviors. Measures were completed at baseline, post-treatment, and at one-year follow-up. RESULTS: Analyses indicate that both feasibility and satisfaction data regarding the TeleMedicine intervention were positive. Intervention outcome indicates no change in BMI percentile or nutrition and activity behaviors for either treatment group. CONCLUSIONS: A behavioral family-based weight loss intervention delivered via TeleMedicine was well received by both parents and providers. Due to the small sample size, null findings regarding intervention outcome should be interpreted with caution. Future research should focus on methods to increase the impact of this intervention on key outcome variables

A comparison of wave mode identification techniques

The four point measurements available from the Cluster mission enable spatiotemporal effects in data sets to be resolved. One application of these multipoint measurements is the determination of the wave vectors and hence the identification of wave modes that exist within the plasma. Prior to multi-satellite missions, wave identification techniques were based upon the interpretation of observational data using theoretically defined relations. However, such techniques are limited by the quality of the data and the type of plasma model employed. With multipoint measurements, wave modes can be identified and their wave directions determined purely from the available observations. This paper takes two such methods, a phase differencing technique and k-filtering and compares their results. It is shown that both methods can resolve the k vector for the dominant mirror mode present in the data. The phase differencing method shows that the nature of the wave environment is constantly changing and as such both methods result in an average picture of the wave environment in the period analysed. The k-filtering method is able to identify other modes that are present

The AMS-02 RICH Imager Prototype - In-Beam Tests with 20 GeV/c per Nucleon Ions -

A prototype of the AMS Cherenkov imager (RICH) has been tested at CERN by means of a low intensity 20 GeV/c per nucleon ion beam obtained by fragmentation of a primary beam of Pb ions. Data have been collected with a single beam setting, over the range of nuclear charges 2<Z<~45 in various beam conditions and using different radiators. The charge Z and velocity beta resolutions have been measured.Comment: 4 pages, contribution to the ICRC 200

The Influence of an Orienting Task on the Memory Performance of Children with Reading Problems

This study investigated the hypothesis that differences in performance between reading disabled and normal children on a rote memory task could be eliminated if both groups were induced to process the material to be remembered in the same manner. The free recall of fourth-grade good and poor readers was tested following a free study period and the performance of an orienting task that required subjects to sort the material into taxonomic categories. There was a significant group by conditions interaction, with recall differences in the free study condition being eliminated following performance of the orienting task. The results have important implications for theoretical explanations of performance deficits in reading disabled children.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/68893/2/10.1177_002221947901200608.pd