A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

The euchromatic histone-lysine N-methyltransferase 1 (EHMT1) gene was examined in a 3-year-old boy with characteristic clinical features of Kleefstra syndrome. Sequencing of all 27 EHMT1 exons revealed a novel mutation, NM_024757.4:c.2712+1G>A, which affects the splice donor of intron 18. Whereas the index patient is heterozygous for that mutation, his phenotypically normal mother shows tissue-specific mosaicism. Sequencing of EHMT1 RT-PCR products revealed two aberrant transcript variants: in one variant, exon 18 was skipped; in the other, a near-by GT motif was used as splice donor and intronic sequence was inserted between exons 18 and 19. Both transcript variants were found in the patient and his mother. The latter had lower amounts of these transcripts consistent with mosaic status. This is the first description of an EHMT1 point mutation being inherited from a parent with verified mosaicism. The constitutive c.2712+1G>A splice site mutation in EHMT1 is fully pathogenic, and the transcript variants produced do not attenuate the severity of the disease.European Journal of Human Genetics advance online publication, 12 December 2012; doi:10.1038/ejhg.2012.267

Syrian Refugees and the Digital Passage to Europe: Smartphone Infrastructures and Affordances

This research examines the role of smartphones in refugees’ journeys. It traces the risks and possibilities afforded by smartphones for facilitating information, communication, and migration flows in the digital passage to Europe. For the Syrian and Iraqi refugee respondents in this France-based qualitative study, smartphones are lifelines, as important as water and food. They afford the planning, navigation, and documentation of journeys, enabling regular contact with family, friends, smugglers, and those who help them. However, refugees are simultaneously exposed to new forms of exploitation and surveillance with smartphones as migrations are financialised by smugglers and criminalized by European policies, and the digital passage is dependent on a contingent range of sociotechnical and material assemblages. Through an infrastructural lens, we capture the dialectical dynamics of opportunity and vulnerability, and the forms of resilience and solidarity, that arise as forced migration and digital connectivity coincide

IMPACT EVALUATION FOR THE MANUFACTURED HOUSING ACQUISITION PROGRAM (MAP)

This report presents the results of an impact evaluation of the Manufactured Housing Acquisition Program. This evaluation was conducted for Bonneville by Pacific Northwest Laboratory to determine MAP's energy impacts and cost-effectiveness. We conducted a three-tiered analysis of the utility billing data to estimate program electriccty savings. The first (a raw billing data comparison and simple regression analysis) and second (PRISM) tier analyses provided useful findings for the third-tier analysis by which program savings were estimated. The third-tier approach used a conditional demand type regression analysis to analyze monthly energy consumption, taking into account significant factors likely to influence electricrty usage. We used the regression results to estimate energy savings under "normal" weather conditions for each climate zone. We determined cost-effectiveness by calculating levelized costs using a methodology published by Bonneville. We analyzed potential market transformation effects from a conceptual viewpoint. Our results suggested that MAP's market transformation benefits probably reduced the levelized cost to utilities by 40% or more

Label-free electrochemical monitoring of DNA ligase activity

This study presents a simple, label-free electrochemical technique for the monitoring of DNA ligase activity. DNA ligases are enzymes that catalyze joining of breaks in the backbone of DNA and are of significant scientific interest due to their essential nature in DNA metabolism and their importance to a range of molecular biological methodologies. The electrochemical behavior of DNA at mercury and some amalgam electrodes is strongly influenced by its backbone structure, allowing a perfect discrimination between DNA molecules containing or lacking free ends. This variation in electrochemical behavior has been utilized previously for a sensitive detection of DNA damage involving the sugar-phosphate backbone breakage. Here we show that the same principle can be utilized for monitoring of a reverse process, i.e., the repair of strand breaks by action of the DNA ligases. We demonstrate applications of the electrochemical technique for a distinction between ligatable and unligatable breaks in plasmid DNA using T4 DNA ligase, as well as for studies of the DNA backbone-joining activity in recombinant fragments of E. coli DNA ligase

Coherence of neutrino flavor mixing in quantum field theory

In the simplistic quantum mechanical picture of flavor mixing, conditions on the maximum size and minimum coherence time of the source and detector regions for the observation of interference---as well as the very viability of the approach---can only be argued in an ad hoc way from principles external to the formalism itself. To examine these conditions in a more fundamental way, the quantum field theoretical $S$-matrix approach is employed in this paper, without the unrealistic assumption of microscopic stationarity. The fully normalized, time-dependent neutrino flavor mixing event rates presented here automatically reveal the coherence conditions in a natural, self-contained, and physically unambiguous way, while quantitatively describing the transition to their failure.Comment: 12 pages, submitted to Phys. Rev.

Search for Radiative Decays of Cosmic Background Neutrino using Cosmic Infrared Background Energy Spectrum

We propose to search for the neutrino radiative decay by fitting a photon energy spectrum of the cosmic infrared background to a sum of the photon energy spectrum from the neutrino radiative decay and a continuum. By comparing the present cosmic infrared background energy spectrum observed by AKARI and Spitzer to the photon energy spectrum expected from neutrino radiative decay with a maximum likelihood method, we obatined a lifetime lower limit of $3.1 \times 10^{12}$ to $3.8 \times 10^{12}$ years at 95% confidence level for the third generation neutrino $\nu_3$ in the $\nu_3$ mass range between 50 \mmev and 150 \mmev under the present constraints by the neutrino oscillation measurements. In the left-right symmetric model, the minimum lifetime of $\nu_3$ is predicted to be $1.5 \times 10^{17}$ years for $m_3$ of 50 \mmev. We studied the feasibility of the observation of the neutrino radiative decay with a lifetime of $1.5 \times 10^{17}$ years, by measuring a continuous energy spectrum of the cosmic infrared background

Field-induced Ordering in Critical Antiferromagnets

Transfer-matrix scaling methods have been used to study critical properties of field-induced phase transitions of two distinct two-dimensional antiferromagnets with discrete-symmetry order parameters: triangular-lattice Ising systems (TIAF) and the square-lattice three-state Potts model (SPAF-3). Our main findings are summarised as follows. For TIAF, we have shown that the critical line leaves the zero-temperature, zero -field fixed point at a finite angle. Our best estimate of the slope at the origin is $(dT_c/dH)_{T=H=0} = 4.74 \pm 0.15$. For SPAF-3 we provided evidence that the zero-field correlation length diverges as $\xi(T \to 0, H=0) \simeq \exp (a/T^{x})$, with $x=1.08 \pm 0.13$, through analysis of the critical curve at $H \neq 0$ plus crossover arguments. For SPAF-3 we have also ascertained that the conformal anomaly and decay-of-correlations exponent behave as: (a) H=0: $c=1, \eta=1/3$; (b) $H \neq 0: c=1/2, \eta=1/4$.Comment: RevTex, 7 pages, 4 eps figures, to be published in Phys. Rev.

Impact evaluation for the Manufactured Housing Acquisition Program: Technical appendix

This document supplements the Manufactured Housing Acquisition Program (MAP) impact evaluation report, Lee et al. (1995). MAP is a voluntary energy-efficiency program for HUD-code manufactured homes conducted in the Pacific Northwest beginning in April 1992. Pacific Northwest Laboratory (PNL) prepared this and the impact evaluation reports for the Bonneville Power Administration (Bonneville). Lee et al. (1995) presents the objectives, methodology, and findings of the program evaluation. This report presents more details about specific aspects of the analysis. The authors used a three-tier approach to analyze the energy consumption of MAP and baseline homes. Chapter 2 discusses Tier 1, the billing data and simplified regression analysis. Chapter 3 presents the details of the Tier 2 analysis, the PRInceton Scorekeeping Method (PRISM). Chapter 4 presents details of the primary analysis technique that they used, a comprehensive regression analysis. Chapter 5 and 6 review two other studies of energy savings associated with MAP. Chapter 5 discusses the simulation model analysis conducted by Ecotope, Inc. Chapter 6 reviews the analysis by Regional Economic Research conducted for three Pacific Northwest investor-owned utilities. The final chapter, Chapter 7, presents details of the Bonneville levelized cost methodology used to estimate the cost of energy savings associated with MAP. Results are presented and discussed in many cases for the three different climate zones found in the Pacific Northwest. 18 refs., 29 tabs