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X-Ray Energy Dispersive Spectroscopy of Intergranular Phases in β11 β' Sialons
Klauder's coherent states for the radial Coulomb problem in a uniformly curved space and their flat-space limits
First a set of coherent states a la Klauder is formally constructed for the
Coulomb problem in a curved space of constant curvature. Then the flat-space
limit is taken to reduce the set for the radial Coulomb problem to a set of
hydrogen atom coherent states corresponding to both the discrete and the
continuous portions of the spectrum for a fixed \ell sector.Comment: 10 pages, no figure
Research Reports From Status Report: Identification of Appropriate Standards for Corrective Action for a Release from Petroleum Underground Storage Tanks
This document is a collection of research reports: Cost of Closure and Remediation for Petroleum Underground Storage Tanks Assessment of Number and Distribution of USTs Analysis of Potable Water Sources in Kentucky Analysis of Well Data and Soil Parameters as Related to the STATSGO Kentucky General Soil Map Petroleum Products: Chemical Composition, Tocxicological and Environmental Data Health Risk Analysis for Selected Petroleum Compounds Summary of Analytical Methods Soil Volume Calculations for UST Installations Generic Organic Containment Pathway Analysis for Components of Petroleum in Soil and Groundwate
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de novo heterozygous variant Phe240Leu SLICK was identified by exome sequencing and confirmed by Sanger sequencing. Phe240Leu rSlick and hSLICK channels were electrophysiologically, heterologously characterized to reveal three significant alterations to channel function. First, [Cl-]i sensitivity was reversed in Phe240Leu channels. Second, predominantly K+-selective WT channels were made to favor Na+ over K+ by Phe240Leu. Third, and consequent to altered ion selectivity, Phe240Leu channels had larger inward conductance. Further, rSlick channels induced membrane hyperexcitability when expressed in primary neurons, resembling the cellular seizure phenotype. Taken together, our results confirm that Phe240Leu is a "change-of-function" KCNT2 mutation, demonstrating unusual altered selectivity in KNa channels. These findings establish pathogenicity of the Phe240Leu KCNT2 mutation in the reported EOEE patient
The long noncoding RNA MALAT1 promotes tumor-driven angiogenesis by up-regulating pro-angiogenic gene expression
Neuroblastoma is the most common solid tumor during early childhood. One of the key features of neuroblastoma is extensive tumor-driven angiogenesis due to hypoxia. However, the mechanism through which neuroblastoma cells drive angiogenesis is poorly understood. Here we show that the long noncoding RNA MALAT1 was upregulated in human neuroblastoma cell lines under hypoxic conditions. Conditioned media from neuroblastoma cells transfected with small interfering RNAs (siRNA) targeting MALAT1, compared with conditioned media from neuroblastoma cells transfected with control siRNAs, induced significantly less endothelial cell migration, invasion and vasculature formation. Microarray-based differential gene expression analysis showed that one of the genes most significantly downregulated following MALAT1 suppression in human neuroblastoma cells under hypoxic conditions was fibroblast growth factor 2 (FGF2). RT-PCR and immunoblot analyses confirmed that MALAT1 suppression reduced FGF2 expression, and Enzyme-Linked Immunosorbent Assays revealed that transfection with MALAT1 siRNAs reduced FGF2 protein secretion from neuroblastoma cells. Importantly, addition of recombinant FGF2 protein to the cell culture media reversed the effects of MALAT1 siRNA on vasculature formation. Taken together, our data suggest that up-regulation of MALAT1 expression in human neuroblastoma cells under hypoxic conditions increases FGF2 expression and promotes vasculature formation, and therefore plays an important role in tumor-driven angiogenesis
A boron-coated CCD camera for direct detection of Ultracold Neutrons (UCN)
A new boron-coated CCD camera is described for direct detection of ultracold
neutrons (UCN) through the capture reactions B
(n,0)Li (6%) and B(n,1)Li (94%).
The experiments, which extend earlier works using a boron-coated ZnS:Ag
scintillator, are based on direct detections of the neutron-capture byproducts
in silicon. The high position resolution, energy resolution and particle ID
performance of a scientific CCD allows for observation and identification of
all the byproducts , Li and (electron recoils). A
signal-to-noise improvement on the order of 10 over the indirect method has
been achieved. Sub-pixel position resolution of a few microns is demonstrated.
The technology can also be used to build UCN detectors with an area on the
order of 1 m. The combination of micrometer scale spatial resolution, few
electrons ionization thresholds and large area paves the way to new research
avenues including quantum physics of UCN and high-resolution neutron imaging
and spectroscopy.Comment: 10 pages, 8 figure
Prediction of Anisotropic Single-Dirac-Cones in BiSb Thin Films
The electronic band structures of BiSb thin films can be
varied as a function of temperature, pressure, stoichiometry, film thickness
and growth orientation. We here show how different anisotropic
single-Dirac-cones can be constructed in a BiSb thin film for
different applications or research purposes. For predicting anisotropic
single-Dirac-cones, we have developed an iterative-two-dimensional-two-band
model to get a consistent inverse-effective-mass-tensor and band-gap, which can
be used in a general two-dimensional system that has a non-parabolic dispersion
relation as in a BiSb thin film system
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
© 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost-effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways. Methods: We conducted a retrospective cost-effectiveness study comparing trio exome sequencing with a standard diagnostic approach, for a well-phenotyped cohort of 32 patients with epileptic encephalopathy, who remained undiagnosed after “first-tier” testing. Sensitivity analysis was included with a range of commercial exome and multigene panels. Results: The diagnostic yield was higher for the exome sequencing (16/32; 50%) than the standard arm (2/32; 6.2%). The trio exome sequencing pathway was cost-effective compared to the standard diagnostic pathway with a cost saving of AU2,482; $9,784) per additional diagnosis; the standard pathway cost approximately 10 times more per diagnosis. Sensitivity analysis demonstrated that the majority of commercial exome sequencing and multigene panels studied were also cost-effective. The clinical utility of all diagnoses was reported. Conclusion: Our study supports the integration of exome sequencing and gene panel testing into the diagnostic pathway for epileptic encephalopathy, both in terms of cost effectiveness and clinical utility. We propose a diagnostic pathway that integrates initial rapid screening for treatable causes and comprehensive genomic screening. This study has important implications for health policy and public funding for epileptic encephalopathy and other neurological conditions
Kentucky UST Field Manual
This study was undertaken to address the removal and closure of defective petroleum underground storage tanks in Kentucky. Goals for the study included: To address standards for levels of contamination requiring corrective action consistent with accepted scientific and technical principles. To recommend a matrix or scoring system to be used for (a) ranking sites as to actual or potential harm to human health and the environment caused by release of petroleum from a petroleum storage tank, and (2) establishing standards and procedures for corrective action that shall adequately protect human health and the environment. To address all compounds individually and collectively known as petroleum. To produce a report that shall be scientifically defensible
Status Report: Identification of Appropriate Standards for Corrective Action for a Release from Petroleum Underground Storage Tanks, Volume 1
This study was undertaken to address the removal and closure of defective petroleum underground storage tanks in Kentucky: To address standards for levels of contamination requiring corrective action consistent with accepted scientific and technical principles. To recommend a matrix or scoring system to be used for (a) ranking sites as to actual or potential harm to human health and the environment caused by a release of petroleum from a petroleum storage tank, and (b) establishing standards and procedures for corrective action that shall adequately protect human health and the environment. To address all compounds individually and collectively known as petroleum. To produce a report that shall be scientifically defensible
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