A Study of Solvent Inhalation Abuse and the Development of Analytical Techniques to Monitor the Problem

Abstract Not Provided

Implementation of the STOP BANG Screening Instrument for Obstructive Sleep Apnea within the Intensive Care Unit and 5 East Cardiac Unit

BACKGROUND: Recent studies have found that OSA without the use of CPAP is an independent risk factor for cardiovascular disease and hypertension, which can lead to myocardial infarction (MI) and cerebral vascular accident (CVA) or stroke. This increases patient morbidity and mortality rates as well as medical costs. In those suffering from a myocardial infarction (MI) or cardiovascular accident (CVA), an important intervention is proper screening for the presence of OSA while in the acute care setting. The STOP BANG screening instrument is a simple yet effective tool in assessing for sleep apnea symptoms with a respective sensitivity of 93% for detecting moderate OSA and 100% in detecting severe OSA. OBJECTIVE: To educate participating nursing staff on using the STOP BANG screening instrument, and implementing it within the MI and CVA populations. After completion of the implementation period, screening adherence was assessed as well as patient demographics. METHODS: A literature review was conducted and the STOP BANG screening instrument was selected to assess for OSA. Participating nurses were educated on the use of the STOP BANG screening instrument who then implemented the tool on the MI and CVA populations. A pilot study was conducted that utilized a descriptive and qualitative study and involved a retrospective chart review that was one time only, and included a two-part study. The setting was within the ICU and 5 East Cardiac Units of Norton Brownsboro Hospital (NBH) from September 28, 2017 through December 17, 2017. RESULTS: The participation rate in the ICU was 78% and 100% in the 5 East Cardiac unit. Within the ICU a 60% screening adherence rate was achieved for CVA patients with a 40% non-adherence rate. For MI patients a 38% adherence rate was achieved for the ICU and 5 East units combined, and a 62% non-adherence rate. Among patient demographics, results were as follows: positive screens requiring supplemental oxygen was (P=.214), positive screens vs negative screens and the use of BiPAP were (P=.074) and (P=1.000), notes made in records for positive screens were 9 out of 18 or 50% adherence. CONCLUSIONS: Nurse provider participation was high within the ICU and 5 East Cardiac units. Screening adherence was higher among the CVA patient population compared to the MI population. There was no significance or correlations between the use of supplemental oxygen or the use of BiPAP, and positive STOP BANG screens. There was statistical significance between male patients with higher BMI\u27s and positive STOP BANG screens. These results indicate that more research is required with larger sample sizes and multiple facilities to acquire more reliable results for generalizability

HGNC: The Why and How of Standardised Gene Nomenclature

The HUGO Gene Nomenclature Committee (HGNC) aims to approve a unique gene symbol and gene name for every human gene. Standardisation of gene symbols is necessary to allow researchers and curators to refer to the same gene without ambiguity. Consistent use of gene symbols in publications and across different websites makes it easy for researchers to find all relevant information for a particular gene and facilitates data mining and retrieval. For each gene that we name we curate relevant information including symbol aliases, chromosomal location, locus type, sequence accessions and links to relevant databases. Therefore, our website is a central resource for human genetics. 
 
We endeavour to approve gene symbols that are acceptable to researchers to encourage widespread use of our symbols. In order to achieve this, we contact researchers that work on particular genes for advice before approving symbols and allow researchers to submit gene symbols to us directly for our consideration. We attend conferences to discuss difficult nomenclature matters and to gain community agreement. We interact with annotators of genes and proteins to provide symbols and names that accurately reflect the nature of each gene and its products. We also work with the gene nomenclature committees for other organisms, and aim to approve equivalent gene symbols for orthologous genes in human and other vertebrate species, especially mouse and rat. 
 
We will demonstrate the steps that are required to name a gene, and will show how and where the nomenclature of a particular gene is used. We will also explain the nature of our collaborations with particular journals and other databases in striving to achieve the use of a common gene nomenclature by all

The effect of rare variants on inflation of the test statistics in case-control analyses.

BACKGROUND: The detection of bias due to cryptic population structure is an important step in the evaluation of findings of genetic association studies. The standard method of measuring this bias in a genetic association study is to compare the observed median association test statistic to the expected median test statistic. This ratio is inflated in the presence of cryptic population structure. However, inflation may also be caused by the properties of the association test itself particularly in the analysis of rare variants. We compared the properties of the three most commonly used association tests: the likelihood ratio test, the Wald test and the score test when testing rare variants for association using simulated data. RESULTS: We found evidence of inflation in the median test statistics of the likelihood ratio and score tests for tests of variants with less than 20 heterozygotes across the sample, regardless of the total sample size. The test statistics for the Wald test were under-inflated at the median for variants below the same minor allele frequency. CONCLUSIONS: In a genetic association study, if a substantial proportion of the genetic variants tested have rare minor allele frequencies, the properties of the association test may mask the presence or absence of bias due to population structure. The use of either the likelihood ratio test or the score test is likely to lead to inflation in the median test statistic in the absence of population structure. In contrast, the use of the Wald test is likely to result in under-inflation of the median test statistic which may mask the presence of population structure.This work was supported by a grant from Cancer Research UK (C490/A16561). AP is funded by a Medical Research Council studentship.This is the final published version. It first appeared at http://dx.doi.org/10.1186%2Fs12859-015-0496-1

Concentration‐dependent optical‐absorption coefficient in n‐type GaAs

The doping-dependent, near-band-edge optical-absorption coefficient CY(h v) was deduced from optical transmission measurements in n-type GaAs thin films. The selenium-doped films were grown by metalorganic chemical-vapor deposition and do ed to produce room-temperature electron concentrations from 1.3 x 10” to 3.8X 1018 cm- P . The transmission measurements covered photon energies between 1.35 and 1.7 eV and were performed on double heterostructures with the substrate removed by selective etching. The results show good qualitative agreement with previous studies and good quantitative agreement, except for the heavily doped samples. For na=3.8 X 10” cme3, a( 1.42 eV\u3e is approximately four times that reported by previous workers. Secondary-ion-mass spectrometry measurements on flms grown under differing conditions demonstrate that a(hv) is sensitive to electrically inactive dopants and supports the hypothesis that precipitates or compensation influenced previous measurements. These comprehensive results on high-quality, uncompensated material should prove useful for fundamental studies of optical transitions in n-type GaAs as well as for modeling optoelectronic devices

Microsecond Lifetimes and Low Interface Recombination Velocities in Moderately Doped n-GaAs Thin Films

We have observed lifetimes greater than 1 ps in moderately doped, thin film, n-GaAs/A1a,Gae,As double heterostructure membranes formed by etching away the substrate. We attribute these ultralong lifetimes to enhanced photon recycling caused by the removal of the substrate. Nonradiative recombination in the bulk and at the interfaces is very low; the upper limit of the interface recombination velocity is 25 cm/S.-Such long lifetimes in GaAs doped at N,= 1.3 X 10” cme3 suggest that thin-film solar cells offer a potential option for achieving very high efficiencies

Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model

Polygenic risk; Prediction; Breast cancerRiesgo poligénico; Predicción; Cáncer de mamaRisc poligènic; Predicció; Càncer de mamaBackground: The multifactorial risk prediction model BOADICEA enables identification of women at higher or lower risk of developing breast cancer. BOADICEA models genetic susceptibility in terms of the effects of rare variants in breast cancer susceptibility genes and a polygenic component, decomposed into an unmeasured and a measured component - the polygenic risk score (PRS). The current version was developed using a 313 SNP PRS. Here, we evaluated approaches to incorporating this PRS and alternative PRS in BOADICEA. Methods: The mean, SD, and proportion of the overall polygenic component explained by the PRS (α2) need to be estimated. α was estimated using logistic regression, where the age-specific log-OR is constrained to be a function of the age-dependent polygenic relative risk in BOADICEA; and using a retrospective likelihood (RL) approach that models, in addition, the unmeasured polygenic component. Results: Parameters were computed for 11 PRS, including 6 variations of the 313 SNP PRS used in clinical trials and implementation studies. The logistic regression approach underestimates α⁠, as compared with the RL estimates. The RL α estimates were very close to those obtained by assuming proportionality to the OR per 1 SD, with the constant of proportionality estimated using the 313 SNP PRS. Small variations in the SNPs included in the PRS can lead to large differences in the mean. Conclusions: BOADICEA can be readily adapted to different PRS in a manner that maintains consistency of the model.This work has been supported by grants from Cancer Research UK (PPRPGM-Nov20\100002); the European Union's Horizon 2020 Research and Innovation Programme under grant agreement numbers 633784 (B-CAST) and 634935 (BRIDGES); the PERSPECTIVE I&I project which is funded by the Government of Canada through Genome Canada (#13529) and the Canadian Institutes of Health Research (#155865), the Ministère de l’Économie et de l'Innovation du Québec through Genome Québec, the Quebec Breast Cancer Foundation, the CHU de Quebec Foundation and the Ontario Research Fund; and by the NIHR Cambridge Biomedical Research Centre (BRC-1215–20014). BCAC is funded by the European Union's Horizon 2020 Research and Innovation Programme (grant numbers 634935 and 633784 for BRIDGES and B-CAST respectively), and the PERSPECTIVE I&I project. Additional funding for BCAC is provided via the Confluence project which is funded with intramural funds from the NCI Intramural Research Program, NIH. Genotyping of the OncoArray was funded by the NIH Grant U19 CA148065, and Cancer Research UK Grant C1287/A16563 and the PERSPECTIVE project supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research (grant GPH-129344) and, the Ministère de l’Économie, Science et Innovation du Québec through Genome Québec and the PSRSIIRI-701 grant, and the Quebec Breast Cancer Foundation. MT was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215–20014) and Cancer Research UK C22770/A31523 (International Alliance for Cancer Early Detection programme). The PRISMA study has been funded by Instituto de Salud Carlos III through the project " PI19/01195″ (Co-funded by European Regional Development Fund "A way to make Europe") and it received the institutional support of CERCA Program (Generalitat de Catalunya). The publication costs of this article were defrayed in part by the payment of publication fees. Therefore, and solely to indicate this fact, this article is hereby marked “advertisement” in accordance with 18 USC section 1734

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Càncer de mama; Genètica del càncer; Factors de riscCáncer de mama; Genética del cáncer; Factores de riesgoBreast cancer; Cancer genetics; Risk factorsBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers