Translation and Validation of an Online Suite of Assessments in American Sign Language

Abstract This article reports on a National Institute on Disability, Independent Living, and Rehabilitation Research (NIDILRR) Disability and Rehabilitation Research Project (DRRP; Federal Grant # 90DP0067). The project is being conducted by investigators in the Substance Abuse Resources and Disability Issues (SARDI) Program in the Boonshoft School of Medicine at Wright State University (WSU), in collaboration with nationally recognized experts on Deaf culture and substance abuse/mental health. The goal of this DRRP is to develop and test an online suite of instruments in American Sign Language (ASL), validated for deaf consumers, assessing substance use, mental health, and occupational interests. The translation process used to validate these assessments in ASL is discussed along with the current project status

Assembling large, complex environmental metagenomes

The large volumes of sequencing data required to sample complex environments deeply pose new challenges to sequence analysis approaches. De novo metagenomic assembly effectively reduces the total amount of data to be analyzed but requires significant computational resources. We apply two pre-assembly filtering approaches, digital normalization and partitioning, to make large metagenome assemblies more comput\ ationaly tractable. Using a human gut mock community dataset, we demonstrate that these methods result in assemblies nearly identical to assemblies from unprocessed data. We then assemble two large soil metagenomes from matched Iowa corn and native prairie soils. The predicted functional content and phylogenetic origin of the assembled contigs indicate significant taxonomic differences despite similar function. The assembly strategies presented are generic and can be extended to any metagenome; full source code is freely available under a BSD license.Comment: Includes supporting informatio

Contribuições do instrumento “Global Appraisal of Individual Needs” para a assistência e pesquisa: revisão da literatura

Objective: To analyze the literature searching for contributions of the instrument“Global Appraisal of Individual Needs” - GAIN for treatment and research on the topic of alcoholand other drugs. Methods: integrative review on the PUBMED database. Results: the instrumenthas good levels of validity and reliability, being based on evidence, and contributes to the careand research related to the harmful use of alcohol and other drugs because it is able to identifyseveral psychosocial problems especially among adolescents and adults. The GAIN is a series ofmeasurements made in support of a progressive therapy practices, including initial assessment,brief interventions, to aid diagnosis, and other factors that will enable a practice focused on theneeds of individual.Objetivo: Analisar as contribuições do instrumento “Global Appraisal of IndividualNeeds” (GAIN), para tratamento e pesquisas sobre a temática do uso de álcool e outras drogas.Métodos: revisão integrativa na base de dados PUBMED. Resultados: O instrumento possuibons índices de validade e confi abilidade, mostrando-se baseado em evidências, e contribui paraa assistência e pesquisas relacionadas ao uso prejudicial de álcool e outras drogas, uma vez que écapaz de identifi car diversos problemas psicossociais principalmente entre adolescentes e adultos.O GAIN consiste em uma série de mensurações, feitas para apoiar de forma progressiva práticasterapêuticas, incluindo análise inicial, intervenções breves, auxílio a diagnósticos, entre outros quepossibilitarão um tratamento focalizado nas necessidades do indivíduo

The Breast Cancer and the Environment Research Centers: Transdisciplinary Research on the Role of the Environment in Breast Cancer Etiology

ObjectivesWe introduce and describe the Breast Cancer and the Environment Research Centers (BCERC), a research network with a transdisciplinary approach to elucidating the role of environmental factors in pubertal development as a window on breast cancer etiology. We describe the organization of four national centers integrated into the BCERC network.Data sourcesInvestigators use a common conceptual framework based on multiple levels of biologic, behavioral, and social organization across the life span. The approach connects basic biologic studies with rodent models and tissue culture systems, a coordinated multicenter epidemiologic cohort study of prepubertal girls, and the integration of community members of breast cancer advocates as key members of the research team to comprise the network.Data extractionRelevant literature is reviewed that describes current knowledge across levels of organization. Individual research questions and hypotheses in BCERC are driven by gaps in our knowledge that are presented at genetic, metabolic, cellular, individual, and environmental (physical and social) levels.Data synthesisAs data collection on the cohort, animal experiments, and analyses proceed, results will be synthesized through a transdisciplinary approach.ConclusionCenter investigators are addressing a large number of specific research questions related to early pubertal onset, which is an established risk factor for breast cancer. BCERC research findings aimed at the primary prevention of breast cancer will be disseminated to the scientific community and to the public by breast cancer advocates, who have been integral members of the research process from its inception

Drug use, mental health and problems related to crime and violence: cross-sectional study

Objective: to investigate the correlation between disorders related to the use of alcohol and other drugs and symptoms of mental disorders, problems related to crime and violence and to age and gender. Methods: cross-sectional descriptive study carried out with 128 users of a Psychosocial Care Center for Alcohol and other Drugs, in the city of São Paulo, interviewed by means of the instrument entitled Global Appraisal of Individual Needs - Short Screener. Univariate and multiple linear regression models were used to verify the correlation between the variables. Results: using univariate regression models, internalizing and externalizing symptoms and problems related to crime/violence proved significant and were included in the multiple model, in which only the internalizing symptoms and problems related to crime and violence remained significant. Conclusions: there is a correlation between the severity of problems related to alcohol use and severity of mental health symptoms and crime and violence in the study sample. The results emphasize the need for an interdisciplinary and intersectional character of attention to users of alcohol and other drugs, since they live in a socially vulnerable environment.Objetivo: verificar a correlação entre os transtornos relacionados ao uso de álcool e outras drogas e sintomas de transtornos mentais, problemas relacionados ao crime e à violência e à idade e ao gênero. Métodos: estudo descritivo transversal, realizado com 128 usuários de um Centro de Atenção Psicossocial em Álcool e outras Drogas, da cidade de São Paulo, entrevistados por meio do instrumento Avaliação Global das Necessidades Individuais - Rastreio Rápido. Realizaram-se modelos de regressão linear univariados e múltiplos para verificar a correlação entre as variáveis. Resultados: nos modelos de regressão univariados, sintomas de internalização, externalização e problemas relacionados a crime/violência mostraram-se significantes e foram incluídos no modelo múltiplo, em que apenas os sintomas de internalização e problemas relacionados ao crime e à violência permaneceram significantes. Conclusões: há correlação entre a gravidade dos problemas relacionados ao uso de álcool e a gravidade de sintomas de saúde mental e crime e violência na amostra estudada. Os resultados enfatizam a necessidade de um caráter interdisciplinar e intersetorial da atenção ao usuário de álcool e outras drogas, uma vez que estão inseridos em ambiente de vulnerabilidade social.Objetivo: investigar la correlación entre los trastornos relacionados con el uso de alcohol y otras drogas y los síntomas de trastornos mentales, problemas relacionados con el crimen y la violencia y a la edad y al género. Métodos: estudio descriptivo transversal, llevado a cabo con 128 usuarios de un Centro de Atención Psicosocial en Alcohol y otras Drogas, en la ciudad de São Paulo, entrevistados a través del instrumento Evaluación Global de Necesidades Individuales - Detección Corta. Se realizaron modelos de regresión lineal univariantes y múltiples para verificar la correlación entre las variables. Resultados: en los modelos de regresión univariantes, los síntomas de internalización, externalización y problemas relacionados con el crimen/la violencia se mostraron significantes y se incluyeron en el modelo múltiple, en que solamente los síntomas de internalización y problemas relacionados con el crimen y la violencia siguieron siendo significativos. Conclusiones: hay correlación entre la gravedad de los problemas relacionados con el consumo de alcohol y la severidad de los síntomas de salud mental y con el crimen y la violencia en la muestra estudiada. Los resultados enfatizan la necesidad de un carácter interdisciplinario e intersectorial de atención al usuario de alcohol y otras drogas, ya que viven en un ambiente de vulnerabilidad social

A New Chicken Genome Assembly Provides Insight into Avian Genome Structure

The importance of the Gallus gallus (chicken) as a model organism and agricultural animal merits a continuation of sequence assembly improvement efforts. We present a new version of the chicken genome assembly (Gallus_gallus-5.0; GCA_000002315.3), built from combined long single molecule sequencing technology, finished BACs, and improved physical maps. In overall assembled bases, we see a gain of 183 Mb, including 16.4 Mb in placed chromosomes with a corresponding gain in the percentage of intact repeat elements characterized. Of the 1.21 Gb genome, we include three previously missing autosomes, GGA30, 31, and 33, and improve sequence contig length 10-fold over the previous Gallus_gallus-4.0. Despite the significant base representation improvements made, 138 Mb of sequence is not yet located to chromosomes. When annotated for gene content, Gallus_gallus-5.0 shows an increase of 4679 annotated genes (2768 noncoding and 1911 protein-coding) over those in Gallus_gallus-4.0. We also revisited the question of what genes are missing in the avian lineage, as assessed by the highest quality avian genome assembly to date, and found that a large fraction of the original set of missing genes are still absent in sequenced bird species. Finally, our new data support a detailed map of MHC-B, encompassing two segments: one with a highly stable gene copy number and another in which the gene copy number is highly variable. The chicken model has been a critical resource for many other fields of study, and this new reference assembly will substantially further these efforts

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

notes: PMCID: PMC3976329This is a freely-available open access publication. Please cite the published version which is available via the DOI link in this record.The length of female reproductive lifespan is associated with multiple adverse outcomes, including breast cancer, cardiovascular disease and infertility. The biological processes that govern the timing of the beginning and end of reproductive life are not well understood. Genetic variants are known to contribute to ∼50% of the variation in both age at menarche and menopause, but to date the known genes explain <15% of the genetic component. We have used genome-wide association in a bivariate meta-analysis of both traits to identify genes involved in determining reproductive lifespan. We observed significant genetic correlation between the two traits using genome-wide complex trait analysis. However, we found no robust statistical evidence for individual variants with an effect on both traits. A novel association with age at menopause was detected for a variant rs1800932 in the mismatch repair gene MSH6 (P = 1.9 × 10(-9)), which was also associated with altered expression levels of MSH6 mRNA in multiple tissues. This study contributes to the growing evidence that DNA repair processes play a key role in ovarian ageing and could be an important therapeutic target for infertility.UK Medical Research CouncilWellcome Trus

Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

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