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The purpose of this study was to identify factors that are associated with experiencing genetic discrimination (GD) among individuals at risk for Huntington disease (HD). Multivariable logistic regression analysis was used to examine factors associated with experiencing GD in data from a cross-sectional, self-report survey of 293 individuals at risk for HD. The study sample comprised 167 genetically tested respondents, and 66 who were not tested (80% response rate). Overall, individuals who learn they are at risk for HD at a younger age (OR = 3.1; 95% CI: 1.5–6.2; P = 0.002), are mutation-positive (OR = 2.8; 95% CI: 1.4–6.0; P = 0.006), or are highly educated (OR = 2.7; 95% CI: 1.4–5.1; P = 0.002) are more likely to experience GD, particularly in insurance, family, and social settings. Further, younger age was associated with discrimination in insurance (OR = 0.97; 95% CI: 0.94–1.00; P = 0.038). This study provides evidence that some people who are at risk for HD were more likely to experience GD than others. Individuals who learned they are at risk for HD at a younger age and those who are mutation-positive were more likely to experience GD, particularly in insurance, family, and social settings. Younger individuals were more likely to experience discrimination in the insurance setting. Overall, highly educated individuals were also more likely to report discrimination. These results provide direction for clinical and family discussions, counseling practice, and policy aimed at mitigating experiences of GD. © 2010 Wiley-Liss, Inc.

Although the role of IQ in developmental dyslexia remains ambiguous, the dominant clinical and research approaches rely on a definition of dyslexia that requires reading skill to be significantly below the level expected given an individual’s IQ. In the study reported here, we used functional MRI (fMRI) to examine whether differences in brain activation during phonological processing that are characteristic of dyslexia were similar or dissimilar in children with poor reading ability who had high IQ scores (discrepant readers) and in children with poor reading ability who had low IQ scores (nondiscrepant readers). In two independent samples including a total of 131 children, using univariate and multivariate pattern analyses, we found that discrepant and nondiscrepant poor readers exhibited similar patterns of reduced activation in brain areas such as left parietotemporal and occipitotemporal regions. These results converge with behavioral evidence indicating that, regardless of IQ, poor readers have similar kinds of reading difficulties in relation to phonological processing.

In the biomedical detection context, plasmonic tilted fiber Bragg gratings (TFBGs) have been demonstrated to be a very accurate and sensitive sensing tool, especially well-adapted for biochemical detection. In this work, we have developed an aptasensor following a triple strategy to improve the overall sensing performances and robustness. Single polarization fiber (SPF) is used as biosensor substrate while the demodulation is based on tracking a peculiar feature of the lower envelope of the cladding mode resonances spectrum. This method is highly sensitive and yields wavelength shifts several tens of times higher than the ones reported so far based on the tracking of individual modes of the spectrum. An amplification of the response is further performed through a sandwich assay by the use of specific antibodies. These improvements have been achieved on a biosensor developed for the detection of the HER2 (Human Epidermal Growth Factor Receptor-2) protein, a relevant breast cancer biomarker. These advanced developments can be very interesting for point-of-care biomedical measurements in a convenient practical way.

Epigaeic beetle assemblages were surveyed using continuous pitfall trapping during the summers of 1992 and 1993 in six widely geographically distributed locations in Alberta’s aspen-mixedwood forests prior to initial forest harvest. Species composition and turnover (β-diversity) were evaluated on several spatial scales ranging from Natural Regions (distance between samples 120–420 km) to pitfall traps (40–60 m). A total of 19,885 ground beetles (Carabidae) representing 40 species and 12,669 rove beetles (non-AleocharinaeStaphylinidae) representing 78 species was collected. Beetle catch, species richness, and diversity differed significantly among the six locations, as did the identity of dominant species. Beetle species composition differed significantly between the Boreal Forest and Foothills Natural Regions for both taxa. Staphylinidae β-diversity differed significantly between Natural Regions, whereas Carabidae β-diversity differed among locations. Climate variables such as number of frost-free days, dry periods, and mean summer temperatures were identified as significant factors influencing beetle assemblages at coarse spatial scales, whereas over- and understory vegetation cover, litter depth, shade, slope, and stand age influenced beetle assemblages at finer spatial scales. Significant interannual variation in assemblage structure was noted for both taxa. Because composition of epigaeic beetle assemblages differed across spatial scales, forest management strategies based only on generalized understanding of a single location will be ineffective as conservation measures. In addition, site history and geographic variation significantly affect species distributions of these two beetle families across the landscape. Thus, we underscore Terry Erwin’s suggestion that biodiversity assessments focused on species assemblages at different spatial scales provide a sound approach for understanding biodiversity change and enhancing conservation of arthropod biodiversity.

The underlying ethos of dbGaP is that access to these data by secondary data analysts facilitates advancement of science. NIH has required that genome-wide association study data be deposited in the Database of Genotypes and Phenotypes (dbGaP) since 2003. In 2013, a proposed updated policy extended this requirement to next-generation sequencing data. However, recent literature and anecdotal reports suggest lingering logistical and ethical concerns about subject identifiability, informed consent, publication embargo enforcement, and difficulty in accessing dbGaP data. We surveyed the International Genetic Epidemiology Society (IGES) membership about their experiences. One hundred and seventy five (175) individuals completed the survey, a response rate of 27%. Of respondents who received data from dbGaP (43%), only 32% perceived the application process as easy but most (75%) received data within five months. Remaining challenges include difficulty in identifying an institutional signing official and an overlong application process. Only 24% of respondents had contributed data to dbGaP. Of these, 31% reported local IRB restrictions on data release; an additional 15% had to reconsent study participants before depositing data. The majority of respondents (56%) disagreed that the publication embargo period was sufficient. In response, we recommend longer embargo periods and use of varied data-sharing models rather than a one-size-fits-all approach.

For more than a decade social science data archives and other providers of social science data have used the new technologies of the World Wide Web and advanced programming systems to integrate their internal workflows and systems for delivering data and other content to their users. In this environment two trends emerged: individual, proprietary systems custom-developed for individual archives (such as that at ICPSR, the IPUMS project, and many others), and general-purpose systems that were designed to be installed and used in many archives (such as Nesstar and the DataVerse Network). The proliferation of such systems, and the increasing cost of developing and maintaining them, has led to proposals for increased open source and community development approaches that would allow archives to share a common architecture and common tools, while allowing extensive customization of workflows and data delivery systems. In October, 2008, a group met to discuss the creation of a Data Archive Technologies Alliance. This group will report on its activities at IASSIST, focusing on a survey of technology needs among data archives and a list of priority activities for the Alliance as it moves forward.

A cross-sectional study investigated risk factors associated with choices to drink bottled water and tap water in rural Saskatchewan. Of 7,500 anonymous postal questionnaires mailed out, 2,065 responses were analyzed using generalized linear mixed models. Those who reported a water advisory (p < 0.001) or living in the area for £10 years (p = 0.01) were more likely to choose bottled water. Those who reported tap water was not safe to drink were more likely to choose bottled water, an effect greater for those who had no aesthetic complaints (p ≤ 0.001), while those with aesthetic complaints were more likely to choose bottled water if they believed the water was safe (p < 0.001). Respondents who treated their water and did not use a community supply were more likely to choose bottled water (p < 0.001), while those who did not treat their water were more likely to choose bottled water regardless of whether a community supply was used (p < 0.001). A similar pattern of risk factors was associated with a decreased likelihood of consuming tap water daily; however, the use of a community water supply was not significant. Understanding the factors involved in drinking water choices could inform public health education efforts regarding water management in rural areas.

Submarine canyons are associated with increased biodiversity, including cold-water coral (CWC) colonies and reefs which are features of high conservation value that are under increasing anthropogenic pressure. Effective spatial management and conservation of these features requires accurate distribution maps and a deeper understanding of the processes that generate the observed distribution patterns. Predictive distribution modelling offers a powerful tool in the deep sea, where surveys are constrained by cost and technological capabilities. To date, predictive distribution modelling in canyons has focussed on integrating groundtruthed acoustically acquired datasets as proxies for environmental variables thought to influence faunal patterns. Physical oceanography is known to influence faunal patterns but has rarely been explicitly included in predictive distribution models of canyon fauna, thereby omitting key information required to adequately capture the species-environment relationships that form the basis of predictive distribution modelling. In this study, acoustic, oceanographic and biological datasets were integrated to undertake high-resolution predictions of benthic megafaunal diversity and CWC distribution within Whittard Canyon, North-East Atlantic. The main aim was to investigate which environmental variables best predict faunal patterns in canyons and to assess whether including oceanographic data improves predictive modelling. General additive models, random forests and boosted regression trees were used to build predictive maps for CWC occurrence, megafaunal abundance, species richness and biodiversity. To provide more robust predictions, ensemble techniques that summarise the variation in predictions and uncertainties between modelling approaches were applied to build final maps. Model performance improved with the inclusion of oceanographic data. Ensemble maps identified areas of elevated current speed that coincided with steep ridges and escarpment walls as the areas most likely to harbour CWCs and increased biodiversity, probably linked to local hydrodynamics interacting with topography to concentrate food resources. This study shows how incorporating oceanographic data into canyon models can broaden our understanding of processes generating faunal patterns and improve the mapping of features of conservation, supporting effective procedures for spatial ecosystem management This work was funded by the NERC MAREMAP programme, the ERC CODEMAP project (Grant no 258482), the EC FP7 IP HERMIONE, DEFRA and the NERC CLASS programme (Grant No NE/R015953/1). Tabitha Pearman is a PhD student in the NERC-funded SPITFIRE Doctoral Training Programme (Grant number NE/L002531/1). Veerle Huvenne currently receives funding from the NERC CLASS programme and from the European Union’s Horizon2020 research and innovation programme iAtlantic project (grant agreement No 818123) With the funding support of the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2019-000928-S), of the Spanish Research Agency (AEI) 17 pages, 8 figures, 4 tables, supplemental material https://doi.org/10.1016/j.pocean.2020.102338 Peer reviewed

Background Born in Bradford (BiB) is a prospective multi-ethnic pregnancy and birth cohort study that was established to examine determinants of health and development during childhood and, subsequently, adult life in a deprived multi-ethnic population in the north of England. Between 2007 and 2010, the BiB cohort recruited 12,453 women who experienced 13,776 pregnancies and 13,858 births, along with 3353 of their partners. Forty five percent of the cohort are of Pakistani origin. Now that children are at primary school, the first full follow-up of the cohort is taking place. The aims of the follow-up are to investigate the determinants of children’s pre-pubertal health and development, including through understanding parents’ health and wellbeing, and to obtain data on exposures in childhood that might influence future health. Methods We are employing a multi-method approach across three data collection arms (community-based family visits, school based physical assessment, and whole classroom cognitive, motor function and wellbeing measures) to follow-up over 9000 BiB children aged 7–11 years and their families between 2017 and 2021. We are collecting detailed parent and child questionnaires, cognitive and sensorimotor assessments, blood pressure, anthropometry and blood samples from parents and children. Dual x-ray absorptiometry body scans, accelerometry and urine samples are collected on subsamples. Informed consent is collected for continued routine data linkage to health, social care and education records. A range of engagement activities are being used to raise the profile of BiB and to disseminate findings. Discussion Our multi-method approach to recruitment and assessment provides an efficient method of collecting rich data on all family members. Data collected will enhance BiB as a resource for the international research community to study the interplay between ethnicity, socioeconomic circumstances and biology in relation to cardiometabolic health, mental health, education, cognitive and sensorimotor development and wellbeing. Electronic supplementary material The online version of this article (10.1186/s12889-019-7222-2) contains supplementary material, which is available to authorized users.

Background:\ud \ud To better understand a potential association of elevated C-reactive protein (CRP) level with progression of chronic kidney disease (CKD), we examined the relationship of CRP level with the development of end-stage renal disease (ESRD) in the Trial to Reduce Cardiovascular Events With Aranesp Therapy (TREAT).\ud \ud Study Design\ud \ud Post hoc analysis of a randomized controlled trial.\ud \ud Setting & Participants:\ud \ud 4,038 patients with type 2 diabetes, CKD, and anemia in TREAT.\ud \ud Predictor:\ud \ud Baseline serum CRP concentrations.\ud \ud Outcomes:\ud \ud The primary outcome was development of ESRD; secondary outcomes included doubling of serum creatinine level, a composite of ESRD/serum creatinine doubling, and a composite of death or ESRD.\ud \ud Measurements:\ud \ud We fit unadjusted and adjusted Cox regression models to test the association of baseline CRP level with time to the development of the outcomes of interest.\ud \ud Results:\ud \ud Mean age of participants was 67 years, 43% were men, and 64% were white. Approximately half (48%) the patients had CRP levels > 3.0 mg/L; 668 patients developed ESRD, and 1,270 developed the composite outcome of death or ESRD. Compared with patients with baseline CRP levels ≤ 3.0 mg/L, those with moderately/markedly elevated CRP levels (≥6.9 mg/L; 24% of patients) had a higher adjusted risk for ESRD (HR, 1.32; 95% CI, 1.07-1.63) and the composite outcome of death or ESRD (HR, 1.41; 95% CI, 1.21-1.64). Although nonsignificant, similar trends were noted in competing-risk models.\ud \ud Limitations:\ud \ud Results may not be generalizable to nondiabetic CKD or diabetic CKD in the absence of anemia.\ud \ud Conclusions:\ud \ud Elevated baseline CRP levels are common in type 2 diabetic patients with anemia and CKD and are associated with the future development of ESRD and the composite of death or ESRD.