Towards a data sharing Code of Conduct for international genomic research

Data sharing is increasingly regarded as an ethical and scientific imperative that advances knowledge and thereby respects the contributions of the participants. Because of this and the ever-increasing amount of data access requests currently filed around the world, three groups have decided to develop data sharing principles specific to the context of collaborative international genomics research. These groups are: the international Public Population Project in Genomics (P3G), an international consortium of projects partaking in large-scale genetic epidemiological studies and biobanks; the European Network for Genetic and Genomic Epidemiology (ENGAGE), a research project aiming to translate data from large-scale epidemiological research initiatives into relevant clinical information; and the Centre for Health, Law and Emerging Technologies (HeLEX). We propose seven different principles and a preliminary international data sharing Code of Conduct for ongoing discussion

L’EROP : 10 ans pour le rétablissement des oiseaux de proie au Québec

L’Équipe de rétablissement des oiseaux de proie du Québec (EROP) a été fondée en 2004, à la suite de la fusion des équipes de rétablissement du faucon pèlerin (Falco peregrinus), du pygargue à tête blanche (Haliaeetus leucocephalus) et de l’aigle royal (Aquila chrysaetos). À ces espèces d’intérêt pour l’EROP s’est ajouté récemment le hibou des marais (Asio flammeus). À l’aide des plans de rétablissement de chacune des espèces, l’EROP veille à la mise en oeuvre de mesures de conservation (p. ex. acquisition de connaissances, sensibilisation, protection) visant à redresser la situation des populations d’oiseaux de proie en situation précaire au Québec. Cet article présente le mandat, le mode de fonctionnement et les principales réalisations de l’EROP au cours de la dernière décennie. The Québec raptor recovery team (EROP) was established in 2004 following the merger of the peregrine falcon (Falcoperegrinus), bald eagle (Haliaeetus leucocephalus) and golden eagle (Aquilachrysaetos) recovery teams. Recently, the short-eared owl (Asioflammeus) has also been added to the list of species covered by EROP. The team aims to foster conservation measures (e.g., data collection, public awareness and protection) to improve the population status of endangered birds of prey, and achieves this through the publication of species recovery plans. This article outlines the mission, and the working and main achievements of EROP over the past decade

Modulation of Kv4.3 current by accessory subunits

AbstractKv4.3 encodes the pore-forming subunit of the cardiac transient outward potassium current (Ito). hKv4.3-encoded current does not fully replicate cardiac Ito, suggesting a functionally significant role for accessory subunits. KChIP2 associates with Kv4.3 and modifies hKv4.3-encoded currents but does not replicate native Ito. We examined the effect of several ancillary subunits expressed in the heart on hKv4.3-encoded currents. Remarkably, the ancillary subunits Kvβ3, minK, MiRP-1, the Na channel β1 and KChIP2 increased the density and modified the gating of hKv4.3 current. hKv4.3 promiscuously assembles with ancillary subunits in vitro, functionally modifying the encoded currents; however, the physiological significance is uncertain

Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa

International audienceBackground: Pathogenic variants in SCN5A, the gene encoding the cardiac Na + channel α-subunit Nav1.5, result in life-threatening arrhythmias, e.g., Brugada syndrome, cardiac conduction defects and long QT syndrome. This variety of phenotypes is underlied by the fact that each Nav1.5 mutation has unique consequences on the channel trafficking and gating capabilities. Recently, we established that sodium channel α-subunits Nav1.5, Nav1.1 and Nav1.2 could dimerize, thus, explaining the potency of some Nav1.5 pathogenic variants to exert dominant-negative effect on WT channels, either by trafficking deficiency or coupled gating. Objective: The present study sought to examine whether Nav1.5 channels can cooperate, or transcomplement each other, to rescue the Na + current (INa). Such a mechanism could contribute to explain the genotype-phenotype discordance often observed in family members carrying Na +-channel pathogenic variants. Methods: Patch-clamp and immunocytochemistry analysis were used to investigate biophysical properties and cellular localization in HEK293 cells and rat neonatal cardiomyocytes transfected respectively with WT and 3 mutant channels chosen for their particular trafficking and/or gating properties. Results: As previously reported, the mutant channels G1743R and R878C expressed alone in HEK293 cells both abolished INa, G1743R through a trafficking deficiency and R878C through a gating deficiency. Here, we showed that coexpression of both G1743R and R878C nonfunctioning channels resulted in a partial rescue of INa, demonstrating a cooperative trafficking of Nav1.5 α-subunits. Surprisingly, we also showed a cooperation mechanism whereby the R878C gatingdeficient channel was able to rescue the slowed inactivation kinetics of the C-terminal truncated R1860X (∆Cter) variant, suggesting coupled gating. Conclusions: Altogether, our results add to the evidence that Nav channels are able to interact and regulate each other's trafficking and gating, a feature that likely contributes to explain the genotype-phenotype discordance often observed between members of a kindred carrying a Na +-channel pathogenic variant

Antenatal nephromegaly and propionic acidemia: a case report

International audienceBACKGROUND:Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far.CASE PRESENTATION:We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life. At 3 months of life, he presented with tachypnea and altered mental status, which lead to the diagnosis of PA. The renal ultrasound at 8 months of life, after a symptomatic treatment of PA had been initiated, showed a regression of the renal abnormalities.CONCLUSION:This case describes PA as a novel cause of large and hyperechogenic kidneys in the antenatal period. It suggests that, when confronted to fetal nephromegaly, hyperechogenic kidneys and risk factors of metabolic disease such as consanguineous parents, PA should be considered, and a prenatal test should be proposed

Psychosocial factors and intention to use the nutrition care process among dietitians and dietetic interns

Purpose: The theory of planned behaviour was used to explore the factors (i.e., attitude, subjective norm, and perceived behavioural control) affecting the intention of dietetic internship educators, new dietetic graduates, and dietetic interns to use the nutrition care process (NCP) in their clinical practice. Methods: Participants (n=55) were recruited from the Bachelor of Science in Nutrition program at Université Laval. They completed an online quantitative questionnaire assessing their intention to use the NCP in their clinical practice, as well as associated psychosocial factors. Open-ended questions were also used to gain a further understanding of the salient beliefs underlying participants’ intention to use the NCP. Results: Intention to use the NCP in practice and associated psychosocial factors were similar and favourable within the three participant groups. Subjective norm and perceived behavioural control were the psychosocial factors that significantly predicted an intention to use the NCP. The most cited perceived barrier to use of the NCP was a lack of knowledge, while the most cited facilitator was training opportunities. Conclusions: Our results indicate that successful implementation of the NCP will likely require the development of theoretical and practical training activities for both pre-licensure students and experienced dietitians.Objectif : La théorie du comportement planifié a été employée afin d’explorer les facteurs (c.-à-d. attitude, norme subjective et perception de contrôle comportemental) influençant l’intention des chargés d’enseignement clinique en diététique, des nouveaux diplômés en diététique et des stagiaires en diététique d’utiliser le processus de soins en nutrition (PSN) dans leur pratique clinique. Méthodes : Les participants (n = 55) ont été recrutés dans le programme de baccalauréat en nutrition de l’Université Laval. Ils ont rempli un questionnaire quantitatif en ligne évaluant leur intention d’utiliser le PSN dans leur pratique clinique de même que les facteurs psychosociaux associés. Des questions ouvertes ont également été employées afin de mieux comprendre les croyances saillantes sous-jacentes à l’intention des participants d’utiliser le PSN. Résultats : L’intention d’utiliser le PSN dans la pratique ainsi que les facteurs psychosociaux associés étaient similaires et favorables dans les trois groupes de participants. La norme subjective et la perception de contrôle comportemental étaient les facteurs psychosociaux qui permettaient de prédire de façon significative l’intention d’utiliser le PSN. La contrainte perçue à l’utilisation du PSN la plus souvent citée était un manque de connaissances, alors que l’élément facilitateur le plus cité était les occasions de formation. Conclusions : Nos résultats indiquent qu’une implantation réussie du PSN nécessitera probablement la mise au point d’activités de formation théorique et pratique à l’intention des étudiants n’ayant pas encore reçu leur autorisation d’exercer et des diététistes expérimentés

Determining thermal dust emission from Planck HFI data using a sparse, parametric technique

International audienceContext. The Planck data releases have provided the community with submillimetre and full-sky radio observations at unprecedented resolutions. We make use of the Planck 353, 545, and 857 GHz maps alongside the IRAS 3000 GHz map. These maps contain information on the cosmic microwave background (CMB), cosmic infrared background (CIB), extragalactic point sources, and diffuse thermal dust emission.Aims. We aim to determine the modified black-body (MBB) model parameters of thermal dust emission in total intensity and produce all-sky maps of pure thermal dust, having separated this Galactic component from the CMB and CIB.Methods. This separation is completed using a new, sparsity-based, parametric method, Parameter Recovery Exploiting Model Informed Sparse Estimates (premise). The method is comprised of three main stages: 1) filtering the raw data to reduce the effect of the CIB on the MBB fit; 2) fitting an MBB model to the filtered data across super-pixels of various sizes determined by the algorithm itself; and 3) refining these super-pixel estimates into full-resolution maps of the MBB parameters.Results. We present our maps of MBB temperature, spectral index, and optical depth at 5 arcmin resolution and compare our estimates to those of GNILC and to the two-step MBB fit presented by the Planck Collaboration in 2013.Conclusions. By exploiting sparsity we avoid the need for smoothing, enabling us to produce the first full-resolution MBB parameter maps from intensity measurements of thermal dust emission. We consider the premise parameter estimates to be competitive with the existing state-of-the-art solutions, outperforming these methods within low signal-to-noise regions as we account for the CIB without removing thermal dust emission through oversmoothing.Key words: cosmic background radiation / dust, extinction / methods: data analysis⋆ Parameter maps are only available at the CDS via anonymous ftp to cdsarc.u-strasbg.fr (130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/623/A2

Expérience d’enseignants à la réalisation d’un dispositif numérique de formation basée sur la concordance de jugement

L’article présente l’expérience d’enseignants du collégial à la réalisation d’un dispositif numérique de formation basée sur la concordance de jugement en enseignement comme mode de soutien au développement professionnel continu. Dans ce dispositif, l’enseignant effectue des jugements dans des situations apparentées à sa pratique. Il peut ensuite vérifier si ses jugements se rapprochent de ceux d’un panel de référence ayant préalablement répondu aux mêmes questions. L’expérience d’avoir suivi la formation a suscité chez les enseignants une réflexion sur des décisions pédagogiques complexes, comme l’évaluation des apprentissages. L’utilisation pérenne du dispositif est suggérée dans une communauté de pratique en enseignement.This article presents college teachers’ experience of completing an online concordance-of-judgment learning tool as a way of supporting continuous professional development. In this tool, teachers make judgments in situations related to their practice. Then, teachers could validate whether their judgments are similar to those of a reference panel having previously answered the same questions. The experience of completing the tool led teachers to a reflection on several complex pedagogical decisions, such as learning assessment. The sustainable use of the device is suggested within a community of practice