Un instrument de mesure pour faciliter l’évaluation et l’intervention en protection de la jeunesse

L'objectif général de cette étude est de faciliter l'évaluation et l'intervention en contexte de protection de la jeunesse, grâce à l'information recueillie par l'Inventaire concernant le bien-être de l'enfant en relation avec l'exercice des responsabilités parentales (ICBE). Cette information permet notamment de préciser quels alinéas des articles 38 et 38.1 de la Loi sur la protection de la jeunesse peuvent être invoqués pour statuer sur la compromission. De plus, des seuils d'intervention, c'est-à-dire des scores qui permettent d'évaluer si une intervention est requise, sont établis

Le maintien du pouvoir chez la personne âgée hébergée souffrant de déficits cognitifs

Cet article théorique interpelle à la fois la recherche et l’intervention, à l’égard du mieux-être des personnes âgées hébergées présentant des troubles cognitifs associés à des démences dégénératives. Appuyé par la perspective de l’interactionnisme symbolique, il met l’accent sur les interactions entre le personnel soignant (infirmière, infirmière auxiliaire, préposée, ergothérapeute, personnel de réadaptation et des loisirs, travailleuse sociale, etc.) et les proches aidants, dans un objectif de maintien du pouvoir pour et par la personne âgée. Sous l’angle de l’approche centrée sur la personne, qui affirme l’importance de dépasser l’âgisme et l’impuissance quant à la démence, il aborde deux approches : l’approche prothétique élargie et l’approche biographique qui permettent de soutenir l’identité et l’affirmation de soi de la personne âgée hébergée souffrant de déficits cognitifs.This theoretical article presents some thoughts on research and intervention’s frameworks for the well-being of nursing homes’ residents with cognitive deficits associated with dementia. Based on a symbolic interactionism perspective, it examines the relations between the staff (nurses, social worker, rehabilitation worker, homecare employee) and family caregivers, to maintain identity for, by and behalf of the elderly. Adopting a critical perspective on the person-centered care approach for an clearer understanding of the person faced with dementia, the authors call for an integrating framework based on two approaches: a bibliographic approach and the holistic relational prothetic approach, allowing the recognition and support of a positive identity in elders with dementia for critical actions promoting their well-being in nursing homes

Genetic heterogeneity in regional populations of Quebec : parental lineages in the Gaspe Peninsula

Stable colonization of the Gaspe Peninsula by Europeans started in the middle of the 18th century at the time of the British conquest of New France. The earliest settlers were Acadians, escaping British deportation policies, followed by Loyalists from the US, who preferred to remain under British rule after the Declaration of Independence. In the 19th century, the developing fishing industry attracted French Canadians from the St. Lawrence Valley and newcomers from Europe including Channel Islanders from Jersey and Guernsey. We analyzed parental lineages of the self-declared descendants of these four groups of settlers by mtDNA D-loop sequencing and Y-chromosome genotyping and compared them with French, British, and Irish samples. Their representation in terms of haplotype frequency classes reveals different signatures of founder effects, such as a loss of rare haplotypes, modification of intermediate frequency haplotypes, reduction in genetic diversity (seen in Acadians), but also enrichment by admixture. Parental lineages correlate with group identity. Descendants of early settlers, Acadians and Loyalists, preserved their identity more than those of French Canadian and Channel Islander “latecomers.” Although overall genetic diversity among Gaspesians is comparable with their European source populations, FST analysis indicated their greater differentiation. Distinct settlement history, a limited number of founders and relative genetic isolation contributed to the regionalization of the Quebec gene pool that appears less homogenous than usually anticipated

Genomic and genealogical investigation of the French Canadian founder population structure

Characterizing the genetic structure of worldwide populations is important for understanding human history and is essential to the design and analysis of genetic epidemiological studies. In this study, we examined genetic structure and distant relatedness and their effect on the extent of linkage disequilibrium (LD) and homozygosity in the founder population of Quebec (Canada). In the French Canadian founder population, such analysis can be performed using both genomic and genealogical data. We investigated genetic differences, extent of LD, and homozygosity in 140 individuals from seven sub-populations of Quebec characterized by different demographic histories reflecting complex founder events. Genetic findings from genome-wide single nucleotide polymorphism data were correlated with genealogical information on each of these sub-populations. Our genomic data showed significant population structure and relatedness present in the contemporary Quebec population, also reflected in LD and homozygosity levels. Our extended genealogical data corroborated these findings and indicated that this structure is consistent with the settlement patterns involving several founder events. This provides an independent and complementary validation of genomic-based studies of population structure. Combined genomic and genealogical data in the Quebec founder population provide insights into the effects of the interplay of two important sources of bias in genetic epidemiological studies, unrecognized genetic structure and cryptic relatedness

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

The Saguenay–Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in France in the 17th century and continuing within Quebec until the beginning of the 20th century. The genetic structure of the SLSJ population is considered to be the product of a triple founder effect and is characterised by a higher prevalence of some rare genetic diseases. Several studies were performed to elucidate the historical, demographic and genetic background of current SLSJ inhabitants to assess the origins of these rare disorders and their distribution in the population. Thanks to the development of new sequencing technologies, the genes and the variants responsible for the most prevalent conditions were identified. Combined with other resources such as the BALSAC population database, identifying the causal genes and the pathogenic variants allowed to assess the impacts of some of these founder mutations on the population health and to design precision medicine public health strategies based on carrier testing. Furthermore, it stimulated the establishment of many public programmes. We report here a review and an update of a subset of inherited disorders and founder mutations in the SLSJ region. Data were collected from published scientific sources. This work expands the knowledge about the current frequencies of these rare disorders, the frequencies of other rare genetic diseases in this population, the relevance of the carrier tests offered to the population, as well as the current available treatments and research about future therapeutic avenues for these inherited disorders

A genealogical study of essential hypertension with and without obesity in French Canadians

Objectives: To investigate genetic homogeneity in a set of hypertensive families and in subsets chosen for high and low prevalence of obesity; and to compare fasting insulin and lipids, ion transport, and water homeostasis in the obese and lean families. Research methods and procedures: The study was carried out in a relative population isolate of the Saguenay/Lac St. Jean region in Canada. Genetic homogeneity was evaluated with the mean coeffigcients of kinship (phi) and inbreeding (F) computed with ascending genealogies. Serum insulin and lipids were measured after overnight fasting. Total body water was estimated with bioelectrical impedance. Sodium-lithium countertransport and sodium-potassium co-transport were determined in freshly isolated erythrocytes. Results: F and phi were increased in hypertensive families compared with families selected at random. F and phi were further increased within the subsets of obese and lean families. In addition, fasting insulin, total body water, sodium-lithium countertransport, and sodium-potassium co-transport were higher in the obese than in the lean families. The two subsets of families did not differ by fasting lipids. Discussion: In the Saguenay/Lac St. Jean population, the degree of genetic homogeneity was increased in families selected for hypertension, and it was further increased in subsets of hypertensive families with high and low prevalence of obesity. This suggests that hypertension in lean and obese individuals may represent, at least in part, separate genetic entities. Some of the extra genes shared in common within the subsets may contribute to their differences in body weight, insulin sensitivity, ion transport, and water homeostasis

Heterologous Expression of Membrane Proteins: Choosing the Appropriate Host

International audienceBACKGROUND: Membrane proteins are the targets of 50% of drugs, although they only represent 1% of total cellular proteins. The first major bottleneck on the route to their functional and structural characterisation is their overexpression; and simply choosing the right system can involve many months of trial and error. This work is intended as a guide to where to start when faced with heterologous expression of a membrane protein. METHODOLOGY/PRINCIPAL FINDINGS: The expression of 20 membrane proteins, both peripheral and integral, in three prokaryotic (E. coli, L. lactis, R. sphaeroides) and three eukaryotic (A. thaliana, N. benthamiana, Sf9 insect cells) hosts was tested. The proteins tested were of various origins (bacteria, plants and mammals), functions (transporters, receptors, enzymes) and topologies (between 0 and 13 transmembrane segments). The Gateway system was used to clone all 20 genes into appropriate vectors for the hosts to be tested. Culture conditions were optimised for each host, and specific strategies were tested, such as the use of Mistic fusions in E. coli. 17 of the 20 proteins were produced at adequate yields for functional and, in some cases, structural studies. We have formulated general recommendations to assist with choosing an appropriate system based on our observations of protein behaviour in the different hosts. CONCLUSIONS/SIGNIFICANCE: Most of the methods presented here can be quite easily implemented in other laboratories. The results highlight certain factors that should be considered when selecting an expression host. The decision aide provided should help both newcomers and old-hands to select the best system for their favourite membrane protein