13 research outputs found

    Esthétique et pragmatique de la série contemporaine québécoise : le cas des Invincibles

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    Dans ce mĂ©moire, nous proposons une analyse de la tĂ©lĂ©sĂ©rie contemporaine quĂ©bĂ©coise. Au cours des derniĂšres annĂ©es, les tĂ©lĂ©sĂ©ries se sont multipliĂ©es et se sont considĂ©rablement raffinĂ©es, tant sur le plan du contenu que de la forme. Pour ce faire, nous effectuons une analyse de cas de la sĂ©rie Les Invincibles, rĂ©alisĂ©e par Jean-François Rivard, qui fut l'une des Ă©missions marquantes des dix derniĂšres annĂ©es dans le paysage tĂ©lĂ©visuel quĂ©bĂ©cois. Nous analysons cette sĂ©rie tant d'un point de vue formel qu'en termes de contenu afin de dĂ©montrer quelles sont les stratĂ©gies d'Ă©nonciation utilisĂ©es par les rĂ©alisateurs dans la sĂ©rie contemporaine. Notre cadre thĂ©orique s'appuie sur la thĂ©orie sĂ©mio-pragmatique et notre mĂ©thodologie s'effectue Ă  l'aide d'une grille d'analyse en trois axes gĂ©nĂ©raux : l'axe sĂ©mantico-syntaxique, l'axe transtextuel et l'axe pragmatique. Nos rĂ©sultats montrent qu'il existe dans la sĂ©rie une volontĂ© de briser les conventions du genre fictionnel, les normes et les standards du tĂ©lĂ©roman classique. Cette sĂ©rie est marquĂ©e par une forte rĂ©flexivitĂ© et nous permet de conclure qu'elle s'ancre dans le genre tĂ©lĂ©visuel au second degrĂ©.\ud ______________________________________________________________________________ \ud MOTS-CLÉS DE L’AUTEUR : tĂ©lĂ©sĂ©rie, fiction, rĂ©flexivitĂ©, Ă©nonciation, Les Invincibles

    A collaborative model to implement flexible, accessible and efficient oncogenetic services for hereditary breast and ovarian cancer : the C-MOnGene study

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    Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics

    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

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    BACKGROUND: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. METHODS: We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder. RESULTS: Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene. CONCLUSIONS: The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals

    L'Inde et ses avatars:Pluralité d'une puissance

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    Terre paradoxale, multiple, Ă  l’opposĂ© de notre univers familier, l’Inde est largement perçue Ă  travers les stĂ©rĂ©otypes. On trouvera dans ce livre - le premier du genre en français - les repĂšres essentiels pour comprendre un pays Ă  la mesure d’un continent, dont les dĂ©fis seront inĂ©vitablement les nĂŽtres. Les auteurs exposent tour Ă  tour les dimensions socioĂ©conomiques, politiques et culturelles d’une Inde « globalisante » qui a marquĂ© et marquera l’histoire tant par sa philosophie que par son Ă©conomie vouĂ©e Ă  la croissance. Globalisante aussi, car l’Inde ne se limite pas Ă  ses frontiĂšres : sa diaspora et ses relations extĂ©rieures forgeront un monde bien diffĂ©rent dans les annĂ©es Ă  venir. (RĂ©sumĂ© Ă©diteur

    Parents dĂ©pendants Ă  l’alcool et aux drogues : CaractĂ©ristiques associĂ©es Ă  l’abandon d’un programme d’entrainement aux habiletĂ©s parentales

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    Si plusieurs programmes d’entrainement aux habiletĂ©s parentales (PEHP) sont reconnus comme efficaces, ils ne rĂ©ussissent pas toujours Ă  retenir les familles qui pourraient le plus en bĂ©nĂ©ficier. La prĂ©sente Ă©tude a pour objectif gĂ©nĂ©ral de mieux comprendre les enjeux entourant l’engagement dans un PEHP des familles dont les parents sont aux prises avec une dĂ©pendance. Provenant de quatre centres de rĂ©adaptation en dĂ©pendance du QuĂ©bec, l’échantillon est composĂ© de 47 familles ayant initialement acceptĂ© de participer Ă  un PEHP. Parmi ces familles, 18 n’ont pas terminĂ© le programme. Les rĂ©sultats indiquent que comparĂ©s aux parents qui ont complĂ©tĂ© le programme, ceux qui l’ont abandonnĂ© prĂ©sentent une moins bonne situation professionnelle, ils sont plus nombreux Ă  prĂ©senter une supervision parentale lacunaire, un manque de communication entre les membres de la famille et un dysfonctionnement familial. De plus, les familles qui ont abandonnĂ© le programme ont vĂ©cu plus de stress au cours de la derniĂšre annĂ©e. Ces rĂ©sultats suggĂšrent des pistes pour favoriser l’engagement des familles Ă  plus haut risque d’abandonner les PEHP prĂ©cocement, tel un soutien ciblĂ© lors d’évĂšnements stressants.Even if various parenting skills training programs (PSTP) are evidence-based, they do not always succeed in engaging families who need it most. The general objective of this study is to better understand issues related to engagement in PSTP for families where parents are struggling with alcohol or another drug addiction. Coming from four Quebec rehabilitation centres, the sample is composed of 47 families who initially agreed to participate in PSTP. Of these families, 18 did not complete the program. The results indicate that, compared to parents who have completed the program, those who have dropped out are characterized by a worse job status, lack of parental supervision, lack of communication between family members, and family dysfunction. In addition, families who dropped out of the program experienced more stress during the previous year. The results suggest indicators to identify families at risk of abandoning PSTP and also guide the development of therapeutic strategies to facilitate parents’ engagement in services

    L’Inde et ses avatars

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    Terre paradoxale, multiple, Ă  l’opposĂ© de notre univers familier, l’Inde est largement perçue Ă  travers les stĂ©rĂ©otypes. On trouvera dans ce livre - le premier du genre en français - les repĂšres essentiels pour comprendre un pays Ă  la mesure d’un continent, dont les dĂ©fis seront inĂ©vitablement les nĂŽtres. Les auteurs exposent tour Ă  tour les dimensions socioĂ©conomiques, politiques et culturelles d’une Inde « globalisante » qui a marquĂ© et marquera l’histoire tant par sa philosophie que par son Ă©conomie vouĂ©e Ă  la croissance. Globalisante aussi, car l’Inde ne se limite pas Ă  ses frontiĂšres : sa diaspora et ses relations extĂ©rieures forgeront un monde bien diffĂ©rent dans les annĂ©es Ă  venir
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