117 research outputs found

    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

    Chikungunya virus-induced autophagy delays caspase-dependent cell death

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    Autophagy is an important survival pathway and can participate in the host response to infection. Studying Chikungunya virus (CHIKV), the causative agent of a major epidemic in India, Southeast Asia, and southern Europe, we reveal a novel mechanism by which autophagy limits cell death and mortality after infection. We use biochemical studies and single cell multispectral assays to demonstrate that direct infection triggers both apoptosis and autophagy. CHIKV-induced autophagy is mediated by the independent induction of endoplasmic reticulum and oxidative stress pathways. These cellular responses delay apoptotic cell death by inducing the IRE1α–XBP-1 pathway in conjunction with ROS-mediated mTOR inhibition. Silencing of autophagy genes resulted in enhanced intrinsic and extrinsic apoptosis, favoring viral propagation in cultured cells. Providing in vivo evidence for the relevance of our findings, Atg16L(HM) mice, which display reduced levels of autophagy, exhibited increased lethality and showed a higher sensitivity to CHIKV-induced apoptosis. Based on kinetic studies and the observation that features of apoptosis and autophagy were mutually exclusive, we conclude that autophagy inhibits caspase-dependent cell death but is ultimately overwhelmed by viral replication. Our study suggests that inducers of autophagy may limit the pathogenesis of acute Chikungunya disease

    Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.

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    Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction

    La rénovation de l'enseignement du français dans les universités en Ukraine (une analyse didactique contextualisée)

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    Depuis les annĂ©es 1990, l Ukraine s est lancĂ©e dans un processus de rĂ©formes touchant tous les secteurs de lasociĂ©tĂ©. Dans les universitĂ©s, de nouvelles approches pĂ©dagogiques pour l amĂ©lioration de l enseignement dufrançais ont Ă©tĂ© mises en place. Dans ce mouvement, un projet de rĂ©novation a Ă©tĂ© dĂ©veloppĂ© par l AttachĂ© deCoopĂ©ration Pour le Français et une vingtaine de dĂ©partements et filiĂšres de français. Quels ont Ă©tĂ© les impacts decette rĂ©novation au sein des universitĂ©s ukrainiennes? À partir d une enquĂȘte de terrain, mettant en lumiĂšre lespratiques d enseignement et les reprĂ©sentations sociolinguistiques des acteurs de l enseignement-apprentissagedu français, cette recherche tente de mieux comprendre les diverses dynamiques Ă  l oeuvre. Elle se pencheessentiellement sur les transformations de l enseignement supĂ©rieur et la diffusion de la langue française. AprĂšsune explicitation de la dĂ©marche Ă©pistĂ©mologique et mĂ©thodologique retenue, une problĂ©matisation du contexteukrainien est proposĂ©e autour de la question du plurilinguisme au sein de la sociĂ©tĂ© et au sein du systĂšme Ă©ducatif.L attention est portĂ©e ensuite sur le dĂ©veloppement de l enseignement du français. Ce travail de contextualisationpermet, d une part, de dĂ©gager les Ă©ventuelles tensions qui entourent et constituent la rĂ©novation del enseignement du français, et, d autre part, d envisager des pistes sociodidactiques rĂ©pondant mieux aux besoinsdes universitĂ©s ukrainiennesSince the 1990s, Ukraine was involved in a process of reform in all sectors of the society. Universities put intopractice new pedagogical approaches to improve French teaching. As a result, a renewal of French teaching wasdeveloped by the AttachĂ© of Cooperation for the development of French language and twenty branch departments.Which were the impacts of this renewal of French teaching in the Ukrainian universities? In the scope of a fieldstudy, we observed and reviewed teaching practices and sociolinguistic representations of the actors in theteaching and learning French language. By this way, we strive to better understand the various dynamics whichcontribute to the development of teaching and learning French language in Ukrainian universities. This study willfocus mainly on the transformations of higher education and the diffusion of French language. First, we will explainthe epistemological and methodological framework. Then, we will question the Ukrainian context in order tounderstand specifities related to plurilinguism in society and in the educational system. On the one hand, we willidentify the possible tensions already existing or emerging from this renewal. On the other hand, we will considerhow teaching French could be contextualized in Ukrainian universities in order to answer the needs of UkrainianuniversitiesRENNES2-Doc.Ă©lectronique (352389902) / SudocSudocFranceF

    Evaluation of sorghum genotypes for agronomic and food quality characteristics for pitimi (rice-like product)

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    Due to the character of the original source materials and the nature of batch digitization, quality control issues may be present in this document. Please report any quality issues you encounter to [email protected], referencing the URI of the item.Bibliography: leaves 74-80.Not availabl

    Point de vue des parents autour de la consultation de leur adolescent chez le médecin généraliste dans les deux Savoies : étude qualitative par entretiens semi-dirigés

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    Introduction: Adolescence is a transitional period. Parents are often with their teenagers during the consultation and preserve a prominent place. Objective: Exploring the parents point of view around the consultation of their adolescents to the General Practitioner, in order to give them the most appropriate place and also to enhance the doctor-parent partnership in adolescent medical care. Methods : Qualitative survey by semi-structured individual interviews of 14 to 17 years old-boy teenager’s parents and 13 to 16 years old-girl teenager’s parents, in these two Savoys area. Results: The period of secondment was more or less well felt by parents. The General Practitioner seemed to be seen as an indispensable assistance for teenagers and parents in this process. For parents, the General Practitioner had to be able to put the teenagers in confidence. They wanted them to help their adolescent to draw out what is in their hearts and to invest their own medical care. Even if for parents, the General Practitioner was not the first resort organically, psychologically or in prevention, they expected him to be competent and able to offer an adolescent comprehensive care. Discussion: General Practitionners are invited to inquire principles of docteur-patient confidentiality and to give informations to the teenagers about it during the consultation. Giving informations about prevention topics to parents can be a way to improve adolescent health. Conclusion: Even if the teenager’s pace has to be respected, the General Practitioner is invited to take initiatives during the consultation in order to empower teenagers and to assist parents in steping down.Introduction : L’adolescence marque la transition vers l’autonomie mĂ©dicale. Durant cette pĂ©riode, le parent, souvent prĂ©sent lors des consultations de mĂ©decine gĂ©nĂ©rale, garde une place prĂ©pondĂ©rante auprĂšs de l’adolescent. Objectif : Explorer le point de vue des parents autour de la consultation de leur adolescent chez le mĂ©decin gĂ©nĂ©raliste. MĂ©thode : Etude qualitative par entretiens individuels semi-dirigĂ©s de parents de garçons de 14 Ă  17 ans et de filles de 13 Ă  16 ans, dans les deux Savoies. Les verbatims ont Ă©tĂ© analysĂ©s par 2 chercheuses pour obtenir une triangulation des donnĂ©es. RĂ©sultats : Les 15 entretiens ont mis en avant l’autonomisation mĂ©dicale de l’enfant Ă©tait pour beaucoup de parents un objectif de l’adolescence malgrĂ© le dĂ©tachement maternel difficile qu’il implique. Selon le parent, le mĂ©decin devait mettre en confiance l’adolescent par ses compĂ©tences humaines et relationnelles. Les parents se considĂ©raient confidents et conseillers avant le mĂ©decin pour la prĂ©vention. Ils attendaient nĂ©anmoins du mĂ©decin qu’il soit compĂ©tent pour prendre en charge l’adolescent dans sa globalitĂ©. Discussion : S’informer du secret mĂ©dical pour en retransmettre les principes Ă  l’adolescent de maniĂšre Ă  libĂ©rer sa parole, et donner des informations en matiĂšre de prĂ©vention au parent autant qu’à l’adolescent sont des pistes que les mĂ©decins sont invitĂ©s Ă  suivre. Conclusion : Selon les parents, le mĂ©decin doit mettre l’adolescent en confiance pour l’aider Ă  s’autonomiser sur le plan mĂ©dical. Si le rythme de l’adolescent doit ĂȘtre respectĂ©, le mĂ©decin doit prendre des initiatives en consultation pour le responsabiliser et aider son parent Ă  passer la main
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