Diagnostic de gouvernance : comité consultatif jeunes

Au sein de la diversité des organisations qui composent l’administration publique, on retrouve plusieurs instances servant d’interface entre l’État et la société civile. Devant composer avec la diversité des intérêts des acteurs, l’État a mis en place une grande variété de lieux agissants comme cadres pour le dialogue social. Au sein de ces instances, se réunissent une diversité d’acteurs : des représentants d’employeurs, de syndicats, d’autres administrations publiques ainsi que des organisations à but non lucratif aux mandats variés. La mise en place et le maintien de tels lieux de concertation, ainsi que les dynamiques permettant l’identification des problématiques et l’émergence de solutions concertées, sont l’objet de la gouvernance collaborative. La gouvernance collaborative réfère à l’ensemble des activités de coordination et de suivi qui permettent de maintenir une institution ou des relations de partenariat. Dans le cadre de ce stage au sein de Comité consultatif Jeunes (CCJ) de la Commission des partenaires du marché du travail (CPMT), nous avons pu prendre part à cette gouvernance collaborative, qui traite des enjeux d’employabilité de la jeunesse québécoise

Le rôle des groupes communautaires LGBT dans la formulation des politiques publiques : le cas de la politique québécoise de lutte contre l'homophobie

Ce mémoire s'intéresse aux rôles des groupes communautaires LGBT et à leur influence sur le processus de formulation de la Politique québécoise de lutte contre l'homophobie. Il analyse les dynamiques entre les groupes représentant les intérêts des minorités sexuelles et de genres et le Gouvernement du Québec, pendant la période 2000-2011. Notre recherche mobilise un cadre théorique basé sur la théorie de la mobilisation des ressources, ainsi qu'une approche qui combine les outils de l'approche corporatiste et de l'approche pluraliste. Sur la base d'une analyse documentaire et de 6 entrevues menées avec des leaders communautaires LGBT et un.e fonctionnaire du Ministère de la justice, l'analyse révèle comment la question de l'homophobie au Québec a contribué à la création d'une relation corporatiste entre l'État et certains des groupes les mieux dotés en ressources. Elle offre également un regard nouveau sur les relations entre les groupes communautaires et les stratégies d'influences employées en fonction de leurs ressourcesThis masters thesis is about the roles of LGBT community groups and their influence on the creation of the Politique québécoise de lutte contre l'homophobie (Quebec's national policy against homophobia.) It analyses the dynamics between the groups representing the interests of sexual and gender minorities and the Quebec government, from 2000 to 2011. Our research uses a theoretical framework based on resource mobilization theory as well as an approach that combines the tools of the corporatist and pluralist approaches. On the basis of a documentary analysis and 6 interviews held with LGBT community leaders as well as official from the Ministry of Justice, the analysis reveals how the issue of homophobia in Quebec contributed to the creation of a corporatist relationship between the State and some of the groups controlling the most resources. It also offers a new perspective on the relations between community groups and the strategies they employ, as a function of their resources, to influence the State

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene expression during neurodevelopment. The male-specific lethal (MSL) complex is a prominent multi-subunit epigenetic regulator of gene expression and is responsible for histone 4 lysine 16 acetylation (H4K16ac). Using exome sequencing, here we identify a cohort of 25 individuals with heterozygous de novo variants in MSL complex member MSL2. MSL2 variants were associated with NDD phenotypes including global developmental delay, intellectual disability, hypotonia, and motor issues such as coordination problems, feeding difficulties, and gait disturbance. Dysmorphisms and behavioral and/or psychiatric conditions, including autism spectrum disorder, and to a lesser extent, seizures, connective tissue disease signs, sleep disturbance, vision problems, and other organ anomalies, were observed in affected individuals. As a molecular biomarker, a sensitive and specific DNA methylation episignature has been established. Induced pluripotent stem cells (iPSCs) derived from three members of our cohort exhibited reduced MSL2 levels. Remarkably, while NDD-associated variants in two other members of the MSL complex (MOF and MSL3) result in reduced H4K16ac, global H4K16ac levels are unchanged in iPSCs with MSL2 variants. Regardless, MSL2 variants altered the expression of MSL2 targets in iPSCs and upon their differentiation to early germ layers. Our study defines an MSL2-related disorder as an NDD with distinguishable clinical features, a specific blood DNA episignature, and a distinct, MSL2-specific molecular etiology compared to other MSL complex-related disorders

Internal mammary lymph node irradiation contributes to heart dose in breast cancer.

We assessed the impact of internal mammary chain radiotherapy (IMC RT) to the radiation dose received by the heart in terms of heart dose-volume histogram (DVH). Thirty-six consecutive breast cancer patients presenting with indications for IMC RT were enrolled in a prospective study. The IMC was treated by a standard conformal RT technique (50 Gy). For each patient, a cardiac DVH was generated by taking into account the sole contribution of IMC RT. Cardiac HDV were compared according to breast cancer laterality and the type of previous surgical procedure, simple mastectomy or breast conservative therapy (BCT). The contribution of IMC RT to the heart dose was significantly greater for patients with left-sided versus right-sided tumors (13.8% and 12.8% for left-sided tumors versus 3.9% and 4.2% for right-sided tumors in the BCT group and the mastectomy group, respectively; p < 0.0001). There was no statistically significant difference in IMC contribution depending on the initial surgical procedure. IMC RT contributes to cardiac dose for both left-sided and right-sided breast cancers, although the relative contribution is greater in patients with left-sided tumors.Journal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Une nouvelle ère pour la radiothérapie avec des avancées prometteuses = A new area for radiotherapy with favourable features

Radiotherapy is a complex medical speciality involving technology research, biology research and clinical research. All these basic researches are performed in order to optimise the management of cancer treatment patients. The aim of the present review is to present radiotherapy as a moving speciality whatever the concerned section. It will be particularly described the new approaches in terms of technology but also clinical developments.English AbstractJournal ArticleReviewSCOPUS: re.jinfo:eu-repo/semantics/publishe

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review

Recurrent 1q21.1 copy number variants (CNVs) have been associated with a wide spectrum of clinical features, ranging from normal phenotype to moderate intellectual disability, with congenital anomalies and dysmorphic features. They are often inherited from unaffected parents and the pathogenicity is difficult to assess. We describe the phenotypic and genotypic data for 34 probands carrying CNVs in the 1q21.1 chromosome region (24 duplications, 8 deletions and 2 triplications). We also reviewed 89 duplications, 114 deletions and 5 triplications described in the literature, at variable 1q21.1 locations. We aimed to identify the most highly associated clinical features to determine the phenotypic expression in affected individuals. Developmental delay or learning disabilities and neuropsychiatric disorders were common in patients with deletions, duplications and triplications of 1q21.1. Mild dysmorphic features common in these CNVs include a prominent forehead, widely spaced eyes and a broad nose. The CNVs were mostly inherited from apparently unaffected parents. Almost half of the CNVs were distal, overlapping with a common minimal region of 1.2 Mb. We delineated the clinical implications of 1q21.1 CNVs and confirmed that these CNVs are likely pathogenic, although subject to incomplete penetrance and variable expressivity. Long‐term follow‐up should be performed to each newly diagnosed case, and prenatal genetic counseling cautiously discussed, as it remains difficult to predict the phenotype in the event of an antenatal diagnosis

Physiological responses in female rescuers during 30 minutes sustained CPR with feedback : a comparison between medicine and physical education students

Objectives: Since fatigue seems related to poorer physical fitness rather than to gender, we analyzed the physiological responses in female medicine and physical education students during a 30 minutes sustained cardiopulmonary resuscitation (CPR) sequence. Methods: Handgrip strength and maximal aerobic power (VO2 max) determined strength and endurance. Twentythree medicine (M) and 27 physical education (PE) female students performed 30 minutes CPR. Compression quality and ECG were continuously monitored, heart rate and non-invasive blood pressure (NIBP) every 2 minutes. Capillary pH, PcCO2, lactate, potassium and sodium bicarbonate were analyzed every 10 minutes. Results: Handgrip strength (PE 37 kg vs. M 35 kg; p 5 cm was comparable in both groups (PE 80%; M 79%; p=0.67). Mean heart rate during CPR was higher in the M group (148 bpm) compared to the PE group (132 bpm; p<0.05). No intergroup differences in NIBP, pH, PcCO2, potassium and sodium bicarbonate were observed. Mean lactate during CPR was higher in the M group: 3.5 mmol/l (SD 1.4) compared to the PE group: 2.5 mmol/l (SD 0.7) (p<0.05). Conclusion : A high quality sustained CPR effort was well tolerated by all female rescuers. Poorer physical condition (M group) resulted in more drop out after 10 and 20 minutes and in a higher heart rate and blood lactate over time. Improving physical condition may result in less physiological strain and lower perceived exertion

Caractérisation phénotypique et génotypique des réarrangements chromosomiques en 1q21.1: description d'une nouvelle cohorte de 34 patients et revue de la littérature

International audienc

A federal audit of the Belgian radiotherapy departments in breast cancer treatment.

The Belgian Federal College of Radiotherapy carried out an external audit of breast cancer patient documentation in the 26 Belgian radiotherapy centres. The objective was to assess compliance with the recommendations regarding minimal requirements for documentation of radiotherapy prescription and administration. All centres volunteered to take part in this audit.Journal ArticleMulticenter Studyinfo:eu-repo/semantics/publishe