La valorisation identitaire par les cercles littéraires chez les étudiants autochtones du cégep de Chicoutimi

Revue de la persévérance et de la réussite scolaires chez les Premiers Peuples, vol. 2, 2016Disponible en anglais dans EDUQ.info sous le titre "Identity Affirmation through Literary Circles among Aboriginal Students at the Cegep de Chicoutimi

Identity Affirmation through Literary Circles among Aboriginal Students at the Cegep de Chicoutimi

Journal of Perseverance and Academic Achievement for First Peoples, vol. 2, 2016Disponible en français dans EDUQ.info sous le titre "La valorisation identitaire par les cercles littéraires chez les étudiants autochtones du cégep de Chicoutimi

Portrait des pratiques soutenant la réussite des étudiants des Premiers Peuples au cégep et à l'université : comment aller plus loin ensemble ?

Publication faisant suite au 4e Colloque sur la persévérance et la réussite scolaires chez les Premiers Peuples qui s'est déroulé à Montréal en octobre 2019. Disponible en français dans EDUQ.info sous le titre "Portrait des pratiques soutenant la réussite des étudiants des Premiers Peuples au cégep et à l'université: comment aller plus loin ensemble?"In response to the calls for action formulated by the Truth and Reconciliation Commission (2015), an increasing number of initiatives are being implemented in institutions of higher education to support First Peoples student success and facilitate their access to education. This requires forums for the stakeholders involved in the indigenization process to nurture dialogue and ensure consistency. With this in mind, the Consortium d’animation sur la persévérance et la réussite en enseignement supérieur (CAPRES) joined forces with the Centre des Premières Nations Nikanite, the Fédération des cégeps and Dawson College to organize an activity addressing these issues in order to develop the Portrait des pratiques, a portrait of practices in support of First Peoples student success in CEGEP and university

Les choix de contenus d'enseignement et d'évaluation de la compétence orale dans les plans de cours de français du collégial : portraits de trois cégeps

Cette recherche pose les premiers échelons de la didactique de l'oral pour l'ordre collégial. Elle fait état de la place qu'occupe l'oral à cet ordre d'enseignement, dans la formation générale en français. Par l'analyse de 36 plans de cours récoltés dans trois cégeps et de six entretiens réalisés auprès d'enseignants de français, ce mémoire propose une description des contenus d'enseignement et d'évaluation de la compétence orale dans le cours de français de la formation générale «propre» au collégial. Les résultats indiquent une disparité de contenus intra et inter-collégiale. L'autonomie professionnelle des enseignants leur permet tout de même de planifier des contenus en accord avec les principaux fondements de la didactique de l'oral. Une formation spécifique à l'oral est néanmoins recommandée. Les questions de l'équité et de l'exhaustivité dans l'évaluation de la compétence orale au collégial demandent également à être éclaircies

Élaboration et appréciation d’un cours sur les perspectives autochtones destiné à la formation à l’enseignement : le cas d’une université québécoise

The 62nd Call to Action of the Truth and Reconciliation Commission of Canada (TRC, 2015) urges governments to "provide the necessary funding to post-secondary institutions to educate teachers on how to integrate Indigenous knowledge and teaching methods into classroom" (p. 256). While the province of Quebec is just beginning this process, several Canadian universities have already begun the process of indigenizing their teacher education programs. This article recounts the journey of including a course on Indigenous perspectives in the Faculty of Education at the University of Sherbrooke, Quebec. The rationale and results are organized around two questions: How can a course on Indigenous perspectives be developed for pre- service teacher education programs? How do teacher candidates who have taken this course feel about it? Methodologically, this study follows a collaborative action research process. Eleven individuals participated in the development of the course and twenty-five teacher candidates provided feedback. Preliminary findings reveal the importance of co-construction and co- development of such a course by and with Indigenous individuals and school organizations. It is apparent that teacher candidates, both Indigenous and non-Indigenous, finished this course satisfied and committed to including Indigenous perspectives in their classrooms.Le 62e appel à l’action de la Commission de vérité et réconciliation (CVR) du Canada incite les gouvernements à « prévoir les fonds nécessaires pour permettre aux établissements d’enseignement postsecondaire de former les enseignants sur la façon d’intégrer les méthodes d’enseignement et les connaissances autochtones dans les salles de classe » (2015, p. 256). Plusieurs universités canadiennes ont déjà entamé l’autochtonisation de leurs programmes de formation à l’enseignement, alors que les universités québécoises francophones commencent à peine ce processus. Cet article relate le parcours d’inclusion d’un cours sur les perspectives autochtones à la Faculté d’éducation de l’Université de Sherbrooke, au Québec. L’argumentaire et les résultats s’articulent autour de ces deux questions : Comment développer un cours sur les perspectives autochtones pour les programmes de formation initiale à l’enseignement? Quelle appréciation en retirent les personnes étudiantes en enseignement ayant suivi ce cours? Méthodologiquement, cette étude suit un processus de recherche-action collaborative. Onze personnes ont participé à l’élaboration du cours et vingt-cinq personnes étudiantes en enseignement ont commenté le cours proposé. Les résultats préliminaires révèlent l’importance de la coconstruction et de la coréalisation d’un tel cours par et avec les personnes autochtones et les organisations scolaires autochtones. Il s’en dégage que les personnes étudiantes en enseignement, qu’elles soient Allochtones ou Autochtone, ressortent de ce cours satisfaites et s’engagent à inclure les perspectives autochtones dans leurs classes

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that single nucleotide variants (SNVs) in MYT1L would cause a phenotype resembling deletion at 2p25.3. To examine this we sought MYT1L SNVs in exome sequencing data from 4, 296 parent-child trios. Further variants were identified through a genematcher-facilitated collaboration. We report 9 patients with MYT1L SNVs (4 loss of function and 5 missense). The phenotype of SNV carriers overlapped with that of 2p25.3 deletion carriers. To identify the transcriptomic consequences of MYT1L loss of function we used CRISPR-Cas9 to create a knockout cell line. Gene Ontology analysis in knockout cells demonstrated altered expression of genes that regulate gene expression and that are localized to the nucleus. These differentially expressed genes were enriched for OMIM disease ontology terms “mental retardation”. To study the developmental effects of MYT1L loss of function we created a zebrafish knockdown using morpholinos. Knockdown zebrafish manifested loss of oxytocin expression in the preoptic neuroendocrine area. This study demonstrates that MYT1L variants are associated with syndromic obesity in humans. The mechanism is related to dysregulated expression of neurodevelopmental genes and altered development of the neuroendocrine hypothalamus

Molecular epidemiology of DFNB1 deafness in France

BACKGROUND: Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. METHODS AND RESULTS: Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. CONCLUSION: Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030