An Evaluation of the Educational Action Research (EAR) Project, Athlone

Athlone Community Taskforce (ACT) established the Educational Action Research (EAR) Project in 2005 to strengthen the ability of young people in the Athlone area to make a successful transition from primary to post-primary schoolpeer-reviewe

Conceptualising Student Engagement as a Theoretical Framework for Innovative Higher Education Practices : A Literature Review

Funded by the Irish Government (2020-2025), Designing Futures (DF) is a flagship university programme which provides a range of campus-based initiatives with the aim of supporting students to design their own personalised learning journey, equipping them for both their future lives and careers.  It is being implemented and evaluated using an iterative process according to the principles of Educational Design Research (McKenney and Reeves, 2018) and Developmental Evaluation (Patton, 2011).  This paper reports on a systematic review undertaken to scope out relevant theoretical frameworks for the project, in particular those that promote student engagement for all and enhance their belonging on campus.  Informed by a realist approach, the research team worked from an initial set of 2031 articles and to a final set of 53 texts.   The review outcomes are described according to three research questions, the goodness of fit of “student engagement” as a theoretical framework in this context; practices that foster effective student engagement; and research methodologies commonly deployed to promote student engagement.  Finally, a working theoretical model for the Designing Futures project is proposed based on the literature reviewed.  This utility of this model will be tested and refined as data is collected over the life cycle of the project

Youth cafés in Ireland: a best practice guide.

Conceptual model and framework for youth cafés By grounding the ‘youth café’ idea in a conceptual base, it is possible to set out what is unique to the model of youth care provided by such cafés and how it differs to the ‘youth club’ model. Considering this, a youth café can be conceptualised as: offering support, ranging from practical to advisory, for young people in a non-stigmatising way; being based on well-established youth work principles; providing a forum for young people to develop their social networks and thus their social support; playing an important role in offering a secure base for young people; being central in its potential to enable a young person to become or stay resilient; helping connect resilience to civic engagement. One of the most attractive features of a youth café is that it can work with young people across all levels of need, including universal populations through to those ‘at risk’. The 2007 Youth Café Survey commissioned by the OMCYA estimates that there are more than 20 youth cafés in operation around Ireland, with the highest density in Co. Wexford (Donnelly et al, 2009). In the Request for Tender for this research, the OMCYA described the main types of youth cafés found in Ireland as: Type 1 – A place or space to simply ‘hang out’ with friends, to chat, drink coffee or a soft drink, watch TV or movies, surf the Internet, etc. Type 2 – All the above but also with the inclusion of entertainment or leisure services chosen by the young people themselves, together with information on State and local services of interest and relevance to young people. Type 3 – This is perhaps the ideal model and the one that should be aimed for in the medium to long term, where all the above activities and facilities are augmented by the actual provision of services targeted directly at young people. This can include education and training, healthcare (both physical and emotional) and direct targeted assistance

Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. Here, we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression. METHODS: We enrolled 436 patients with HCM (median age, 60 years; 28.8% women) with clinical, genetic, and imaging data. An independent cohort of 60 patients with HCM from Singapore (median age, 59 years; 11% women) and a reference population from the UK Biobank (n=16 691; mean age, 55 years; 52.5% women) were also recruited. We used machine learning to analyze the 3-dimensional structure of the left ventricle from cardiac magnetic resonance imaging and build a tree-based classification of HCM phenotypes. Genotype and mortality risk distributions were projected on the tree. RESULTS: Carriers of pathogenic or likely pathogenic variants for HCM had lower left ventricular mass, but greater basal septal hypertrophy, with reduced life span (mean follow-up, 9.9 years) compared with genotype negative individuals (hazard ratio, 2.66 [95% CI, 1.42-4.96]; P&lt;0.002). Four main phenotypic branches were identified using unsupervised learning of 3-dimensional shape: (1) nonsarcomeric hypertrophy with coexisting hypertension; (2) diffuse and basal asymmetrical hypertrophy associated with outflow tract obstruction; (3) isolated basal hypertrophy; and (4) milder nonobstructive hypertrophy enriched for familial sarcomeric HCM (odds ratio for pathogenic or likely pathogenic variants, 2.18 [95% CI, 1.93-2.28]; P=0.0001). Polygenic risk for HCM was also associated with different patterns and degrees of disease expression. The model was generalizable to an independent cohort (trustworthiness, M1: 0.86-0.88). CONCLUSIONS: We report a data-driven taxonomy of HCM for identifying groups of patients with similar morphology while preserving a continuum of disease severity, genetic risk, and outcomes. This approach will be of value in understanding the causes and consequences of disease diversity.</p

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases) and nine left ventricular (LV) traits (19,260 UK Biobank participants with structurally normal hearts). We identified 16 loci associated with HCM, 13 with DCM and 23 with LV traits. We show strong genetic correlations between LV traits and cardiomy-opathies, with opposing effects in HCM and DCM. Two-sample Mendelian randomization supports a causal association linking increased LV contractility with HCM risk. A polygenic risk score explains a significant portion of phenotypic variability in carriers of HCM-causing rare variants. Our findings thus provide evidence that polygenic risk score may account for variability in Mendelian diseases. More broadly, we provide insights into how genetic pathways may lead to distinct disorders through opposing genetic effects