13 research outputs found

    Access to Justice for Refugees: How Legal Aid and Quality of Counsel Impact Fairness and Efficiency in Canada’s Asylum System

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    This report presents findings from a study exploring relationships between refugee legal aid, quality of counsel, the fairness and efficiency of asylum procedures, and access to justice for refugee claimants in Canada. Legal scholars, jurists and legal associations across Canada have recognized an access to justice “crisis”. The crisis extends to refugee claimants, and is exacerbated by unique vulnerabilities and barriers to justice. This report defines access to justice for refugee claimants in Canada as early and affordable access to high-quality legal representation to both prepare claims and appear before the Immigration and Refugee Board, without systemic or economic barriers; to fully participate in and understand the refugee status determination process; to obtain just and fair outcomes in a timely and efficient manner; and to have recourse for poor quality or abusive representation

    Sports Science Roundtable: Does Sports Science Research Influence Practice?

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    As sports scientists, we claim to make a signifi cant contribution to the body of knowledge that infl uences athletic practice and performance. Is this the reality? At the inaugural congress of the Australian Association for Exercise and Sports Science, a panel of well-credentialed academic experts with experience in the applied environment debated the question, Does sports-science research influence practice? The fi rst task was to defi ne “sports-science research,” and it was generally agreed that it is concerned with providing evidence that improves sports performance. When practices are equally effective, sports scientists also have a role in identifying practices that are safer, more time effi cient, and more enjoyable. There were varying views on the need for sports-science research to be immediately relevant to coaches or athletes. Most agreed on the importance of communicating the results of sports-science research, not only to the academic community but also to coaches and athletes, and the need to encourage both short- and long-term research. The panelists then listed examples of sports-science research that they believe have infl uenced practice, as well as strategies to ensure that sports-science research better infl uences practice

    IMPACT-Global Hip Fracture Audit: Nosocomial infection, risk prediction and prognostication, minimum reporting standards and global collaborative audit. Lessons from an international multicentre study of 7,090 patients conducted in 14 nations during the COVID-19 pandemic

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    Access to Justice for Refugees: How Legal Aid and Quality of Counsel Impact Fairness and Efficiency in Canada’s Asylum System

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    This report presents findings from a study exploring relationships between refugee legal aid, quality of counsel, the fairness and efficiency of asylum procedures, and access to justice for refugee claimants in Canada. Legal scholars, jurists and legal associations across Canada have recognized an access to justice “crisis”. The crisis extends to refugee claimants, and is exacerbated by unique vulnerabilities and barriers to justice. This report defines access to justice for refugee claimants in Canada as early and affordable access to high-quality legal representation to both prepare claims and appear before the Immigration and Refugee Board, without systemic or economic barriers; to fully participate in and understand the refugee status determination process; to obtain just and fair outcomes in a timely and efficient manner; and to have recourse for poor quality or abusive representation

    MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

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    Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates. Nat Genet 2015 Nov; 47(11):1260-3

    Resolving and quantifying nanoscaled phases in amorphous FeF3 by pair distribution fucntion and Mössbauer spectroscopy

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    Probing the atomic structure of materials displaying a lack of long-range order has been a continuous challenge for the material science’s community. X-ray amorphous FeF3 has been shown to be a promising electrode material in Li and Na ion batteries. Providing structural information on this class of compounds is therefore of interest as it can help rationalize the material’s properties and further enabled its optimization. Herein, we used the pair distribution function and Mössbauer spectroscopy to provide unique insights into the atomic structure of amorphous FeF3. The results showed that amorphous FeF3 contained two phases built from corner-sharing of FeF6 octahedra. According to X-ray diffraction data, the PDF was successfully modeled based on two structural models related to the distorted ReO3 and the hexagonal-tungsten-bronze networks of FeF3. The lack of long-range order shown by conventional XRD data and PDF analysis was shown to arise mostly from disorder. This study provides detailed atomic structure with corresponding spectroscopic signature of amorphous phases. Quantitative analysis of both techniques indicated similar trends. This showed that our approach can be employed to determine the structure of other complex materials.REA Grant Agreemen

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

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    ROR alpha, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. Consistent with the human and mouse data, disruption of the D. rerio ortholog, roraa, causes significant reduction in the size of the developing cerebellum. Systematic in vivo complementation studies showed that, whereas wild-type human RORA mRNA could complement the cerebellar pathology, mis sense variants had two distinct pathogenic mechanisms of either haploinsufficiency or a dominant toxic effect according to their localization in the ligand-binding or DNA-binding domains, respectively. This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy. Our combined genetic and functional data highlight the complex mutational landscape at the human RORA locus and suggest that dual mutational effects likely determine phenotypic outcome

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    No full text
    RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. Consistent with the human and mouse data, disruption of the D. rerio ortholog, roraa, causes significant reduction in the size of the developing cerebellum. Systematic in vivo complementation studies showed that, whereas wild-type human RORA mRNA could complement the cerebellar pathology, missense variants had two distinct pathogenic mechanisms of either haploinsufficiency or a dominant toxic effect according to their localization in the ligand-binding or DNA-binding domains, respectively. This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy. Our combined genetic and functional data highlight the complex mutational landscape at the human RORA locus and suggest that dual mutational effects likely determine phenotypic outcome.status: publishe
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