1,074 research outputs found

    Female Adolescent Athletes’ Experiences of Body Dissatisfaction Across Individual and Team Sports

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    There is an abundance of research explaining the physical and psychological benefits of sport and exercise. Some research suggests sport and exercise may act as a protective factor against body dissatisfaction for adolescent females (Fernández-Bustos et al., 2019; Soulliard et al. 2019). However, it is unclear if adolescent females’ experiences in specific sport settings contribute to perceptions about their bodies. Therefore, this study investigated body perception and its sociocultural influences in adolescent females in team sports versus adolescent females in individual sports. Three focus groups of team sport athletes and two focus groups of individual sport athletes, ages 14-16 years, were conducted. The following four core themes were identified around influences and messaging in sport related to the athletes’ bodies: relationships among teammates and coaches, self-concept, functionality, and social influence. Based on these themes, the findings indicate adolescent female athletes may view sport as a helpful tool to reduce or counteract body dissatisfaction, particularly in team sport athletes. However, sport may not entirely reduce the negative impact from normative and potentially harmful messages surrounding body weight and image, both of which are pervasive in society, the media, and relationships with influential individuals, such as friends, family, and coaches

    Mobilizing Minds: Integrated knowledge translation and youth engagement in the development of mental health information resources

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    High rates of highly persistent mental health problems can have significantly damaging effects on young adults’ lives, and young adults are less likely to seek treatment for such problems. This article describes a unique Canadian knowledge translation project called Mobilizing Minds: Pathways to Young Adult Mental Health, which aimed to impact not only the mental health literacy of young adults, but to engage young adults in the entire research process from inception to dissemination of results. Knowledge translation is a process that involves producing and assessing the quality of the knowledge to be translated and tailoring the knowledge to be user friendly for particular segments of the population. The article gives particular attention to the ways in which the Mobilizing Minds project was influenced by youth engagement. We discuss three aspects: 1) structures, processes and communication; 2) project products; and 3) challenges and responses. Lessons learned specific to intergenerational collaboration will be of interest to youth as consumers of mental health information and services, mental health practitioners, researchers, and decision-makers seeking to improve mental health at a systemic level.Keywords: knowledge translation, young adult, mental health, participatory research, youth engagement, youth-adult partnership

    Right ventricular volumes and function in thalassemia major patients in the absence of myocardial iron overload

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    <p>Abstract</p> <p>Aim</p> <p>We aimed to define reference ranges for right ventricular (RV) volumes, ejection fraction (EF) in thalassemia major patients (TM) without myocardial iron overload.</p> <p>Methods and results</p> <p>RV volumes, EF and mass were measured in 80 TM patients who had no myocardial iron overload (myocardial T2* > 20 ms by cardiovascular magnetic resonance). All patients were receiving deferoxamine chelation and none had evidence of pulmonary hypertension or other cardiovascular comorbidity. Forty age and sex matched healthy non-anemic volunteers acted as controls. The mean RV EF was higher in TM patients than controls (males 66.2 ± 4.1% vs 61.6 ± 6%, p = 0.0009; females 66.3 ± 5.1% vs 62.6 ± 6.4%, p = 0.017), which yielded a raised lower threshold of normality for RV EF in TM patients (males 58.0% vs 50.0% and females 56.4% vs 50.1%). RV end-diastolic volume index was higher in male TM patients (mean 98.1 ± 17.3 mL vs 88.4 ± 11.2 mL/m2, p = 0.027), with a higher upper limit (132 vs 110 mL/m2) but this difference was of borderline significance for females (mean 86.5 ± 13.6 mL vs 80.3 ± 12.8 mL/m2, p = 0.09, with upper limit of 113 vs 105 mL/m2). The cardiac index was raised in TM patients (males 4.8 ± 1.0 L/min vs 3.4 ± 0.7 L/min, p < 0.0001; females 4.5 ± 0.8 L/min vs 3.2 ± 0.8 L/min, p < 0.0001). No differences in RV mass index were identified.</p> <p>Conclusion</p> <p>The normal ranges for functional RV parameters in TM patients with no evidence of myocardial iron overload differ from healthy non-anemic controls. The new reference RV ranges are important for determining the functional effects of myocardial iron overload in TM patients.</p

    Dissection of artifactual and confounding glial signatures by single-cell sequencing of mouse and human brain

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    A key aspect of nearly all single-cell sequencing experiments is dissociation of intact tissues into single-cell suspensions. While many protocols have been optimized for optimal cell yield, they have often overlooked the effects that dissociation can have on ex vivo gene expression. Here, we demonstrate that use of enzymatic dissociation on brain tissue induces an aberrant ex vivo gene expression signature, most prominently in microglia, which is prevalent in published literature and can substantially confound downstream analyses. To address this issue, we present a rigorously validated protocol that preserves both in vivo transcriptional profiles and cell-type diversity and yield across tissue types and species. We also identify a similar signature in postmortem human brain single-nucleus RNA-sequencing datasets, and show that this signature is induced in freshly isolated human tissue by exposure to elevated temperatures ex vivo. Together, our results provide a methodological solution for preventing artifactual gene expression changes during fresh tissue digestion and a reference for future deeper analysis of the potential confounding states present in postmortem human samples

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

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    Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 base pair region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologues. Using RNA sequencing, we show how 5′ splice-site use is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide

    Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial

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    Background Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy

    Deep resequencing reveals excess rare recent variants consistent with explosive population growth

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    Accurately determining the distribution of rare variants is an important goal of human genetics, but resequencing of a sample large enough for this purpose has been unfeasible until now. Here, we applied Sanger sequencing of genomic PCR amplicons to resequence the diabetes-associated genes KCNJ11 and HHEX in 13,715 people (10,422 European Americans and 3,293 African Americans) and validated amplicons potentially harbouring rare variants using 454 pyrosequencing. We observed far more variation (expected variant-site count ∼578) than would have been predicted on the basis of earlier surveys, which could only capture the distribution of common variants. By comparison with earlier estimates based on common variants, our model shows a clear genetic signal of accelerating population growth, suggesting that humanity harbours a myriad of rare, deleterious variants, and that disease risk and the burden of disease in contemporary populations may be heavily influenced by the distribution of rare variants
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