145 research outputs found

    Unpacking physically active learning in education: a movement didaktikk approach in teaching?

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    YesThis paper explores teachers’ educational values and how they shape their judgements about physically active learning (PAL). Twenty one teachers from four primary schools in Norway participated in focus groups. By conceptualising PAL as a didaktikk approach, the findings indicated that teachers engaged with PAL in a way that reflected their professional identity and previous experiences with the curriculum. Teachers valued PAL as a way of getting to know pupils in educational situations that were different from those when sedentary. These insights illustrate how PAL, as a didaktikk approach to teaching, can shift teachers’ perceptions of pupils’ knowledge, learning, and identity formation in ways that reflect the wider purposes of education. The paper gives support to a classroom discourse that moves beyond the traditional, sedentary one-way transfer of knowledge towards a more collaborative effort for pupils’ development.This work was supported by Norwegian Directorate for Higher Education and Skills: [Grant Number 2019-1-NO01-KA203-060324]. The authors of this manuscript were supported and funded by the European Union ERASMUS+Strategic Partnership Fund as part of the Activating Classroom Teachers (ACTivate) project

    Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

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    To discover novel genes underlying amyotrophic lateral sclerosis (ALS), we aggregated exomes from 3,864 cases and 7,839 ancestry-matched controls. We observed a significant excess of rare protein-truncating variants among ALS cases, and these variants were concentrated in constrained genes. Through gene level analyses, we replicated known ALS genes including SOD1, NEK1 and FUS. We also observed multiple distinct protein-truncating variants in a highly constrained gene, DNAJC7. The signal in DNAJC7 exceeded genome-wide significance, and immunoblotting assays showed depletion of DNAJC7 protein in fibroblasts in a patient with ALS carrying the p.Arg156Ter variant. DNAJC7 encodes a member of the heat-shock protein family, HSP40, which, along with HSP70 proteins, facilitates protein homeostasis, including folding of newly synthesized polypeptides and clearance of degraded proteins. When these processes are not regulated, misfolding and accumulation of aberrant proteins can occur and lead to protein aggregation, which is a pathological hallmark of neurodegeneration. Our results highlight DNAJC7 as a novel gene for ALS

    The Metric of the Cosmos from Luminosity and Age Data

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    This paper presents the algorithm for determining the Lemaitre-Tolman (LT) model that best fits given datasets for maximum stellar ages, and SNIa luminosities, both as functions of redshift. It then applies it to current cosmological data. Special attention must be given to the handling of the origin, and the region of the maximum diameter distances. As with a previous combination of datasets (galaxy number counts and luminosity distances versus redshift), there are relationships that must hold at the region of the maximum diameter distance, which are unlikely to be obeyed exactly by real data. We show how to make corrections that enable a self-consistent solution to be found. We address the questions of the best way to approximate discrete data with smooth functions, and how to estimate the uncertainties of the output - the 3 free functions that determine a specific LT metric. While current data does not permit any confidence in our results, we show that the method works well, and reasonable LT models do fit with or without a cosmological constant.Comment: 25 pages, 8 figures; matches published versio

    Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability

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    The Psychiatric Genomics Consortium-Posttraumatic Stress Disorder group (PGC-PTSD) combined genome-wide case-control molecular genetic data across 11 multiethnic studies to quantify PTSD heritability, to examine potential shared genetic risk with schizophrenia, bipolar disorder, and major depressive disorder and to identify risk loci for PTSD. Examining 20 730 individuals, we report a molecular genetics-based heritability estimate (h 2 SNP) for European-American females of 29% that is similar to h 2 SNP for schizophrenia and is substantially higher than h 2 SNP in European-American males (estimate not distinguishable from zero). We found strong evidence of overlapping genetic risk between PTSD and schizophrenia along with more modest evidence of overlap with bipolar and major depressive disorder. No single-nucleotide polymorphisms (SNPs) exceeded genome-wide significance in the transethnic (overall) meta-analysis and we do not replicate previously reported associations. Still, SNP-level summary statistics made available here afford the best-available molecular genetic index of PTSD - for both European- and African-American individuals - and can be used in polygenic risk prediction and genetic correlation studies of diverse phenotypes. Publication of summary statistics for 1/410 000 African Americans contributes to the broader goal of increased ancestral diversity in genomic data resources. In sum, the results demonstrate genetic influences on the development of PTSD, identify shared genetic risk between PTSD and other psychiatric disorders and highlight the importance of multiethnic/racial samples. As has been the case with schizophrenia and other complex genetic disorders, larger sample sizes are needed to identify specific risk loci

    Rhetoric But Whose Reality? The Influence of Employability Messages on Employee Mobility Tactics and Work Group Identification

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    Over the last decade, employability has been presented by its advocates as the solution to employment uncertainty, and by its critics as a management rhetoric possessing little relevance to the experiences of most workers. This article suggests that while employability has failed to develop into a key research area, a deeper probing of its message is warranted. In particular, it is suggested that employability may have resonance with employees as workers rather than as employees of their immediate employing organisation. This demands a slightly different approach to studying employability than some other related phenomena such as employee commitment which has resonance only in relation to the employing organization. In adopting a social identity approach, the significance of the employability message is shown not only to lie in employees’ willingness to disassociate from their existing work groups and pursue individual mobility, but also in its capacity to undermine workers’ collective responses to grievances and unwanted organizational changes. A future research agenda is presented which highlights the need to address recent attempts to develop employability expectations among graduate career entrants, and for a closer critical engagement with management writings that attempt to justify the unnecessary espousal of the self development message

    A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder

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    Background: The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear. Methods: We investigated the genetic overlap of PTSD with anthropometric traits and reproductive behaviors and functions in women. The analysis was conducted using female-specific summary statistics from large genome-wide association studies (GWAS) and a cohort of 3577 European American women (966 PTSD cases and 2611 trauma-exposed controls). We applied a high-resolution polygenic score approach and Mendelian randomization analysis to investigate genetic correlations and causal relationships. Results: We observed an inverse association of PTSD with genetically determined anthropometric traits related to body shape, independent of body mass index (BMI). The top association was related to BMI-adjusted waist circumference (WCadj; R = -0.079, P < 0.001, Q = 0.011). We estimated a relative decrease of 64.6% (95% confidence interval = 27.5-82.7) in the risk of PTSD per 1-SD increase in WCadj. MR-Egger regression intercept analysis showed no evidence of pleiotropic effects in this association (Ppleiotropy = 0.979). We also observed associations of genetically determined WCadj with age at first sexual intercourse and number of sexual partners (P = 0.013 and P < 0.001, respectively). Conclusions: There is a putative causal relationship between genetically determined female body shape and PTSD, which could be mediated by evolutionary mechanisms involved in human sexual behaviors

    Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

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    Purpose To determine whether adjuvant tamoxifen treatment for breast cancer (BC) is associated with reduced contralateral breast cancer (CBC) risk for BRCA1 and/or BRCA2 mutation carriers. Methods Analysis of pooled observational cohort data, self-reported at enrollment and at follow-up from the International BRCA1, and BRCA2 Carrier Cohort Study, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, and Breast Cancer Family Registry. Eligible women were BRCA1 and BRCA2 mutation carriers diagnosed with unilateral BC since 1970 and no other invasive cancer or tamoxifen use before first BC. Hazard ratios (HRs) for CBC associated with tamoxifen use were estimated using Cox regression, adjusting for year and age of diagnosis, country, and bilateral oophorectomy and censoring at contralateral mastectomy, death, or loss to follow-up. Results Of 1,583 BRCA1 and 881 BRCA2 mutation carriers, 383 (24%) and 454 (52%), respectively, took tamoxifen after first BC d

    Assessing the impact of community-based interventions on hypertension and diabetes management in three Minnesota communities: Findings from the prospective evaluation of US HealthRise programs

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    Background Community-based health interventions are increasingly viewed as models of care that can bridge healthcare gaps experienced by underserved communities in the United States (US). With this study, we sought to assess the impact of such interventions, as implemented through the US HealthRise program, on hypertension and diabetes among underserved communities in Hennepin, Ramsey, and Rice Counties, Minnesota. Methods and findings HealthRise patient data from June 2016 to October 2018 were assessed relative to comparison patients in a difference-in-difference analysis, quantifying program impact on reducing systolic blood pressure (SBP) and hemoglobin A1c, as well as meeting clinical targets (< 140 mmHg for hypertension, < 8% Al1c for diabetes), beyond routine care. For hypertension, HealthRise participation was associated with SBP reductions in Rice (6.9 mmHg [95% confidence interval: 0.9–12.9]) and higher clinical target achievement in Hennepin (27.3 percentage-points [9.8–44.9]) and Rice (17.1 percentage-points [0.9 to 33.3]). For diabetes, HealthRise was associated with A1c decreases in Ramsey (1.3 [0.4–2.2]). Qualitative data showed the value of home visits alongside clinic-based services; however, challenges remained, including community health worker retention and program sustainability. Conclusions HealthRise participation had positive effects on improving hypertension and diabetes outcomes at some sites. While community-based health programs can help bridge healthcare gaps, they alone cannot fully address structural inequalities experienced by many underserved communities

    Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

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    Background: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2
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