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Despite longstanding calls for social justice-oriented teaching, there remains limited understanding of how to achieve it. This paper reports findings from a research-development project that explored the experiences of UK-based primary science teacher educators participating in a nine-month equity-oriented professional development programme and offers insights for supporting teacher learning for social justice. Analysis of written reflections and open-ended interviews with 15 teacher educators identified three types of reflection that supported justice-oriented practice: personal privilege in relation to race, class, gender and science; the norms and values of educational professional development; and practical implementation of justice-orientated professional development with teachers and schools. We discuss the importance of creating safe and brave spaces for critical reflection for primary science teacher educators and highlight the productive potential of experiences of discomfort that generated humility, empathy and insights that resulted in more equitable practice. The paper underlines the value of supporting educators to embrace discomfort as part of social justice-orientated professional development and calls for a greater valuing of and support for expanded models of professional development that foreground critical reflection and go beyond 'top tips', 'quick fixes', and dominant norms around professional 'politeness'.

Genome-wide association studies (GWASs) have established the contribution of common and low-frequency variants to metabolic blood measurements in the UK Biobank (UKB). To complement existing GWAS findings, we assessed the contribution of rare protein-coding variants in relation to 355 metabolic blood measurements—including 325 predominantly lipid-related nuclear magnetic resonance (NMR)-derived blood metabolite measurements (Nightingale Health Plc) and 30 clinical blood biomarkers—using 412,393 exome sequences from four genetically diverse ancestries in the UKB. Gene-level collapsing analyses were conducted to evaluate a diverse range of rare-variant architectures for the metabolic blood measurements. Altogether, we identified significant associations (p < 1 × 10−8) for 205 distinct genes that involved 1,968 significant relationships for the Nightingale blood metabolite measurements and 331 for the clinical blood biomarkers. These include associations for rare non-synonymous variants in PLIN1 and CREB3L3 with lipid metabolite measurements and SYT7 with creatinine, among others, which may not only provide insights into novel biology but also deepen our understanding of established disease mechanisms. Of the study-wide significant clinical biomarker associations, 40% were not previously detected on analyzing coding variants in a GWAS in the same cohort, reinforcing the importance of studying rare variation to fully understand the genetic architecture of metabolic blood measurements. Blood metabolite measurements can help diagnose and monitor human disease. We analyzed 412,393 UK Biobank exomes to assess rare variant contribution to 355 metabolic blood measurements, revealing significant associations for 205 genes. We provide several examples of how this resource can help elucidate disease mechanisms. [ABSTRACT FROM AUTHOR]

A growing number of genetic loci have been shown to influence individual predisposition to type 2 diabetes (T2D). Despite longstanding interest in understanding whether nonlinear interactions between these risk variants additionally influence T2D risk, the ability to detect significant gene-gene interaction (GGI) effects has been limited to date. To increase power to detect GGI effects, we combined recent advances in the fine-mapping of causal T2D risk variants with the increased sample size available within UK Biobank (375,736 unrelated European participants, including 16,430 with T2D). In addition to conventional single variant-based analysis, we used a complementary polygenic score-based approach, which included partitioned T2D risk scores that capture biological processes relevant to T2D pathophysiology. Nevertheless, we found no evidence in support of GGI effects influencing T2D risk. The current study was powered to detect interactions between common variants with odds ratios >1.2, so these findings place limits on the contribution of GGIs to the overall heritability of T2D. [ABSTRACT FROM AUTHOR]

Although the colonial State and the Christian missionaries shared the same colonial space pursuing their modernist respective projects, they did not really share similar ideas on modernity and civilization. The result often was open conflict. One such event occurred in war-time (1908–14) Lushai hills (Mizoram) when a radical Welsh missionary demanded that the colonial administration abolish an institution which he saw as ‘slavery’. The administration denied the existence of any such institution and in turn expelled the missionary for interfering in tribal life. This article examines the construction of ‘slavery’ and larger implication of understanding of indigenous socio-cultural institutions by westerners, but also intervenes on the larger debate of using enlightenment-rationalist paradigms in disrupting indigenous traditions and institutions. [ABSTRACT FROM PUBLISHER]

Aims To investigate the association between estimated glomerular filtration rate (eGFR) and total and cardiovascular mortality in a population-based cohort of diabetic subjects. Methods A longitudinal study using a population-based district diabetes register comprising 3288 subjects in South Tees, UK. The eGFR was calculated using the Modification of Diet in Renal Disease (MDRD) study equation. Patients were stratified by baseline eGFR into five stages as per the National Kidney Foundation guidelines: Stage 1, eGFR > 90; Stage 2, eGFR 60–89; Stage 3, eGFR 30–59; Stage 4, eGFR 15–29; and Stage 5, eGFR < 15 ml/min per 1.73 m2. Main outcome was all-cause and cardiovascular mortality between 1 January 1994 and 31 July 2004. Results At baseline, mean age (58.4 years) differed between groups. Persons with lower eGFR were older ( P < 0.001). Thirty-six percent ( n = 1193, males 56%) had died by 10 years (cardiovascular cause in 60%). Median follow-up was 10.5 years amounting to 28 342 person years. Stages 4 and 5 (eGFR ≤ 29 ml/min per 1.73 m2) were amalgamated for mortality analysis. Total and cardiovascular mortality increased with reduced eGFR. Adjusted hazard ratios (HR) [95% confidence interval (CI)] for all-cause mortality comparing groups 2 and 3, and 4 and 5 combined with group 1 were 1.28 (1.02, 1.60), 2.58 (2.05, 3.25) and 6.42 (4.25, 9.71), respectively. Adjusted HRs (95% CI) for mortality due to circulatory disease comparing groups 2 and 3, and 4 and 5 combined with group 1 were 1.50 (1.10, 2.06), 3.32 (2.41, 4.58) and 7.99 (4.69, 13.62), respectively. Conclusions In diabetic subjects, mortality increases significantly with reduced GFR. Low eGFR identifies patients at high risk of cardiovascular mortality who should be targeted for aggressive risk factor modification. [ABSTRACT FROM AUTHOR]

Abstract Aims To document uptake of influenza and pneumococcal vaccination in diabetic patients attending secondary care in the Northern Region, and to explore influencing factors. Methods Diabetic patients attending out-patients in Middlesbrough, Gateshead and Newcastle were questioned from October 1999 to March 2000. Physicians enquired about influenza and pneumococcal vaccination status using a standardized questionnaire. Data collected included age, year of diagnosis, duration of diabetes, type of diabetes, and the presence of other recognized indications for vaccination. Results Two hundred and sixty-eight diabetic patients, 42% (113/268) with Type 1 diabetes, 34% (91/268) with ischaemic heart disease, 10% (26/268) with chronic pulmonary disease (CPD) and 10% (27/268) with chronic renal disease, were questioned. Thirty-five percent (93/268) of patients received both influenza and pneumococcal vaccines, 24% (64/268) received only influenza vaccine, and none received pneumococcus vaccine alone. Most vaccinees received advice about influenza and pneumococcal vaccination from their general practitioner (90% (142/157) and 87% (81/93), respectively). A large number of non-vaccinees were unaware of the need for influenza and pneumococcal vaccination (69% (76/111) and 91% (159/175), respectively). Using multiple logistic regression co-existing CPD increased the odds of receiving influenza (odds ratio (OR) (95% confidence interval (CI)) = 1.99 (1.07–14.12)) or pneumococcal (OR = 3.77 (1.69–21.76)) vaccination. Furthermore, each 1-year increase in age increased the chance of receiving influenza or pneumococcal vaccination by 22% (OR = 1.22 (1.09–1.67) and 29% (OR = 1.29 (1.07–1.72)), respectively. Conclusions Vaccination rates in these diabetic patients are unsatisfactory. Secondary care health professionals might increase rates by raising the topic in consultations. Diabet. Med. 18, 599–603 (2001). [ABSTRACT FROM AUTHOR]

The provision of radio medical advice by the National Health Service for British coastal waters has developed in an ad hoc fashion. In 1999, the closure of one of the two centres providing such advice led to unexpected problems. The demographic characteristics of the offshore population covered by each centre were markedly different and this resulted in a different spectrum of medical emergencies presenting to the sole remaining centre. Subsequent data collection of the details of medical emergencies presenting from offshore allowed an audit to inform the development of training packages for both base and remote practitioners. This has led to an ongoing national rationalization of ship-to-shore radio medical advice for the UK. [ABSTRACT FROM AUTHOR]

Telomeres protect chromosome ends from damage and their length is linked with human disease and aging. We developed a joint telomere length metric, combining quantitative PCR and whole-genome sequencing measurements from 462,666 UK Biobank participants. This metric increased SNP heritability, suggesting that it better captures genetic regulation of telomere length. Exome-wide rare-variant and gene-level collapsing association studies identified 64 variants and 30 genes significantly associated with telomere length, including allelic series in ACD and RTEL1. Notably, 16% of these genes are known drivers of clonal hematopoiesis-an age-related somatic mosaicism associated with myeloid cancers and several nonmalignant diseases. Somatic variant analyses revealed gene-specific associations with telomere length, including lengthened telomeres in individuals with large SRSF2-mutant clones, compared with shortened telomeres in individuals with clonal expansions driven by other genes. Collectively, our findings demonstrate the impact of rare variants on telomere length, with larger effects observed among genes also associated with clonal hematopoiesis., (© 2024. The Author(s).)

Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variants to common disease remains relatively unexplored. The UK Biobank contains detailed phenotypic data linked to medical records for approximately 500,000 participants, offering an unprecedented opportunity to evaluate the effect of rare variation on a broad collection of traits 1,2 . Here we study the relationships between rare protein-coding variants and 17,361 binary and 1,419 quantitative phenotypes using exome sequencing data from 269,171 UK Biobank participants of European ancestry. Gene-based collapsing analyses revealed 1,703 statistically significant gene-phenotype associations for binary traits, with a median odds ratio of 12.4. Furthermore, 83% of these associations were undetectable via single-variant association tests, emphasizing the power of gene-based collapsing analysis in the setting of high allelic heterogeneity. Gene-phenotype associations were also significantly enriched for loss-of-function-mediated traits and approved drug targets. Finally, we performed ancestry-specific and pan-ancestry collapsing analyses using exome sequencing data from 11,933 UK Biobank participants of African, East Asian or South Asian ancestry. Our results highlight a significant contribution of rare variants to common disease. Summary statistics are publicly available through an interactive portal ( http://azphewas.com/ )., (© 2021. The Author(s), under exclusive licence to Springer Nature Limited.)

Glaucoma is a major cause of blindness in the world. To date, common genetic variants associated with glaucoma only explain a small proportion of its heritability. We performed a genome-wide association study of intra-ocular pressure (IOP), an underlying endophenotype for glaucoma. The discovery phase of the study was carried out in the TwinsUK cohort (N = 2774) analyzing association between IOP and single nucleotide polymorphisms (SNPs) imputed to HapMap2. The results were validated in 12 independent replication cohorts of European ancestry (combined N = 22 789) that were a part of the International Glaucoma Genetics Consortium. Expression quantitative trait locus (eQTL) analyses of the significantly associated SNPs were performed using data from the Multiple Tissue Human Expression Resource (MuTHER) Study. In the TwinsUK cohort, IOP was significantly associated with a number of SNPs at 9q33.3 (P = 3.48 × 10(-8) for rs2286885, the most significantly associated SNP at this locus), within the genomic sequence of the FAM125B gene. Independent replication in a composite panel of 12 cohorts revealed consistent direction of effect and significant association (P = 0.003, for fixed-effect meta-analysis). Suggestive evidence for an eQTL effect of rs2286885 was observed for one of the probes targeting the coding region of the FAM125B gene. This gene codes for a component of a membrane complex involved in vesicular trafficking process, a function similar to that of the Caveolin genes (CAV1 and CAV2) which have previously been associated with primary open-angle glaucoma. This study suggests a novel association between SNPs in FAM125B and IOP in the TwinsUK cohort, though further studies to elucidate the functional role of this gene in glaucoma are necessary., (© The Author 2014. Published by Oxford University Press.)