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Background: The Delta Oasis program was launched in New Brunswick in 2006 to offer patients from rural areas who were undergoing breast cancer surgery and their families 1 night of free accommodations and a postoperative consultation with an extramural nurse. We sought to investigate patient experiences with this program. Methods: This mixed-method retrospective study took place from 2020 to 2022 and compared the preoperative anxiety and quality of recovery of program participants and control patients who were discharged home over 100 km from hospital. We conducted 2x2 analysis of variance to evaluate the effects of intervention group and surgery type. We conducted semistructured interviews with intervention participants, which we then thematically analyzed. Two patient partners were engaged during data synthesis to support the interpretation of results. Results: We included 34 patients who participated in the program and 18 control patients. No statistically significant differences were found between treatment groups in preoperative anxiety and quality of recovery, regardless of surgery type. Thematic analysis of interviews with 17 intervention participants revealed that they were highly satisfied with the program and that the experience helped reduce stress and discomfort related to their surgery. Interpretation: The Delta Oasis program is a cost-effective alternative to inpatient care after breast cancer surgery and is highly regarded by rural patients; expansion to other regions with the inclusion of additional low-risk surgeries could help address hospital capacity issues. This study contributes to our understanding of the patient experience with the Delta Oasis program and informs the development of similar programs elsewhere. Contexte : Le programme Delta Oasis a t lanc au Nouveau-Brunswick en 2006 pour offrir aux personnes des r gions rurales devant subir une intervention chirurgicale pour un cancer du sein et leur famille 1 nuit d'h bergement gratuite et une consultation postop ratoire avec une infirmi re ou un infirmier hors murs. Nous avons voulu interroger la patient le sur son exp rience du programme. M thodes : Il s'agit d'une tude r trospective m thodes mixtes men e de 2020 2022 pour comparer l'anxi t pr op ratoire et la qualit du r tablissement de personnes participant au programme avec celles des membres d'un groupe t moin retourn s leur domicile, plus de 100 km de l'h pital. Nous avons men une analyse de la variance 2 facteurs pour valuer les effets selon le groupe et le type de chirurgie. Nous avons r alis aupr s des membres du groupe sous intervention des entrevues semi-structur es que nous avons ensuite analys es th matiquement. Deux patients partenaires ont t consult s pendant la synth se des donn es pour confirmer l'interpr tation des r sultats. R sultats : Nous avons interrog 34 personnes ayant particip au programme et 18 du groupe t moin. Aucune diff rence statistiquement significative n'a t constat e entre les groupes quant l'anxi t pr op ratoire et la qualit du r tablissement, quel que soit le type de chirurgie. L'analyse th matique des entrevues men es aupr s de 17 membres du groupe sous intervention a r v l qu'ils taient extr mement satisfaits du programme et que l'exp rience avait att nu le stress et l'inconfort li s l'intervention chirurgicale. Conclusion : Le programme Delta Oasis est une fa on rentable de remplacer les soins hospitaliers apr s une chirurgie pour un cancer du sein; il est tr s appr ci des personnes qui vivent en r gion rurale. En l' tendant d'autres r gions et d'autres interventions chirurgicales faible risque, on pourrait contribuer r soudre les probl mes de capacit hospitali re. Cette tude nous aide comprendre l'exp rience de la patient le dans le programme Delta Oasis et claire l'instauration de programmes semblables ailleurs., In recent decades, developed countries have seen a major increase in outpatient surgeries, which allow stable patients to be discharged home on the same day of surgery after a period [...]

Abstract Background Identification of rare variants involved in complex, polygenic diseases like Crohn’s disease (CD) has accelerated with the introduction of whole exome/genome sequencing association studies. Rare variants can be used in both diagnostic and therapeutic assessments; however, since they are likely to be restricted to specific ancestry groups, their contributions to risk assessment need to be evaluated outside the discovery population. Prior studies implied that the three known rare variants in NOD2 are absent in West African and Asian populations and only contribute in African Americans via admixture. Methods Whole genome sequencing (WGS) data from 3418 African American individuals, 1774 inflammatory bowel disease (IBD) cases, and 1644 controls were used to assess odds ratios and allele frequencies (AF), as well as haplotype-specific ancestral origins of European-derived CD variants discovered in a large exome-wide association study. Local and global ancestry was performed to assess the contribution of admixture to IBD contrasting European and African American cohorts. Results Twenty-five rare variants associated with CD in European discovery cohorts are typically five-fold lower frequency in African Americans. Correspondingly, where comparisons could be made, the rare variants were found to have a predicted four-fold reduced burden for IBD in African Americans, when compared to European individuals. Almost all of the rare CD European variants were found on European haplotypes in the African American cohort, implying that they contribute to disease risk in African Americans primarily due to recent admixture. In addition, proportion of European ancestry correlates the number of rare CD European variants each African American individual carry, as well as their polygenic risk of disease. Similar findings were observed for 23 mutations affecting 10 other common complex diseases for which the rare variants were discovered in European cohorts. Conclusions European-derived Crohn’s disease rare variants are even more rare in African Americans and contribute to disease risk mainly due to admixture, which needs to be accounted for when performing cross-ancestry genetic assessments.

Autosomal recessive conditions are often associated with homozygous mutations showing common ancestral origins and are frequently linked to consanguinity. However, an increasing number of compound heterozygotes are found in diverse, admixed populations. Oculocutaneous albinism (OCA) is a recessive condition caused mainly by mutations in the TYR and OCA2 genes involved in skin pigmentation. We previously screened the TYR and OCA2 genes in Colombian OCA families, identifying both known and novel mutations. Affected family members were found to be either homozygous or compound heterozygous for these gene mutations. Compound heterozygosity, where two different recessive alleles inherited from each parent lead to the expression of an autosomal recessive trait, poses a challenge in genetic diagnosis. Estimating the ancestry of these disease-associated variants, in conjunction with understanding the colonization history of admixed populations, can enhance the precision of association mapping in genetic studies. The aim of this study was to determine the ancestral origins of TYR and OCA2 mutations for OCA patients from two populations located in the Andes region of Colombia-Altiplano Cundiboyacense and Marinilla-Santuario. Comparison of OCA patients, and their unaffected relatives, with global reference populations showed a pattern of European and Native American admixture, with little African ancestry, for these two populations. Mutation-bearing TYR and OCA2 haplotypes from Colombian OCA patients were compared against haplotypes from Spanish, Native American, and Sephardic Jewish reference populations to infer their ancestral origins. For 12 OCA1 patients from the Altiplano Cundiboyacense region, 21 out of 24 mutated TYR haplotypes show Spanish origins, two show Native American origins, and one shows a Sephardic Jewish origin. The two Native American TYR haplotypes, and the single Sephardic Jewish haplotype, are all found in compound heterozygote patients, paired with the predominant Spanish TYR haplotype G47D. OCA in these three patients is a result of genetic admixture that brought together disease-causing mutations with distinct ancestral origins. Both OCA2 patients from the Marinilla-Santuario region show homozygous OCA2 mutations with a Spanish origin. These findings underscore the complexity of the genetic architecture of Mendelian disease in admixed American populations, with both consanguinity and admixture contributing to the risk of autosomal recessive OCA in Colombia.

Prostate cancer (PCa) is the second most common cause of cancer death in American men. Metastatic castration-resistant prostate cancer (mCRPC) is the most lethal form of PCa and preferentially metastasizes to the bones through incompletely understood molecular mechanisms. Herein, we processed RNA sequencing data from patients with mCRPC (n = 60) and identified 14 gene clusters (modules) highly correlated with mCRPC bone metastasis. We used a novel combination of weighted gene co-expression network analysis (WGCNA) and upstream regulator and gene ontology analyses of clinically annotated transcriptomes to identify the genes. The cyan module (M14) had the strongest positive correlation (0.81, p = 4 × 10−15) with mCRPC bone metastasis. It was associated with two significant biological pathways through KEGG enrichment analysis (parathyroid hormone synthesis, secretion, and action and protein digestion and absorption). In particular, we identified 10 hub genes (ALPL, PHEX, RUNX2, ENPP1, PHOSPHO1, PTH1R, COL11A1, COL24A1, COL22A1, and COL13A1) using cytoHubba of Cytoscape. We also found high gene expression for collagen formation, degradation, absorption, cell-signaling peptides, and bone regulation processes through Gene Ontology (GO) enrichment analysis.

Teacher Education for Sustainable Development (TESD) is a niche innovation in teacher education that empowers teachers to prepare learners to address global socio-environmental challenges. To advance the diffusion of this niche innovation into general teacher education, this article offers a systematic literature review based on a qualitative analysis of 158 peer-reviewed publications on TESD research. Our results show that TESD research is a growing field characterized by five types of inquiry: designing learning environments, understanding learner attributes, measuring learning outcomes, promoting systems change, and advancing visions for the field. Major innovation potentials of TESD for more general teacher education are its emphasis on the grand socio-environmental challenges of our times, methodologies to engage with knowledge diversity (e.g., inter/transdisciplinarity), and sustainability science learning approaches (e.g., backcasting). We suggest that future work builds from this review to strengthen links between teacher education and TESD in enhancing quality education.

Introduction The Rose hypothesis predicts that since genetic variation is greater within than between populations, genetic risk factors will be associated with individuals’ risk of disease but not population disparities, and since socioenvironmental variation is greater between than within populations, socioenvironmental risk factors will be associated with population disparities but not individuals’ disease risk.Methods We used the UK Biobank to test the Rose hypothesis for type 2 diabetes (T2D) ethnic disparities in the UK. Our cohort consists of 26 912 participants from Asian, black and white ethnic groups. Participants were characterised as T2D cases or controls based on the presence or absence of T2D diagnosis codes in electronic health records. T2D genetic risk was measured using a polygenic risk score (PRS), and socioeconomic deprivation was measured with the Townsend Index (TI). The variation of genetic (PRS) and socioeconomic (TI) risk factors within and between ethnic groups was calculated using analysis of variance. Multivariable logistic regression was used to associate PRS and TI with T2D cases, and mediation analysis was used to analyse the effect of PRS and TI on T2D ethnic group disparities.Results T2D prevalence differs for Asian 23.34% (OR=5.14, CI=4.68 to 5.65), black 16.64% (OR=3.81, CI=3.44 to 4.22) and white 7.35% (reference) ethnic groups in the UK. Both genetic and socioenvironmental T2D risk factors show greater within (w) than between (b) ethnic group variation: PRS w=64.60%, b=35.40%; TI w=71.18%, b=28.19%. Nevertheless, both genetic risk (PRS OR=1.96, CI=1.87 to 2.07) and socioeconomic deprivation (TI OR=1.09, CI=1.08 to 1.10) are associated with T2D individual risk and mediate T2D ethnic disparities (Asian PRS=22.5%, TI=9.8%; black PRS=32.0%, TI=25.3%).Conclusion A relative excess of within-group versus between-group variation does not preclude T2D risk factors from contributing to T2D ethnic disparities. Our results support an integrative approach to health disparities research that includes both genetic and socioenvironmental risk factors.

Abstract The World Health Organization recently defined hypertension and type 2 diabetes (T2D) as modifiable comorbidities leading to dementia and Alzheimer’s disease. In the United States (US), hypertension and T2D are health disparities, with higher prevalence seen for Black and Hispanic minority groups compared to the majority White population. We hypothesized that elevated prevalence of hypertension and T2D risk factors in Black and Hispanic groups may be associated with dementia disparities. We interrogated this hypothesis using a cross-sectional analysis of participant data from the All of Us (AoU) Research Program, a large observational cohort study of US residents. The specific objectives of our study were: (1) to compare the prevalence of dementia, hypertension, and T2D in the AoU cohort to previously reported prevalence values for the US population, (2) to investigate the association of hypertension, T2D, and race/ethnicity with dementia, and (3) to investigate whether race/ethnicity modify the association of hypertension and T2D with dementia. AoU participants were recruited from 2018 to 2019 as part of the initial project cohort (R2019Q4R3). Participants aged 40–80 with electronic health records and demographic data (age, sex, race, and ethnicity) were included for analysis, yielding a final cohort of 125,637 individuals. AoU participants show similar prevalence of hypertension (32.1%) and T2D (13.9%) compared to the US population (32.0% and 10.5%, respectively); however, the prevalence of dementia for AoU participants (0.44%) is an order of magnitude lower than seen for the US population (5%). AoU participants with dementia show a higher prevalence of hypertension (81.6% vs. 31.9%) and T2D (45.9% vs. 11.4%) compared to non-dementia participants. Dominance analysis of a multivariable logistic regression model with dementia as the outcome shows that hypertension, age, and T2D have the strongest associations with dementia. Hispanic was the only race/ethnicity group that showed a significant association with dementia, and the association of sex with dementia was non-significant. The association of T2D with dementia is likely explained by concurrent hypertension, since > 90% of participants with T2D also had hypertension. Black race and Hispanic ethnicity interact with hypertension, but not T2D, to increase the odds of dementia. This study underscores the utility of the AoU participant cohort to study disease prevalence and risk factors. We do notice a lower participation of aged minorities and participants with dementia, revealing an opportunity for targeted engagement. Our results indicate that targeting hypertension should be a priority for risk factor modifications to reduce dementia incidence.

Despite a substantial overall decrease in mortality, disparities among ethnic minorities in developed countries persist. This study investigated mortality disparities and their associated risk factors for the three largest ethnic groups in the United Kingdom: Asian, Black, and White. Study participants were sampled from the UK Biobank (UKB), a prospective cohort enrolled between 2006 and 2010. Genetics, biological samples, and health information and outcomes data of UKB participants were downloaded and data-fields were prioritized based on participants with death registry records. Kaplan-Meier method was used to evaluate survival differences among ethnic groups; survival random forest feature selection followed by Cox proportional-hazard modeling was used to identify and estimate the effects of shared and ethnic group-specific mortality risk factors. The White ethnic group showed significantly worse survival probability than the Asian and Black groups. In all three ethnic groups, endoscopy and colonoscopy procedures showed significant protective effects on overall mortality. Asian and Black women show lower relative risk of mortality than men, whereas no significant effect of sex was seen for the White group. The strongest ethnic group-specific mortality associations were ischemic heart disease for Asians, COVID-19 for Blacks, and cancers of respiratory/intrathoracic organs for Whites. Mental health-related diagnoses, including substance abuse, anxiety, and depression, were a major risk factor for overall mortality in the Asian group. The effect of mental health on Asian mortality, particularly for digestive cancers, was exacerbated by an observed hesitance to answer mental health questions, possibly related to cultural stigma. C-reactive protein (CRP) serum levels were associated with both overall and cause-specific mortality due to COVID-19 and digestive cancers in the Black group, where elevated CRP has previously been linked to psychosocial stress due to discrimination. Our results point to mortality risk factors that are group-specific and modifiable, supporting targeted interventions towards greater health equity.

The relevance of race and ethnicity to genetics and medicine has long been a matter of debate. An emerging consensus holds that race and ethnicity are social constructs and thus poor proxies for genetic diversity. The goal of this study was to evaluate the relationship between race, ethnicity, and clinically relevant pharmacogenomic variation in cosmopolitan populations. We studied racially and ethnically diverse cohorts of 65,120 participants from the United States All of Us Research Program (All of Us) and 31,396 participants from the United Kingdom Biobank (UKB). Genome-wide patterns of pharmacogenomic variation—6311 drug response-associated variants for All of Us and 5966 variants for UKB—were analyzed with machine learning classifiers to predict participants’ self-identified race and ethnicity. Pharmacogenomic variation predicts race/ethnicity with averages of 92.1% accuracy for All of Us and 94.3% accuracy for UKB. Group-specific prediction accuracies range from 99.0% for the White group in UKB to 92.9% for the Hispanic group in All of Us. Prediction accuracies are substantially lower for individuals who identified with more than one group in All of Us (16.7%) or as Mixed in UKB (70.7%). There are numerous individual pharmacogenomic variants with large allele frequency differences between race/ethnicity groups in both cohorts. Frequency differences for toxicity-associated variants predict hundreds of adverse drug reactions per 1000 treated participants for minority groups in All of Us. Our results indicate that race and ethnicity can be used to stratify pharmacogenomic risk in the US and UK populations and should not be discounted when making treatment decisions. We resolve the contradiction between the results reported here and the orthodoxy of race and ethnicity as non-genetic, social constructs by emphasizing the distinction between global and local patterns of human genetic diversity, and we stress the current and future limitations of race and ethnicity as proxies for pharmacogenomic variation.

Explaining how and why housing policies change is an ongoing theoretical challenge for housing scholars. A key approach is the 'housing regimes' framework (Kemeny 2006), drawing from Esping-Andersen's work on the role of labour/capital struggles in shaping welfare states. However, this framework has been criticised (Stephens 2020; Clapham 2020) for inadequately explaining housing system changes, including neoliberal shifts and financialization. In response, scholars have turned to political science and sociology theories on policy change, such as historical institutionalism (Ruonavaara 2020) and discursive theories focusing on interactions between policy actors (Clapham 2018). This article builds on Clapham's discursive turn in housing studies by incorporating concepts from 'discursive institutionalism' (DI) (Schmidt 2008). DI explains policy change by examining the interplay of ideas, interactions, and power dynamics in a given policy field. DI provides a methodological framework for understanding how policy actors develop and use ideas to shape policies, while considering the influence of the institutional context and power relations. The aim of the article is to highlight the utility of DI as a framework for examining housing policy change. As a vehicle for doing so, an analysis of social housing policy change in New Zealand employing DI is provided for empirical reference. The article builds on Clapham's (2018) focus on discourse in housing studies, adding DI to the repertoire of conceptual frameworks available to researchers interested in the causal role of ideas and discourse in policy change processes. [ABSTRACT FROM AUTHOR]

Evolving conceptions of the purposes of higher education suggest the need for assessment practices that contribute to preparing students to navigate complex social-ecological challenges. Though shifts in assessment discourse have begun to respond to this need, further examination of the role of students in assessment processes is required. One strategy that has been highlighted is rubric co-design, in which students and instructors interactively deliberate assessment criteria. However, the literature shows that student voices are typically limited in these processes. To address this gap, this study advances a student-led rubric co-design process to promote student agency and learning. Principles from sustainability are applied to orient the activities of students in this approach by emphasizing the participative, normative and integrative features of the process. A formative intervention was conducted in an undergraduate course focused on professional skill development. Data were collected through individual and group reflections, with reflexive thematic analysis applied to develop themes that represented the ways that students navigated their experiences in the assessment process. Findings demonstrate the promise of the approach in enhancing student agency and promoting self-formation as emerging professionals, while articulating the phases and strategies that shape students' leading role in rubric co-design processes. [ABSTRACT FROM AUTHOR]

Alzheimer's disease (AD) is the most common cause of dementia in the elderly, affecting over 50 million people worldwide in 2020 and this number will triple to 152 million by 2050. Much of the increase will be in developing countries like Colombia. In familial forms, highly penetrant mutations have been identified in three genes, APP, PSEN1, and PSEN2, supporting a role for amyloid-β peptide. In sporadic forms, more than 30 risk genes involved in the lipid metabolism, the immune system, and synaptic functioning mechanisms. We used whole-exome sequencing (WES) to evaluate a family of 97 members, spanning three generations, with a familiar AD, and without mutations in APP, PSEN1, or PSEN2. We sequenced two affected and one unaffected member with the aim of identifying genetic variants that could explain the presence of the disease in the family and the candidate variants were validated in eleven members. We also built a structural model to try to determine the effect on protein function. WES analysis identified two rare variants in SORL1 and MTHFD1L genes segregating in the family with other potential risk variants in APOE, ABCA7, and CHAT, suggesting an oligogenic inheritance. Additionally, the structural 3D models of SORL1 and MTHFD1L variants shows that these variants produce polarity changes that favor hydrophobic interactions, resulting in local structural changes that could affect the protein function and may contribute to the development of the disease in this family.

Many scholars have decried the transformation of higher education into a business model which pressures academics to treat students as a consumer group that must be retained. This research explored how these pressures affect social work faculty's perception of their ethical ability to prepare future practitioners academically. The study surveyed social work faculty in higher education social work programs located in the Northeastern states of the United States. Qualitative and quantitative data were collected. Results show that pressures to retain students are felt, but most faculty uphold their values and standards. This exploration of faculty perceptions of education has important ethical implications. Social work engages complex issues and serves vulnerable individuals, making quality education a salient ethical concern. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to determine the effectiveness of UK government COVID-19 safe offices policy to increase stair use in a higher education setting during the COVID-19 pandemic. Methods: Automated counts at 3 ground floor staircases and the elevator entrances were used to estimate stair to elevator use ratio for ascent and descent from/to the ground floor of a university building at baseline (January to March 2020), first and second intervention months (October 2020, November 2020, respectively). Stair promoting signage and a 1-way system was implemented, in line with government policy. Results: At baseline, stair to elevator use ratio for ascent from and descent to the ground floor was 1.36 (0.02) and 1.88 (0.02) people, respectively. The ratio significantly increased in the first intervention month to 2.64 (0.09) and 3.96 (0.22) people for ascent and descent, respectively. However, the ratio decreased between the first and second intervention months to 1.63 (0.06) and 3.05 (0.52) people for ascent and descent, respectively. Conclusion: The UK government COVID-19 policy was effective at increasing stair use in a higher education setting. [ABSTRACT FROM AUTHOR]