A case study of a strategic initiative in pediatric rehabilitation transition services: An insiders' perspective on team principles and practices

AimsThe aim was to describe an innovative initiative that took place in a pediatric rehabilitation hospital. The goal of this organization-wide strategic initiative, called the Transition Strategy, was to improve service delivery to children/youth with disabilities and their families at times of life transition. The research question was: What are the key elements that have contributed to the success of the Strategy, from the perspective of team members? The objectives were to describe: (a) the guiding principles underlying team functioning and team practices, (b) key enablers of positive team functioning, (c) the nature of effective team practices, and (d) lessons learned.MethodsA holistic descriptive case study was conducted, utilizing historical documents, tracked outcome data, and the experiences and insights of multidisciplinary team members (the authors). Reflecting an insiders' perspective, the impressions of team members were key sources of data. The perspectives of team members were used to generate key teamwork principles, enablers of team functioning, team practices, and key learnings.Findings and DiscussionTeam members identified four guiding humanistic principles (respect, support, partnership, and open communication). These principles underpinned three novel practices that contributed to team effectiveness in the eyes of team members: supportive relational practices, human-centered co-design, and solution-focused communication. Key enablers were the relational style of leadership, and a team climate of innovation, autonomy, and trust, supported by the organizational vision. This team climate fostered a sense of psychological safety, thereby encouraging both experimentation and learning from failure.ConclusionsThis article provides information for other healthcare organizations interested in understanding the Strategy's value and its implementation. It provides a practical example of how to adopt a humanistic approach to health care, leading to both innovative service development and thriving among team members

Screening for breast cancer : medicalization, visualization and the embodied experience

Women’s perspectives on breast screening (mammography and breast awareness) were explored in interviews with midlife women sampled for diversity of background and health experience. Attending mammography screening was considered a social obligation despite women’s fears and experiences of discomfort. Women gave considerable legitimacy to mammography visualizations of the breast, and the expert interpretation of these. In comparison, women lacked confidence in breast awareness practices, directly comparing their sensory capabilities with those of the mammogram, although mammography screening did not substitute breast awareness in a straightforward way. The authors argue that reliance on visualizing technology may create a fragmented sense of the body, separating the at risk breast from embodied experience

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to men seeking PCa screening

Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Genome-wide association studies (GWAS) have identified numerous common prostate cancer (PrCa) susceptibility loci. We have fine-mapped 64 GWAS regions known at the conclusion of the iCOGS study using large-scale genotyping and imputation in 25 723 PrCa cases and 26 274 controls of European ancestry. We detected evidence for multiple independent signals at 16 regions, 12 of which contained additional newly identified significant associations. A single signal comprising a spectrum of correlated variation was observed at 39 regions; 35 of which are now described by a novel more significantly associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated and narrowed down the list of the most likely candidate causal variants for each region. Functional annotation using data from ENCODE filtered for PrCa cell lines and eQTL analysis demonstrated significant enrichment for overlap with bio-features within this set. By incorporating the novel risk variants identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have been hidden during the discovery phase of GWAS, in particular due to the presence of multiple independent signals within the same regio

Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission

AbstractUnderstanding SARS-CoV-2 transmission in higher education settings is important to limit spread between students, and into at-risk populations. In this study, we sequenced 482 SARS-CoV-2 isolates from the University of Cambridge from 5 October to 6 December 2020. We perform a detailed phylogenetic comparison with 972 isolates from the surrounding community, complemented with epidemiological and contact tracing data, to determine transmission dynamics. We observe limited viral introductions into the university; the majority of student cases were linked to a single genetic cluster, likely following social gatherings at a venue outside the university. We identify considerable onward transmission associated with student accommodation and courses; this was effectively contained using local infection control measures and following a national lockdown. Transmission clusters were largely segregated within the university or the community. Our study highlights key determinants of SARS-CoV-2 transmission and effective interventions in a higher education setting that will inform public health policy during pandemics.</jats:p

Haplotype Structure, LD Blocks, and Uneven Recombination Within the LRP5 Gene

Patterns of linkage disequilibrium (LD) in the human genome are beginning to be characterized, with a paucity of haplotype diversity in “LD blocks,” interspersed by apparent “hot spots” of recombination. Previously, we cloned and physically characterized the low-density lipoprotein-receptor-related protein 5 (LRP5) gene. Here, we have extensively analysed both LRP5 and its flanking three genes, spanning 269 kb, for single nucleotide polymorphisms (SNPs), and we present a comprehensive SNP map comprising 95 polymorphisms. Analysis revealed high levels of recombination across LRP5, including a hot-spot region from intron 1 to intron 7 of LRP5, where there are 109 recombinants/Mb (4882 meioses), in contrast to flanking regions of 14.6 recombinants/Mb. This region of high recombination could be delineated into three to four hot spots, one within a 601-bp interval. For LRP5, three haplotype blocks were identified, flanked by the hot spots. Each LD block comprised over 80% common haplotypes, concurring with a previous study of 14 genes that showed that common haplotypes account for at least 80% of all haplotypes. The identification of hot spots in between these LD blocks provides additional evidence that LD blocks are separated by areas of higher recombination. [Supplementary material: primers are available from our Web site: http://www-gene.cimr.cam.ac.uk/todd/human_data.shtml.

Distribution of a subclinical marker of cardiovascular risk, the ankle brachial index, in a rural African population: SASPI study

Background: In sub-Saharan Africa, hypertension and stroke are emerging as an important cause of death and disability, whereas coronary heart disease appears still to be uncommon. The aim of our study was to measure for the first time in an African population the ankle brachial index (ABI), which is known to be a good marker of subclinical atheroma and of the risk of future cardiovascular events. Methods: The study was part of the Southern African Stroke Prevention Initiative (SASPI). It comprised a cross-sectional survey conducted in rural north-east South Africa in the sub-district of Agincourt, in which the demography of the population has been closely monitored. A stratified sample of 10 villages were selected and within these a random sample was chosen of 526 men and women aged 35 years and older. Subjects were visited on up to three occasions to be interviewed and have a clinical examination by specially trained nurses. This included an assessment of cardiovascular risk factors and measurement of the ABI (ratio of ankle: brachial systolic pressure) using a Doppler ultrasound machine. Results: The sample comprised 322 subjects in whom the mean ABI (lower of either leg) was 1.05 in both men and women. The distribution of ABI was negatively skewed and a low ABI of 0.9 or less, indicative of significant atheroma and higher cardiovascular risk, increased with age from 3.9% in 40-49 year olds to 39.7% in those aged 70 years and older. Lower ABI was related to current cigarette smoking (P = 0.02) and higher systolic and diastolic blood pressure (P < 0.01, P = 0.02, respectively) but not total cholesterol levels, which were relatively low in this population (mean 4.47 mmol/l). Conclusion: The distribution of the ABI in this rural African population was very similar to that reported in western populations, and suggests that this population has subclinical peripheral atheroma and is at an increased risk of future cardiovascular events, thus providing further evidence of an epidemiological transition towards cardiovascular disease