Recontact to return new or updated PALB2 genetic results in the clinical laboratory setting.

OBJECTIVE: The purpose of this study was to recontact individuals with clinically actionable test results identified through a retrospective research study and to provide a framework for laboratories to recontact patients. METHODS: Genetic testing was conducted on 2977 individuals originally referred for BRCA1 and BRCA2 hereditary breast and ovarian cancer testing that had a negative genetic test result. A gene panel was used to identify pathogenic variants in known or newly discovered genes that could explain the underlying cause of disease; however, analysis was restricted to PALB2 for the purposes of this study. A patient recontact decision tree was developed to assist in the returning of updated genetic test results to clinics and patients. RESULTS: Novel clinically actionable pathogenic variants were identified in the PALB2 gene in 18 participants (0.6%), the majority of whom were recontacted with their new or updated genetic test results. Eight individuals were unable to be recontacted; five individuals had already learnt about their new or updated findings from genetic testing outside the context of this study; three individuals prompted cascade testing in family members; two individuals were deceased. CONCLUSION: Novel pathogenic variants in PALB2 were identified in 18 individuals through retrospective gene panel testing. Recontacting these individuals regarding these new or updated findings had a range of outcomes. The process of conveying genomic results within this framework can be effectively accomplished while upholding patient autonomy, potentially leading to advantageous outcomes for patients and their families.

Characterizing Risk Factors for Hospitalization and Clinical Characteristics in a Cohort of COVID-19 Patients Enrolled in the GENCOV Study.

The GENCOV study aims to identify patient factors which affect COVID-19 severity and outcomes. Here, we aimed to evaluate patient characteristics, acute symptoms and their persistence, and associations with hospitalization. Participants were recruited at hospital sites across the Greater Toronto Area in Ontario, Canada. Patient-reported demographics, medical history, and COVID-19 symptoms and complications were collected through an intake survey. Regression analyses were performed to identify associations with outcomes including hospitalization and COVID-19 symptoms. In total, 966 responses were obtained from 1106 eligible participants (87% response rate) between November 2020 and May 2022. Increasing continuous age (aOR: 1.05 [95%CI: 1.01-1.08]) and BMI (aOR: 1.17 [95%CI: 1.10-1.24]), non-White/European ethnicity (aOR: 2.72 [95%CI: 1.22-6.05]), hypertension (aOR: 2.78 [95%CI: 1.22-6.34]), and infection by viral variants (aOR: 5.43 [95%CI: 1.45-20.34]) were identified as risk factors for hospitalization. Several symptoms including shortness of breath and fever were found to be more common among inpatients and tended to persist for longer durations following acute illness. Sex, age, ethnicity, BMI, vaccination status, viral strain, and underlying health conditions were associated with developing and having persistent symptoms. By improving our understanding of risk factors for severe COVID-19, our findings may guide COVID-19 patient management strategies by enabling more efficient clinical decision making.

Examining the social networks of older adults receiving informal or formal care: a systematic review.

PURPOSE: To address the care needs of older adults, it is important to identify and understand the forms of care support older adults received. This systematic review aims to examine the social networks of older adults receiving informal or formal care and the factors that influenced their networks. METHODS: A systematic review was conducted by searching six databases from inception to January 31, 2023. The review included primary studies focusing on older adults receiving long-term care, encompassing both informal and formal care. To assess the risk of bias in the included studies, validated appraisal tools specifically designed for different study types were utilized. Network analysis was employed to identify the grouping of study concepts, which subsequently formed the foundation for describing themes through narrative synthesis. RESULTS: We identified 121 studies relating to the formal and informal care of older adults' networks. A variety of social ties were examined by included studies. The most commonly examined sources of care support were family members (such as children and spouses) and friends. Several factors were consistently reported to influence the provision of informal care, including the intensity of networks, reciprocity, and geographical proximity. In terms of formal care utilization, older age and poor health status were found to be associated with increased use of healthcare services. Additionally, physical limitations and cognitive impairment were identified as factors contributing to decreased social engagement. CONCLUSION: This review found that older people were embedded within a diverse network. The findings of this review emphasize the importance of recognizing and incorporating the diversity of social networks in care plans and policies to enhance the effectiveness of interventions and improve the overall well-being of older adults.

Complex interventions for improving independent living and quality of life amongst community-dwelling older adults: a systematic review and meta-analysis.

BACKGROUND: community-based complex interventions for older adults have a variety of names, including Comprehensive Geriatric Assessment, but often share core components such as holistic needs assessment and care planning. OBJECTIVE: to summarise evidence for the components and effectiveness of community-based complex interventions for improving older adults' independent living and quality of life (QoL). METHODS: we searched nine databases and trial registries to February 2022 for randomised controlled trials comparing complex interventions to usual care. Primary outcomes included living at home and QoL. Secondary outcomes included mortality, hospitalisation, institutionalisation, cognitive function and functional status. We pooled data using risk ratios (RRs) or standardised mean differences (SMDs) with 95% confidence intervals (CIs). RESULTS: we included 50 trials of mostly moderate quality. Most reported using holistic assessment (94%) and care planning (90%). Twenty-seven (54%) involved multidisciplinary care, with 29.6% delivered mainly by primary care teams without geriatricians. Nurses were the most frequent care coordinators. Complex interventions increased the likelihood of living at home (RR 1.05; 95% CI 1.00-1.10; moderate-quality evidence) but did not affect QoL. Supported by high-quality evidence, they reduced mortality (RR 0.86; 95% CI 0.77-0.96), enhanced cognitive function (SMD 0.12; 95% CI 0.02-0.22) and improved instrumental activities of daily living (ADLs) (SMD 0.11; 95% CI 0.01-0.21) and combined basic/instrumental ADLs (SMD 0.08; 95% CI 0.03-0.13). CONCLUSIONS: complex interventions involving holistic assessment and care planning increased the chance of living at home, reduced mortality and improved cognitive function and some ADLs.

Implementation of a diabetes prevention programme in a multi-ethnic community in primary care in England: An evaluation using constructs from the RE-AIM Framework.

AIMS: To implement a diabetes prevention programme in primary care METHODS: The programme was implemented for 12 months in two neighbouring towns, served by eight general practices. Practices requested a referral pathway involving an external administrator running electronic searches and sending postal invitations. If interested, people called and booked a place on the programme. Practices were also provided with resources to refer people directly. Six Educators were trained to deliver the programme. The RE-AIM constructs "Adoption", "Reach" and "Uptake" were assessed. RESULTS: All practices engaged in the searches and postal invitations. Overall, 3.9 % of those aged ≥ 25 years had an HbA1c level indicative of non-diabetic hyperglycaemia (NDH) and were invited. Overall uptake (attended as percentage of invited) was 16 % (practice range 10.5-26.6 %) and was highest in two practices where the invitation was followed by a telephone call. Four people were referred directly by their practice. Groups at risk of being excluded were the Bengali population and those unable to attend because of issues such as health, mobility and frailty. CONCLUSIONS: Comprehensive electronic searches meant everyone previously diagnosed with NDH was invited to attend. Follow-up telephone call improved uptake and providing practices with resources to make these calls themselves would likely increase uptake further.

A comparative overview of health and social care policy for older people in England and Scotland, United Kingdom (UK).

BACKGROUND: Responsibility for health and social care was devolved to Scotland in 1999 with evidence of diverging policy and organisation of care compared to England. This paper provides a comparative overview of major health and social care policies in England and Scotland published between 2011 and 2023 relating to the care of older people. METHODS: We searched United Kingdom (UK) and Scotland government websites for macro-level policy documents between 2011 and 2023 relating to the health and social care of older people (aged 65+). Data were extracted and emergent themes were summarised according to Donabedian's structure-process-outcome model. RESULTS: We reviewed 27 policies in England and 28 in Scotland. Four main policy themes emerged that were common to both countries. Two related to the structure of care: integration of care and adult social care reform. Two related to service delivery/processes of care: prevention and supported self-management and improving mental health care. Cross-cutting themes included person-centred care, addressing health inequalities, promoting use of technology, and improving outcomes. CONCLUSION: Despite differences in the structure of care, including more competition, financial incentivization, and consumer-based care in England compared to Scotland, there are similarities in policy vision around delivery/processes of care (e.g. person-centred care) and performance and patient outcomes. Lack of UK-wide health and social care datasets hinders evaluation of policies and comparison of outcomes between both countries.

Genome screening, reporting, and genetic counseling for healthy populations.

Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500). GS was performed. Data were filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. The final report includes results generated from GS data: (1) monogenic disease risks; (2) carrier status; (3) pharmacogenomic variants; (4) polygenic risk scores for common conditions; (5) HLA genotype; (6) genetic ancestry; (7) blood group; and, (8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals.

Factors associated with accessing and utilisation of healthcare and provision of health services for residents of slums in low and middle-income countries: a scoping review of recent literature.

OBJECTIVE: To identify factors associated with accessing and utilisation of healthcare and provision of health services in slums. DESIGN: A scoping review incorporating a conceptual framework for configuring reported factors. DATA SOURCES: MEDLINE, Embase, CINAHL, Web of Science and the Cochrane Library were searched from their inception to December 2021 using slum-related terms. ELIGIBILITY CRITERIA: Empirical studies of all designs reporting relevant factors in slums in low and middle-income countries. DATA EXTRACTION AND SYNTHESIS: Studies were categorised and data were charted according to a preliminary conceptual framework refined by emerging findings. Results were tabulated and narratively summarised. RESULTS: Of the 15 469 records retrieved from all years, 4368 records dated between 2016 and 2021 were screened by two independent reviewers and 111 studies were included. The majority (63 studies, 57%) were conducted in Asia, predominantly in India. In total, 104 studies examined healthcare access and utilisation from slum residents' perspective while only 10 studies explored provision of health services from providers/planners' perspective (three studies included both). A multitude of factors are associated with accessing, using and providing healthcare in slums, including recent migration to slums; knowledge, perception and past experience of illness, healthcare needs and health services; financial constraint and competing priorities between health and making a living; lacking social support; unfavourable physical environment and locality; sociocultural expectations and stigma; lack of official recognition; and existing problems in the health system. CONCLUSION: The scoping review identified a significant body of recent literature reporting factors associated with accessing, utilisation and provision of healthcare services in slums. We classified the diverse factors under seven broad categories. The findings can inform a holistic approach to improving health services in slums by tackling barriers at different levels, taking into account local context and geospatial features of individual slums. SYSTEMATIC REVIEW REGISTRATION NUMBER: https://osf.io/694t2.

Development of a video-observation method for examining doctors' clinical and interpersonal skills in a hospital outpatient clinic in Ibadan, Oyo State, Nigeria.

BACKGROUND: Improving the quality of primary healthcare provision is a key goal in low-and middle-income countries (LMICs). However, to develop effective quality improvement interventions, we first need to be able to accurately measure the quality of care. The methods most commonly used to measure the technical quality of care all have some key limitations in LMICs settings. Video-observation is appealing but has not yet been used in this context. We examine preliminary feasibility and acceptability of video-observation for assessing physician quality in a hospital outpatients' department in Nigeria. We also develop measurement procedures and examine measurement characteristics. METHODS: Cross-sectional study at a large tertiary care hospital in Ibadan, Nigeria. Consecutive physician-patient consultations with adults and children under five seeking outpatient care were video-recorded. We also conducted brief interviews with participating physicians to gain feedback on our approach. Video-recordings were double-coded by two medically trained researchers, independent of the study team and each other, using an explicit checklist of key processes of care that we developed, from which we derived a process quality score. We also elicited a global quality rating from reviewers. RESULTS: We analysed 142 physician-patient consultations. The median process score given by both coders was 100 %. The modal overall rating category was 'above standard' (or 4 on a scale of 1-5). Coders agreed on which rating to assign only 44 % of the time (weighted Cohen's kappa = 0.26). We found in three-level hierarchical modelling that the majority of variance in process scores was explained by coder disagreement. A very high correlation of 0.90 was found between the global quality rating and process quality score across all encounters. Participating physicians liked our approach, despite initial reservations about being observed. CONCLUSIONS: Video-observation is feasible and acceptable in this setting, and the quality of consultations was high. However, we found that rater agreement is low but comparable to other modalities that involve expert clinician judgements about quality of care including in-person direct observation and case note review. We suggest ways to improve scoring consistency including careful rater selection and improved design of the measurement procedure for the process score.

A Crossover Randomized Controlled Trial of Priming Interventions to Increase Hand Hygiene at Ward Entrances.

BACKGROUND: Research conducted in the United States suggests that two primes (citrus smells and pictures of a person's eyes) can increase hand gel dispenser use on the day they are introduced in hospital. The current study, conducted at a hospital in the United Kingdom, evaluated the effectiveness of these primes, both in isolation and in combination, at the entry way to four separate wards, over a longer duration than the previous work. METHODS: A crossover randomized controlled trial was conducted. Four wards were allocated for 6 weeks of observation to each of four conditions, including "control," "olfactory," "visual," or "both" (i.e., "olfactory" and "visual" combined). It was hypothesized that hand hygiene compliance would be greater in all priming conditions relative to the control condition. The primary outcome was whether people used the gel dispenser when they entered the wards. After the trial, a follow up survey of staff at the same hospital assessed the barriers to, and facilitators of, hand hygiene compliance. The trial data were analyzed using regression techniques and the survey data were analyzed using descriptive statistics. RESULTS: The total number of individuals observed in the trial was 9,811 (female = 61%), with similar numbers across conditions, including "control" N = 2,582, "olfactory" N = 2,700, "visual" N = 2,488, and "both" N = 2,141. None of the priming conditions consistently increased hand hygiene. The lowest percentage compliance was observed in the "both" condition (7.8%), and the highest was observed in the "visual" condition (12.7%). The survey was completed by 97 staff (female = 81%). "Environmental resources" and "social influences" were the greatest barriers to staff cleaning their hands. CONCLUSIONS: Taken together, the current findings suggest that the olfactory and visual priming interventions investigated do not influence hand hygiene consistently. To increase the likelihood of such interventions succeeding, future research should focus on prospectively determined mechanisms of action.

Comparing the use of direct observation, standardized patients and exit interviews in low- and middle-income countries: a systematic review of methods of assessing quality of primary care.

Clinical records in primary healthcare settings in low- and middle-income countries (LMIC) are often lacking or of too poor quality to accurately assess what happens during the patient consultation. We examined the most common methods for assessing healthcare workers' clinical behaviour: direct observation, standardized patients and patient/healthcare worker exit interview. The comparative feasibility, acceptability, reliability, validity and practicalities of using these methods in this setting are unclear. We systematically review and synthesize the evidence to compare and contrast the advantages and disadvantages of each method. We include studies in LMICs where methods have been directly compared and systematic and narrative reviews of each method. We searched several electronic databases and focused on real-life (not educational) primary healthcare encounters. The most recent update to the search for direct comparison studies was November 2019. We updated the search for systematic and narrative reviews on the standardized patient method in March 2020 and expanded it to all methods. Search strategies combined indexed terms and keywords. We searched reference lists of eligible articles and sourced additional references from relevant review articles. Titles and abstracts were independently screened by two reviewers and discrepancies resolved through discussion. Data were iteratively coded according to pre-defined categories and synthesized. We included 12 direct comparison studies and eight systematic and narrative reviews. We found that no method was clearly superior to the others-each has pros and cons and may assess different aspects of quality of care provision by healthcare workers. All methods require careful preparation, though the exact domain of quality assessed and ethics and selection and training of personnel are nuanced and the methods were subject to different biases. The differential strengths suggest that individual methods should be used strategically based on the research question or in combination for comprehensive global assessments of quality.

Impact of the societal response to COVID-19 on access to healthcare for non-COVID-19 health issues in slum communities of Bangladesh, Kenya, Nigeria and Pakistan: results of pre-COVID and COVID-19 lockdown stakeholder engagements.

INTRODUCTION: With COVID-19, there is urgency for policymakers to understand and respond to the health needs of slum communities. Lockdowns for pandemic control have health, social and economic consequences. We consider access to healthcare before and during COVID-19 with those working and living in slum communities. METHODS: In seven slums in Bangladesh, Kenya, Nigeria and Pakistan, we explored stakeholder perspectives and experiences of healthcare access for non-COVID-19 conditions in two periods: pre-COVID-19 and during COVID-19 lockdowns. RESULTS: Between March 2018 and May 2020, we engaged with 860 community leaders, residents, health workers and local authority representatives. Perceived common illnesses in all sites included respiratory, gastric, waterborne and mosquitoborne illnesses and hypertension. Pre-COVID, stakeholders described various preventive, diagnostic and treatment services, including well-used antenatal and immunisation programmes and some screening for hypertension, tuberculosis, HIV and vectorborne disease. In all sites, pharmacists and patent medicine vendors were key providers of treatment and advice for minor illnesses. Mental health services and those addressing gender-based violence were perceived to be limited or unavailable. With COVID-19, a reduction in access to healthcare services was reported in all sites, including preventive services. Cost of healthcare increased while household income reduced. Residents had difficulty reaching healthcare facilities. Fear of being diagnosed with COVID-19 discouraged healthcare seeking. Alleviators included provision of healthcare by phone, pharmacists/drug vendors extending credit and residents receiving philanthropic or government support; these were inconsistent and inadequate. CONCLUSION: Slum residents' ability to seek healthcare for non-COVID-19 conditions has been reduced during lockdowns. To encourage healthcare seeking, clear communication is needed about what is available and whether infection control is in place. Policymakers need to ensure that costs do not escalate and unfairly disadvantage slum communities. Remote consulting to reduce face-to-face contact and provision of mental health and gender-based violence services should be considered.

Evaluating a stroke-specific version of the Illness Perception Questionnaire-Revised, using the Think-Aloud method.

The main purpose was to evaluate, using the Think-Aloud method, a version of the Illness Perception Questionnaire-Revised for stroke survivors. Six stroke survivors (mean age = 58.8 years, range = 31-78 years, standard deviation = 18.9 years) took part in Think-Aloud interviews, analysed according to established guidelines. Overall, 179 problems emerged. The most noteworthy was missing or insufficient Think-Aloud data generated, where participants did not think out loud. Others included complex and negative item wording, and items on the treatment control sub-scale. Questionnaire length, simpler wording and verbal probing are important considerations in further development of an Illness Perception Questionnaire-Revised for stroke survivors.

Do individual versus illness belief schema differ in the prediction of post-stroke recovery?

This longitudinal observational study examined how individual versus illness belief schema compare as predictors of post-stroke recovery. A total of 42 stroke survivors (mean age = 66.9 years/range = 29-96 years; 68% male) were involved. The primary outcome, Health-Related Quality of Life was measured using EQ-5D-5L, mood using Patient Health Questionnaire-9 and disability using Nottingham Extended Activities of Daily Living Scale. Stroke Illness Perception Questionnaire-Revised measured illness beliefs. Linear regressions showed that individual illness beliefs significantly explained more of the variance in 3-month post-stroke recovery than schema (7.4%-22.5% versus 1.9%-9.9%). Individual versus illness belief schema predict outcomes differently, but which approach predicts outcomes better remains unclear.

Users' experiences of a pragmatic diabetes prevention intervention implemented in primary care: qualitative study.

OBJECTIVES: To explore service-user and provider experience of the acceptability and value of the Let's Prevent Diabetes programme, a pragmatic 6-hour behavioural intervention using structured group education, introduced into primary care practice. DESIGN: Qualitative interview-based study with thematic analysis. SETTING: Primary care and community. PARTICIPANTS: Purposeful sample of 32 participants, including 22 people at high risk of diabetes who either attended, defaulted from or declined the intervention; and 10 stakeholder professionals involved in implementation. RESULTS: Participants had low prior awareness of their elevated risk and were often surprised to be offered intervention. Attenders were commonly older, white, retired and motivated to promote their health; who found their session helpful, particularly for social interaction, raising dietary awareness, and convenience of community location. However attenders highlighted lack of depth, repetition within and length of session, difficulty meeting culturally diverse needs and no follow-up as negative features. Those who defaulted from, or who declined the intervention were notably apprehensive, uncertain or unconvinced about whether they were at risk of diabetes; sought more specific information about the intervention, and were deterred by its group nature and day-long duration, with competing work or family commitments. Local providers recognised inadequate communication of diabetes risk to patients. They highlighted significant challenges for implementation, including resource constraints, and facilitation at individual general practice or locality level. CONCLUSIONS: This pragmatic diabetes prevention intervention was acceptable in practice, particularly for older, white, retired and health-motivated people. However, pre-intervention information and communication of diabetes risk should be improved to increase engagement and reduce potential fear or uncertainty, with closer integration of services, and more appropriate care pathways, to facilitate uptake and follow-up. Further development of this, or other interventions, is needed to enable wider, and more socially diverse, engagement of people at risk. Balancing a locality and individual practice approach, and how this is resourced are considerations for long-term sustainability.

Using environmental engineering to increase hand hygiene compliance: a cross-over study protocol.

INTRODUCTION: Compliance with hand hygiene recommendations in hospital is typically less than 50%. Such low compliance inevitably contributes to hospital-acquired infections that negatively affect patients' well-being and hospitals' finances. The design of the present study is predicated on the assumption that most people who fail to clean their hands are not doing so intentionally, they just forget. The present study will test whether psychological priming can be used to increase the number of people who clean their hands on entering a ward. Here, we present the protocol for this study. METHODS AND ANALYSIS: The study will use a randomised cross-over design. During the study, each of four wards will be observed during four conditions: olfactory prime, visual prime, both primes and neither prime. Each condition will be experienced for 42 days followed by a 7-day washout period (total duration of trial=189 days). We will record the number of people who enter each ward and whether they clean their hands during observation sessions, the amount of cleaning material used from the dispensers each week and the number of hospital-acquired infections that occur in each period. The outcomes will be compared using a regression analysis. Following the initial trail, the most effective priming condition will be rolled out for 3 months in all the wards. ETHICS AND DISSEMINATION: Research ethics approval was obtained from the South Central-Oxford C Research Ethics Committee (16/SC/0554), the Health Regulatory Authority and the sponsor. TRIAL REGISTRATION NUMBER: ISRCTN (15397624); Edge ID 86357.

A Closed Lateral Subtalar Dislocation With Checkrein Deformity of Great Toe due to Entrapment of Flexor Hallucis Longus: A Case Report.

UNLABELLED: Closed lateral subtalar dislocation is a very rare injury. We report a case of closed lateral subtalar dislocation with entrapment of flexor hallucis longus tendon producing a checkrein deformity. The patient was managed immediately with closed reduction under regional anesthesia and fixated with percutaneous Kirschner wires. Early mobilization and weightbearing was started and there were no complications till the last follow-up visit. LEVELS OF EVIDENCE: Therapeutic, Level IV: Case study.

The association of physiological cortisol and IVF treatment outcomes: a systematic review.

PURPOSE: A systematic review was conducted to (1) collate and synthesise the available evidence for the role of cortisol in relation to IVF treatment outcomes; (2) to establish the strength of an association between cortisol and IVF; and (3) to assess the overall quality of the studies and guide future research in this area. METHODS: Seven electronic databases, including the reference lists of published papers, were searched. Inclusion criteria qualified any prospective/observational cohort study that reported original data. Quality assessment of eligible studies was conducted using the STROBE statement, which was used to assess the risk of bias and the quality of observational studies included in this review. RESULTS: A total of eight studies reported a significant association between cortisol and IVF outcomes. Three studies found that higher cortisol may be associated with more favourable IVF outcomes, whereas five studies found that lower cortisol levels may be conducive to IVF success. Eleven of all studies included in this review were regarded as low quality publications. CONCLUSIONS: Study findings were that the evidence for the role of cortisol in relation to IVF outcomes is currently mixed. Future researchers are encouraged to consider the methodological limitations highlighted in this review and to utilise more robust assessment methods when examining the influence that chronic, rather than acute, stress may have on IVF outcomes.