Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

A qualitative study exploring the ritual-like activity and therapeutic relationship between Pilates teachers and clients with persistent low back pain.

BACKGROUND AND PURPOSE: Pilates is a commonly recommended exercise modality for the management of persistent low back pain. Whilst guidelines recommend the use of exercise for low back pain, research suggests that no one exercise is superior, creating a question over the mechanism of effect. The patient-practitioner relationship may be important in managing low back pain; however, the relationship between Pilates teachers and clients is not well understood. The purpose of this study was to identify the components of the relationship between Pilates teachers and clients with persistent low back pain, explore key influences on the relationship, and ascertain the nature of the relationship. METHOD: We conducted a qualitative, ethnographically-informed study at eight sites in the South of England, observing 24 Pilates sessions and interviewing 9 Pilates teachers and 10 clients with persistent low back pain. Fieldnotes and interview transcripts were analysed thematically. RESULTS: The findings demonstrate a complex, multi-faceted interaction that occurs during Pilates sessions, grounded within certain health perceptions, and predicated on expectations of individuality, choice and expertise. A key finding reveals the perceived importance of mastery of prescribed movements with control and precision, in which clients particularly value the authority of the teacher in a directive learning environment. CONCLUSION: We contend that the role of the Pilates teacher in this study facilitated the alleviation of clients' distress through the application of ritual-like Pilates activity. We conclude that the relationship between Pilates teachers and clients with persistent low back pain may be considered a therapeutic relationship.

Meaningful Clinical Outcomes for Young People and Parents When Treated for Chronic Musculoskeletal Pain in the UK: Q Set Development.

Previous studies have established a core outcome set for pediatric chronic pain clinical trials. The aim of this research was to establish which outcomes young people and parents considered important to measure during treatment for chronic musculoskeletal pain. To the best of our knowledge, this is the first study to explore which outcomes could be used to tailor interventions within a clinical setting. Twenty-one young people (aged 11-18 years) and 21 parents were recruited from 2 UK hospital sites and took part in semi-structured interviews that incorporated drawing a timeline of their treatment. They identified positive and negative outcomes showing the perceived effectiveness of treatment. Informed by Q methodology, the words and phases of young people and parents were developed into 101 statements that were mapped onto the core outcome set and represented wide-ranging opinions regarding the outcomes they considered important (Q set). This approach helped identify additional statements related to "parent and family functioning" not routinely considered. Outcomes related to the treatment experience and adverse effects were highlighted as important, yet are not routinely prioritized in clinical research. Parents prioritized outcomes related to the treatment experience, whereas young people prioritized their overall well-being. Over the course of treatment, outcome focus changed, with some outcomes only deemed relevant at a specific time point. Overall, the research highlighted the need for clinical guidance on which outcome domains to measure during the treatment course to gauge treatment effectiveness and optimally tailor interventions. PERSPECTIVE: This study established the range of outcomes that were important to young people and their parents during treatment for chronic musculoskeletal pain. The findings show how young people and parents have different outcome preferences and how their outcome focus changes during the treatment course.

SPINE20 recommendations 2023: One Earth, one family, one future WITHOUT spine DISABILITY.

Introduction: The purpose is to report on the fourth set of recommendations developed by SPINE20 to advocate for evidence-based spine care globally under the theme of "One Earth, One Family, One Future WITHOUT Spine DISABILITY". Research question: Not applicable. Material and methods: Recommendations were developed and refined through two modified Delphi processes with international, multi-professional panels. Results: Seven recommendations were delivered to the G20 countries calling them to:-establish, prioritize and implement accessible National Spine Care Programs to improve spine care and health outcomes.-eliminate structural barriers to accessing timely rehabilitation for spinal disorders to reduce poverty.-implement cost-effective, evidence-based practice for digital transformation in spine care, to deliver self-management and prevention, evaluate practice and measure outcomes.-monitor and reduce safety lapses in primary care including missed diagnoses of serious spine pathologies and risk factors for spinal disability and chronicity.-develop, implement and evaluate standardization processes for spine care delivery systems tailored to individual and population health needs.-ensure accessible and affordable quality care to persons with spine disorders, injuries and related disabilities throughout the lifespan.-promote and facilitate healthy lifestyle choices (including physical activity, nutrition, smoking cessation) to improve spine wellness and health. Discussion and conclusion: SPINE20 proposes that focusing on the recommendations would facilitate equitable access to health systems, affordable spine care delivered by a competent healthcare workforce, and education of persons with spine disorders, which will contribute to reducing spine disability, associated poverty, and increase productivity of the G20 nations.

A Health Profile of African Immigrant Men in the United States.

African immigrants (AI) are the fastest growing group of immigrants to the U.S. however, their health and health practices remains poorly characterized. Thus, this study aimed to describe the health profile of this under-described U.S. population. In order to contextualize their health profiles, we compared AI (n=95) to other U.S. Black populations, namely African Americans (AA, n=271) and Caribbean American (CA, n=203) immigrants. We used cross-sectional survey data from a prostate cancer health study with 569 Black adult male participants, ages 21 years or older. Demographic characteristics were compared using Chi-square tests and prevalence ratios, and prevalence odds ratios (POR) were estimated for AIs compared to AA and CA immigrants using a log-binomial regression model. Results revealed that AI exhibited significantly lower prevalence of asthma and diabetes, when compared to AA and CA immigrants. Furthermore, AI reported lower consumption of alcohol than AA (POR, 0.43, 95%CI 0.24, 0.75) and lower smoking prevalence than AA (POR, 0.19, 95%CI 0.05, 0.70) and CA immigrants (POR, 0.21, 95%CI 0.05, 0.76). Additionally, AI reported significantly lower medical mistrust than CA (POR, 0.51, 95%CI 0.26, 0.95), significantly low financial strain than CAs immigrants (POR, 1.66, 95%CI 1.00, 2.75) and significantly higher levels of religious coping than both AA (POR, 2.43, 95%CI 1.43, 4.12) and CA immigrant men (POR, 1.78, 95%CI 1.03, 3.08). This study further supports emerging evidence that Blacks in the U.S. are not a monolithic group and that it is necessary to assess the Black subgroups separately. In addition, as one of the fastest growing immigrant populations, it is critical for future research to understand African immigrant's health needs and its correlates.

Advice-giving skills in pre-registration physiotherapy training.

BACKGROUND: With increased emphasis on self-management in healthcare, clinicians need outstanding skills in offering advice and empowering patients to attain an optimal outcome. OBJECTIVES: This study explores how undergraduate physiotherapists acquire knowledge, skills, and confidence to offer advice to patients in clinical practice. METHODS: Convenience sampling was used to recruit 50 BSc and MSc pre-registration physiotherapy students across all years of study in one university in southern England, UK. Semi-structured interviews were conducted for first year BSc students (n = 13). Six focus groups of mixed BSc and MSc students were conducted, three groups (n = 15 students) were mid-training, and three groups (n = 22 students) were in their final year. RESULTS: Thematic analysis identified 6 themes: advice content; a patient-centered approach; delivery; acquisitions; perceptions; and uptake of advice. Students placed high value on advice-giving, drawing upon multiple learning opportunities, however they felt under-prepared to deliver this skill in practice. Furthermore, perceptions of their student status, and pressures to perform on graded placements were reported to influence the advice they offered to patients. CONCLUSIONS: Developing high-level skills in promoting self-management is essential in physiotherapy, this study highlights the challenges for students to develop these skills. Academic and practice educators must explicitly enable and support students to develop the knowledge and skills to confidently offer high-quality advice to patients.

Development and testing of a bespoke cultural intervention to support healthcare professionals with patients from a diverse background.

OBJECTIVE: Development and test of a culturally sensitive intervention for rheumatology healthcare professionals (HCPs). METHODS: Using a before and after study design, fifteen HCPs were recruited to undertake the bespoke intervention from four NHS sites across England, in areas serving a diverse population. The intervention was evaluated using the validated outcomes: [1] Patient Reported Physician Cultural Competency (PRPCC); and [2] Patient Enablement Instrument (PEI), measuring patients' perceptions of their overall healthcare delivery. Additionally, HCPs completed the Capability COM-B questionnaire (C), Opportunity (O) and Motivation (M) to perform Behaviour (B), measuring behaviour change. RESULTS: 200 patients were recruited before HCPs undertook the intervention (cohort 1), and 200 were recruited after (cohort 2) from fifteen HCPs, after exclusions 178 patients remained in cohort 1 and 186 in cohort 2. Patients identifying as White in both recruited cohorts were 60% compared with 29% and 33% of patients (cohorts 1 and 2 respectively) who identified as of South Asian origin. After the intervention, the COM-B scores indicated HCPs felt more skilled and equipped for consultations. No significant differences were noted in the average overall cultural competency score between the two cohorts in White patients (57.3 vs 56.8, p= 0.8), however, in the South Asian cohort, there was a statistically significant improvement in mean scores (64.1 vs 56.7, p= 0.014). Overall, the enablement score also showed a statistically significant improvement following intervention (7.3 vs 4.3, p< 0.001) in the White patients; and in the South Asian patients (8.0 vs 2.2, p< 0.001). CONCLUSION: This novel study provides evidence for improving cultural competency and patient enablement in rheumatology settings.

"You just want someone to help": Outcomes that matter to parents when their child is treated for chronic pain.

In children's chronic pain services, healthcare decisions involve a three-way interaction between the child, their parent or guardian, and the health professional. Parents have unique needs, and it is unknown how they visualize their child's recovery and which outcomes they perceive to be an indication of their child's progress. This qualitative study explored the outcomes parents considered important, when their child was undergoing treatment for chronic pain. A purposive sample of twenty-one parents of children receiving treatment for chronic musculoskeletal pain, completed a one-off semi-structured interview that involved drawing a timeline of their child's treatment. The interview and timeline content were analyzed using thematic analysis. Four themes are evident at different points of the child's treatment course. The "perfect storm" that described their child's pain starting, "fighting in the dark" was a stage when parents focused on finding a service or health professional that could solve their child's pain. The third stage, "drawing a line under it," changed the outcomes parents considered important, parents changed how they approached their child's pain and worked alongside professionals, focusing on their child's happiness and engagement with life. They watched their child make positive change and moved toward the final theme "free." The outcomes parents considered important changed over their child's treatment course. The shift described by parents during treatment appeared pivotal to the recovery of young people, demonstrating the importance of the role of parents within chronic pain treatment.

Shared decision-making during prostate cancer consultations: Implications of clinician misalignment with patient and partner preferences.

Concepts of patient-centredness and shared decision-making inform expectations that clinicians should display sensitivity to patients' expressed preferences. This study examines the organisation of treatment-related preferences expressed by patients and their partners during clinical consultations for people with localised prostate cancer. A conversation analysis of twenty-eight diagnosis and treatment consultations was conducted with data recorded from four clinical sites across England. When clinicians disaligned from expressions of preference such as directing talk away from expressions, or moving to redress perceived misunderstandings, it caused discordance in the unfolding interaction. This led to couples silencing themselves. Two deviant cases were identified that did not feature the misalignment found in all other collected cases. In these two cases, the interaction remained collaborative. These findings highlight the immediate consequences of expressions of preference being resisted, rejected, and dismissed in a context where clinicians are expected to explore expressed preferences in service of SDM. The deviant case analysis offers an alternative practice to the pattern observed across the collection, offering a comparison between misaligned sequences, and cases where social solidarity was maintained. By acknowledging couple's expressions as valid contributions, rather than acting to inform or correct them, clinicians can create opportunity spaces for discussion around treatment preferences.

Speaking out of turn: Implications of partner contributions for patient autonomy during prostate cancer consultations.

OBJECTIVE: This research examines how partners contribute to clinical consultations for people with prostate cancer. It highlights a social practice where a partner responds to talk that addresses a patient. METHODS: A conversation analysis of twenty-eight prostate cancer treatment and diagnostic consultations was carried out using data collected from four clinical sites across England. RESULTS: The analysis demonstrated that this practice was prosocial and patient enabling. Partners oriented to the patient's primary rights to take their turn as the selected next speaker, only initiating after a substantial delay from the clinician's turn-at-talk. Consequently, the partner consistently opened an opportunity space that the patient took to elaborate upon, or collaborate with the partners' turn as they regularly took up a unified stance resisting the individualised configuration of the encounter. CONCLUSION: This research highlights the social and clinical utility of partners during these consultations, as they served as important, yet underutilised interactional and informational resources for clinicians and patients. PRACTICE IMPLICATIONS: This research indicates a need to reconsider the configuration of these consultations and sanction partners as formal participants. Absent of this, partners will continue to have to work to insert their contributions into consultations while resisting the dyadic structure of these interactions.

Developing a Memory and Communication App for Persons Living With Dementia: An 8-Step Process.

INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.3928/19404921-20210825-02.

Factors Predicting Mental Health Among Women in Low-Income Communities of a Changing Society: A Mixed-Methods Study.

Purpose: To explore women's mental health in India's rapidly changing society. Participants and Methods: A convenience sample of low-income women (N = 286) in a medium-sized city in South-India participated in a mixed-methods, exploratory study in 2022. Institutional Review Board (IRB) approval was received from Loma Linda University in the US, and Christian Medical College-Vellore in India, in accordance with the declaration of Helsinki, prior to data collection. All study materials were forward and back translated for Tamil, the local language. Phase 1(n = 25) involved audio recorded key-informant interviews and focus groups. Verbatim transcripts were inductively coded, and emerging themes identified. Phase 2 (n = 261) entailed a quantitative survey including demographics, health history, and validated scales measuring mental health symptoms, coping strategies, social support, living situation, and life satisfaction. Data collectors were gender and language matched, research trained, community health nurses. Results: Qualitative themes included: 1) benefits of living in the city, 2) double duty for women doing household work and paid work, 3) challenges of living in the urban environment, 4) advantages of living in the village, 5) struggles associated with village life. Quantitative results: the average Hopkins Symptoms Checklist (HSCL) score of 1.82 (SD = 0.70) exceeded the 1.65 cut-off score for anxiety and depression symptomology. Among participants with elevated HSCL scores (n = 129) the average was markedly elevated (M = 2.39, SD = 0.56). These women were more likely to rely on wishful thinking, religious coping, and reported more post-migration living difficulties, less social support, and less satisfaction with life. Regression analysis further explored variables associated with participant HSCL scores. Conclusion: In this sample of low-income urban-dwelling women depression and anxiety symptomology was elevated. Given the limited mental health workforce and cultural stigmatization of mental health issues, further attention is required.

Nurse practitioners and the Fulbright Scholar Program: My experience in India.

ABSTRACT: The Fulbright Scholar Program offers numerous awards, presenting nurse practitioners with opportunities to interact with colleagues around the world. As increasing acceptance of the nurse practitioner role is gaining acceptance and being defined in various countries across the world, with expanding role definitions, this represents a trailblazing opportunity to influence global representation. The recent completion of a Fulbright award experience in India is provided as an exemplar of the Fulbright opportunity. Nurse practitioner program development and continuing education are key to enhancing patient care and access to care among patients who need it most. To be a part of the effort to prepare nurse practitioners everywhere expands the reach beyond that of an individual nurse practitioner. We can learn from each other, share strategies for implementation across settings, and together address barriers to practice.

PhD-Prepared Nurses' Areas of Inquiry.

BACKGROUND: Nursing science is heavily dependent on nurse scientists with adequate funding. Nurse scientists should be aware of organizations' research agendas and, to the extent possible, align research with stated research priorities. Current information on the demographics of nurse scientists, their projects, and the alignment to known priorities is illusive. PURPOSE: To describe areas of inquiry pursued by PhD-prepared nurses and congruence with the research agendas of nursing organizations. METHODS: A descriptive, exploratory approach was undertaken with PhD-prepared nurse scientists to gather data about their PhD program, dissertation topic, current work status, productivity, and future recommendations. RESULTS: Key findings were that dissertation topics were broad and aligned with research priorities. Elements influencing research productivity are described. CONCLUSIONS: Understanding current nursing science stewardship and intentionally strategizing for the future of research, academia, and clinical practice will enhance our ability to tailor PhD programs accordingly.

A systematic review and meta-analysis: Assessment of hospital walking programs among older patients.

AIM: The aim of this study is to assess effect of hospital walking programs on outcomes for older inpatients and to characterize hospital walking dose reported across studies. DESIGN: A systematic review and meta-analysis examining impact of hospital walking and/or reported walking dose among medical-surgical inpatients. For inclusion, studies were observational or experimental, published in English, enrolled inpatients aged ≥ 65 yrs hospitalized for medical or surgical reasons. METHODS: Searches of PubMed, CINAHL, Embase, Scopus, NICHSR, OneSearch, ClinicalTrials.gov, and PsycINFO were completed in December 2020. Two reviewers screened sources, extracted data, and performed quality bias appraisal. RESULTS: Hospital walking dose was reported in 6 studies and commonly as steps/24 hr. Length of stay (LOS) was a common outcome reported. Difference in combined mean LOS between walking and control groups was -5.89 days. Heterogeneity across studies was considerable (I2  = 96%) suggesting poor precision of estimates. Additional, high-quality trials examining hospital walking and patient outcomes of older patients is needed.

Preserving the Bedside Nurse: Grip Strength and Orthopedic Problems Among Nurses and Nursing Students.

BACKGROUND: Bedside nurses and nursing students are at increased risk of musculoskeletal injury due to the physicality and complexity of their work. The purpose of this study was to explore the relationship between grip strength and orthopedic injuries or pain among nurses and nursing students. METHODS: A cross-sectional study of nursing staff and nursing students at a health sciences university was conducted. The survey consisted of work-related demographics, exercise habits, and validated scales. The Nordic Musculoskeletal Questionnaire was used to collect information on musculoskeletal problems. Anthropomorphic measures included height, weight, body mass index (BMI), and grip strength. Logistic regression was performed. FINDINGS: Participants with grip strength at or above the national average had significantly lower odds of self-reported orthopedic problems, B = 0.86, OR = 2.35, p =.01, indicating participants with grip strength at or above national average were 135% less likely to report orthopedic problems compared to participants with grip strength below the national average. CONCLUSION/APPLICATION TO PRACTICE: Healthcare workers in direct patient care who have lower grip strength may be at increased risk for injuries. Nursing staff and students with below average grip strength were more likely to experience orthopedic problems. Increased muscle mass and grip strength are known to effectively reduce the risk of upper extremity injuries. Nurse leaders may benefit from promoting grip strengthening activities among employees to prevent workplace injuries. Further research is needed to understand the biophysiological mechanisms, confirm the findings of this study and evaluate effective interventions.

Social Empathy and Associated Factors Among Nurses: An Observational Study.

Integral to holistic "big picture" nursing care is an empathy that strives for social justice. Social empathy requires more than technical skills or even interpersonal empathy or other-focus; it also requires a perspective that appreciates the impact of social determinants and seeks action to address them. This study sought to measure social empathy and potentially associated demographic, personal, and work-related factors among nurses. This cross-sectional, observational study used online survey methods to collect data from 614 registered nurses employed in a faith-based health care system in the northwestern United States. Constructs measured included social empathy, social advocacy, self-compassion, emotional exhaustion, and trust/mistrust in God. Parametric statistical tests, including multiple logistic regression, allowed analyses. Findings indicated that social empathy was high in this sample. Younger nurses, those more inclined to advocate, those more self-compassionate, those less burned out, those working part-time (in contrast only with those working overtime), and those with at least a baccalaureate degree in nursing were more socially empathic. Findings highlight further rationale for creating healthy work environments that foster self-compassion and minimize burnout.