Arrhythmias and cardiac MRI associations in patients with established cardiac dystrophinopathy.

AIMS: Some patients with cardiac dystrophinopathy die suddenly. Whether such deaths are preventable by specific antiarrhythmic management or simply indicate heart failure overwhelming medical therapies is uncertain. The aim of this prospective, cohort study was to describe the occurrence and nature of cardiac arrhythmias recorded during prolonged continuous ECG rhythm surveillance in patients with established cardiac dystrophinopathy and relate them to abnormalities on cardiac MRI. METHODS AND RESULTS: A cohort of 10 patients (36.3 years; 3 female) with LVEF<40% due to Duchenne (3) or Becker muscular (4) dystrophy or Duchenne muscular dystrophy-gene carrying effects in females (3) were recruited, had cardiac MRI, ECG signal-averaging and ECG loop-recorder implants. All were on standard of care heart medications and none had prior history of arrhythmias.No deaths or brady arrhythmias occurred during median follow-up 30 months (range 13-35). Self-limiting episodes of asymptomatic tachyarrhythmia (range 1-29) were confirmed in 8 (80%) patients (ventricular only 2; ventricular and atrial 6). Higher ventricular arrhythmia burden correlated with extent of myocardial fibrosis (extracellular volume%, p=0.029; native T1, p=0.49; late gadolinium enhancement, p=0.49), but not with LVEF% (p=1.0) on MRI and atrial arrhythmias with left atrial dilatation. Features of VT episodes suggested various underlying arrhythmia mechanisms. CONCLUSIONS: The overall prevalence of arrhythmias was low. Even in such a small sample size, higher arrhythmia counts occurred in those with larger scar burden and greater ventricular volume, suggesting key roles for myocardial stretch as well as disease progression in arrhythmogenesis. These features overlap with the stage of left ventricular dysfunction when heart failure also becomes overt. The findings of this pilot study should help inform the design of a definitive study of specific antiarrhythmic management in dystrophinopathy. TRIAL REGISTRATION NUMBER: ISRCTN15622536.

Shining a light on the road towards conducting principle-based co-production research in rehabilitation.

Moving from participatory approaches incorporating co-design to co-production in health research involves a commitment to full engagement and partnership with people with lived experience through all stages of the research process-start to finish. However, despite the increased enthusiasm and proliferation of research that involves co-production, practice remains challenging, due in part to the lack of consensus on what constitutes co-production, a lack of guidance about the practical steps of applying this approach in respect to diverse research methods from multiple paradigms, and structural barriers within academia research landscape. To navigate the challenges in conducting co-produced research, it has been recommended that attention be paid to focusing and operationalising the underpinning principles and aspirations of co-production research, to aid translation into practice. In this article, we describe some fundamental principles essential to conducting co-production research (sharing power, relational resilience, and adopting a learning mindset) and provide tangible, practical strategies, and processes to engage these values. In doing so, we hope to support rehabilitation researchers who wish to engage in co-production to foster a more equitable, ethical, and impactful collaboration with people with lived experience and those involved in their circle of care.

Understanding the Electrical Substrates Contributing to "Ablation-Resistant" Atrial Fibrillation?

Atrial fibrillation (AF) was largely ignored by cardiac electrophysiologists until it was first suggested in 1998 that it might be amenable to catheter ablation. In the 25 years since then, a vast body of knowledge has emerged, initially reporting the "hypes and hopes" that ablation was appropriate for all but more recently acknowledging that not all patients benefit from this approach. The AF "epidemic" and more holistic understanding of the complex contributors to its development question whether it is even meaningful to consider AF a single condition that is always responsive to ablation management. In this issue, Masuda et al11 provide novel insights into the electrophysiologic "footprints" that they found in the body of the left atrium of patients who underwent a second ablation procedure after achieving pulmonary vein isolation. In conclusion, the findings require prospective validation but may show a way of achieving antiarrhythmic success in a cohort of patients responding unpredictably to current ablation strategies.

Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.

BACKGROUND AND PURPOSE: The transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This study aims (1) to describe treatment, functional abilities, respiratory and cardiac status during transition to adulthood and adult stages; and (2) to explore the association between glucocorticoid treatment after loss of ambulation (LOA) and late-stage clinical outcomes. METHODS: This was a retrospective single-centre study on individuals with Duchenne muscular dystrophy (≥16 years old) between 1986 and 2022. Logistic regression, Cox proportional hazards models and survival analyses were conducted utilizing data from clinical records. RESULTS: In all, 112 individuals were included. Mean age was 23.4 ± 5.2 years and mean follow-up was 18.5 ± 5.5 years. At last assessment, 47.2% were on glucocorticoids; the mean dose of prednisone was 0.38 ± 0.13 mg/kg/day and of deflazacort 0.43 ± 0.16 mg/kg/day. At age 16 years, motor function limitations included using a manual wheelchair (89.7%), standing (87.9%), transferring from a wheelchair (86.2%) and turning in bed (53.4%); 77.5% had a peak cough flow <270 L/min, 53.3% a forced vital capacity percentage of predicted <50% and 40.3% a left ventricular ejection fraction <50%. Glucocorticoids after LOA reduced the risk and delayed the time to difficulties balancing in the wheelchair, loss of hand to mouth function, forced vital capacity percentage of predicted <30% and forced vital capacity <1 L and were associated with lower frequency of left ventricular ejection fraction <50%, without differences between prednisone and deflazacort. Glucocorticoid dose did not differ by functional, respiratory or cardiac status. CONCLUSION: Glucocorticoids after LOA preserve late-stage functional abilities, respiratory and cardiac function. It is suggested using functional abilities, respiratory and cardiac status at transition stages for adult services planning.

Using the consolidated Framework for Implementation Research to integrate innovation recipients' perspectives into the implementation of a digital version of the spinal cord injury health maintenance tool: a qualitative analysis.

BACKGROUND: Despite advances in managing secondary health complications after spinal cord injury (SCI), challenges remain in developing targeted community health strategies. In response, the SCI Health Maintenance Tool (SCI-HMT) was developed between 2018 and 2023 in NSW, Australia to support people with SCI and their general practitioners (GPs) to promote better community self-management. Successful implementation of innovations such as the SCI-HMT are determined by a range of contextual factors, including the perspectives of the innovation recipients for whom the innovation is intended to benefit, who are rarely included in the implementation process. During the digitizing of the booklet version of the SCI-HMT into a website and App, we used the Consolidated Framework for Implementation Research (CFIR) as a tool to guide collection and analysis of qualitative data from a range of innovation recipients to promote equity and to inform actionable findings designed to improve the implementation of the SCI-HMT. METHODS: Data from twenty-three innovation recipients in the development phase of the SCI-HMT were coded to the five CFIR domains to inform a semi-structured interview guide. This interview guide was used to prospectively explore the barriers and facilitators to planned implementation of the digital SCI-HMT with six health professionals and four people with SCI. A team including researchers and innovation recipients then interpreted these data to produce a reflective statement matched to each domain. Each reflective statement prefaced an actionable finding, defined as alterations that can be made to a program to improve its adoption into practice. RESULTS: Five reflective statements synthesizing all participant data and linked to an actionable finding to improve the implementation plan were created. Using the CFIR to guide our research emphasized how partnership is the key theme connecting all implementation facilitators, for example ensuring that the tone, scope, content and presentation of the SCI-HMT balanced the needs of innovation recipients alongside the provision of evidence-based clinical information. CONCLUSIONS: Understanding recipient perspectives is an essential contextual factor to consider when developing implementation strategies for healthcare innovations. The revised CFIR provided an effective, systematic method to understand, integrate and value recipient perspectives in the development of an implementation strategy for the SCI-HMT. TRIAL REGISTRATION: N/A.

Co-design of the Spinal Cord Injury Health Maintenance Tool to Support Self-Management: A Mixed-Methods Approach.

Background: There is a lack of consumer-friendly tools to empower and support people living with spinal cord injury (SCI) to self-manage complex health needs in community. This article describes the co-design process of the new SCI Health Maintenance Tool (SCI-HMT). Methods: Co-design of the SCI-HMT using a mixed-methods approach included a rapid review, e-Delphi surveys with range of multidisciplinary health care professionals (n = 62), interviews of participants with SCI (n = 18) and general practitioners (n = 4), focus groups (n = 3 with 7, 4, and 4 participants with SCI, respectively), design workshops with stakeholders (n = 11, 8), and end-user testing (n = 41). Results: The SCI-HMT (healthmaintenancetool.com) was developed based on participatory research with data synthesis from multiple sources. Five priority health maintenance issues for bladder, bowel, skin, pain, and autonomic dysreflexia were originally covered. Best practice recommendations, red flag conditions, referrals, and clinical pathways were agreed on through an e-Delphi technique. Qualitative analysis identified six broad key concepts for self-management, including early symptom recognition, role of SCI peers, knowledge sharing with primary care, general practitioners as gatekeepers, and shared decision-making and highlighted a need to place much stronger emphasis on mental health and well-being. Design workshops and end-user testing provided key insights about user experience, functionality, and content for the SCI-HMT. Conclusion: The co-design process engaging end users, including people with SCI and general practitioners, enabled a shared understanding of the problem and identification of important needs and how to meet them. Informed by this process, the SCI-HMT is a freely accessible resource supporting SCI self-management, shared decision-making, and early problem identification.

Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.

Significant inconsistencies in respiratory care provision for Duchenne muscular dystrophy (DMD) are reported across different specialist neuromuscular centres in the UK. The absence of robust clinical evidence and expert consensus is a barrier to the implementation of care recommendations in public healthcare systems as is the need to increase awareness of key aspects of care for those living with DMD. Here, we provide evidenced-based and/or consensus-based best practice for the respiratory care of children and adults living with DMD in the UK, both as part of routine care and in an emergency. METHODOLOGY: Initiated by an expert working group of UK-based respiratory physicians (including British Thoracic Society (BTS) representatives), neuromuscular clinicians, physiotherapist and patient representatives, draft guidelines were created based on published evidence, current practice and expert opinion. After wider consultation with UK respiratory teams and neuromuscular services, consensus was achieved on these best practice recommendations for respiratory care in DMD. RESULT: The resulting recommendations are presented in the form of a flow chart for assessment and monitoring, with additional guidance and a separate chart setting out key considerations for emergency management. The recommendations have been endorsed by the BTS. CONCLUSIONS: These guidelines provide practical, reasoned recommendations for all those managing day-to-day and acute respiratory care in children and adults with DMD. The hope is that this will support patients and healthcare professionals in accessing high standards of care across the UK.

Heart Rate Variability Biofeedback in Adults with a Spinal Cord Injury: A Laboratory Framework and Case Series.

Heart rate variability biofeedback (HRV-F) is a neurocardiac self-regulation therapy that aims to regulate cardiac autonomic nervous system activity and improve cardiac balance. Despite benefits in various clinical populations, no study has reported the effects of HRV-F in adults with a spinal cord injury (SCI). This article provides an overview of a neuropsychophysiological laboratory framework and reports the impact of an HRV-F training program on two adults with chronic SCI (T1 AIS A and T3 AIS C) with different degrees of remaining cardiac autonomic function. The HRV-F intervention involved 10 weeks of face-to-face and telehealth sessions with daily HRV-F home practice. Physiological (HRV, blood pressure variability (BPV), baroreflex sensitivity (BRS)), and self-reported assessments (Fatigue Severity Scale, Generalised Anxiety Disorder Scale, Patient Health Questionnaire, Appraisal of Disability and Participation Scale, EuroQol Visual Analogue Scale) were conducted at baseline and 10 weeks. Participants also completed weekly diaries capturing mood, anxiety, pain, sleep quality, fatigue, and adverse events. Results showed some improvement in HRV, BPV, and BRS. Additionally, participants self-reported some improvements in mood, fatigue, pain, quality of life, and self-perception. A 10-week HRV-F intervention was feasible in two participants with chronic SCI, warranting further investigation into its autonomic and psychosocial effects.

Complex lived experiences and hidden disability after spinal cord injury: a latent profile analysis of the Australian arm of the International Spinal Cord Injury (Aus-InSCI) Community Survey.

PURPOSE: To identify and examine subgroups of people with spinal cord injury (SCI) with different patterns of lived experience, and examine hidden impairments and disability among functionally independent and ambulant people. MATERIALS AND METHODS: Latent profile analysis of population-based data from the Australian arm of the International Spinal Cord Injury (InSCI) Community survey (n = 1579). RESULTS: Latent subgroups reflected levels of functional independence and extent of problems with health, activity/participation, environmental barriers, and self-efficacy. Quality of life (QoL), psychological profiles, and activity/participation were often as good or better in participants who reported lower (vs. higher) functional independence alongside comparable burden of health problems and environmental barriers. QoL, mental health, and vitality reflected self-efficacy and problem burdens more closely than functional independence. Ambulant participants reported a substantial burden of underlying, potentially hidden impairments, with QoL and mental health similar to wheelchair users. CONCLUSION: Hidden disability among more independent and/or ambulant people with SCI can affect well-being substantially. Early and ongoing access to support, rehabilitation, and SCI specialist services is important irrespective of cause, type, severity of injury, and level of functional independence. Improved access to SCI expertise and equity of care would help to improve early recognition and management of hidden disability. TRIAL REGISTRATION: Not applicable.

Hidden disability can substantially affect the well-being and quality of life of people with spinal cord injury (SCI) who appear to be functioning well and independently.Early and ongoing access to rehabilitation and SCI specialist services is important for people with SCI of any cause, type, severity, and level of functional independence.The potential for and implications of hidden disability are key considerations for the broader community of health practitioners who manage people with SCI, to ensure that appropriate referrals to specialist SCI services occur.Hidden disability is a key consideration in the design and implementation of disability support systems.

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.

BACKGROUND AND AIMS: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. METHODS: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). RESULTS: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3-109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2-60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .09). CONCLUSIONS: Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.

United and flexible: a collaborative approach to early vocational rehabilitation on a spinal unit. A realist study.

STUDY DESIGN: Qualitative study using realist review. OBJECTIVES: To conceptualise how Early Intervention Vocational Rehabilitation (EIVR) functions within inpatient multidisciplinary contexts during spinal cord injury (SCI) rehabilitation. SETTING: New Zealand Spinal Unit. METHODS: People with newly acquired SCI and members of their rehabilitation team were observed in a range of rehabilitation sessions, team meetings and therapeutic interactions. Participants were also interviewed to explore how EIVR functioned alongside the multidisciplinary team (MDT). Interviews and observations were transcribed, coded and analysed using realist methods. RESULTS: We identified three primary contexts which influenced how EIVR was delivered within the MDT: (1) a united approach, (2) a flexible approach, and (3) a hesitant approach. These contexts generated four work-related outcomes for people with SCI; enhanced work self-efficacy, strengthened hope for work, maintained work identity, and the less desirable outcome of increased uncertainty about work. CONCLUSIONS: To optimise work outcomes for people after SCI, it is important to consider how EIVR is delivered and integrated within the wider MDT. Such an understanding can also inform the establishment of new EIVR services in different settings. Results suggest that unity, flexibility and clarity between EIVR services and the wider MDT are essential foundations for supporting people with SCI on their journey to employment. SPONSORSHIP: This research was funded by Health Research Council NZ grant in partnership with Canterbury District Health Board.

Biological and JAK inhibitor therapy outcomes for severe psoriasis in trisomy 21.

Little is known about biological outcomes for severe psoriasis in trisomy 21 (T21). Our aim was to review outcomes of patients with T21 and severe psoriasis treated with biologic or Janus kinase inhibitors (JAKi). Information on demographics, co-morbidities, and therapeutic responses was retrospectively collated. Twenty-one patients were identified (mean age 24.7 years). Ninety percent (18/20) of TNFα inhibitor trials failed. Almost two-thirds (7/11) of patients achieved an adequate response with ustekinumab. All three patients treated with tofacitinib achieved an adequate response following at least three biologic failures. The mean number of biologic/JAKi therapies received was 2.1 with overall survival of 36%. Eighty-one percent (17/21) of patients required conversion from their index biologic treatment due to failure. In patients with T21 and severe psoriasis, failure of TNFα inhibition is common and ustekinumab therapy should be considered as first-line therapy. The role of JAKi is emerging.

Recommendation to update the British Society for Cutaneous Allergy corticosteroid series.

BACKGROUND: Patch testing is an important investigation when dermatitis is unresponsive to, or worsened by, topical corticosteroid treatment. There is a balance to be struck between testing too many allergens, which is expensive, time consuming and risks causing sensitization, and testing too few, which risks missing the diagnosis. The current British Society for Cutaneous Allergy (BSCA) corticosteroid series comprises eight allergens and was last updated in February 2007. AIM: To review and update the BSCA corticosteroid series. METHODS: We retrospectively analysed data from 16 patch test centres in the UK and Ireland for all patients who were patch tested to a corticosteroid series between August 2017 and July 2019. We recorded the allergens tested, the number and percentage tested to a corticosteroid series and the number of positive results for each allergen. We identified the allergens that test positive in ≥ 0.1% of selectively tested patients. RESULTS: Overall, 3531 patients were tested to a corticosteroid series in the 16 centres. The number of allergens tested ranged from 7 to 18 (mean 10). The proportion of patch test patients who were tested to a corticosteroid series ranged from 1% to 99%. Six allergens in the 2017 BSCA series tested positive in ≥ 0.1% of patients. Nine allergens not in the BSCA corticosteroid series tested positive in ≥ 0.1% of patients. CONCLUSION: This audit demonstrates the importance of regular review of recommended series and the significant variations in practice. The new BSCA corticosteroid series that we recommend contains 13 haptens, with the addition of the patient's own steroid creams as appropriate.

Benefits and limitations of the transfer online of Irish College of General Practitioners (ICGP) continuing medical education (CME) small group learning (SGL) during COVID-19: a national Delphi study.

INTRODUCTION: In Ireland, continuing medical education (CME) small group learning (SGL) has been shown to be an effective way of delivering CME, particularly for rural general practitioners (GPs). This study sought to determine the benefits and limitations of the relocation of this education from face to face to online learning during COVID-19. METHODS: A Delphi survey method was used to obtain a consensus opinion from a group of GPs recruited via email through their respective CME tutors, and who had consented to participate. The first round gathered demographic details and asked doctors to report the benefits and/or limitations of learning online in their established Irish College of General Practitioners (ICGP) small groups. RESULTS: A total of 88 GPs from 10 different geographical areas participated. Response rates in rounds one, two and three were 72%, 62.5% and 64%, respectively. The study group was 40% male; 70% were in practice ≥15 years, 20% practiced rurally, and 20% were single-handed. Attending established CME-SGL groups allowed GPs to discuss the practical application of rapidly changing guidelines both in COVID-19 and non-COVID-19 care. They could discuss new local services and compare their practice with others during a time of change; this helped them feel less isolated. They reported that online meetings were less social; moreover, the informal learning that occurs before and after meetings did not take place. CONCLUSION: GPs in established CME-SGL groups benefited from online learning as they could discuss how to adapt to rapidly changing guidelines while feeling supported and less isolated. They report that face to face meetings offer more opportunities for informal learning.

Radiation-induced morphea of the breast-A case series.

Radiation-induced morphea (RIM) is a rare but recognized late complication of radiotherapy. It was first described in 1905, not long after the initial discovery of X-rays by Roentgen. Characterized by the deposition of excess collagen in the dermis, it results in thickening of the skin. Its frequency is approximately 2 in 1000. We present a series of three cases involving patients receiving radiotherapy treatment for breast cancer, each of which subsequently developed RIM. Because of its rarity, RIM is often misdiagnosed as infection or metastatic disease. This can lead to delayed diagnosis and treatment, leading to poorer outcomes such as chronic pain issues. Early dermatological involvement and tissue sampling to examine histopathological features can avoid this, leading to better care and improved results. A variety of treatment options are available, ranging from topical to systemic, with early induction more likely to result in a positive response.

Disrupted mana and systemic abdication: Maori qualitative experiences accessing healthcare in the 12 years post-injury.

BACKGROUND: Maori have been found to experience marked health inequities compared to non-Maori, including for injury. Accessing healthcare services post-injury can improve outcomes; however, longer-term experiences of healthcare access for injured Maori are unknown. This paper reports on data from the longitudinal Prospective Outcomes of Injury Study - 10 year follow up (POIS-10) Maori study in Aotearoa/New Zealand (NZ), to qualitatively understand Maori experiences of accessing injury-related healthcare services long-term. METHODS: Follow-up telephone interviews were conducted with 305 POIS-10 Maori participants, who were injured and recruited 12-years earlier, experiencing a range of injury types and severities. Free text responses about trouble accessing injury-related health services were thematically analysed. RESULTS: Sixty-one participants (20%) reported trouble accessing injury-related health services and provided free text responses. Three related themes describing participants' experiences were connected by the overarching concept that participants were engaging with a system that was not operating in a way it was intended to work: 1) Competing responsibilities and commitments encapsulates practical barriers to accessing services, such as a lack of time and having to prioritise other responsibilities such as work or whanau (family); 2) Disrupted mana refers to the feelings of personal disempowerment through, for example, receiving limited support, care or information tailored to participants' circumstances and is a consequence of patients contending with the practical barriers to accessing services; and 3) Systemic abdication highlights systemic barriers including conflicting information regarding diagnoses and treatment plans, and healthcare provider distrust of participants. CONCLUSIONS: Twelve years post-injury, a considerable proportion of Maori reported experiencing barriers to accessing healthcare services. To restore a sense of manaakitanga and improve Maori access to healthcare, Maori-specific supports are required and systemic barriers must be addressed and removed.

Early Opportunities to Explore Occupational Identity Change: Qualitative Study of Return-To-Work Experiences After Stroke.

BACKGROUND: Rates of return-to-work after stroke are low, yet work is known to positively impact people's wellbeing and overall health outcomes. OBJECTIVE: To understand return-to-work trajectories, barriers encountered, and resources that may be used to better support participants during early recovery and rehabilitation. PARTICIPANTS: The experiences of 31 participants (aged 25-76 years) who had or had not returned to work after stroke were explored. METHODS: Interview data were analysed using reflexive thematic analysis methods within a broader realist research approach. RESULTS: Participants identified an early need to explore a changed and changing occupational identity within a range of affirming environments, thereby ascertaining their return-to-work options early after stroke. The results articulate resources participants identified as most important for their occupational explorations. Theme 1 provides an overview of opportunities participants found helpful when exploring work options, while theme 2 explores fundamental principles for ensuring the provided opportunities were perceived as beneficial. Finally, theme 3 provides an overview of prioritized return-to-work service characteristics. CONCLUSION: The range and severity of impairments experienced by people following stroke are broad, and therefore their return-to-work needs are diverse. However, all participants, irrespective of impairment, highlighted the need for early opportunities to explore their changed and changing occupational identity.