Implementation of the 'TAKE STOCK' Hot Debrief Tool in the ED: a quality improvement project.

Hot debriefing (HoD) describes a structured team-based discussion which may be initiated following a significant event. Benefits may include improved teamwork, staff well-being and identification of learning opportunities. Existing literature indicates that while staff value HoD following significant events, it is infrequently undertaken in practice. Internationally, several frameworks for HoD have been developed, although none are widely adopted for use in the ED. A quality improvement project was conducted to introduce HoD into a single UK ED in North West England, between January and March 2019. Following stakeholder consultation, the 9-item 'TAKE STOCK' tool was developed. Implementation of the tool increased the number of HoD (0-2.2 HoD episodes/week). Findings from the first plan-do-study-act (PDSA) cycle are presented, which revealed the key strengths and limitations of this model. Staff perceptions of the tool were evaluated using a self-administered short questionnaire designed by the authors. Satisfaction with TAKE STOCK was assessed using 10-point numerical scales. Across respondents (n-15), average satisfaction scores exceeded 9 out of 10 concerning patient care, staff self-care, decision-making, education, teamwork and identification of equipment issues. Implementation of HoD into the ED is feasible and viewed as beneficial by staff. Implementation toolkits for TAKE STOCK have been requested by 42 additional UK hospitals and ambulance trusts, demonstrating significant interest in its use. Research is now required to formally validate HoD frameworks for use in the ED, and assess whether HoD results in sustained improvements to staff and patient outcomes.

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.

In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings.

An atypical p.N215S variant of Fabry disease with end-stage renal failure.

Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances, angiokeratoma, cornea verticillata renal failure, and cardiovascular disease. We describe two brothers exhibiting the GLA p.N215S mutation, a variant most often conferring a late-onset disease confined to the myocardium. The proband was diagnosed aged 34, following investigation into proteinuria. Despite Enzyme Replacement Therapy, he progressed to end-stage renal failure, and subsequently received a renal transplant. He also developed hypertrophic cardiomyopathy. His sibling however, whose disease was detected aged 32 following screening, exhibits mild left ventricular hypertrophy, and no evidence of renal disease. He remains clinically asymptomatic. This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation. Despite the fact that in the majority of patients this mutation is associated with a late onset presentation with hypertrophic cardiomyopathy, we have clearly demonstrated that patients with GLA p.N215S mutation can present with the classical phenotype. Further studies are required to elucidate the underlying modifying factors that influence clinical presentation with a more severe phenotype.