Belfast City Hospital

People with learning disabilities experience significant health inequalities, with poor oral health acting as a catalyst for wider systemic complications. This article reviews evidence linking poor oral health to cardiovascular disease, nutritional deficiencies, respiratory complications, social isolation and increased healthcare use. Registered nurses for learning disabilities (RNLDs) are uniquely positioned to address these inequalities. Their expertise in sensory processing, communication and individualised care enables them to support individuals and carers with developing effective oral health routines. In the context of workforce depletion, RNLD-led oral health promotion represents a strategic and cost-effective use of scarce resources, with the potential to deliver population-level health improvements.

BackgroundCystic fibrosis (CF), which is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is the most common life-limiting autosomal recessive genetic disease in Northern Ireland. Currently, Northern Ireland has approximately 520 people with CF (PwCF) (312 adults, 208 children) and a defective gene carrier rate of 1 in 22 persons, with approximately 86,507 carriers within the general population. Advances in DNA sequencing technology has allowed for better genetic characterisation of CFTR mutations. The aim of this project was to (i) examine current CFTR mutation frequency and type in paediatric and adult CF populations in Northern Ireland, (ii) examine CFTR mutational trends in relation to CF patients’ age groups, (iii) compare Northern Ireland CFTR most common allele frequencies with those documented globally and (iv) establish a reference/baseline of CFTR mutation information prior to the effect of CFTR modulator therapy.MethodsAnonymised data comprising of birth year, sex, and known alleles of adult and paediatric individuals (n=520) from the Northern Ireland CF population was examined. Alleles were recorded according to legacy, protein and cDNA name and organised by mutation class and type, in accordance with CFTR2 database nomenclature. Individual known alleles frequencies from the complete Northern Ireland CF population (n=1005) were calculated and compared with the CFTR2 database, globally with CFTR data obtained from CF national registries.ResultsWithin the Northern Ireland CF population, there were 61 different CFTR mutational variants identified in a population of 1005 alleles. In descending occurrence, the most common was F508del with 626 alleles (62.3%), followed by R117H (8.9%), G551D (5.0%), G542X (3.3%), R560T (2.8%) and P67L (2.2%). The remaining alleles were present at a frequency of <2.0%. The six most frequently detected CFTR mutations accounted for 84.4% of all alleles. Over approximately two and a half decades (1996-2021), 23 CFTR mutations remain shared. Six alleles, which were described in the 1996 CFTR analysis, were absent from the 2021 data, whilst there were additional descriptions of 39 allelic mutations, which occurred in the 2021 analysis, but which were not described in the 1996 analysis.ConclusionCharacterisation of CFTR mutation alleles from people with cystic fibrosis provides essential information to help predict disease severity and effect of targeted CFTR modulator therapy. These 2021 data provide a valuable genetic update from the 1996 data and a reference point on the status of the Northern Ireland CFTR mutation types and frequencies. CFTR modulator therapy has the potential to indirectly alter the current status quo and distribution of CFTR mutation types amongst children of PwCF, due to improved clinical status and fecundity. Revisiting this in a decade from now will allow an estimation of the indirect influence of CFTR modulator therapy on CFTR mutation evolution.

To explore how learner transformation manifests in a communal arts and humanities (AH) educational activity for medical students. Mixed methods explorative study. UK-based medical school that follows a 5-year case-based learning curricular model. A group of 105 first-year medical students attended a group viewing of a TV documentary titled, 'Life on the List' as part of their core curriculum. The documentary explores the humanistic aspects of kidney disease, organ donation and transplantation by portraying the personal stories of transplant recipients, donors and healthcare professionals. Following the screening, attendees engaged in a question-and-answer session with an expert panel. Perceived transformation of learning was measured using a quantitative Likert-scale paired pre-screening and post-screening questionnaire. Additionally, the qualitative study used facilitated focus groups (FGs) to explore how learners may or may not have transformed their learning based on the AH educational activity. Inclusion criteria were: (a) first-year medical students and (b) those who attended the screening. Those not meeting these criteria were excluded. The quantitative questionnaire was completed by 94 participants, while 19 attended FG interviews. Paired t-tests were conducted to compare pre-screening and post-screening responses across five questions. All results demonstrated statistical significance (p<0.01), reflecting perceived transformation. Using a constructivist approach and drawing on aspects of 'Transformative Learning Theory,' we identified five key themes regarding how learning was transformed: (1) an absorbing experience; (2) confronting and challenging: different ways of seeing the world; (3) collective reflection: the power and safety of the crowd; (4) 'everything just came into perspective': accepting the world in a new way; and (5) willing to change the world: advocacy and agency. By this collective experience focusing on real patient stories and providing an opportunity for discussion and reflection, participants were offered a holistic view on kidney medicine and transplantation. Overwhelmingly, participants were inspired to strive for person-centred care, with many being motivated to explore kidney medicine and transplantation as career options. Couched in pedagogy, an AH educational activity for medical students can leverage learner transformation and promote person-centred care. With respect to kidney medicine, organ donation and transplantation, such activities can provide early career exposure to these fields. Students may be inspired to act as positive ambassadors for organ donation and transplantation and further explore these areas as future career options. Further research should investigate AH interventions in diverse groups from a longitudinal perspective to consider long-term effects in promoting holistic and empathetic patient care.

BackgroundReduced functional capacity increases the risk of adverse outcomes after kidney transplantation. The Duke Activity Status Index is a measurement of physical function, previously reported as being predictive of adverse outcomes after major non-cardiac surgery. This study assessed the ability of the Duke Activity Status Index to predict adverse outcomes for patients undergoing kidney transplantation.MethodsAdult kidney transplant recipients with a Duke Activity Status Index calculated at time of listing for transplantation in Northern Ireland between 2019 and 2024 were analysed. Dichotomous outcomes (delayed graft function, unplanned critical care admission, 30-day hospital re-admission, 30-day severe postoperative complication, 30-day cardiovascular complication) were analysed using multivariate logistic regression. Post-transplant length of stay was assessed using multivariate linear regression. All-cause mortality and death-censored graft loss were evaluated using Cox proportional hazard regression models.ResultsData was available for 408 kidney transplant recipients. Duke Activity Status Index was not predictive of delayed graft function (aOR 0.99 (95% CI 0.66–1.01) p = 0.359), unplanned critical care admission (aOR1.00 (95% CI 0.97–1.04), p = 0.866), length-of-stay post-transplant, 30-day hospital re-admission (aOR1.01 (95% CI 0.99–1.03), p = 0.457), 30-day severe postoperative complication (aOR 1.01 (95% CI 0.99–1.03) p = 0.489), 30-day cardiovascular complication (aOR 0.99 (95% CI 0.93–1.06), p = 0.850), all-cause mortality (aHR 1.00 (0.96–1.04), p = 0.89) or death-censored graft loss (aHR 0.97 (95% CI 0.93–1.01), p = 0.14).ConclusionsIn this cohort, the Duke Activity Status Index was not an independent predictor of short or long-term adverse outcomes following kidney transplantation. These findings suggest that the Duke Activity Status Index may have limited utility in assessing functional capacity in waitlisted kidney transplant candidates.Trial registrationNot applicable.