A Mixed Methods Small Pilot Study to Describe the Effects of Upper Limb Training Using a Virtual Reality Gaming System in People with Chronic Stroke

Introduction. This small pilot study aimed to examine the feasibility of an upper limb rehabilitation system (the YouGrabber) in a community rehabilitation centre, qualitatively explore participant experiences, and describe changes after using it. Methods and Material. Chronic stroke participants attending a community rehabilitation centre in the UK were randomised to either a YouGrabber or a gym group and completed 18 training sessions over 12 weeks. The motor activity log, box and block, and fatigue severity score were administered by a blinded assessor before and after the intervention. Semistructured interviews were used to ascertain participants’ views about using the YouGrabber. Results. Twelve participants (6 females) with chronic stroke were recruited. All adhered to the intervention. There were no adverse events, dropouts, or withdrawal. There were no significant differences between the YouGrabber and gym groups although there were significant within group improvements on the motor activity log (median change: 0.59, range: 0.2–1.25; ) within the YouGrabber group. Participants reported that the YouGrabber was motivational but they expressed frustration with technical challenges. Conclusions. The YouGrabber appeared practical and may improve upper limb activities in people several months after stroke. Future work could examine cognition, cost effectiveness, and different training intensities

Development, behaviour and autism in individuals with SMC1A variants

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. Methods: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. Results: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. Conclusions: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families

Impact of COVID-19 on immunocompromised populations during the Omicron era:insights from the observational population-based INFORM study

Background Immunocompromised individuals are not optimally protected by COVID-19 vaccines and potentially require additional preventive interventions to mitigate the risk of severe COVID-19. We aimed to characterise and describe the risk of severe COVID-19 across immunocompromised groups as the pandemic began to transition to an endemic phase. Methods COVID-19-related hospitalisations, intensive care unit (ICU) admissions, and deaths (01/01/2022-31/12/2022) were compared among different groups of immunocompromised individuals vs the general population, using a retrospective cohort design and electronic health data from a random 25% sample of the English population aged ≥12 years (Registration number: ISRCTN53375662). Findings Overall, immunocompromised individuals accounted for 3.9% of the study population, but 22% (4585/20,910) of COVID-19 hospitalisations, 28% (125/440) of COVID-19 ICU admissions, and 24% (1145/4810) of COVID-19 deaths in 2022. Restricting to those vaccinated with ≥3 doses of COVID-19 vaccine (∼84% of immunocompromised and 51% of the general population), all immunocompromised groups remained at increased risk of severe COVID-19 outcomes, with adjusted incidence rate ratios (aIRR) for hospitalisation ranging from 1.3 to 13.1. At highest risk for COVID-19 hospitalisation were individuals with: solid organ transplant (aIRR 13.1, 95% confidence interval [95% CI] 11.2–15.3), moderate to severe primary immunodeficiency (aIRR 9.7, 95% CI 6.3–14.9), stem cell transplant (aIRR 11.0, 95% CI 6.8–17.6), and recent treatment for haematological malignancy (aIRR 10.6, 95% CI 9.5–11.9). Results were similar for COVID-19 ICU admissions and deaths. Interpretation Immunocompromised individuals continue to be impacted disproportionately by COVID-19 and have an urgent need for additional preventive measures beyond current vaccination programmes. These data can help determine the immunocompromised groups for which targeted prevention strategies may have the highest impact. Funding This study was funded by AstraZeneca UK

Heritability in genetic heart disease : the role of genetic background

Background Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or ` modifier genes'. We aimed to test the prediction that identical genetic backgrounds result in largely similar clinical expression of a cardiac disease causing mutation, by studying the clinical expression of mutations causing cardiac disease in monozygotic twins. Methods We compared first available clinical information on 46 monozygotic twin pairs and 59 control pairs that had either a hereditary cardiomyopathy or channelopathy. Results Despite limited power of this study, we found significant heritability for corrected QT interval (QTc) in long QT syndrome (LQTS). We could not detect significant heritability for structural traits, but found a significant environmental effect on thickness of the interventricular septum in hypertrophic cardiomyopathy. Conclusions Our study confirms previously found robust heritability for electrical traits like QTc in LQTS, and adds information on low or lacking heritability for structural traits in heritable cardiomyopathies. This may steer the search for genetic modifiers in heritable cardiac disease.Peer reviewe

Impacts of Skeletal Anterior Open Bite Malocclusion on Speech

Introduction: Articulation problems are seen in 80% to 90% of dentofacial deformity (DFD) subjects compared with 5% of the general population, impacting communication and quality of life, but the causal link is unclear. We hypothesize there are both qualitative (perceptual) and quantitative (spectral) differences in properties of stop (/t/ or /k/), fricative (/s/ or /ʃ/), and affricate (/tʃ/) consonant sounds and that severity of anterior open bite (AOB) jaw disharmonies correlates with degree of speech abnormality. Methods: To test our hypotheses, surgical orthodontic records and audio recordings were collected from DFD patients (n = 39 AOB, 62 controls). A speech pathologist evaluated subjects, and recordings were analyzed using spectral moment analysis (SMA) to measure sound frequency distortions. Results: Perceptually, there is a higher prevalence of auditory and visual speech distortions in AOB DFD patients when compared to controls. Quantitatively, a significant (P < .01) increase in the centroid frequency (M1) was seen in the /k/, /t/, /tʃ/, and /s/ sounds of AOB subjects compared to the controls. Using linear regression, correlations between AOB skeletal severity and spectral distortion were found for /k/ and /t/ sounds. Conclusions: A higher prevalence of qualitative distortions and significant quantitative spectral distortions in consonant sounds were seen in AOB patients compared to controls. Additionally, severity of skeletal AOB is correlated with degree of distortion for consonant sounds. These findings provide insight into how the surgical and/or orthodontic treatment of AOB may impact speech

The impact of immediate breast reconstruction on the time to delivery of adjuvant therapy: the iBRA-2 study

Background: Immediate breast reconstruction (IBR) is routinely offered to improve quality-of-life for women requiring mastectomy, but there are concerns that more complex surgery may delay adjuvant oncological treatments and compromise long-term outcomes. High-quality evidence is lacking. The iBRA-2 study aimed to investigate the impact of IBR on time to adjuvant therapy. Methods: Consecutive women undergoing mastectomy ± IBR for breast cancer July–December, 2016 were included. Patient demographics, operative, oncological and complication data were collected. Time from last definitive cancer surgery to first adjuvant treatment for patients undergoing mastectomy ± IBR were compared and risk factors associated with delays explored. Results: A total of 2540 patients were recruited from 76 centres; 1008 (39.7%) underwent IBR (implant-only [n = 675, 26.6%]; pedicled flaps [n = 105,4.1%] and free-flaps [n = 228, 8.9%]). Complications requiring re-admission or re-operation were significantly more common in patients undergoing IBR than those receiving mastectomy. Adjuvant chemotherapy or radiotherapy was required by 1235 (48.6%) patients. No clinically significant differences were seen in time to adjuvant therapy between patient groups but major complications irrespective of surgery received were significantly associated with treatment delays. Conclusions: IBR does not result in clinically significant delays to adjuvant therapy, but post-operative complications are associated with treatment delays. Strategies to minimise complications, including careful patient selection, are required to improve outcomes for patients

Integrating social–ecological vulnerability assessments with climate forecasts to improve local climate adaptation planning for coral reef fisheries in Papua New Guinea

A major gap exists in integrating climate projections and social–ecological vulnerability analyses at scales that matter, which has affected local-scale adaptation planning and actions to date. We address this gap by providing a novel methodology that integrates information on: (i) the expected future climate, including climate-related extreme events, at the village level; (ii) an ecological assessment of the impacts of these climate forecasts on coral reefs; and (iii) the social adaptive capacity of the artisanal fishers, to create an integrated vulnerability assessment on coastal communities in five villages in Papua New Guinea. We show that, despite relatively proximate geographies, there are substantial differences in both the predicted extreme rainfall and temperature events and the social adaptive capacity among the five fishing-dependent communities, meaning that they have likely different vulnerabilities to future climate change. Our methodology shows that it is possible to capture social information and integrate this with climate and ecological modeling in ways that are best suited to address the impacts of climate-mediated environmental changes currently underway across different scales