Predicted Deleterious Variants in Cardiomyopathy Genes Prognosticate Mortality and Composite Outcomes in the UK Biobank.

Background: Inherited cardiomyopathies present with broad variation of phenotype. Data are limited regarding genetic screening strategies and outcomes associated with predicted deleterious variants in cardiomyopathy-associated genes in the general population.

Objectives: The authors aimed to determine the risk of mortality and composite cardiomyopathy-related outcomes associated with predicted deleterious variants in cardiomyopathy-associated genes in the UK Biobank.

Achievement of higher thresholds of clinical responses and lower levels of disease activity is associated with improvements in workplace and household productivity in patients with axial spondyloarthritis.

Background: Patients with active axial spondyloarthritis (axSpA) exhibit more absences and lower levels of productivity in the workplace and household than the general population, which can improve upon treatment.

Objectives: The objective of this study is to determine the long-term impact of achieving different levels of clinical response or disease activity on workplace and household productivity in patients with axSpA.

Design: RAPID-axSpA (NCT01087762) was a 204-week phase III trial evaluating the safety and efficacy of certolizumab pegol (CZP) in adult patients with active axSpA.

Impact of Risk Factors on COVID-19 Outcomes in Unvaccinated People With Rheumatic Diseases: A Comparative Analysis of Pandemic Epochs Using the COVID-19 Global Rheumatology Alliance Registry.

Objective: Approximately one third of individuals worldwide have not received a COVID-19 vaccine. Although studies have investigated risk factors linked to severe COVID-19 among unvaccinated people with rheumatic diseases (RDs), we know less about whether these factors changed as the pandemic progressed. We aimed to identify risk factors associated with severe COVID-19 in unvaccinated individuals in different pandemic epochs corresponding to major variants of concern.

Does Lidocaine Shorten Seizure Duration in Electroconvulsive Therapy?

Background: Electroconvulsive therapy (ECT) is an effective short-term treatment for schizophrenia and depression, amongst other disorders. Lidocaine is typically added to reduce pain from intravenous propofol injection. However, depending on the dose used in the ECT setting, it can shorten seizure duration.

'Thrown in at the deep end': a qualitative analysis into the transition from trainee to consultant during the COVID-19 pandemic and lessons for the future.

Background: Sustained crises such as the COVID-19 pandemic would be expected to impact the transition from trainee to consultant for anaesthetists or intensivists, but limited research exists on this important topic. This study aimed to examine the social context of this crucial career transition during the pandemic and post-pandemic periods.

Methods: We conducted semi-structured interviews with anaesthetists and intensivists who became consultants after the first UK lockdown.

Preventing post-contrast acute kidney injury and hypersensitivity reactions: UK national audit.

Aim: To audit UK radiology departmental protocols related to the prevention of Iodine-based contrast media (ICM) adverse drug reactions (ADRs) and to assess their compliance with the Royal College of Radiologists (RCR) endorsed Royal Australian and New Zealand College of Radiologists' 2018 Iodinated Contrast Guidelines.

Materials And Methods: Questionnaires were sent to all UK acute National Health Service (NHS) providers treating adult patients with an audit lead registered with the RCR (162 providers encompassing 211 hospital radiology departments). The questionnaire included three main sections: renal function screening, renal protection regimens, and hypersensitivity reactions prevention and follow-up.

Efficacy of non-pharmacological interventions: a systematic review informing the 2023 EULAR recommendations for the management of fatigue in people with inflammatory rheumatic and musculoskeletal diseases.

Objective: To identify the best evidence on the efficacy of non-pharmacological interventions in reducing fatigue in people with inflammatory rheumatic and musculoskeletal diseases (I-RMDs) and to summarise their safety in the identified studies to inform European Alliance of Associations for Rheumatology recommendations for the management of fatigue in people with I-RMDs.

Methods: Systematic review of randomised controlled trials (RCTs) including adults with I-RMDs conducted according to the Cochrane Handbook. Search strategy ran in Medline, Embase, Cochrane Library, CINAHL Complete, PEDro, OTseeker and PsycINFO.

Comorbidities associated with the severity of COVID-19, and differences across ethnic groups: a UK Biobank cohort study.

Background: Disparities in COVID-19 outcomes exist on the basis of ethnicity and comorbidities. Minority ethnic groups in the UK are known to have poorer COVID-19 outcomes, but also an increased prevelance of certain comorbidities associated with severe outcomes. Additionally, despite the prevalence of certain psychiatric disorders there is a lack of research establishing their relationship with COVID-19 outcomes.

LGI1 Encephalitis and IgG4-Related Disease: Rare Conditions Collide.

Objectives: Leucine-rich glioma-inactivated 1 (LGI1) encephalitis and IgG4-related disease (IgG4RD) have traditionally been regarded as 2 distinct disease entities.

Methods: We detail the presentation, investigations, and management of a patient who showed typical signs and symptoms of LGI1 encephalitis and also found to possess pancreatic changes and a serum profile in keeping with IgG4RD.

Results: Serum and CSF analyses at presentation showed a significant hyponatraemia (117 mmol/L), elevated IgG4 concentration (1.

Patient research priority setting partnership in human T-cell lymphotropic virus type I.

Introduction: Human T-cell lymphotropic virus type 1 (HTLV-1) is a chronic infection affecting 5-10 million people worldwide. Ten percent develop HTLV-1-associated diseases, and 3%-5% develop HTLV-1-associated myelopathy (HAM)/tropical spastic paraparesis. Low health-related quality of life (HRQoL) is a significant concern for those with HTLV-1, and little is known about how it impacts daily life or what patients need from healthcare services.

Knowledge, attitudes, and practices associated with vitamin D supplementation: A cross-sectional online community survey of adults in the UK.

Objective: Assess knowledge, attitudes, and practices (KAPs) of a diverse population. Identify barriers and facilitators that inform routine vitamin D supplementation and self-care in the community setting.

Design: Cross-sectional online voluntary survey.

Uterine artery embolization in Tanzania: a procedure with major public health implications.

Background: The burden of uterine fibroids is substantial in sub-Saharan Africa (SSA), with up to 80% of black women harboring them in their lifetime. While uterine artery embolization (UAE) has emerged as an effective alternative to surgery to manage this condition, the procedure is not available to the vast majority of women living in SSA due to limited access to interventional radiology (IR) in the region. One of the few countries in SSA now offering UAE in a public hospital setting is Tanzania.

Safety and immunogenicity of a variant-adapted SARS-CoV-2 recombinant protein vaccine with AS03 adjuvant as a booster in adults primed with authorized vaccines: a phase 3, parallel-group study.

Background: In a parallel-group, international, phase 3 study (ClinicalTrials.govNCT04762680), we evaluated prototype (D614) and Beta (B.1.

Diagnostic performance of sonographic activity scores for adult terminal ileal Crohn's disease compared to magnetic resonance and histological reference standards: experience from the METRIC trial.

Objectives: The simple ultrasound activity score for Crohn's disease (SUS-CD) and bowel ultrasound score (BUSS) are promising intestinal ultrasound (IUS) indices of CD, but studied mainly in small settings with few sonographers. We compared SUS-CD and BUSS against histological and magnetic resonance enterography (MRE) reference standards in a post hoc analysis of a prospective multicentre, multireader trial.

Methods: Participants recruited to the METRIC trial (ISRCTN03982913) were studied, including those with available terminal ileal (TI) biopsies.

Comparison of diagnoses of early-onset sepsis associated with use of Sepsis Risk Calculator versus NICE CG149: a prospective, population-wide cohort study in London, UK, 2020-2021.

Objective: We sought to compare the incidence of early-onset sepsis (EOS) in infants ≥34 weeks' gestation identified >24 hours after birth, in hospitals using the Kaiser Permanente Sepsis Risk Calculator (SRC) with hospitals using the National Institute for Health and Care Excellence (NICE) guidance.

Design And Setting: Prospective observational population-wide cohort study involving all 26 hospitals with neonatal units colocated with maternity services across London (10 using SRC, 16 using NICE).

Participants: All live births ≥34 weeks' gestation between September 2020 and August 2021.

Investigating the impact of financial concerns on symptoms of depression in UK healthcare workers: data from the UK-REACH nationwide cohort study.

Background: Exploration of the association between financial concerns and depression in UK healthcare workers (HCWs) is paramount given the current 'cost of living crisis', ongoing strike action and recruitment/retention problems in the National Health Service.

Aims: To assess the impact of financial concerns on the risk of depression in HCWs, how these concerns have changed over time and what factors might predict financial concerns.

Method: We used longitudinal survey data from a UK-wide cohort of HCWs to determine whether financial concerns at baseline (December 2020 to March 2021) were associated with depression (measured with the Public Health Questionnaire-2) at follow-up (June to October 2022).

Towards NHS Zero: greener gastroenterology and the impact of virtual clinics on carbon emissions and patient outcomes. A multisite, observational, cross-sectional study.

Objective: The National Health Service (NHS) produces more carbon emissions than any public sector organisation in England. In 2020, it became the first health service worldwide to commit to becoming carbon net zero, the same year as the COVID-19 pandemic forced healthcare systems globally to rapidly adapt service delivery. As part of this, outpatient appointments became largely remote.

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human diseases, including cancers and neurological disorders. We applied a next generation sequencing based assay (EPIC-NGS) to investigate genome-wide methylation profiling for >2 M CpGs for 7 individuals with a neurodevelopmental disorder associated with HNRNPU germline pathogenic loss-of-function variants.

Hernia Active Living Trial (HALT): a feasibility study of a physical activity intervention for people with a bowel stoma who have a parastomal hernia/bulge.

Background: Parastomal bulging/hernia is a common complication associated with a stoma. Strengthening of the abdominal muscles via exercise may be a useful self-management strategy. The aim of this feasibility work was to address uncertainties around testing a Pilates-based exercise intervention for people with parastomal bulging.

Associations between polygenic risk score and covid-19 susceptibility and severity across ethnic groups: UK Biobank analysis.

Background: COVID-19 manifests with huge heterogeneity in susceptibility and severity outcomes. UK Black Asian and Minority Ethnic (BAME) groups have demonstrated disproportionate burdens. Some variability remains unexplained, suggesting potential genetic contribution.

UK recommendations for the management of transgender and gender-diverse patients with inherited cancer risks.

As the rate of people openly identifying as transgender or gender diverse (TGD) is increasing, UK cancer genetics services are seeing growing numbers of TGD patients. Lack of appropriate clinical guidelines and a scarcity of robust data about the impact of gender-affirming treatments on cancer risk has led to uncertainty of how best to support TGD patients, and inequity in standards of care. To address this gap, the UK Cancer Genetics Group and Central & South Genomic Medicine Service Alliance facilitated a 2-day meeting to develop national consensus to support the management of TGD patients with inherited cancer risks.