Advancing health and fostering community involvement in medical research through the Genes & Health study.

The Genes & Health study, an initiative focused on British-Pakistani and British-Bangladeshi volunteers, is at the forefront of diversifying genetic research and driving scientific innovation. Here, we explore how this study has propelled scientific advancements and positively impacted communities, emphasizing its collaborative ethos, dedication to societal needs, and accomplishments.

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.

Healthcare utilisation of 282,080 individuals with long COVID over two years: a multiple matched control, longitudinal cohort analysis.

Objectives: To investigate healthcare utilisation and cost in individuals with long COVID (LC) at population level.

Design: Case-control cohort analysis with multiple age-, sex-, ethnicity-, deprivation-, region- and comorbidity-matched control groups: (1) COVID only, no LC; (2) pre-pandemic; (3) contemporary non-COVID; and (4) pre-LC (self-controlled, pre-COVID pandemic).

Setting: National, population-based, linked UK electronic health records (British Heart Foundation/NHS England Secure Data Environment).

A Systematic Review and Meta-analysis on the Safety and Efficacy of Sodium-Glucose Cotransporter 2 Inhibitor Use in Hospitalized Patients.

Background: The safety and efficacy of sodium-glucose cotransporter 2 (SGLT2) inhibitors in hospitalized patients are unclear.

Purpose: To evaluate outcomes of inpatient SGLT2 inhibitor use.

Data Sources: MEDLINE, Embase, Emcare, and Cochrane databases were searched through 29 May 2024.

Comprehensive Analysis of Thyroidectomy-Related Complications: A Single-Center Perspective.

Background Thyroid surgeries have become so common that they are performed for both benign and malignant conditions of the thyroid. However, hypoparathyroidism and recurrent laryngeal nerve (RLN) injury may turn out to be a nightmare, complicating the surgical outcome. This study will, therefore, attempt to assess the complications related to different types of thyroid surgeries in order to identify the risk factors involved.

Delivery of evidence-based critical care practices across the United Kingdom: A UK-wide multi-site service evaluation in adult units.

Background: The ICU Liberation Bundle was developed to improve outcomes for patients admitted to critical care. Despite a lack of Bundle adoption in the UK, the individual evidence-based practices (EBPs) within the bundle are defined as standards of care by the UK Intensive Care Society. There are limited data on the delivery of these EBPs.

Entrectinib-Induced Myocarditis and Acute Heart Failure Responding to Steroid Treatment: A Case Report.

A 72-year-old man presented to his general practitioner with worsening dyspnea and was diagnosed with having recurrent -positive stage IIIB NSCLC 8 years after initial diagnosis and radical treatment for early stage disease. He was subsequently started on entrectinib but required hospital admissions for recurrent acute kidney injuries on a background of chronic kidney disease. His entrectinib was withheld on day 20 since his first dose of treatment while he was being investigated.

Cerebrovascular damage caused by the gut microbe/host co-metabolite -cresol sulfate is prevented by blockade of the EGF receptor.

The gut microbiota-brain axis has been associated with the pathogenesis of numerous disorders, but the mechanism(s) underlying these links are generally poorly understood. Accumulating evidence indicates the involvement of gut microbe-derived metabolites. Circulating levels of the gut microbe/host co-metabolite -cresol sulfate (pCS) correlate with cerebrovascular event risk in individuals with chronic kidney disease (CKD), but whether this relationship is mechanistic is unclear.

Cardiac structural, functional and energetic assessments during and after pregnancy in women with gestational diabetes mellitus, preeclampsia and healthy pregnancy.

Background: GDM and preeclampsia are common complications of pregnancy, for which overweight/obesity is a common risk factor. Both conditions are associated with a two-to-four-fold increase in future incident heart failure, which may be linked to early maladaptive myocardial changes.

Objectives: To determine maternal myocardial structural, functional, and energetic responses to pregnancies complicated by gestational diabetes mellitus (GDM) or preeclampsia compared to healthy pregnancies (HP) at third-trimester of pregnancy and twelve-months postpartum.

Assessing the landscape and charting paths: UK neurology trainees' opinions on neuroinflammation subspecialty.

Therapeutics of neuroinflammatory disorders including multiple sclerosis is one of the fastest growing areas in neurology. However, pressures on higher specialty training in neurology together with an expanding curriculum have led to challenges in adequately preparing trainees for a subspecialist career. In this study we set out to understand current perceptions and barriers to training in neuroinflammatory disorders among neurology trainees in the UK.

Presenting predictions and performance of probabilistic models for clinical decision support in trauma care.

Introduction: Both predictions and performance of clinical predictive models can be presented with various verbal and visual representations. This study aims to investigate how different risk and performance presentations for probabilistic predictions affect clinical users' judgement and preferences.

Methods: We use a clinical Bayesian Network (BN) model that has been developed for predicting the risk of Trauma Induced Coagulopathy (TIC).

Outcomes by Retrospective Eligibility for Maintenance Therapy of Patients With Advanced Urothelial Carcinoma: Post Hoc Analysis of the Phase 3 KEYNOTE-361 Trial.

Introduction: The phase 3 KEYNOTE-361 trial of first-line pembrolizumab with or without chemotherapy versus chemotherapy alone in patients with locally advanced or metastatic urothelial carcinoma (la/mUC) completed enrollment before the approval of postchemotherapy maintenance avelumab for patients without progressive disease. This post hoc analysis evaluated the outcomes of patients who received chemotherapy alone in KEYNOTE-361 by retrospective eligibility for subsequent maintenance therapy.

Patients And Methods: Patients in the chemotherapy alone arm were retrospectively categorized as maintenance eligible (received ≥4 cycles of chemotherapy and did not die or experience disease progression within 10 weeks of chemotherapy completion), maintenance ineligible (received <4 cycles of chemotherapy or had progressive disease or died within 0-10 weeks after completion of ≥4 cycles of chemotherapy), and indeterminate eligibility for maintenance therapy (if neither maintenance eligible or ineligible).

A narrative review of the current available literature on the intersection between the climate crisis and paediatric surgical care.

The climate crisis exacerbates health inequities, including in paediatric surgery, creating a vicious cycle. We sought to review (a) existing evidence on the connection between paediatric surgery and climate and (b) how this addresses the vicious cycle. A PubMed search was conducted on 23-08-2023.

Immunotherapy that improves response to chemotherapy in high-grade serous ovarian cancer.

Single-cell RNA sequencing (scRNAseq) of tumour-infiltrating immune cells in high-grade serous ovarian cancer (HGSOC) omental biopsies reveals potential targets that could enhance response to neo-adjuvant chemotherapy (NACT). Analysis of 64,097 cells identifies NACT-induced overexpression of stabilin-1 (clever-1) on macrophages and FOXP3 in Tregs that is confirmed at the protein level. STAB1 inhibition in vitro induces anti-tumour macrophages.

Retinoblastoma Protein Loss in p53 Abnormal Endometrial Carcinoma: Histologic and Clinicopathological Correlates.

Of the 4 molecular subtypes of endometrial cancer (EC), p53-abnormal (p53abn) EC is associated with abundant copy number alterations and the worst clinical outcome. Patients with p53abn EC have the highest risk of disease recurrence and death, independent of tumor grade and histologic subtype. Currently, all invasive p53abn ECs are considered high risk, and no prognostic biomarkers have yet been found that can aid in clinical management.

Optimising physiotherapist delivery fidelity of exercise and physical activity advice for achilles tendinopathy: A prospective repeated-measures observational study.

Objectives: To assess physiotherapist delivery fidelity and identify factors optimising delivery fidelity of an intervention based on recommended guidelines for Achilles tendinopathy.

Design: A prospective repeated-measures observational study of physiotherapist delivery fidelity with carefully defined exercise and physical activity advice.

Setting: An inter-disciplinary clinic in Melbourne, Australia, embedded in a randomised controlled trial.