Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland.

Background: Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity in management practices has been observed internationally. The International Congenital Adrenal Hyperplasia registry (I-CAH, https://sdmregistries.

AI as a Medical Device for Ophthalmic Imaging in Europe, Australia, and the United States: Protocol for a Systematic Scoping Review of Regulated Devices.

Background: Artificial intelligence as a medical device (AIaMD) has the potential to transform many aspects of ophthalmic care, such as improving accuracy and speed of diagnosis, addressing capacity issues in high-volume areas such as screening, and detecting novel biomarkers of systemic disease in the eye (oculomics). In order to ensure that such tools are safe for the target population and achieve their intended purpose, it is important that these AIaMD have adequate clinical evaluation to support any regulatory decision. Currently, the evidential requirements for regulatory approval are less clear for AIaMD compared to more established interventions such as drugs or medical devices.

'The imitation game': a heart failure case report with a great diagnostic twist.

Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is a hereditary cardiomyopathy that has been associated with mutations in genes encoding for components of the cardiac desmosome including desmoglein-2 (DSG-2).

Case Summary: A 49-year-old male presented with decompensated heart failure and ventricular arrythmias. A cardiac magnetic resonance scan demonstrated a dilated left ventricle (LV) with severely impaired systolic function and extensive subepicardial late gadolinium enhancement in the lateral wall.

DNA damage response defects in hematologic malignancies: mechanistic insights and therapeutic strategies.

The DNA damage response (DDR) encompasses the detection and repair of DNA lesions and is fundamental to the maintenance of genome integrity. Germ line DDR alterations underlie hereditary chromosome instability syndromes by promoting the acquisition of pathogenic structural variants in hematopoietic cells, resulting in increased predisposition to hematologic malignancies. Also frequent in hematologic malignancies are somatic mutations of DDR genes, typically arising from replication stress triggered by oncogene activation or deregulated tumor proliferation that provides a selective pressure for DDR loss.

Circulating cell-free DNA-based biomarkers for prognostication and disease monitoring in adrenocortical carcinoma.

Objective: Adrenocortical carcinoma (ACC) is a rare aggressive cancer with heterogeneous behaviour. Disease surveillance relies on frequent imaging, which comes with significant radiation exposure. The aim of the study was to investigate the role of circulating cell-free DNA (ccfDNA)-related biomarkers (BMs) for prognostication and monitoring of ACC.

Cracking the Whippet: The Inconsistent Treatment of Myeloneuropathy Secondary to Chronic Nitrous Oxide Misuse.

Background The recreational abuse of nitrous oxide (NO) is becoming increasingly prevalent within the United Kingdom and across the globe. Chronic abuse can cause nerve and spinal cord damage through the functional inactivation of vitamin B12. We present six cases from a single centre in the United Kingdom between 2016 and 2020 with neurological complications from NO abuse, ranging from paraesthesia to subacute combined degeneration of the spinal cord.

Brain natriuretic peptide in acute heart failure and its association with glomerular filtration rate: A systematic review and meta-analysis.

Background: Acute heart failure (AHF) is one of the most common cardiovascular diseases. Early diagnosis and prognosis are essential, as they can eventually lead to a fatal condition. Recently, brain natriuretic peptide (BNP) has been recognized as one of the most popular biomarkers for AHF.

Cost-utility analysis of ferric derisomaltose versus ferric carboxymaltose in patients with inflammatory bowel disease and iron deficiency anemia in England.

Aims: Anemia is the most common extraintestinal complication of inflammatory bowel disease (IBD), with approximately half of cases caused by iron deficiency (ID). Intravenous iron is the preferred ID anemia (IDA) treatment where oral iron is contraindicated, ineffective or not tolerated, or where ID correction is urgent. The objective was to evaluate the cost-utility of ferric derisomaltose (FDI) versus ferric carboxymaltose (FCM) in patients with IBD and IDA in England, in whom IV iron treatment is preferred.

Feasibility study of Glucagon-like peptide-1 analogues for the optimization of Outcomes in obese patients undergoing AbLation for Atrial Fibrillation (GOAL-AF) protocol.

Background: Catheter ablation for atrial fibrillation is recommended for symptomatic patients after failed medical therapy. Ablation has a higher failure rate in obese patients, and both the prevalence of atrial fibrillation and obesity are increasingly globally. The outcome of ablation can be improved if obese patients can achieve goal-oriented weight reduction prior to ablation.

A systematic literature review and narrative synthesis on the use of autologous cartilage in the repair of orbital fractures.

Introduction: Fractures of the orbit are common injuries within the maxillofacial skeleton, and can often result in restrictions to ocular movement, diplopia, and enophthalmous if herniation of globe content occurs. Various studies have demonstrated the use of autologous cartilage grafts in the reconstruction of orbital fractures.

Methods: A systematic review protocol was registered with PROSPERO, and reported in accordance with the Preferred Reporting for Items for Systematic Reviews and Meta-Analyses.

Atypia detected during breast screening and subsequent development of cancer: observational analysis of the Sloane atypia prospective cohort in England.

Objective: To explore how the number and type of breast cancers developed after screen detected atypia compare with the anticipated 11.3 cancers detected per 1000 women screened within one three year screening round in the United Kingdom.

Design: Observational analysis of the Sloane atypia prospective cohort in England.

Lateral Compression Manipulation: A Simple Approach for Sizing Taller-Than-Wide Intracranial Aneurysms with the Woven EndoBridge Device.

Background And Purpose: The Woven EndoBridge (WEB) system has established itself as a safe and effective option for managing wide-neck bifurcation aneurysms. Addressing aneurysms with a greater height than width using conventional WEB-sizing methods has proved ineffective due to the inherent configuration of the devices. To overcome this limitation, we propose an intuitive approach that involves swapping the width and height dimensions of the aneurysm to determine the appropriate WEB size.

A Rare Case of Ipsilateral Scrotal Recurrence of Testicular Cancer After Radical Orchidectomy.

A lump in the testicle, painful or painless, could represent testicular cancer. Testicular cancer can be subdivided into germ-cell testicular cancer and sex cord-stromal tumors. A majority of testicular neoplasms are germ cell tumors (GCTs).

Beyond FOXP3: a 20-year journey unravelling human regulatory T-cell heterogeneity.

The initial idea of a distinct group of T-cells responsible for suppressing immune responses was first postulated half a century ago. However, it is only in the last three decades that we have identified what we now term regulatory T-cells (Tregs), and subsequently elucidated and crystallized our understanding of them. Human Tregs have emerged as essential to immune tolerance and the prevention of autoimmune diseases and are typically contemporaneously characterized by their CD3CD4CD25 CD127FOXP3 phenotype.

Gastrointestinal parasite infections in Nepalese Gurkha recruits arriving in the United Kingdom from 2012-2020.

Background: Gastrointestinal parasite (GIP) infections are a major cause of global morbidity, infecting hundreds of millions of people each year and potentially leading to lifelong infection and serious complications. Few data exist on screening for GIP infections in migrants entering the UK or on the current performance of different traditional diagnostic approaches. This study aimed to describe the prevalence of GIP infections in Nepalese Gurkha recruits screened on arrival in the UK.

Evidence-informed recommendations on managing breast screening atypia: perspectives from an expert panel consensus meeting reviewing results from the Sloane atypia project.

Evidence-based clinical guidelines are essential to maximize patient benefit and to reduce clinical uncertainty and inconsistency in clinical practice. Gaps in the evidence base can be addressed by data acquired in routine practice. At present, there is no international consensus on management of women diagnosed with atypical lesions in breast screening programmes.

Educating Future Generations of Surgeons across Borders: Novel Global Linked Hybrid Live Cadaveric Peripheral Nerve Surgical Training Course.

Background: This study aimed to evaluate a novel, multi-site, technology-facilitated education and training course in peripheral nerve surgery. The program was developed to address the training gaps in this specialized field by integrating a structured curriculum, high-fidelity cadaveric dissection, and surgical simulation with real-time expert guidance.

Methods: A collaboration between the Global Nerve Foundation and Esser Masterclass facilitated the program, which was conducted across three international sites.

Safety and efficacy of adjunctive intra-arterial antithrombotic therapy during endovascular thrombectomy for acute ischemic stroke: a systematic review and meta-analysis.

Background: Half of patients who achieve successful recanalization following endovascular thrombectomy (EVT) for acute ischemic stroke experience poor functional outcome. We aim to investigate whether the use of adjunctive intra-arterial antithrombotic therapy (AAT) during EVT is safe and efficacious compared with standard therapy (ST) of EVT with or without prior intravenous thrombolysis.

Methods: Electronic databases were searched (PubMed/MEDLINE, Embase, Cochrane Library) from 2010 until October 2023.