Royal Devon & Exeter NHS Foundation Trust

Reported outcomes for patients following postoperative periprosthetic femoral fractures

Aims: Postoperative periprosthetic femoral fracture (POPFF) is an increasingly common and morbid complication of arthroplasty. This review aims to determine what outcomes are reported for POPFF and how they are measured, to inform the development of a core outcome set. Methods: S...

Glycaemic Management and Pregnancy Outcomes in HNF1A ‐ MODY

ABSTRACT Introduction Birthweight of HNF1A ‐affected offspring is largely similar to the background population with rarely reported cases of large for gestational age (LGA) and neonatal hypoglycaemia (NH). Conventional clinical management of pre‐gestational diabetes appears to be...

Cutaneous Lymphoma International Prognostic Index and Risk Stratification in Advanced Mycosis Fungoides and Sézary Syndrome

Importance Risk stratification in advanced mycosis fungoides and Sézary syndrome (MF/SS) remains suboptimal given that current TNMB (tumor, node, metastasis, blood) staging has limited prognostic value for clinically relevant outcomes. Objective To determine whether the Cutaneous...

Improving patient-reported outcome measure scoring in shoulder trials

Aims Patient-reported outcome measures (PROMs) underpin orthopaedic trials by capturing pain and function from the patient’s perspective. Traditionally, PROMs such as the Oxford Shoulder Score (OSS) are scored using classical test theory (CTT), which assumes equal item contributi...

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening

Abstract Retinoblastoma (Rb) is a rare childhood eye cancer. Almost half of cases are heritable, associated with germline RB1 pathogenic variants that pre-dispose to Rb and extraocular cancers. This study aimed to investigate the prevalence and penetrance of RB1 -heritable Rb in...

Addressing evidence gaps in haemodialysis care: a critical review of clinical trials, technological innovations, and implementation priorities

Kidney failure treated with maintenance haemodialysis (HD) carries high risks of premature mortality, hospitalisation and impaired quality of life, yet important evidence gaps persist across routine HD care. The Dialysis Research Innovation Network, part of the UK Kidney Research...

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Revised ACGS variant classification guidelines 2026.

COFAS Grade is not Associated with Outcomes following Infinity Total Ankle Arthroplasty: A Multicenter Study with Minimum Five-Year Follow-Up

Background: Total ankle arthroplasty (TAA) is increasingly used for end-stage ankle arthritis, with modern fixed-bearing designs demonstrating improved survivorship. The Canadian Orthopaedic Foot and Ankle Society (COFAS) classification stratifies patients by intra-articular and...

Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing

<p dir="ltr">Objective</p><p dir="ltr">To evaluate the clinical utility of incorporating a type 1 diabetes genetic risk score (T1DGRS) into monogenic diabetes gene panel testing for individuals referred with suspected maturity-onset diabetes of the young (MODY)...

Fifteen minute consultation: managing children with HNF1B pathogenic variants

Hepatocyte nuclear factor 1 beta ( HNF1B ) related disease is associated with multisystem involvement, most commonly renal developmental disorders and diabetes alongside a spectrum of other clinical features. With the increasing availability of genomic testing, paediatricians acr...