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Background Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still a substantial number of genetically unsolved cases. The aim of this study was to analyse whole genome sequencing (WGS) data from the FEVR cases in the Genomics England (GEL) 100 000 genomes project to identify the causative variants. Methods WGS was performed by GEL and accessed within the GEL Research Environment. FEVR cases were identified using LabKey and candidate variants were extracted using the ‘gene-variant workflow’ and ‘CNV/SV workflow’ and by using BCFtools in unfiltered VCF files. Results Fifty-nine FEVR probands were submitted to GEL. We found six novel and eight previously reported pathogenic variants in six genes known to underlie FEVR ( TSPAN12, LRP5, FZD4, CTNNB1, KIF11 and NDP ), as well as structural variants in TSPAN12 and KIF11 . These accounted for 15/59 (25.4%) of FEVR cases. We also found candidate heterozygous variants in CTNND1 in three unsolved FEVR cases. Expanding the list of genes examined to include all genes reported to be mutated in ocular disorders likely solved a further four cases, indicating that these individuals may be misclassified as FEVR in GEL. Conclusion By performing bespoke reanalysis of the FEVR GEL cohort, this study has highlighted additional heterozygous variants in CTNND1 in FEVR cases and increased the diagnostic yield from 20% solved by the GEL analysis pipeline to 37% (22/59), but the majority of FEVR cases remain without a molecular diagnosis.
Point‑of‑care ultrasound (POCUS) has become an integral diagnostic tool in emergency medicine, providing rapid bedside imaging that supports timely clinical decision‑making in acutely ill and injured patients. This narrative review examines the diagnostic applications of POCUS in emergency department settings, with emphasis on trauma assessment, lung ultrasound, focused cardiac ultrasound, evaluation of abdominal aortic aneurysm, and early pregnancy complications. The literature review was conducted using PubMed to identify peer‑reviewed studies relevant to diagnostic POCUS use in emergency medicine. The reviewed evidence demonstrates that POCUS improves diagnostic accuracy, accelerates time to critical interventions, and enhances patient triage across a broad range of emergency presentations. Key diagnostic applications include the focused assessment with sonography in trauma (FAST) and extended FAST examinations, evaluation of acute respiratory and cardiac conditions, rapid bedside identification of abdominal aortic aneurysm, and early detection of ectopic pregnancy. In summary, diagnostic POCUS represents a versatile, efficient, and clinically impactful modality that continues to enhance the delivery of emergency care.
BACKGROUND:Aortic arch pathology is traditionally treated via open methods involving arch or hemiarch replacement. Advances in transcatheter endograft technology have provided a minimally invasive alternative in selected cases. CASE SUMMARY:We herein describe the case of a 75-year-old man with an aortic arch aneurysm on the background of a previous coronary artery bypass graft involving a left internal mammary artery-to-left anterior descending artery (LIMA-LAD) graft, who was treated with a Bolton Relay custom scalloped stent graft. DISCUSSION:This case highlights the feasibility of endografts in the setting of a LIMA-LAD graft and the importance of detailed preoperative planning within a multidisciplinary approach. TAKE-HOME MESSAGE:Custom thoracic endovascular aortic repair is a safe alternative to open surgery in the treatment of aortic arch aneurysm in high-risk patients with a LIMA-LAD graft.
Introduction Uncertainty remains regarding whether the time of day that cardiac surgery is performed affects postoperative outcomes or if the observed variation can be explained by patient or surgical factors.Methods A secondary analysis of prospectively collected data was conducted to examine the association between time of cardiac surgery and clinical outcomes. Data were derived from four linked UK datasets: the National Adult Cardiac Surgery Audit; the Case Mix Programme; Hospital Episode Statistics; and Office for National Statistics mortality records. The primary outcomes were hazard of death due to cardiovascular disease and time to hospital readmission for myocardial infarction or acute heart failure. Secondary outcomes included duration of postoperative hospital stay; occurrence of major cardiovascular events; and all-cause mortality.Results Linked data for 24,068 patients were identified. Surgeries performed in late morning (10:00 to 11:59) had the highest mean (SD) predicted risk of death (3.7% (4.6)), compared with 3.2% (3.7) for early morning (07:00 to 09:59), 2.8% (3.4) for early afternoon (12:00 to 13:59) and 3.1% (3.6) for late afternoon (14:00 to 19:59) surgeries, respectively. The primary outcome measures showed an increased hazard of death from cardiovascular disease in the late morning (adjusted hazard ratio 1.18, 95%CI 1.00-1.39), with no difference in hazard of readmission for myocardial infarction or acute heart failure (adjusted hazard ratio 0.97, 95%CI 0.85-1.11). There were no differences in the secondary outcome measures.Discussion Time-of-day variation in postoperative death due to cardiovascular disease following cardiac surgery was observed, with the highest risk seen in late morning procedures. These findings suggest that intra-operative or organisational factors specific to this period may influence outcomes. Future research should explore whether individual circadian phenotypes or chronotypes contribute to this variation, supporting a move towards precision and personalised scheduling of cardiac surgery to optimise patient outcomes.
We read with interest the article published by He et al. and commend the authors for their clear and compelling arguments for establishing collaborative clinics for patients affected by inflammatory bowel disease. We respond to report real-world benefits and challenges of adopting an integrated care approach for patients affected by the broader spectrum of immune-mediated-inflammatory diseases, by sharing our experience from an interdisciplinary dermatology–rheumatology–gastroenterology clinic in a large healthcare trust in Northern Ireland.
