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Machine learning to predict stroke risk from routine hospital data: A systematic review
No full textPURPOSE: Stroke remains a leading cause of morbidity and mortality. Despite this, current risk stratification tools such as CHA(2)DS(2)-VASc and QRISK3 are of limited accuracy, particularly in those without a diagnosis of atrial-fibrillation. Hence, there is a need for more accurate stroke risk prediction models. Machine-learning (ML) may provide a solution to this by leveraging existing routine hospital databases to build accurate stroke risk prediction models and identify novel risk factors for stroke. AIMS: In this systematic review we appraise current research using ML to predict stroke risk from routine hospital data. Based on these findings we then highlight common methodological limitations and recommendations for future research. METHODS: In this review we identify 49 original research (38 in the general population and 11 in AF specific populations) articles from the PUBMED database from January-2013 to December-2024 using ML and routine hospital data to predict the risk of stroke. RESULTS: ML models were able to accurately predict stroke risk in both AF specific and general populations, with AUCs ranging from 0.64 to 0.99. Where tested, ML also consistently outperformed traditional risk stratification tool, such as CHA(2)DS(2)-VASc. ML also appeared useful in identifying several novel risk factors from electrocardiogram, laboratory test and echocardiography data. However, the quality of datasets were often limited, there was a high suspicion of overfitting and models often lacked calibration, external validation and explainability analysis. CONCLUSION: Whilst ML has shown great potential in stroke prediction and identifying novel risk factors for stroke, improvements in study methodology is required prior to integration of ML into routine healthcare. Future research should adhere to the EQUATOR guidance on prediction models and encourage interdisciplinary collaboration between computer scientists and clinicians. Further prospective RCTs are also required to validate models in the clinical setting and the identify barriers of integrating ML into routine healthcare.This is an open access article distributed under the terms of the Creative Commons CC-BY license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Not hel
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants
No full textConstitutional or germline pathogenic variants (GPVs) in protection of telomeres 1 (POT1) are associated with a variety of tumours resulting in the recognition of POT1-tumour predisposition syndrome (POT1-TPDS). These tumours may include cutaneous melanoma, angiosarcoma, haematological malignancy and brain tumours. Due to the rarity of POT1 GPVs and limited available data, the overall lifetime cancer risks for individuals with POT1-TPDS are unclear. Furthermore, there is scant evidence to support the role of surveillance in early cancer detection in this patient group. A recent international publication suggested a surveillance protocol similar to that used in Li-Fraumeni Syndrome (LFS) could be offered to POT1 pathogenic variant carriers, particularly where there are LFS-like features. However, current evidence for POT1-TPDS is not supportive of an equivalent lifetime cancer risk. Given the inclusion of POT1 in the National Test Directory in England and the need for UK-based guidance, an expert group undertook a literature review to assess the phenotypic spectrum of POT1-TPDS and to provide lifetime risk estimates of POT1-associated cancers. The available evidence was shared with a small working group of experts that included clinical geneticists, dermatologists, sarcoma specialists, haematologists and radiologists to cover all aspects of the cancers most commonly associated with POT1-TPDS. Following structured expert group discussions, we achieved consensus on best practice recommendations for a POT1-TPDS UK management protocol.CC BY 4.0 (Creative Commons Attribution
Safety and efficacy of a novel 'One-Visit, Both-Cataracts' high-volume see-and-treat immediate sequential bilateral cataract surgery service in a public healthcare setting
No full textPURPOSE: To evaluate the safety and efficacy of a novel cataract surgery pathway that combines a See-and-Treat (S&T) model with Immediate Sequential Bilateral Cataract Surgery (ISBCS) at the Nightingale Hospital, Exeter, UK. METHODS: A retrospective observational study was conducted on 102 consecutive patients (204 eyes) who underwent S&T ISBCS between July 2023 and July 2024. Patients were triaged based on referral information and underwent preoperative telephone consultations. On the day of surgery, clinical assessment and bilateral cataract surgery were completed in a single visit. Data collected included patient demographics, intraoperative and postoperative outcomes, and complications. RESULTS: Of the 127 patients listed, 102 (84.3%) completed S&T ISBCS. No intraoperative complications were recorded. Fourteen patients (13.7%) required unplanned postoperative consultations, with most cases being non-sight-threatening and self-resolving. Cystoid macular oedema (CMO) was reported in 2.9% of eyes, with no cases of visual loss or endophthalmitis. CONCLUSION: The S&T ISBCS model demonstrated safety and efficiency in delivering cataract care, with a high one-visit completion rate and low complication rates. This model offers significant time and resource savings whilst maintaining patient safety. It holds potential for broader implementation in healthcare settings facing increased demand for cataract services. Further studies are recommended to assess long-term outcomes and optimise this approach.Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
A modified Delphi consensus statement on the role of biopsy in small renal masses
No full textOBJECTIVE: To understand the variable utilisation of diagnostic biopsy for small renal masses (SRM) across the urology community, we worked with expert clinicians and patients to produce a consensus statement on the role of biopsy and to identify research gaps. METHODS: In phase I, qualitative interviews were performed to identify potential statements on the role of biopsy and research gaps. In phase II, an expert panel including patients scored statements on a 9-point scale through a modified Delphi process involving three rounds of web-based surveys. Consensus was considered to have been reached when 70% of participants scored a statement greater than or equal to seven. Panel members could propose additional statements for consideration after the first round. Following the second round, a moderation meeting was held to discuss statements where threshold of agreement was not met. RESULTS: In total, 35 participants were involved in this project and consisted of 23 clinicians and 12 patients, with 29 participants completing all three rounds. Overall, 18 statements reached consensus, 11 of which pertained to when and how a biopsy should be used in SRM management and 7 research recommendations to improve the evidence base for biopsy use. CONCLUSIONS AND CLINICAL IMPLICATIONS: This Delphi consensus statement, co-produced by patients and clinicians, provides best-practice guidance on the current role of renal tumour biopsy, including offering biopsy prior to active treatment if the outcome would affect management and offering a second attempt should the first biopsy be non-diagnostic. Priority areas for future research included studies to evaluate how a biopsy affects choice of treatment and patient anxiety.CC BY 4.0 Internationa
Practical Approaches to Continuous Glucose Monitoring in Primary Care: A UK-Based Consensus Opinion
No full textINTRODUCTION: Type 2 diabetes (T2D) imposes significant personal challenges and societal costs. Continuous glucose monitoring (CGM) is recognised as a state-of-the-art tool, but remains underutilised. Adoption of CGM in primary care should be informed by a broader understanding of the technology's capabilities and limitations. METHODS: An expert panel was convened to review current literature and clinical experience to provide practical approaches to CGM for primary care practitioners and discuss the technology's value in the routine management of T2D. The goals were to review and reach consensus on the current state of CGM in non-specialist practice settings and on strategies for successfully initiating and maintaining people on CGM. RESULTS: Initiation and maintenance of CGM therapy can be successfully conducted in primary care settings. CGM therapy should include proper patient selection, proper setting of expectations, and evidence-based adjustments to therapy. Most patients are likely to see quick, meaningful, and lasting improvements in their diabetes, along with a better understanding of their condition and greater motivation for successful management. Retrospective report interpretation is feasible and intuitive. Barriers to adoption and sustained use include cost, technological limitations, behavioural or psychological factors, and therapeutic inertia. Addressing these barriers is critical to enable better access to CGM. Continuous glucose monitoring can be leveraged by primary care teams to inform treatment decisions and also by patients to inform diabetes self-management. CONCLUSION: CGM should be considered for all people with T2D. The recommendations provided here should simplify adoption and maintenance use of CGM in primary care and maximise the glycaemic and psychosocial benefits of the technology.Open Access This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text
AI versus the spinal surgeons in the management of controversial spinal surgery scenarios
No full textAIMS: The use of artificial intelligence (AI) in spinal surgery is expanding, yet its ability to match the diagnostic and treatment planning accuracy of human surgeons remains unclear. This study aims to compare the performance of AI models-ChatGPT-3.5, ChatGPT-4, and Google Bard-with that of experienced spinal surgeons in controversial spinal scenarios. METHODS: A questionnaire comprising 54 questions was presented to ten spinal surgeons on two occasions, four weeks apart, to assess consistency. The same questionnaire was also presented to ChatGPT-3.5, ChatGPT-4, and Google Bard, each generating five responses per question. Responses were analyzed for consistency and agreement with human surgeons using Kappa values. Thematic analysis of AI responses identified common themes and evaluated the depth and accuracy of AI recommendations. RESULTS: Test-retest reliability among surgeons showed Kappa values from 0.535 to 1.00, indicating moderate to perfect reliability. Inter-rater agreement between surgeons and AI models was generally low, with nonsignificant p-values. Fair agreements were observed between surgeons' second occasion responses and ChatGPT-3.5 (Kappa = 0.24) and ChatGPT-4 (Kappa = 0.27). AI responses were detailed and structured, while surgeons provided more concise answers. CONCLUSIONS: AI large language models are not yet suitable for complex spinal surgery decisions but hold potential for preliminary information gathering and emergency triage. Legal, ethical, and accuracy issues must be addressed before AI can be reliably integrated into clinical practice.All rights reserve
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
No full textCongenital disorders of glycosylation (CDGs) comprise a large heterogeneous group of metabolic conditions caused by defects in glycoprotein and glycolipid glycan assembly and remodeling, a fundamental molecular process with wide-ranging biological roles. Herein, we describe bi-allelic UGGT1 variants in fifteen individuals from ten unrelated families of various ethnic backgrounds as a cause of a distinctive CDG of variable severity. The cardinal clinical features of UGGT1-CDG involve developmental delay, intellectual disability, seizures, characteristic facial features, and microcephaly in the majority (9/11 affected individuals for whom measurements were available). The more severely affected individuals display congenital heart malformations, variable skeletal abnormalities including scoliosis, and hepatic and renal involvement, including polycystic kidneys mimicking autosomal recessive polycystic kidney disease. Clinical studies defined genotype-phenotype correlations, showing bi-allelic UGGT1 loss-of-function variants associated with increased disease severity, including death in infancy. UGGT1 encodes UDP-glucose:glycoprotein glucosyltransferase 1, an enzyme critical for maintaining quality control of N-linked glycosylation. Molecular studies showed that pathogenic UGGT1 variants impair UGGT1 glucosylation and catalytic activity, disrupt mRNA splicing, or inhibit endoplasmic reticulum (ER) retention. Collectively, our data provide a comprehensive genetic, clinical, and molecular characterization of UGGT1-CDG, broadening the spectrum of N-linked glycosylation disorders.CC BY‑NC‑ND 4.0 (open access
Higher hospital volume reduces early failure rates in single-stage revision TKR for infection: An analysis of the United Kingdom National Joint Registry and National Administrative Databases
No full textPURPOSE: Revision knee replacement (RevKR) for infection is rare but increasing. It is hypothesised that higher hospital volume reduces adverse outcomes. The aim was to estimate the association of surgical unit volume with outcomes following first, single-stage RevKR for infection. METHODS: This population-based cohort study merged data from the United Kingdom National Joint Registry, Hospital Episode Statistics, National Patient Reported Outcome Measures and the Civil Registrations of Death. Patients undergoing procedures between 1 January 2009 and 30 June 2019 were included. Early outcomes were chosen to reflect the quality of the surgical provision and included re-revision at 2 years, mortality, serious medical complications, length of stay and patient-reported outcome measures (PROMs). Adjusted fixed effect multivariable regression models were used to examine the association between surgical unit mean annual caseload and the risk of adverse outcomes. RESULTS: A total of 1477 patients underwent first-time single-stage RevKRs for infection across 267 surgical units and 716 surgeons. Following adjustment for age, gender, American Society of Anaesthesiologists grade, surgeon volume, year of surgery and operation funder and modelling surgical unit volume with restricted cubic spline, a greater mean annual volume was associated with a lower risk of re-revision at 2 years. The odds of re-revision in hospitals performing fewer than or equal to 12 cases per year was 2.53 (95% confidence interval = 1.50-4.31) times more likely than hospitals performing three to four cases per month. Annual variation in surgical unit volume was not associated with mortality and serious medical complications within 90 days. Only 99 out of 1477 (7%) of patients had linked PROMs which precluded subsequent analysis. CONCLUSION: Overall, higher volume surgical units had lower rates of early re-revision following the first RevKR for infection. We were unable to provide recommended specific volume thresholds for units; however, the probability of re-revision appears to be lowest in the highest volume units. LEVEL OF EVIDENCE: Level III, retrospective cohort study of prospectively collected data.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.RDUH staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
A Narrative Review of the Evolving Role of Robotic Surgery in Pediatrics: Innovations and Future Prospects
No full textRobot surgery has significantly improved surgical interventions for pediatric patients by enhancing surgical precision, minimizing complications, and improving overall patient outcomes. Over the past few years, substantial advancements in technology and surgical techniques have facilitated the widespread adoption of robotic systems in pediatric surgical procedures across multiple specialties. These encompass specialties such as pediatric urology, general surgery, thoracic surgery, and oncology, contributing to its adoption and widespread implementation in clinical practice. The integration of robotic platforms has enabled surgeons to perform complex procedures with greater dexterity, improved visualization, and enhanced control. This comprehensive review aims to provide an in-depth analysis of the evolution of robotic surgery, its current applications in pediatric surgery, its advantages over conventional surgical techniques, and the potential limitations and challenges associated with its usage and generalization in clinical practice.CC BY 4.0 (Creative Commons Attribution
Delayed diagnosis of axial spondyloarthritis: the crucial role of primary care - how you can make a difference
No full textThis article is Open Access: CC BY 4.0 licence (http://creativecommons.org/licences/by/4.0/).Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo. Click on the 'Additional link' above to access the full-text