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Higher surgeon volume reduces early failure in first time revision of non-infected total knee arthroplasty: An analysis using data from the United Kingdom National Joint Registry
No full textPURPOSE: Revision total knee replacement (RevKR) is an increasingly common procedure. It is hypothesised that higher surgical volume is linked to lower levels of adverse outcomes. The aim was to estimate the association of surgical volume on patient outcomes following first single-stage RevKR for non-infected indications. METHODS: This population-based cohort study used data from the United Kingdom National Joint Registry, Hospital Episode Statistics and National Patient Reported Outcome Measures. Patients undergoing procedures between 1 January 2009 and 30 June 2019 were included. The primary outcome measure was re-revision within 2 years; chosen to reflect the quality of the surgical provision. Fixed effect multivariable regression models were used to examine the association between surgeon and surgical unit annual caseload and the risk of adverse outcomes. RESULTS: A total of 8695 patients underwent first time single stage revision for aseptic loosening, instability, or malalignment across 389 surgical units and 1204 surgeons. Following adjustment for age, gender, ASA grade, year of surgery and operation funder, higher surgeon volume was associated with a lower risk of re-revision at 2 years. The risk of re-revision decreased amongst surgeons performing ≥9 annual revisions (OR 0.77, 95% CI 0.62-0.95, p-value = 0.02) compared to those performing <9 annual revisions. CONCLUSIONS: Annual surgeon case volume of ≥9 first single-stage RevKR for non-infected indications is independently associated with reductions in early re-revision. This evidence supports the setting of minimum volume targets to improve outcomes for patients. LEVEL OF EVIDENCE: Level III, retrospective cohort study of prospectively collected data.CC BY 4.0 (Creative Commons Attribution
A face-to-face survey on the practice of ophthalmic clinicians in the management of dry eye disease in patients undergoing cataract surgery
No full textINTRODUCTION: Dry eye disease (DED) can impact the accuracy of biometry measurements prior to cataract surgery (CS), influence visual performance post-CS, and can be exacerbated by CS. We performed a survey to evaluate the DED practice of clinicians directly caring for CS patients. DESIGN: Prospective face-to-face survey. METHOD: Face-to-face survey consisting of 12 questions relating to CS clinicians' estimations of DED pre- and post-CS, dry eye tests performed, and the management of DED. RESULT: There were one hundred and twenty-seven responders (39% consultants, 37% trainees/fellows, 8% associate specialists, 6% specialty doctors, 8% optometrists, 2% nurse specialists), with a 100% response rate. Sixty-seven percent routinely assessed for DED pre-CS, with 81% anticipating mild to moderative negative effects of CS on DED. Approximately 75% estimated that over 10% of pre-operative patients had asymptomatic DED, with another 10% or more suffering symptomatic DED. Almost 80% estimated that 10% or more of patients suffered DED post-CS. More DED tests were performed pre- compared to post-operatively (p = 0.02). More consultants performed dry eye tests post-operatively compared to non-consultants (p = 0.02). Most common treatment options included lubricating drops (95%), lid hygiene (75%) and night ointment/gels (54%). Seventy-six percent of surgeons performing CS stated they coated the ocular surface with an ophthalmic visco-surgical device and 34% limited intra-operative light exposure peri-operatively to limit DED. DISCUSSION: Despite the anticipated negative effects of CS on DED, 1 in 3 clinicians in our survey were not assessing routinely for DED prior to CS, and fewer dry eye tests were performed post-operatively compared to pre-surgery.This article is distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).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
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
No full textPURPOSE: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. METHODS: We collected patients with duplications encompassing ARID1A and ARID1B duplications. RESULTS: 16 ARID1A and 13 ARID1B duplication cases were included with duplication sizes ranging from 0.1 to 1.2 Mb (1-44 genes) for ARID1A and 0.9 to 10.3 Mb (2-101 genes) for ARID1B. Both groups shared features, with ARID1A patients having more severe intellectual disability, growth delay, and congenital anomalies. DNA methylation analysis showed that ARID1A patients had a specific methylation pattern in blood, which differed from controls and from patients with ARID1A or ARID1B loss-of-function variants. ARID1B patients appeared to have a distinct methylation pattern, similar to ARID1A duplication patients, but further research is needed to validate these results. Five cases with duplications including ARID1A or ARID1B initially annotated as duplications of uncertain significance were evaluated using PhenoScore and DNA methylation reanalysis, resulting in the reclassification of 2 ARID1A and 2 ARID1B duplications as pathogenic. CONCLUSION: Our findings reveal that ARID1B duplications manifest a clinical phenotype, and ARID1A duplications have a distinct episignature that overlaps with that of ARID1B duplications, providing further evidence for a distinct and emerging BAFopathy caused by whole-gene duplication rather than haploinsufficiency.This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).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
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
No full textINTRODUCTION: Congenital hyperinsulinism (HI) is characterized by inappropriate insulin secretion from the pancreatic beta-cells which causes severe hypoglycemia. Copy number variants (CNVs) encompassing multiple genes (contiguous gene CNVs) can cause syndromic forms of HI although they are not typically screened for during routine genetic testing for this condition. We aimed to assess the prevalence of disease-causing contiguous gene CNVs in a cohort of individuals referred for HI genetic testing. METHODS: Our cohort consisted of 3,763 individuals, of which 1,916 had received a genetic diagnosis for their HI and 1,847 were genetically unsolved following routine testing. We screened for 6 different contiguous gene CNVs using next-generation sequencing data from all individuals in the genetically unsolved cohort and searched for patients in our solved cohort who had already been found to have one of these CNVs. RESULTS: We identified a contiguous gene CNV affecting 5 of the 6 genomic loci in 53 probands; 28 from the solved cohort and 25 from the genetically unsolved cohort. Variants on the X chromosome were most common, being detected in 24/53 children. Overall, these variants represented 2.7% (53/1,941) of genetic diagnoses, which is similar to the prevalence of variants in other commonly screened HI genes. DISCUSSION: These results confirm that contiguous gene CNVs are an important cause of HI which should be included in standard gene panel testing processes as this will improve pick-up rates for genetic diagnoses in HI.This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.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
Widening Patient Engagement for Rare Disease Drug Trials: The Perspectives of Patients With Idiopathic Pulmonary Fibrosis on Participating in Clinical Drug Trials and Drug Trial Design
No full textBACKGROUND: Research about patient engagement for people with rare diseases has identified how the experiences of some members of the public are overlooked in relation to clinical trial design and trial participation. As part of a knowledge transfer partnership (KTP), the authors were granted access to patient insight reports about the needs of people with idiopathic pulmonary fibrosis (IPF), to inform clinical trial design and marketing strategy. These were contrasted with data from qualitative interviews, informed by and collected from people with IPF and the clinical staff who recruit them to trials. OBJECTIVE: To identify patient and professional perspectives for IPF drug trials to create opportunities for innovation in patient engagement. DESIGN: Ethnography. Qualitative researcher embedded in a pharmaceutical organisation. SETTING AND PARTICIPANTS: International patient insight reports to inform a clinical trial protocol (n = 1) and marketing strategy (n = 6), including the experiences of over 100 patients with IPF. In the United Kingdom, interviews with patients with IPF (n = 32) and the staff who support them clinically and recruit them to trials of new medicines (n = 19) at one specialist interstitial lung disease (ILD) centre. RESULTS: Methodological practices inherent in inpatient insight reports ensured the perspectives of some people with IPF were overlooked. Interviews with a more marginalised population of people with IPF, and the staff who support them, identified that some found trial information confusing, trial practices frustrating and the opportunities to engage in trial design absent. DISCUSSION: Current pharmaceutical practices of working with contract research organisations and patient organisations exclude the perspectives of patients with IPF who do not engage with either. Trial recruitment information needs to be tailored to the needs of individuals, and trial processes need to enable a wider group of patients to participate. CONCLUSIONS: People with IPF want the opportunity to participate in drug trials and trial science. However, methodological rigour and deliberative practices are required to enable a wider group of patients to have a stake in the design and conduct of drug trials for rare diseases. The challenge now is for regulators to mandate such inclusive practices and for pharmaceutical organisations to adopt them. PATIENT OR PUBLIC CONTRIBUTION: A Patient Advisory Group (PAG) comprising six people with IPF gave input on the research protocol and then on the scope and content of the ongoing research. Two patients from international patient organisations served as a Steering Group (SG). Members of these groups provided their interpretations of the study findings and gave insight on their experiences in clinical design and participation.CC BY 4.0 (Creative Commons Attribution
Widening access to recombinant zoster vaccination in IBD
No full textJournal 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
Long-term outcomes of Grammont style reverse shoulder arthroplasty at a minimum of 10-year follow-up: A survival analysis
No full textBACKGROUND: Reverse shoulder arthroplasty (RSA) is an established and successful treatment for rotator cuff tear arthropathy. Despite increased popularity, there is a paucity of long-term survivorship data and patient-reported outcome measures. This study aimed to establish the survival at a minimum 10-year follow-up for a Grammont-style reverse shoulder prosthesis. METHODS: A single centre, retrospective case series of 101 primary RSAs in 86 patients, performed between 1999 and 2012 was conducted. The primary outcome measure was all-cause revision. Implant survivorship analysis using the Kaplan-Meier method was conducted. Deaths were censored. Secondary outcomes included up-to-date Oxford Shoulder Score (OSS) in surviving patients, historic OSS scores over time and radiological outcomes. RESULTS: Mean age was 76 years (SD ± 7.29) at time of surgery. The 10-year implant survival was 93.2% (95% confidence interval [CI] 87.8-98.6). The mean OSS was 33 (range 17-48, 95% CI 29.1-36.9) with a minimum of 10-year follow-up (n = 21). Radiographic review showed scapular notching in 79% of implants over 10 years old, but no radiolucency around humeral implants. CONCLUSIONS: The rate of RSA survivorship is high at 93.2% at 10 years. Most patients died with their primary implant in-situ. Functional outcome scores were less predictable over time.All rights reserve
HLA haplotype diversity, islet autoantibody status and discriminative ability of type 1 diabetes genetic risk score in Indians
No full textAIMS: We have reported that a 9SNPs type 1 diabetes (T1D) Genetic Risk Score (GRS) developed from European data had a lower power in Indians to distinguish T1D from type 2 diabetes (T2D). We explore the performance of an improved (67SNPs) T1DGRS and also the potential reasons for lower discriminative ability to classify types of diabetes in Indians. METHODS: We studied the discriminative ability of a 67SNPs European T1DGRS in 611 clinically diagnosed T1D and 1153 T2D patients, and 321 non-diabetic controls, using receiver operating characteristic (ROC) area under the curve (AUC). We also compared the frequency and effect sizes of HLA risk haplotypes between Indians and Europeans. RESULTS: The T1DGRS was discriminative of T1D from T2D and controls. However, the ability is lower in Indians than Europeans (AUC, Europeans 0.92, Indians all T1D 0.83, AA-positive 0.86). The T1DGRS was higher in AA-positive than in AA-negative persons [13.01 (12.79-13.23) vs. 12.09 (11.64-12.56)], p < 0.0001. The association of common HLA-DQA1 ~ HLA-DQB1 haplotypes was broadly similar; however, important differences were noted in the frequency, direction and magnitude of effect for some haplotypes between Indians and Europeans. CONCLUSIONS: We confirm broad applicability of European 67SNPs T1DGRS to Indian T1D persons. However, differences in HLA allele frequencies, magnitude and directional differences reduced the predictive value. Our results stress the need to generate ancestry-specific GRS, which we plan to do in the near future.Free-to-read under journal access policy (no CC licence
High patient acceptance of immediately sequential bilateral cataract surgery (ISBCS) as part of a one-stop see-and-treat pathway within an innovative NHS cataract unit
No full textBACKGROUND: Constituting ~0.5% of all NHS cataract operations, national provision of immediately sequential bilateral cataract surgery (ISBCS) is limited. Combining offering ISBCS within a novel one-stop see-and-treat (S&T) cataract pathway would offer patients the opportunity for two cataract operations in a single hospital visit. Patient acceptance of ISBCS amongst urban populations has been investigated. However, little is understood about ISBCS acceptance rurally. METHODS: Retrospective observational study at the Nightingale Hospital, Exeter investigating patient acceptance of ISBCS within S&T; following the implementation of a S&T cataract pathway entailing a pre-operative patient-clinician telephone consultation and subsequently scheduled single date of assessment and surgery. Patient acceptance and factors potentially influencing decisions were investigated. RESULTS: 200 patient telephone consultations between 22nd August 2023 and 9th January 2024 were evaluated. 198 (99%) patients referred were suitable for S&T cataract surgery, of whom 109 (54.5%) were deemed eligible for offering ISBCS S&T cataract surgery. Of the eligible participants, 78 (71.56%) favoured ISBCS. No significant differences in age, sex, distance from hospital or refractive data were identified between ISBCS accepting and declining participants. CONCLUSIONS: Our results illustrate a high patient acceptance rate (71.56%) of ISBCS within our population in contrast with published national rates. Offering ISBCS within a S&T model would allow patients to benefit from having both cataracts assessed and treated within a single hospital visit.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.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
Assessing chatbots ability to produce leaflets on cataract surgery: Bing AI, chatGPT 3.5, chatGPT 4o, ChatSonic, Google Bard, Perplexity and Pi
No full textPURPOSE: This study aimed to evaluate leaflets on cataract surgery produced by seven common free chatbots. SETTING: Usage of conversational artificial intelligence services (chatbots) is becoming more prevalent in all aspects of life, including healthcare. Cataract surgery is the most commonly performed operation in the world, with numbers set to increase. Possible applications for chatbots include information giving and education, allowing clinicians to allocate their time more efficiently. DESIGN: Analysis of answers given by seven chatbots (Bing AI, chatGPT 3.5, chatGPT 4o, ChatSonic, Google Bard, Perplexity and Pi) were prompted to make a patient information leaflet on cataract surgery". METHODS: Answers were evaluated using the DISCERN instrument, Patient Education Materials Assessment Tool (PEMAT), presence of misinformation, the Flesch-Kincaid Grade Level readability score and material reliability. RESULTS: The highest overall scored response was from ChatSonic, followed by Bing AI and then Perplexity. The lowest scoring was ChatGPT 3.5.ChatSonic achieved the highest DISCERN and PEMAT scores, and had the highest Flesch-Kincaid Grade level. The lowest DISCERN and PEMAT scores were for Pi. Only ChatGPT 3.5 included some misinformation in its response. Bing AI, ChatSonic and Perplexity included reliable references; the other chatbots provided no references. CONCLUSIONS: This study demonstrates a range of answers given by chatbots creating a cataract surgery leaflet, suggesting variation in their development and reliability. ChatGPT 3.5 scored the most poorly. However, ChatSonic indicated promise in how technology may be used to assist information giving in ophthalmology."Not hel