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Perianal Angioleiomyoma: A Case Report and Review of the Literature
No full textAngioleiomyomas are rare benign tumors, which take origin from smooth muscle fibers of the tunica media of veins. Even though angioleiomyomas can appear anywhere in the body, these masses are rarely occurred in the gastrointestinal system. This is the first reported case of perianal angioleiomyomas, where the tumor in close relation with the anal canal was investigated with endoanal ultrasonography. Local excision of such lesion is generally curative.accepted version, submitted versionJournal content freely available via Open Access. Some content may be unavailable due to publisher embarg
Flash glucose monitoring in young people with type 1 diabetes-a qualitative study of young people, parents and health professionals: 'It makes life much easier'
No full textOBJECTIVES: Flash glucose monitoring for patients with T1 diabetes avoids frequent painful finger-prick testing, thus potentially improving frequency of glucose self-monitoring. Our study aimed to explore experiences of young people using Freestyle Libre sensors and their parents, and to identify benefits and challenges to National Health Service (NHS) staff of its adoption in their care provision. PARTICIPANTS: Young people with T1 diabetes, their parents and healthcare professionals were interviewed between February and December 2021. Participants were recruited via social media and through NHS diabetes clinic staff. DESIGN: Semistructured interviews were conducted online and analysed using thematic methods. Staff themes were mapped onto normalisation process theory (NPT) constructs. RESULTS: Thirty-four participants were interviewed: 10 young people, 14 parents and 10 healthcare professionals. Young people reported that life was much easier since changing to flash glucose monitoring, increasing confidence and independence to manage their condition. Parents' quality of life improved and they appreciated access to real-time data. Using the NPT concepts to understand how technology was integrated into routine care proved useful; health professionals were very enthusiastic about flash glucose monitoring and coped with the extra data load to facilitate more tailored patient support within and between clinic visits. CONCLUSION: This technology empowers young people and their parents to understand their diabetes adherence more completely; to feel more confident about adjusting their own care between clinic appointments; and provides an improved interactive experience in clinic. Healthcare teams appear committed to delivering improving technologies, acknowledging the challenge for them to assimilate new information required to provide expert advice.Published version, accepted version, submitted versionThe article is available via Open Access. Click on the 'Additional link' above to access the full-text
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
No full textDiagnosing rare developmental disorders using genome-wide sequencing data commonly necessitates review of multiple plausible candidate variants, often using ontologies of categorical clinical terms. We show that Integrating Multiple Phenotype Resources Optimizes Variant Evaluation in Developmental Disorders (IMPROVE-DD) by incorporating additional classes of data commonly available to clinicians and recorded in health records. In doing so, we quantify the distinct contributions of sex, growth, and development in addition to Human Phenotype Ontology (HPO) terms and demonstrate added value from these readily available information sources. We use likelihood ratios for nominal and quantitative data and propose a classifier for HPO terms in this framework. This Bayesian framework results in more robust diagnoses. Using data systematically collected in the Deciphering Developmental Disorders study, we considered 77 genes with pathogenic/likely pathogenic variants in ≥10 individuals. All genes showed at least a satisfactory prediction by receiver operating characteristic when testing on training data (AUC ≥ 0.6), and HPO terms were the best predictor for the majority of genes, though a minority (13/77) of genes were better predicted by other phenotypic data types. Overall, classifiers based upon multiple integrated phenotypic data sources performed better than those based upon any individual source, and importantly, integrated models produced notably fewer false positives. Finally, we show that IMPROVE-DD models with good predictive performance on cross-validation can be constructed from relatively few individuals. This suggests new strategies for candidate gene prioritization and highlights the value of systematic clinical data collection to support diagnostic programs.UnknownThe article is available via Open Access. Click on the 'Additional link' above to access the full-text
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
No full textPURPOSE: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. METHODS: We identified MCAs in genotyping array data from 12,530 probands in the Deciphering Developmental Disorders study using mosaic chromosome alterations caller (MoChA). RESULTS: We found 61 MCAs in 57 probands, many of these were tissue specific. In 23 of 26 (88.5%) cases for which the MCA was detected in saliva in which blood was also available for analysis, the MCA could not be detected in blood. The MCAs included 20 polysomies, comprising either 1 arm of a chromosome or a whole chromosome, for which we were able to show the timing of the error (25% mitosis, 40% meiosis I, and 35% meiosis II). Only 2 of 57 (3.5%) of the probands in whom we found MCAs had another likely genetic diagnosis identified by exome sequencing, despite an overall diagnostic yield of ∼40% across the cohort. CONCLUSION: Our results show that identification of MCAs provides candidate diagnoses for previously undiagnosed patients with developmental disorders, potentially explaining ∼0.45% of cases in the Deciphering Developmental Disorders study. Nearly 90% of these MCAs would have remained undetected by analyzing DNA from blood and no other tissue.This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).Journal content freely available via Open Access. Some content may be unavailable due to publisher embargo
Newly developed dietary assessment tools for lutein and zeaxanthin are correlated with 24-hour diet recalls, but are not a valid measure of intake in Australian and United Kingdom adults
No full textHabitual dietary intake measurement of carotenoids lutein and zeaxanthin (L/Z) has often been omitted or attempted with tools of unknown validity in past research. It was hypothesized that the dietary assessment tool, the L/Z screener, developed as part of this study, would be valid with agreement within 0.25 mg/day when compared against multiple 24-hour diet recalls in healthy Australian and United Kingdom adults. Two screeners with 91 food items were developed, 1 with a recall timeframe of a month and the other a week. Over 4 weeks, 56 Australian and 47 United Kingdom participants completed 4 weekly screeners, 2 monthly screeners, and eight 24-hour diet recalls. Validity was assessed through Bland-Altman plot analysis. L/Z intake measured by all tools was significantly correlated, with correlation coefficients from 0.58 to 0.83. Despite these correlations, the screeners were not valid, with poor Bland-Altman plot agreement when compared with the diet recalls. The Australian weekly screener performed best, demonstrating a mean difference of 0.51 mg/day and 95% limits of agreement between -1.46 mg/day and 2.49 mg/day of L/Z intake. Baby spinach, broccoli, and pumpkin provided the greatest proportion of L/Z intake. The low validity may be explained by high rates of misestimation or missed capture of moderate to high L/Z containing foods such as baby spinach. Prior research reliant on correlational statistics for L/Z tool validity should be interpreted with caution, and future screener development should prioritize accurate capture of high contribution foods.Published version, accepted version (12 month embargo)Not hel
Defining the Optimal Treatment Strategy in Patients With Uterine Serous Carcinoma
No full textAIMS: Uterine serous carcinoma (USC) is an aggressive subtype of endometrial cancer with high rates of relapse and death. As adjuvant therapy might be beneficial in early-stage disease, the impact of standard complete surgical staging is questioned. Therefore, we wanted to explore the optimal treatment strategy for women diagnosed with USC. MATERIALS AND METHODS: A retrospective multicentre study of women diagnosed with primary USC in the UK and the Netherlands. Treatment strategy in relation to overall survival and progression-free survival was recorded and evaluated with Kaplan-Meier and Cox regression analysis. Furthermore, primary surgical staging and/or adjuvant treatment in relation to patterns of recurrence were evaluated. RESULTS: In total, 272 women with a median age of 70 years were included. Most patients presented with International Federation of Gynecology and Obstetrics (FIGO) stage I disease (44%). Overall, 48% of patients developed recurrent disease, most (58%) with a distant component. Women treated with chemotherapy showed significantly better overall survival (hazard ratio 0.50, 95% confidence interval 0.31-0.81; P = 0.005) and progression-free survival (hazard ratio 0.48, 95% confidence interval 0.28-0.80; P = 0.04) in multivariable analysis. Furthermore, even in surgically staged women with FIGO stage IA disease, a high recurrence rate of 42% was seen. CONCLUSION: Women with USC who received adjuvant chemotherapy showed better survival rates compared with those who received other or no adjuvant treatment. The benefit of adjuvant chemotherapy was observed across all tumour stages, including surgically staged FIGO stage IA. These data question the role of surgical staging in the absence of macroscopic disease in USC.Published version, accepted version (12 month embargo)The article is available via Open Access. Click on the 'Additional link' above to access the full-text
Tips and tricks for adnexal lifting and mobilisation during laparoscopic cystectomy
No full textUnknownThis article is freely available online. Click on the 'Additional Link' above to access the full-text via the publisher's site
Complications of Epicardial Pacing Wire Removal Following Adult Cardiac Surgery: A Systematic Review
No full textPacing wires are commonly used during cardiac surgery to monitor heart rhythm and, if necessary, provide temporary pacing. These wires are usually removed a few days after surgery, but the procedure has been associated with complications. The purpose of this study was to summarize the literature on complications related to pacing wire removal after cardiac surgery. A systematic review was conducted using the PubMed, Embase, and Cochrane Library databases. Articles from January 1, 1998, to December 31, 2022, were considered. The literature was then registered with PROSPERO (registration number: CRD42023418165). PROSPERO is the first database to record systematic reviews in health, and it promotes best practices around the world through broad consultation to eliminate redundancy and waste of time and money. Following that, Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) was used to screen the data. PRISMA consists of a four-stage flow diagram and a checklist" of 27 elements necessary for the rigorous and transparent dissemination of the systematic review's techniques and conclusions. These methods were used to ensure the integrity of the systematic review. The systematic review included six studies with a total of 18,453 patients. The most common pacing wire removal complications were retention of the wire (0.56%), arrhythmia (0.67%), delayed discharge due to delayed wire removal (0.41%), and cardiac tamponade (0.1%). The overall complication rate was 1.74%. A subgroup analysis revealed that earlier removal (within 48-72 hours of surgery) was associated with a higher incidence of bleeding, whereas later removal (after 72 hours) was associated with a higher incidence of delayed discharge. Pacing wire removal following cardiac surgery is associated with many complications, including retention of wire, arrhythmia, delayed discharge, tamponade, and death. These complications are more likely to occur with earlier or later removal of the pacing wires. Although the complication rate was lower, clinicians should be aware of these risks and take appropriate precautions when scheduling pacing wire removal. More research is needed to determine the necessity of pacing wires in cardiac surgery."UnknownRD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
Adherence to Post-polypectomy Surveillance Guidelines at a Large District General Hospital
No full textIntroduction In 2020, the British Society of Gastroenterologists (BSG), the Association of Coloproctology of Great Britain and Ireland (ACPGBI), and Public Health England (PHE) published joint guidelines regarding post-polypectomy surveillance. This study aimed to establish clinician adherence at the Royal Devon University Healthcare NHS Foundation Trust to the 2020 guidelines compared to the now-retired 2010 guidelines. Materials and Methods Data on 152 patients treated under the 2010 guidelines and 133 patients treated under the 2020 guidelines were collected retrospectively from the hospital's colonoscopy database. Data were analysed to determine whether patients who had a colonoscopy fulfilled BSG/ACPGBI/PHE guidelines for follow-up. Costs were estimated using the price of colonoscopy in the NHS National Schedule. Results Approximately 41.4% (63/152) of patients were adherent to the 2010 guidelines while 66.2% (88/133) of patients were adherent to the 2020 guidelines. The difference in adherence rate was 24.7% (95% confidence interval 13.5% - 35.9%, p<0.0001). Nearly 37% (35/95) of patients who would have been followed up under the 2010 guidelines did not receive any follow-up as a result of the 2020 guidelines. This represents a cost saving of £36,892.28 per year in our hospital. Approximately 47% (28/60) of patients treated under the 2020 guidelines had surveillance colonoscopy planned when the guidelines recommended no follow-up. If every clinician were fully adherent to the 2020 guidelines, then a further £29,513.82 per year would have been saved. Discussion and Conclusion Following the introduction of the 2020 guidelines, adherence to polyp surveillance guidelines increased in our hospital. However, nearly half of the colonoscopies were performed unnecessarily due to non-adherence. Furthermore, our results demonstrate that the 2020 guidelines have decreased the need for follow-up.UnknownRD&E staff can access the full-text of this article by clicking on the 'Additional Link' above and logging in with NHS OpenAthens if prompted
High wavenumber Raman spectroscopy for intraoperative assessment of breast tumour margins
No full textOptimal oncological results and patient outcomes are achieved in surgery for early breast cancer with breast conserving surgery (BCS) where this is appropriate. A limitation of BCS occurs when cancer is present at, or close, to the resection margin - termed a 'positive' margin - and re-excision is recommended to reduce recurrence rate. This is occurs in 17% of BCS in the UK and there is therefore a critical need for a way to assess margin status intraoperatively to ensure complete excision with adequate margins at the first operation. This study presents the potential of high wavenumber (HWN) Raman spectroscopy to address this. Freshly excised specimens from thirty patients undergoing surgery for breast cancer were measured using a surface Raman probe, and a multivariate classification model to predict normal versus tumour was developed from the data. This model achieved 77.1% sensitivity and 90.8% specificity following leave one patient out cross validation, with the defining features being differences in water content and lipid versus protein content. This demonstrates the feasibility of HWN Raman spectroscopy to facilitate future intraoperative margin assessment at specific locations. Clinical utility of the approach will require further research.unknownNot hel