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Abstract Background We investigated the role of infection with genital and cutaneous human papillomavirus types (HPV) in the aetiology of ocular surface squamous neoplasia (which includes both conjunctival intraepithelial neoplasia (CIN) and carcinoma) using data and biological material collected as part of a case-control study in Uganda. Results Among 81 cases, the prevalence of genital and cutaneous HPV types in tumour tissue did not differ significantly by histological grade of the lesion. The prevalence of genital HPV types did not differ significantly between cases and controls (both 38%; Odds ratio [OR] 1.0, 95% confidence interval [CI] 0.4–2.7, p = 1.0). The prevalence of cutaneous HPV types was 22% (18/81) among cases and 3% (1/29) among controls (OR 8.0, 95% CI 1.0–169, p = 0.04). Conclusion We find no evidence of an association between genital HPV types and ocular surface squamous neoplasia. The prevalence of cutaneous HPV was significantly higher among cases as compared to controls. Although consistent with results from two other case-control studies, the relatively low prevalence of cutaneous HPV types among cases (which does not differ by histological grade of tumour) indicates that there remains considerable uncertainty about a role for cutaneous HPV in the aetiology of this tumour.

Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands in whom de novo heterozygous missense variants in the planar cell polarity gene CELSR1 were detected using exome sequencing. Using several in vitro assays, we show that the CELSR1 p.(Cys1318Tyr) variant disrupted the subcellular localisation, affected cell-cell junction, impaired planar cell polarity signalling and lowered proliferation rate. These observations suggest that deleterious rare CELSR1 variants could be a possible cause of fetal hydrops., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Aim: To evaluate the use of a single-lead electrocardiography (1L-ECG) device and digital cardiologist consultation platform in diagnosing arrhythmias among general practitioners (GPs)., Background: Handheld 1L-ECG offers a user-friendly alternative to conventional 12-lead ECG in primary care. While GPs can safely rule out arrhythmias on 1L-ECG recordings, expert consultation is required to confirm suspected arrhythmias. Little is known about GPs' experiences with both a 1L-ECG device and digital consultation platform for daily practice., Methods: We used two distinct methods in this study. First, in an observational study, we collected and described all cases shared by GPs within a digital cardiologist consultation platform initiated by a local GP cooperative. This GP cooperative distributed KardiaMobile 1L-ECG devices among all affiliated GPs ( n = 203) and invited them to this consultation platform. In the second part, we used an online questionnaire to evaluate the experiences of these GPs using the KardiaMobile and consultation platform., Findings: In total, 98 (48%) GPs participated in this project, of whom 48 (49%) shared 156 cases. The expert panel was able to provide a definitive rhythm interpretation in 130 (83.3%) shared cases and answered in a median of 4 min (IQR: 2-18). GPs responding to the questionnaire ( n = 43; 44%) thought the KardiaMobile was of added value for rhythm diagnostics in primary care ( n = 42; 98%) and easy to use ( n = 41; 95%). Most GPs ( n = 36; 84%) valued the feedback from the cardiologists in the consultation platform. GPs experienced this project to have a positive impact on both the quality of care and diagnostic efficiency for patients with (suspected) cardiac arrhythmias. Although we lack a comprehensive picture of experienced impediments by GPs, solving technical issues was mentioned to be helpful for further implementation. More research is needed to explore reasons of GPs not motivated using these tools and to assess real-life clinical impact.

Prenatal exome sequencing (pES) is a promising tool for diagnosing genetic disorders when structural anomalies are detected on prenatal ultrasound. The aim of this study was to investigate the diagnostic yield and clinical impact of pES as an additional modality for fetal neurologists who counsel parents in case of congenital anomalies of the central nervous system (CNS). We assessed 20 pregnancies of 19 couples who were consecutively referred to the fetal neurologist for CNS anomalies. pES had a diagnostic yield of 53% (10/19) with most diagnosed pregnancies having agenesis or hypoplasia of the corpus callosum (7/10). Overall clinical impact was 63% (12/19), of which the pES result aided parental decision making in 55% of cases (6/11), guided perinatal management in 75% of cases (3/4), and was helpful in approving a late termination of pregnancy request in 75% of cases (3/4). Our data suggest that pES had a high diagnostic yield when CNS anomalies are present, although this study is limited by its small sample size. Moreover, pES had substantial clinical impact, which warrants implementation of pES in the routine care of the fetal neurologist in close collaboration with gynecologists and clinical geneticists., (© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Purpose: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care., Methods: We retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound., Results: In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre- or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20)., Conclusion: We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.

Background: Abdominoperineal resection is associated with a high incidence of perineal complications, and whether this is reduced by an omentoplasty is still unclear., Objective: This study aimed to investigate the impact of omentoplasty on pelviperineal morbidity in patients undergoing abdominoperineal resection for rectal cancer., Design: This was a retrospective comparative cohort study using propensity score analyses to reduce potential confounding., Setting: The study was undertaken in 2 teaching hospitals and 1 university hospital., Patients: Patients who underwent abdominoperineal resection for primary rectal cancer between 2000 and 2017 were included., Main Outcome Measures: The main end points were primary perineal wound healing at 30 days and overall and specific pelviperineal morbidity until the end of the study period., Results: Among 254 included patients, 106 had an omentoplasty. The primary perineal wound healing rate at 30 days was similar for omentoplasty and no omentoplasty (65% vs 60%; p = 0.422), also after adjusting for potential confounding by propensity score analysis (OR, 0.89; 95% CI, 0.45-1.75). Being free from any pelviperineal complication at 6 months (75% vs 79%; p = 0.492), absence of any pelviperineal morbidity until 1 year (54% vs 49%; p = 0.484), and incidence of persistent perineal sinus (6% vs 10%; p = 0.256) were also similar in both groups. The unadjusted higher perineal hernia rate after omentoplasty (18% vs 7%; p = 0.011) did not remain statistically significant after regression analysis including the propensity score (OR, 1.34; 95% CI, 0.46-3.88). Complications related to the omentoplasty itself were observed in 8 patients, of whom 6 required reoperation., Limitations: This study was limited by the retrospective and nonrandomized design causing some heterogeneity between the 2 cohorts., Conclusion: In this multicenter study using propensity score analyses, the use of omentoplasty did not lower the incidence or the duration of pelviperineal morbidity in patients undergoing abdominoperineal resection for rectal cancer, and omentoplasty itself was associated with a risk of reoperation. See Video Abstract at http://links.lww.com/DCR/A918.

Background: Appendectomy decreases the risk of developing ulcerative colitis [UC], and is suggested to have a beneficial effect on the clinical course of established UC. However, recent studies showed no significantly decreased colectomy rate, and moreover an apparently increased risk of colorectal cancer [CRC]. We aimed to investigate the suggested correlation in a meta-analysis and to analyse possible confounding factors., Methods: A systematic review and meta-analysis were performed using MEDLINE, EMBASE, and the Cochrane Library. Data from studies describing the influence of appendectomy on colectomy and CRC were extracted from published reports. Exclusion criteria were patients aged <18 years, non-UC, and animal studies., Results: From 891 studies, 13 studies evaluating 73323 UC patients [appendectomy n = 2859] were included. All studies, except one, were rated as poor quality. Overall, colectomy rate in appendectomised and non-appendectomised patients was not significantly different (odds ratio [OR] 1.25, 95% confidence interval [CI] 0.88-1.77, I2 = 53%). The proportion of colectomies undertaken for CRC or high-grade dysplasia [HGD] was significantly higher after appendectomy [OR 2.85, 95% CI 1.40-5.78, I2 = 32%], with 50% of the colectomies indicated for CRC/HGD compared with 9.4% in non-appendectomised patients. Possible additional confounding factors were a longer UC disease duration, less medication use, and a higher prevalence of primary sclerosing cholangitis [PSC] in appendectomised patients., Conclusions: Appendectomy in established UC is associated with apparently higher rates of subsequent CRC/HGD, but this appears to be due to inequalities in at-risk exposure between groups, presumably secondary to positive clinical effects of appendectomy on disease symptoms. This finding emphasises the importance of regular endoscopic surveillance in this patient group., (Copyright © 2018 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

The effects of the timing of insemination relative to ovulation on fertilization rate, accessory sperm count and early embryo development were studied in sows. Oestrus detection was performed at intervals of 8 h. Sows were artificially inseminated once with 3 x 10(9) spermatozoa. Transrectal ultrasonography was performed at intervals of 4 h to determine when ovulation occurred and sows were killed at 120 +/- 6 h after ovulation. For each insemination-ovulation interval of 8 h, fertilization rates were as follows: > 48 h, 35% (n = 1); 48-40 h, 51 +/- 36% (n = 6); 40-32 h, 54 +/- 36% (n = 14); 32-24 h, 79 +/- 32% (n = 19); 24-16 h, 94 +/- 11% (n = 24); 16-8 h, 92 +/- 21% (n = 24); 8-0 h, 95 +/- 22% (n = 21) and for the sows that were inseminated after ovulation: 0 to -8 h, 75 +/- 38% (n = 26); -8 to -16 h, 74 +/- 43% (n = 15) and < -16 h, 0% (n = 1). The median accessory sperm count differed among the groups from 1 (insemination 40-48 h before ovulation) to 126 (insemination 0-8 h after ovulation) (P = 0.0001). Within each 8 h time interval, the normal embryos from sows with less than 90% normal embryos were less developed and had a lower sperm count than did the normal embryos from sows with more than 90% normal embryos (P < 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)