The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features

Laparoscopic ultrasonography is a complement to cholangiography for the detection of choledocholithiasis at laparoscopic cholecystectomy

Background: Intraoperative cholangiography and laparoscopic ultrasonography are both used in the detection of common bile duct stones at laparoscopic cholecystectomy. The aim of this prospective study was to determine whether laparoscopic ultrasonography has an alternative or a complementary role with respect to cholangiography in achieving this end. Methods: The biliary trees of 900 patients undergoing laparoscopic cholecystectomy were examined routinely by the two methods. The diagnostic power of each investigation and of the two techniques in combination was evaluated. The statistical non‐random concordance between the two methods was also determined. Results: Laparoscopic ultrasonography was performed in all 900 patients. Cholangiography was performed in 762 (85 per cent). The mean (range) duration was 9·8 (4–21) min for laparoscopic ultrasonography and 17·6 (7–42) min for cholangiography. For the detection of common bile duct stones, with a kappa coefficient of 0·57 (95 per cent confidence interval (c.i.) 0·43 to 0·71), the non‐random concordance between the two methods was considered to be fair to good. The sensitivity of laparoscopic ultrasonography was 0·80 (95 per cent c.i. 0·65 to 0·91) and its specificity was 0·99 (95 per cent c.i. 0·98 to 1·00). The respective values for cholangiography were 0·75 (95 per cent c.i. 0·59 to 0·87) and 0·99 (95 per cent c.i. 0·98 to 1·00). The examinations combined had a sensitivity of 0·95 (95 per cent c.i. 0·86 to 0·99) and a specificity of 0·98 (95 per cent c.i. 0·96 to 1·00). Conclusion: Laparoscopic ultrasonography and intraoperative cholangiography are complementary, as the combination of both methods maximizes the intraoperative detection of choledocholithiasis

Behaviour of plasma citrulline after bariatric surgery in the BARIASPERM cohort

International audienc

Prospective, multicentric, comparative study between sleeve gastrectomy and Roux-en-Y gastric bypass, 277 patients, 3 years follow-up

International audienceBackground: Laparoscopic sleeve gastrectomy (LSG) and laparoscopic Roux-en Y gastric bypass (LRYGB) are commonly performed, but few studies have shown superiority of one strategy over the other. Objective: Simultaneously compare LSG and LRYGB in terms of weight loss and morbimortality over a 36-month follow-up period. Setting: University hospital and bariatric surgery centers, France. Methods: Prospective, comparative study between LSG and RYGBP. The primary endpoint of this study was a joint hypothesis during the 36-month follow-up: the first primary outcome pertained to the frequency of patients with an excess weight loss (EWL) greater than 50% (% EWL>50%) after LSG or RYGB; the second primary outcome was defined as a composite endpoint of at least one major complication. Secondary objectives were regression of comorbidities and improvement in quality of life. Results: Two hundred and seventy-seven patients were included (91 RYGBP, 186 LSG). The mean age was 41.1±11.1 years, and average preoperative body mass index of 45.3±5.5kg/m2. After 36months, the %EWL>50% was not inferior in the case of LSG (82.2%) relative to LRYGB (82.1%); while major complications rates were significantly higher in LRYGB (15.4%) vs. LSG (5.4%, P=0.005). After 36months, all secondary objectives were comparable between groups while only gastroesophageal reflux disease (GERD) increased in LSG group and decreased in LRYGB group. Conclusions: LSG was found non-inferior to LRYGB with respect to weight loss and was associated with lower risk of major complications during a 3-year follow-up. But GERD increased in LSG group and decreased in LRYGB group

The Impact of the COVID-19 Pandemic on Bariatric Surgery: Results from a Worldwide Survey

Background: The ongoing “coronavirus disease 19” (COVID-19) pandemic has had a strong effect on the delivery of surgical care worldwide. Elective surgeries have been canceled or delayed in order to reallocate resources to the treatment of COVID-19 patients. Currently, the impact of the COVID-19 pandemic on bariatric and metabolic surgical practice remains unclear. Methods: An internet-based online survey was performed among bariatric surgeons worldwide. The survey was sent to bariatric surgeons via the International Bariatric Club Facebook group and by electronic mail via the International Federation for the Surgery of Obesity and metabolic disorders (IFSO) secretariat to members of the associated national IFSO societies. Results: One hundred sixty-nine (n = 169) bariatric surgeons participated in the survey. The majority of the respondents postponed preoperative upper gastrointestinal tract endoscopies, appointments in the outpatient clinic and bariatric operations. Most surgeons performed video calls for follow-up appointments instead of meeting the patients in the outpatient clinics. Laparoscopy was still the preferred treatment for surgical emergencies, but a trend towards conservative treatment of acute appendicitis and acute cholecystitis was shown. Rapid preoperative COVID-19 testing availability was poor; therefore, routine screening of emergency bariatric cases was not widely provided. A wide variance occurred regarding precautions and personal protection equipment among the participants. Conclusion: The COVID-19 pandemic showed a strong impact on bariatric surgical practice regarding surgical and outpatient planning as well as personnel management. Coordinated effort from the national bariatric societies should focus on strict implementation of the current recommendations regarding precaution measures and personal protection equipment. Further studies should evaluate how this impact will evolve in the near future. © 2020, Springer Science+Business Media, LLC, part of Springer Nature