Excisional biopsy of perforated gastric ulcer: mandatory or potentially harmful?

PURPOSE: This study aimed to evaluate the morbidity associated with excisional biopsy in patients with spontaneous gastric perforation. METHODS: A retrospective, single-center, observational study was performed. All consecutive patients with spontaneous gastric perforation who underwent surgical therapy were included. Outcomes were assessed concerning the performance of excisional biopsy. RESULTS: A total of 135 adult patients were enrolled. Of these, 110 (81.5%) patients underwent excisional biopsy, while 17 (12.6%) did not. The remaining eight (5.9%) patients who underwent gastric resection were excluded from the analysis. Patients undergoing excisional biopsy developed significantly higher rates of postoperative complications (p = 0.007) and experienced more severe complications according to the Clavien-Dindo classification, particularly type III and above (p = 0.017). However, no significant differences were observed regarding in-hospital mortality, reoperation, suture dehiscence, or length of hospital stay. CONCLUSION: Excisional biopsy for gastric perforation has been shown to be associated with increased morbidity. Surgical closure followed by early endoscopic biopsy may be a superior approach for gastric perforation management to rule out malignancy.

Broncho biliary fistula following interventional radiology for hepatic metastases.

Bronchobiliary fistulas are defined as an abnormal communication between the biliary system and the bronchial tree. They are extremely rare complications of radiofrequency or microwave ablation. A 39-year-old woman with a history of neuroendocrine pancreatic carcinoma suffering from liver metastasis was treated with microwave ablation (MWA). In this case report, we present a case of intractable biliptysis from a bronchobiliary fistula secondary to an MWA. The patient was diagnosed by endoscopic retrograde cholangiopancreatograph and hepatobiliary scintigraphy. Treatment involved a right hemihepatectomy, a redo-hepaticojejunostomy, and the surgical placement of a transhepatic drain. After 6 weeks of drain placement, this could be removed. The fistula was thus successfully treated.

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.

Background Many rare, potentially pathogenic, RYR2 variants identified in individuals with clinically definite catecholaminergic polymorphic ventricular tachycardia are classified ambiguously as variants of uncertain significance (VUS). We aimed to determine if a phenotype-enhanced variant classification approach could reduce the burden of RYR2 VUS encountered during clinical genetic testing. Methods This retrospective study was conducted in 84 RYR2-positive individuals from the Mayo Clinic (Rochester, MN) and validated in 149 RYR2-positive individuals from Amsterdam University Medical Center (Amsterdam, NL). Using a newly developed diagnostic scorecard, the pretest clinical probability of catecholaminergic polymorphic ventricular tachycardia was determined for all RYR2-positive individuals. Each RYR2 variant was then readjudicated using a phenotype-enhanced American College of Medical Genetics approach that incorporates new criteria that reflect the phenotypic strength associated with each individual RYR2 variant. Results Overall, 72 distinct RYR2 variants were identified among the 84 Mayo Clinic (39 unique) and 149 Amsterdam University Medical Center (30 unique) cases. Three variants were present in both cohorts. American College of Medical Genetics guidelines classified 47% of all RYR2 variants as VUS. In the Mayo Clinic cohort, readjudication using amended phenotype-enhanced American College of Medical Genetics standards dropped the VUS rate significantly (20/42 [48%] versus 3/42 [7%]; P<0.001) with 13/20 (65%) RYR2 VUS promoted to likely pathogenic and 4/20 (20%) demoted to likely benign. A similar drop in VUS rate (14/33 [42%] versus 3/33 [9%]; P=0.001) was observed in the Amsterdam University Medical Center validation cohort with 10/14 (71%) RYR2 VUS promoted to likely pathogenic and 1/14 (7%) demoted to likely benign. Conclusions This multicenter study illustrates the potential utility of phenotype-enhanced variant classification in catecholaminergic polymorphic ventricular tachycardia.

External validation of anastomotic leakage risk analysis system in patients who underwent colorectal resection

Background/aim: One of the most feared complications after colon resection for carcinoma is anastomotic leakage. Prediction of anastomotic leakage can alter pre- and perioperative management of patients. This study validates an anastomotic leakage prediction system. Materials and methods: Ninety-five patients who underwent colonic resection between 1 January 2016 and 30 January 2017 were included in the study. Patient records and electronic charting system data were used to calculate anastomotic leakage risk on the http://www.anastomoticleak.com/ website. Results: Fifty-six (58.9%) patients were male and thirty-nine (41.1%) were female. The mean age was 61.7 (min: 33, max: 90). Six (6.3%) patients had anastomotic leakage. According to the ROC analysis, the area under curve for the prediction system was 0.767. Conclusion: The prediction system for anastomotic leakage produced significant results for our patient population. It can be effectively utilized in preoperative and perioperative measures to prevent anastomotic leakage.