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Abstract Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.

ABSTRACT BACKGROUND: The high morbidity and mortality rates of pancreaticoduodenectomy are mainly associated with pancreaticojejunal anastomosis, the most fragile and susceptible to complications such as clinically relevant postoperative pancreatic fistula. AIMS: The alternative fistula risk score and the first postoperative day drain fluid amylase are predictors of the occurrence of clinically relevant postoperative pancreatic fistula. No consensus has been reached on which of the scores is a better predictor; moreover, their combined predictive power remains unclear. To the best of our knowledge, this association had not yet been studied. METHODS: This study assessed the predictive effect of alternative fistula risk score and/or drain fluid amylase on clinically relevant postoperative pancreatic fistula in a retrospective cohort of 58 patients following pancreaticoduodenectomy. The Shapiro-Wilk and Mann-Whitney tests were applied for assessing the distribution of the samples and for comparing the medians, respectively. The receiver operating characteristics curve and the confusion matrix were used to analyze the predictive models. RESULTS: The alternative fistula risk score values were not statistically different between patients in the clinically relevant postoperative pancreatic fistula and non- clinically relevant postoperative pancreatic fistula groups (Mann-Whitney U test 59.5, p=0.12). The drain fluid amylase values were statistically different between clinically relevant postoperative pancreatic fistula and non- clinically relevant postoperative pancreatic fistula groups (Mann-Whitney U test 27, p=0.004). The alternative fistula risk score and drain fluid amylase were independently less predictive for clinically relevant postoperative pancreatic fistula, compared to combined alternative fistula risk score + drain fluid amylase. CONCLUSION: The combined model involving alternative fistula risk score >20% + drain fluid amylase=5,000 U/L was the most effective predictor of clinically relevant postoperative pancreatic fistula occurrence following pancreaticoduodenectomy.

Rationale: Perianal tuberculosis is extremely rare without previous or active pulmonary infection. Ulcerative skin lesion is a rare presentation of extrapulmonary tuberculosis in the oral, perianal, or genital mucosa and the adjacent skin. Case report: A 71-year-old woman complained of pain during evacuation and fecal incontinence for two years. There was an ulcerated lesion in the perianal and intergluteal region and perianal fistulous tracts. A polymerase chain reaction test on blood and biopsies of perianal ulcers, perianal fistula, and the intergluteal area was positive for Mycobacterium tuberculosis. The pathological examination revealed a chronic epithelioid granulomatous inflammatory process with the presence of multinucleated giant cells. After the end of the tuberculosis drug regimen, there was marked improvement in the patient's clinical condition. Conclusion: Even in the absence of an identifiable primary focus, tuberculosis should be considered in the differential diagnosis of ulcerative and fistulous lesions of the perianal area.