RESUMO
PURPOSE: In order to clarify which variants of the MMR gene could provide current "healthy" members in affected families a more accurate risk assessment or predictive testing. PATIENTS AND METHODS: One family, which meets the criteria according to both Amsterdam I/II and Bethesda guidelines, is reported in this study. The proband and some relatives of the patient have been investigated for whole genome sequencing, microsatellite instability, immunohistochemical MMR protein staining and verified by Sanger sequencing. RESULTS: A heterozygous insertion of uncertain significance (c.420dup, p.Met141Tyrfs) in MSH2 gene was found in proband (III-16) and part of His relatives. The variant was associated with a lack of expression of MSH2 protein (MMR deficient) and high microsatellite instability analysis (MSI) status in tumor tissues of LS patients. In addition, we found that the variant could affect the expression of MSH2 and the response to chemotherapy drugs in vitro. CONCLUSION: We identified an insertion mutation (rs1114167810, c.420dup, p.Met141Tyrfs) in MSH2 in LS using whole genome-wide sequencing (WGS). We further confirmed that this mutation plays an important role in LS patients of this pedigree based on in vivo and vitro study.
RESUMO
BACKGROUND: Previous reviews of the effectiveness of antibiotic prophylaxis for elective inguinal hernia repair were not conclusive owing to the limited number of patients enrolled in randomized controlled trials (RCTs). However, since new RCTs involving patients undergoing tention-free hernioplasty have been published in recent years, we performed a new meta-analysis to evaluate the effectiveness of antibiotic prophylaxisin the prevention of postoperative complications after this procedure. METHODS: We performed a meta-analysis of RCTs studying the use of antibiotic prophylaxis to prevent postoperative complications in patients undergoing tension-free hernioplasty. RESULTS: We included 6 RCTs conducted around the world in our analysis. Compared with the control condition, antibiotic prophylaxis was associated with a lower incidence of incision infection (odds ratio [OR] 0.45, 95% confidence interval [CI] 0.26-0.77, p = 0.004). There were no significant differences in risk for incision hematoma (OR 1.57, 95% CI 0.60-4.10, p = 0.35), respiratory infection (OR 1.00, 95% CI 0.17-5.79, p > 0.99) or urinary tract infection (OR 1.81, 95% CI 0.38-8.52, p = 0.45) between the 2 conditions. CONCLUSION: Antibiotic prophylaxis use in patients undergoing tension-free hernioplasty decreases the rate of incision infection by 55%.
