Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation.@*METHODS@#For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase@*RESULTS@#For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele.@*CONCLUSION@#FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.

Indwelling anal tube prevents postoperative anastomotic leakage in colorectal cancer patients undergoing Dixon procedure / 中华普通外科杂志

Objective To evaluate an indwelling anal tube in the prevention of anastomotic leakage after laparoscopic Dixon procedure for rectal cancer.Methods From June 2015 to June 2017,71 rectal cancer patients undergoing laparoscopic Dixon procedure with the anastomotic margin to dentate line ＜ 4 cm were randomly divided into the study group (39 cases) to have an anal tube dranage and the control group (32 cases) without tube dranage.Within a week after surgery,the postoperative pressure changes in the rectum,defecation,anastomotic leakeage were monitored and observed.Results In study group postoperative intra rectal pressure at 2 h,and on days 1,2,3,4,5,6,7 were (13 ± 3),(8 ± 3),(11 ±2),(14 ±4),(16 ±3),(19 ±2),(21 ±3),(22±3) cmH2O,while in control group were (17 ±2),(11 ±3),(15 ±3),(17 ±3),(20 ±2),(22±3),(25 ±4),(26 ±2)cmH2O (all P＜ 0.05).In the study group the postoperative discharge and defecation were 1-2 days earlier than the control group.No anastomotic leakage occurred in study group,while in control group,there were 4 cases with the incidence rate of 12％,and the difference between the two groups was statistically significant (all P ＜ 0.05).Conclusion In Dixon procedure,routinely placed anal tube effectively prevent anastomotic leakage from occurring.