Analysis of a pedigree affected with HSAS syndrome due to a noval variant of L1CAM gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with hydrocephalus.@*METHODS@#The fetus was found to have hydrocephalus upon ultrasonography duringthe second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA and whole exome sequencing.Sanger sequencing was used to verify the suspected variants in the family.@*RESULTS@#The fetus was found to harbor a hemizygous c.620A>G (p.Tyr207Cys) variant of the L1CAM gene (OMIM 308840),for which his mother and sister were heterozygous carriers. The same variant was not found in his father, uncle and grandparents.Based on the standards and guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be likely pathogenic (PM1+PM2+PP3+PP4).@*CONCLUSION@#The hemizygous c.620A>G (p.Tyr207Cys) variant of the L1CAM gene probably underlay the hydrocephalus in this fetus.

Clinical Outcome of Foley Catheter Balloon Versus Prostaglandins in Labor Induction of Late Pregnancy：A Meta Analysis / 医药导报

Objective To compare the efficacy and safety of Foley catheter (FC) and prostaglandins (PG) for cervical ripening used in labor induction of late pregnant women with unfavorable cervix. Methods Several databases including Cochrane Library,Embase,PubMed,Elsevier,Wanfang Medical Database, CNKI, VIP were searched for collecting the related literatures according to criteria for inclusion and exclusion.Meta analysis was performed by applying software Review Manager 5.2. Results Thirty randomized controlled trials were included.The FC group presented significantly lower risk of excessive uterine contraction [OR= 0.38,95%CI(0.19,0.75),P<0.05] than the PG group.There was no significant difference between the two groups in terms of Cesarean section rate, vaginal delivery rate, Bishop score improvement, duration of induction to delivery, neonatal birth weight, or in neonatal outcome. Conclusion This study shows that FC has good promoting effect of cervical maturity and maternal￣ neonatal outcomes, and rarely produces excessive uterine contraction.It is safe and equally effective as PG does.The approach is easy to operate and worth to apply in clinical use.