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.

Transvaginal pelvic mesh sling-wide clinical effectiveness analysis / 中国医师进修杂志

Objective To discuss the clinical efficacy and complication of using polypropylene net in pelvic floor reconstruction to treat pelvic floor organ prolapsus. Method From October 2007 to May 2008,15 cases of organ prolapsus of many region defect in pelvic cavity were operated pelvic floor reconstruction, 14 cases had three regional defects,and 1 case had two regional defects. Results All the cases were punctured smoothly without hematoma and injury of blood vessel and organs. The time of operation for 15 cases ranged from 60 to 150 minutes,averaged (85.0±4.3) minutes. The amount of bleeding in operations ranged from 150 to 400 ml,averaged (200.0±0.1) ml. Fifteen cases recovered well after operation without infection.The days in hospital were 5-9 days,averaged (6.0±0.7) days. Following up 1-12 months,pelvic floor structure of all patients were normal,and interrelated symptom disappeared or improved. One case was discovered the net was eroded after 5 weeks. Conclusions Pelvic floor suspension by vagina is a micro operation to treat complicated pelvic floor organ prolapsus. It can accomplish pelvic floor reconstruction and reserve uterus simultaneously, healing efficacy is stable in short-term,but need further observation.