Clinical study on 45 cases with endogenous caesarean scar pregnancy / 中国基层医药

Objective To study the effect of ultrasound guided curettage after methotrexate and mifepristone in the treatment of endogenous caesarean scar pregnancy.Methods A retrospective analysis was performed on 43 patients of endogenous caesarean scar pregnancy undergoing treatment of ultrasound guided curettage after methotrexate and mifepristone.Results 39 cases were successful,4 cases were transformed to laparotomy because of intraoperative blood loss,7 cases of bleeding after curettage were successful by uterine carity placed double lumina Foley catheter. Conclusion Ultrasound guided curettage after methotrexate and mifepristone is a safe,effective,little trauma and low cost method in the treatment of endogenous caesarean scar pregnancy,it especially adapts to primary hospital.

A Simplified Approach for Detecting Homologous Deletion of SMN1 Genes in Spinal Muacular Atrophy / 医学研究杂志

Objective To develop a rapid,reliable and convenient approach for diagnosing the homozygous deletion of SMN1 gene.Methods SMN1 gene was amplified specifically with double allele-specific PCR(AS-PCR).Meanwhile,one inrelevant gene was amplified as internal control by PAGE and agarose gel electrophoresis analysis to determine whether the sick children were with homozygous deletion of SMN1 genes.Results The homozygous deletion of exon7 in SMN1 gene was identified by agarose gel electrophoresis or PAGE accurately.Conclusion Compared to PCR-RFLP and DHPLC used in the past,this approach can diagnose homozygous deletion of SMA much more accurate,easier and more convenient without completed following analyses.

A Novel Mutation of ADAR Gene Identified in a Chinese Pedigree with Dyschromatosis Symmetrical Hereditaria / 医学研究杂志

Objective To discover the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria(DSH). Methods We investigated this family and collected blood samples of the individuals in this family. Mutation screening was carried out by PCR and direct sequencing. The allele specific primer was designed for the mutation point, and allele-specific PCR was carried out on the patients, normal family members and 40 normal individuals. Results A single nucleotide deletion (c.1642 delC) was identified in exon3 of ADAR gene in the patients of this family. This mutation was not detected in the normal family members and in any of the control individuals. Conclusion This single nucleotide deletion was responsible for the disease in the family.