Objective To investigate whether mutations exist in codon 58 and codon 347 of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa(ADRP)． Methods Point mutations at codons 58 and 347 were detected by restriction endonuclease digestion of exons 1 and 5 amplified by polymerase chain reaction(PCR)．This method was applied to screen genomic DNAs from 57 patients of 38 families with ADRP and 60 normal controls． Results Four patients from one family of ADRP were confirmed to have a point mutation at the second nucleotide of codon 58,and 6 patients from two families of ADRP were found to have a mutation at codon 347．None of these mutations were found in 60 normal subjects． Conclusion It is suggested that molecular genetic heterogeneity exists within ADRP and some subtypes of ADRP are caused by points mutations of the rhodopsin gene． (Chin J Ocul Fundus Dis,1998,14:108-110)
ObjectiveTo systematically review the efficacy and safety of laparoscopic versus open nephrectomy in the treatment of autosomal dominant polycystic kidney disease (ADPKD). MethodsWe searched databases including MEDLINE, EMbase, The Cochrane Library (Issue 1, 2015), Web of Science, CBM and WanFang Data to collect relevant clinical studies comparing the efficacy and safety of laparoscopic versus open nephrectomy for ADPKD from inception to Jan, 2015. Two reviewers independently screened literature, extracted data and assessed the risk bias of included studies. Then, RevMan 5.4 software was used for meta-analysis. ResultsA total of six retrospective cohort studies involving 182 patients were included. The results of the meta-analysis showed that:compared with the open nephrectomy group, the average hospitalization time was shorter (MD=-4.38 days, 95%CI -5.93 to -2.83, P=0.000 01) and the blood transfusion risk was lower (OR=0.25, 95%CI 0.10 to 0.62, P=0.003) in the laparoscopic nephrectomy group. However, there was no significant difference between two groups in the incidence of overall complications (OR=0.51, 95%CI 0.24 to 1.06, P=0.07). ConclusionThe application of laparoscopic nephrectomy for ADPKD can reduce the hospitalization time and blood transfusion risk when compared with the open nephrectomy, but the two operations have similar overall complication rate. Due to the limited quality and quantity of the included studies, more high quality studies are needed to verify the above conclusion.