Genetic diagnosis for a pedigree affected with hereditary nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for pedigree affected with hereditary nephrogenic diabetes insipidus (HNDI).@*METHODS@#Next generation sequencing (NGS) with an osteology system gene panel was carried out for the proband. Suspected mutation was validated by Sanger sequencing of two relatives with similar symptoms and two unaffected relatives from the pedigree.@*RESULTS@#The proband was found to carry a c.856C>T mutation of the AVPR2 gene. The same mutation was detected in the two relatives with similar symptoms and one unaffected healthy relative.@*CONCLUSION@#The HNDI in this pedigree may be attributed to the c.856C>T mutation of the AVPR2 gene.

Study of the value of PSADT in the follow-up of patients with prostate cancer after MAB therapy / 中华泌尿外科杂志

Objective To study the value of PSADT in predicting the prognosis and the possibility of disease progression for patients with prostate cancer after MAB therapy.Methods Based on the retrospective review of the history and the follow-up of 159 prostate cancer patients,who received MAB therapy in our department from January 1994 to December 2010,PSADT values were calculated and survival analysis was performed.The ages at diagnosis ranged from 54 to 90 years with a median of 74 years.The pretreatment PSA value ranged from 2.6 to 275.0 μg/L with a median of 46.8 μg/L.The patients of Gleason score ≤6,7 and ≥8 constituted 27.7％,42.1％ and 25.2％,respectively.Only 26.4％ of the patients were staged as T1N0M0-T2N0M0 and the others had locally advanced disease or metastasis.A multivariate analysis with a Cox's proportional hazard model was used and the disease progression rates in different PSADT groups were also compared.Chi-square test and Log-rank test were applied in statistic analysis.Results The 159 patients received follow-up with a median period of 28 months (6-126 m).The median PSADT of these 159 patients was 5.7 months (0.5-21.0 m).The 3-year and 5-year survival for the 71 patients,whose PSADT were not less than 6 months,were 89.4％ and 47.6％ respectively,compared with 49.8％ and 30.6％ for the other 88 patients whose PSADT were less than 6 months.The survivals were significantly different between the two groups (P ＜ 0.01).It was confirmed by a further multivariate analysis with a Cox' s proportional hazard model that PSADT was one of the predictive factors of the prognosis of these prostate cancer patients with a hazard ratio of 2.6 (P ＜ 0.01).Moreover,disease progression were found in 19.7％ of the PSADT≥6 m group during the follow-up compared with 63.6％ in the PSADT ＜6 m group.The disease progression rates were also significantly different (P ＜ 0.0 l).Conclusions PSADT can be used to predict the prognosis of patients with prostate cancer after the MAB therapy.The survival for the patients,whose PSADT are not less than 6 months,is higher than those whose PSADT less than 6 months.Meanwhile,PSADT can predict the possibility of disease progression after MAB treatment.