Bibliometric Analysis Of Congenital Bilateral Absence Of Vas Deferens, Study On Reproductive Outcomes Of Patients And Genetic Etiolog

Part 1 Global research trends on the absence of vas deferens:a bibliometric and visualized studyObjectives:To conduct a bibliometric analysis of publications on the absence of vas deferens(CBAVD)and explore hot topics regarding the subject.Methods:Publications about CBAVD research were retrieved from the Web of Science Core Collection(WoSCC).We conducted bibliometric analyses using CiteSpace and VOSviewer software.The result parameters are the author,number of papers published,main contributing institutions and countries,impact factor of the published journal,citation analysis of the literature,the hot keywords and evolution of the keywords over time,etc.In addition,network maps were presented to evaluate the collaborations between them.Results:A total of 918 articles were included in the analysis.Since 1998,the number of publications has gradually declined.Human reproduction(69 papers)represented the most papers and was also the most co-cited journal.Silber Sj,Asch Rh and Patrizio P were leading researchers,and there were active collaborations among the top authors.The USA was the leading national contributor in this field,with 231 publications,followed by France,Italy,England,Germany and China.Hot topics included the themes of vas deferens,cystic fibrosis,congenital bilateral absence,mutations,infertility and CFTR.Conclusion:This historical overview of research on CBAVD,a relatively rare disease,will be useful for further research.Future research on specific areas regarding hot topics is recommended.Part 2 Effects of clinical characteristics of infertile men with CBAVD on fertility outcomePurpose:To report fertility outcomes of infertile male with congenital bilateral absence of the vas deferens(CBAVD).Methods:Our study cohort comprised CBAVD males who were enrolled from 2005 to 2020.Baseline information was collected including mean age,previous medical history,duration of prepare for pregnancy,sex hormone assays,ejaculate volume/pH,parameters of sperm retrieved by percutaneous epididymal sperm aspiration(PESA),development of seminal vesicle,follow up fertility outcomes of the patients with Intracytoplasmic sperm injection(ICSI)and compared the impact of varies male factors on fertility outcomes.Results:172 participants with CBAVD were analyzed.A total of 211 ICSI cycles were performed and the live birth rate was 43.60%.Among 126 live births,57(45.24%)were boy and 69(54.76%)were girl.There were no significant differences between successes group of couples and fail group of couples for first ICSI cycles cases in terms of age(P=0.09),testicle volume(left P=0.96,right P=0.41),sex hormones(P>0.05),ejaculate volume(P=0.79),ejaculate pH(P=0.78)or sperm quality parameters from PESA(P>0.05).Conclusions:This study indicates that the clinical characteristics of male with CBAVD had no impact on fertility outcomes.Part 3 Analysis of CNVs of CFTR gene in Chinese Han population with CBAVDPurpose:Congenital bilateral absence of vas deferens(CBAVD)is an important disease of male infertility,which affects 1%-2%of infertile population.In addition to common mutations of CFTR,copy number variants(CNVs)have also been implicated as one of the pathogenesis of CBAVD.The present study aimed to investigate the genetic contribution of CFTR CNVs in Chinese Han population with CBAVD.Methods:Two hundred and sixty-three CBAVD patients were recruited.Genomic DNA was extracted from peripheral blood samples.The Multiplex Ligation-dependent Probe Amplification assay was performed which targets the region of the CFTR gene and analysis the pathogenic.Results:Among 263 Chinese men affected with CBAVD in this study,5(1.90%)patients were detected for copy number variants in the region of CFTR gene(4 of them carried partial deletions and 1 of them carried partial duplication of CFTR gene).Three CNVs(deletion of exons 14-15,deletion of exons 22-24 and deletion of exons 18-20)were evaluated to be pathogenic.Conclusions:The study showed that the rate of CFTR CNVs in Chinese population with CBAVD was basically consistent with the previous reports.And the study first revealed genetic risk of CNVs of CFTR on a large sample size of CBAVD patients in Chinese Han population,which prompted that it was necessary to detect CNVs of CFTR in Chinese Han people with CBAVD.