http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Nongthombam Puja Devi,Malini Suttur S. 한국유전학회 2023 Genes & Genomics Vol.45 No.6
Background Various populations have been investigated for the occurrence of two key DAZL polymorphisms, 260A > G (rs11710967) and 386A > G (rs121918346), as well as complete DAZ cluster deletion, with conflicting results. Objective The purpose of the current meta-analysis was to investigate if there is an association between DAZL polymorphisms and complete deletion of the DAZ cluster gene with male infertility. Methods Up until September 2022, a thorough search was conducted in the Pubmed and Google scholar databases. For 260A > G polymorphism, 8 studies with 2077 cases and 1398 controls, 13 studies for 386A > G polymorphism (4343 cases and 3727 controls) and 17 studies of DAZ deletion (2820 cases and 1589 controls) were included in the pooled analysis. All of the studies were statistically analysed by Review Manager 5.4, and publication bias was evaluated with JASP 0.16.2.0 software utilising funnel plots and Egger's linear regression test. Results The meta analysis result for pooled data indicated no association between 260A > G and 386A > G polymorphisms and male infertility in any of the genetic models or ethnicities. However, there was a definite correlation between complete deletion of the DAZ gene cluster and male infertility, with an OR = 13.23, 95% confidence interval (6.63–26.39), and p < 0.00001. In the stratified analysis by ethnicity, Caucasians and Asian ethnic groups showed the similar relationship. Conclusion In order to arrive at more definitive conclusions, further study should be conducted, including studies from a larger range of nations and nationalities.
Desai, Fanny Sharadkumar,Nongthombam, Jitendra,Singh, Lisam Shanjukumar Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.18
Background: Urinary stones are known predisposing factors for upper urinary tract carcinoma (UUTC) which are commonly detected at advanced stage with poor outcome because of rarity and lack of specific criteria for early detection. Aims and objectives: The main aim was to evaluate the impact of age, gender andstone characteristics on risk of developing UUTC in patients with chronic nephrolithiasis. We also discuss the role of aberrant angiogenesis (AA) and immunohistochemical expression of p53, p16INK4a, CK20 and Ki-67 in diagnosis of pelvicalyceal neoplastic (NL) and pre-neoplastic lesions (PNL) in these patients. Materials and Methods: Retrospective analysis of pelvicalyceal urothelial lesions from 88 nephrectomy specimens were carried out in a tertiary care centre from June 2012 to December 2014. Immunohistochemistry (IHC) was performed on 37 selected cases. Computed image analysis was performed to analyse aberrant angiogenesis. Results: All UUTC (5.7%) and metaplastic lesions were found to be associated with stones. Some 60% were pure squamous cell carcinoma and 40% were transitional cell carcinoma. Odd ratios for developing NL and PNL lesions in presence of renal stone, impacted stones, multiple and large stag horn stones were 9.39 (95% CI 1.15-76.39, p value 0.05), 6.28 (95% CI 1.59-24.85, p value 0.000) and 7.4 (95% CI, 2.29-23.94, p value 0.001) respectively. When patient age was ${\geq}55$, the odds ratio for developing NL was 3.43 (95% CI 1.19-9.88, p value 0.019). IHC analysis showed that mean Ki-67 indices were $3.15{\pm}3.63%$ for non-neoplastic lesions, $10.0{\pm}9.45%$ for PNL and $28.0{\pm}18.4%$ for NL. Sensitivity and specificity of CK20, p53, p16INK4a, AA were 76% and 95.9%; 100% and 27.5%; 100% and 26.5%; 92.3 % and 78.8% respectively. Conclusions: Age ${\geq}55years$, large stag horn stones, multiple stones and impacted stones are found to be associated with increased risk of NL and PNL in UUT. For flat lesions, a panel of markers, Ki 67 index >10 and presence of aberrant angiogenesis were more useful than individual markers.