Objective:Nucleotide excision repair(NER)plays a vital role in maintaining genome stability,and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation.This study aimed to ev...Objective:Nucleotide excision repair(NER)plays a vital role in maintaining genome stability,and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation.This study aimed to evaluate the relationship between NER gene polymorphisms and the risk of hepatoblastoma in Eastern Chinese Han children.Methods:In this five-center case-control study,we enrolled 966 subjects from East China(193 hepatoblastoma patients and 773 healthy controls).The TaqMan method was used to genotype 19 single nucleotide polymorphisms(SNPs)in NER pathway genes,including ERCC1,XPA,XPC,XPD,XPF,and XPG.Then,multivariate logistic regression analysis was performed,and odds ratios(ORs)and 95%confidence intervals(95%CIs)were utilized to assess the strength of associations.Results:Three SNPs were related to hepatoblastoma risk.XPC rs2229090 and XPD rs3810366 significantly contributed to hepatoblastoma risk according to the dominant model(adjusted OR=1.49,95%CI=1.07−2.08,P=0.019;adjusted OR=1.66,95%CI=1.12−2.45,P=0.012,respectively).However,XPD rs238406 conferred a significantly decreased risk of hepatoblastoma under the dominant model(adjusted OR=0.68,95%CI=0.49−0.95;P=0.024).Stratified analysis demonstrated that these significant associations were more prominent in certain subgroups.Moreover,there was evidence of functional implications of these significant SNPs suggested by online expression quantitative trait loci(eQTLs)and splicing quantitative trait loci(sQTLs)analysis.Conclusions:In summary,NER pathway gene polymorphisms(XPC rs2229090,XPD rs3810366,and XPD rs238406)are significantly associated with hepatoblastoma risk,and further research is required to verify these findings.展开更多
The digital twins(DT)has quickly become a hot topic since it was proposed.It appears in all kinds of commercial propaganda and is widely quoted by academic circles.However,the term DT has misstatements and is misused ...The digital twins(DT)has quickly become a hot topic since it was proposed.It appears in all kinds of commercial propaganda and is widely quoted by academic circles.However,the term DT has misstatements and is misused in business and academics.This study revisits DT and defines it to be a more advanced system/product/service modeling and simulation environment that combines most modern information communication technologies(ICTs)and engineering mechanism digitization and characterized by system/product/service life cycle management,physically geometric visualization,real-time sensing and measurement of system operating conditions,predictability of system performance/safety/lifespan,and complete engineering mechanisms-based simulations.The idea of DT originates from modeling and simulation practices of engineering informatization,including virtual manufacturing(VM),model predictive control,and building information modeling(BIM).On the basis of the two-element VM model,we propose a three-element model to represent DT.DT does not have its unique technical characteristics.The existing practices of DT are extensions of the engineering informatization embracing modern ICTs.These insights clarify the origin of DT and its technical essentials.展开更多
基金supported by grants from the Innovation and Cultivation Fund Project of the Seventh Medical Center,PLA General Hospital(No.QZX-2023-7)Postdoctoral Science Foundation of China(No.2021M691649)Postdoctoral Science Foundation of Jiangsu Province(No.2021K524C).
文摘Objective:Nucleotide excision repair(NER)plays a vital role in maintaining genome stability,and the effect of NER gene polymorphisms on hepatoblastoma susceptibility is still under investigation.This study aimed to evaluate the relationship between NER gene polymorphisms and the risk of hepatoblastoma in Eastern Chinese Han children.Methods:In this five-center case-control study,we enrolled 966 subjects from East China(193 hepatoblastoma patients and 773 healthy controls).The TaqMan method was used to genotype 19 single nucleotide polymorphisms(SNPs)in NER pathway genes,including ERCC1,XPA,XPC,XPD,XPF,and XPG.Then,multivariate logistic regression analysis was performed,and odds ratios(ORs)and 95%confidence intervals(95%CIs)were utilized to assess the strength of associations.Results:Three SNPs were related to hepatoblastoma risk.XPC rs2229090 and XPD rs3810366 significantly contributed to hepatoblastoma risk according to the dominant model(adjusted OR=1.49,95%CI=1.07−2.08,P=0.019;adjusted OR=1.66,95%CI=1.12−2.45,P=0.012,respectively).However,XPD rs238406 conferred a significantly decreased risk of hepatoblastoma under the dominant model(adjusted OR=0.68,95%CI=0.49−0.95;P=0.024).Stratified analysis demonstrated that these significant associations were more prominent in certain subgroups.Moreover,there was evidence of functional implications of these significant SNPs suggested by online expression quantitative trait loci(eQTLs)and splicing quantitative trait loci(sQTLs)analysis.Conclusions:In summary,NER pathway gene polymorphisms(XPC rs2229090,XPD rs3810366,and XPD rs238406)are significantly associated with hepatoblastoma risk,and further research is required to verify these findings.
文摘The digital twins(DT)has quickly become a hot topic since it was proposed.It appears in all kinds of commercial propaganda and is widely quoted by academic circles.However,the term DT has misstatements and is misused in business and academics.This study revisits DT and defines it to be a more advanced system/product/service modeling and simulation environment that combines most modern information communication technologies(ICTs)and engineering mechanism digitization and characterized by system/product/service life cycle management,physically geometric visualization,real-time sensing and measurement of system operating conditions,predictability of system performance/safety/lifespan,and complete engineering mechanisms-based simulations.The idea of DT originates from modeling and simulation practices of engineering informatization,including virtual manufacturing(VM),model predictive control,and building information modeling(BIM).On the basis of the two-element VM model,we propose a three-element model to represent DT.DT does not have its unique technical characteristics.The existing practices of DT are extensions of the engineering informatization embracing modern ICTs.These insights clarify the origin of DT and its technical essentials.
