The protection and utilization of great sites not only are related to the inheritance of historical and cultural heritage and academic research,but also directly affect local economic development and social and cultur...The protection and utilization of great sites not only are related to the inheritance of historical and cultural heritage and academic research,but also directly affect local economic development and social and cultural dissemination.In this paper,five major great sites in Zhengzhou City(Dahe Village Site,Zhengzhou Shangcheng Site,Xiaoshuangqiao Site,the Capital of Zheng and Han States,and Mausoleum of Song Dynasty Tombs of Song Emperors)are taken as research objects,and a set of index system for evaluating the protection and utilization of great sites is constructed.A comprehensive evaluation is conducted from seven aspects:protection management,research value,site utilization,cultural value dissemination,socio-economic benefits,utilization effects,and regional development coordination.This paper provides a comprehensive and scientific evaluation perspective for the protection and utilization of great sites,which helps to better grasp the direction of site protection and utilization,and develop more practical and effective strategies for site protection and utilization.展开更多
Autosomal recessive congenital ichthyosis(ARCI)is characterized by being born as collodion babies,hyperkeratosis,and skin scaling.We described a collodion baby at birth with mild ectropion,eclabium,and syndactyly.Whol...Autosomal recessive congenital ichthyosis(ARCI)is characterized by being born as collodion babies,hyperkeratosis,and skin scaling.We described a collodion baby at birth with mild ectropion,eclabium,and syndactyly.Whole exome sequencing showed a compound heterozygous variant c.[56C>A],p.(Ser19X)and c.[100G>A],p.(Ala34Thr)in the PNPLA1 gene[NM_001145717;exon 1].The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride toω-hydroxy fatty acid in ceramide,thus giving rise toω-O-acylceramide,a particular class of sphingolipids that is essential for skin barrier function.The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt the function of the protein.This case report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.展开更多
文摘The protection and utilization of great sites not only are related to the inheritance of historical and cultural heritage and academic research,but also directly affect local economic development and social and cultural dissemination.In this paper,five major great sites in Zhengzhou City(Dahe Village Site,Zhengzhou Shangcheng Site,Xiaoshuangqiao Site,the Capital of Zheng and Han States,and Mausoleum of Song Dynasty Tombs of Song Emperors)are taken as research objects,and a set of index system for evaluating the protection and utilization of great sites is constructed.A comprehensive evaluation is conducted from seven aspects:protection management,research value,site utilization,cultural value dissemination,socio-economic benefits,utilization effects,and regional development coordination.This paper provides a comprehensive and scientific evaluation perspective for the protection and utilization of great sites,which helps to better grasp the direction of site protection and utilization,and develop more practical and effective strategies for site protection and utilization.
基金This study was supported by the Jiangsu Maternal and Child Health Research Project(F201863).
文摘Autosomal recessive congenital ichthyosis(ARCI)is characterized by being born as collodion babies,hyperkeratosis,and skin scaling.We described a collodion baby at birth with mild ectropion,eclabium,and syndactyly.Whole exome sequencing showed a compound heterozygous variant c.[56C>A],p.(Ser19X)and c.[100G>A],p.(Ala34Thr)in the PNPLA1 gene[NM_001145717;exon 1].The protein encoded by PNPLA1 acts as a unique transacylase that specifically transfers linoleic acid from triglyceride toω-hydroxy fatty acid in ceramide,thus giving rise toω-O-acylceramide,a particular class of sphingolipids that is essential for skin barrier function.The variant was located in the patatin core domain of PNPLA1 and resulted in a truncated protein which could disrupt the function of the protein.This case report highlights a novel compound heterozygous mutation in PNPLA1 identified in a Chinese child.
