A series of novel p（N-isopropylacrylamide） （PNIPAM） hydrogels were synthesized by radical copolymerization of N-isopropylacrylamide （NIPAM） and 3-methacryloxypropyltrimethoxysilane （MPTMS）. The copolymers were...A series of novel p（N-isopropylacrylamide） （PNIPAM） hydrogels were synthesized by radical copolymerization of N-isopropylacrylamide （NIPAM） and 3-methacryloxypropyltrimethoxysilane （MPTMS）. The copolymers were then crosslinked through hydrolysis of the siloxane in acetic acid/water mixed solvent. Beta-cyclodextrin （Beta-CD） was introduced into the polymeric networks by condensation of 3-glycidoxypropyltrimethoxysilane derived beta-cyclodextrin （KH560-beta-CD） with MPTMS under acidic condition. These gels were heterogeneous, porous and exhibited fast deswelling kinetics when the temperature was elevated to above lower critical solution temperature （LCST）. The swelling ratios of the gels containing beta-CD at room temperature were higher than that of the normal PNIPAM hydrogel, which was caused by the lower crosslinking density in beta-CD contained gels. In comparison to that of the normal PNIPAM gel, the amount of loaded-drug in the hydrogel containing beta-CD was higher, and the release time of 5-fluorouracil （5-Fu） was prolonged, which was attributed to the formation of inclusion compounds between 5-Fu and beta-CD in gel network.展开更多
Background During next generation sequencing(NGS)data interpretation in critically ill newborns,there is a potential for recognizing and reporting secondary findings(SFs).Early awareness of SFs may provide clues for d...Background During next generation sequencing(NGS)data interpretation in critically ill newborns,there is a potential for recognizing and reporting secondary findings(SFs).Early awareness of SFs may provide clues for disease prevention.In this study,we assessed the frequency of SFs in the China Neonatal Genomes Project(CNGP)participants.Methods A total of 2020 clinical exome sequencing(CES)datasets were screened for variants from a list of 59 genes recommended by the American College of Medical Genetics and Genomics(ACMG)for secondary findings reporting v2.0(ACMG SF v2.0).Identified variants were classified according to the evidence-based guidelines reached by a joint consensus of the ACMG and the Association for Molecular Pathology(AMP).Results Among the 2020 CES datasets,we identified 23 ACMG-reportable genes in 61 individuals,resulting in an overall frequency of SFs at 3.02%.A total of 53 unique variants were identified,including 35 pathogenic and 18 likely pathogenic variants.The common disease categories of SFs associated were cardiovascular and cancer disease.The SF results affected the medical management and follow-up strategy in 49(80.3%)patients.Conclusions We presented the frequency of SFs and their impact on clinical management strategies in CNGP participants.Our study demonstrated that SFs have important practical value in disease prevention and intervention at an early stage.展开更多
基金National Natural Science Foundation of China(Nos.52001140,52274363)Guangdong Basic Applied Basic Research Foundation,China(Nos.2022A1515010558,2022A1515011597,2022A1515240065)。
基金This work was financially supported by the National Key Basic Research Program of China(973 Program)(No.G1999064703).
文摘A series of novel p（N-isopropylacrylamide） （PNIPAM） hydrogels were synthesized by radical copolymerization of N-isopropylacrylamide （NIPAM） and 3-methacryloxypropyltrimethoxysilane （MPTMS）. The copolymers were then crosslinked through hydrolysis of the siloxane in acetic acid/water mixed solvent. Beta-cyclodextrin （Beta-CD） was introduced into the polymeric networks by condensation of 3-glycidoxypropyltrimethoxysilane derived beta-cyclodextrin （KH560-beta-CD） with MPTMS under acidic condition. These gels were heterogeneous, porous and exhibited fast deswelling kinetics when the temperature was elevated to above lower critical solution temperature （LCST）. The swelling ratios of the gels containing beta-CD at room temperature were higher than that of the normal PNIPAM hydrogel, which was caused by the lower crosslinking density in beta-CD contained gels. In comparison to that of the normal PNIPAM gel, the amount of loaded-drug in the hydrogel containing beta-CD was higher, and the release time of 5-fluorouracil （5-Fu） was prolonged, which was attributed to the formation of inclusion compounds between 5-Fu and beta-CD in gel network.
基金Shanghai Municipal Science and Technology Major Project(Grant No.20Z11900600)Clinical Research Plan of Shanghai Hospital Development Center(SHDC2020CR6028-002).
文摘Background During next generation sequencing(NGS)data interpretation in critically ill newborns,there is a potential for recognizing and reporting secondary findings(SFs).Early awareness of SFs may provide clues for disease prevention.In this study,we assessed the frequency of SFs in the China Neonatal Genomes Project(CNGP)participants.Methods A total of 2020 clinical exome sequencing(CES)datasets were screened for variants from a list of 59 genes recommended by the American College of Medical Genetics and Genomics(ACMG)for secondary findings reporting v2.0(ACMG SF v2.0).Identified variants were classified according to the evidence-based guidelines reached by a joint consensus of the ACMG and the Association for Molecular Pathology(AMP).Results Among the 2020 CES datasets,we identified 23 ACMG-reportable genes in 61 individuals,resulting in an overall frequency of SFs at 3.02%.A total of 53 unique variants were identified,including 35 pathogenic and 18 likely pathogenic variants.The common disease categories of SFs associated were cardiovascular and cancer disease.The SF results affected the medical management and follow-up strategy in 49(80.3%)patients.Conclusions We presented the frequency of SFs and their impact on clinical management strategies in CNGP participants.Our study demonstrated that SFs have important practical value in disease prevention and intervention at an early stage.
