●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa...●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.展开更多
Here, we report the construction of magnetic core-shell microparticles for oil removal with thermal driving regeneration property. Water-in-oil-in water (W/O/W) emulsions from microfluidics are used as templates to pr...Here, we report the construction of magnetic core-shell microparticles for oil removal with thermal driving regeneration property. Water-in-oil-in water (W/O/W) emulsions from microfluidics are used as templates to prepare core-shell microparticles with magnetic holed poly (ethoxylated trimethylolpropane triacrylate) (PETPTA) shells each containing a thermal-sensitive poly (N-Isopropylacrylamide) (PNIPAM) core. The microparticles could adsorb oil from water due to the special structure and be collected with a magnetic field. Then, the oil-filled microparticles would be regenerated by thermal stimulus, in which the inner PNIPAM microgels work as thermal-sensitive pistons to force out the adsorbed oil. At the same time, the adsorbed oil would be recycled by distillation. Furthermore, the adsorption capacity of the microparticles for oil keeps very stable after 1st cycle. The adsorption and regeneration performances of the microparticles are greatly affected by the size of the holes on the outer PETPTA shells, which could be precisely controlled by regulating the interfacial forces in W/O/W emulsion templates. The optimized core-shell microparticles show excellent oil adsorption and thermal driving regeneration performances nearly without secondary pollution, and would be a reliable green adsorption material for kinds of oil.展开更多
It is a practically significant issue to refine and modify industrial Al-Si casting alloy to improve its properties.In the present study,a novel refiner Al-3Ti-4.35La alloy,prepared by a melt-reaction method,was used,...It is a practically significant issue to refine and modify industrial Al-Si casting alloy to improve its properties.In the present study,a novel refiner Al-3Ti-4.35La alloy,prepared by a melt-reaction method,was used,combined with Sr to refine the as-cast A356 alloy.Their effects on the as-cast microstructures and mechanical properties of A356 alloy were investigated.The results indicate that the combined addition of Al-3Ti-4.35La intermediate alloy and Sr can improve the microstructure and enhance the mechanical properties of A356 alloy.After adding 0.3wt.%Al-3Ti-4.35La and 0.03wt.%Sr to the as-cast A356 alloy,the average grain size ofα-Al decreases from 693.47μm to 264.13μm(a decrease of 61.91%),the secondary dendrite arm spacing(SDAS)is decreased by 47.8%from 32.09μm to 16.75μm,and the eutectic Si is transformed from an acicular structure to short rods and a granular structure.The ultimate tensile strength(UTS)and elongation(EL)of the as-cast A356 alloy modified by Al-3Ti-4.35La and Sr reach 216.3 MPa and 10.6%,which are enhanced by 29.54%and 134.66%compared with the unmodified alloy,respectively.The fracture mode is transformed from transgranular fracture to intergranular fracture,and the ductile toughness of the alloy is improved.After adding the Al-3Ti-4.35La and Sr,the undercooling for the nucleation ofα-Al and eutectic Si increases,leading to an accelerated nucleation rate and an increased number of nuclei,which shortens the duration of the eutectic reaction and consequently inhibits grain growth.展开更多
文摘●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.
基金This work was supported by the National Natural Science Foundation of China[grant numbers 21706219]。
文摘Here, we report the construction of magnetic core-shell microparticles for oil removal with thermal driving regeneration property. Water-in-oil-in water (W/O/W) emulsions from microfluidics are used as templates to prepare core-shell microparticles with magnetic holed poly (ethoxylated trimethylolpropane triacrylate) (PETPTA) shells each containing a thermal-sensitive poly (N-Isopropylacrylamide) (PNIPAM) core. The microparticles could adsorb oil from water due to the special structure and be collected with a magnetic field. Then, the oil-filled microparticles would be regenerated by thermal stimulus, in which the inner PNIPAM microgels work as thermal-sensitive pistons to force out the adsorbed oil. At the same time, the adsorbed oil would be recycled by distillation. Furthermore, the adsorption capacity of the microparticles for oil keeps very stable after 1st cycle. The adsorption and regeneration performances of the microparticles are greatly affected by the size of the holes on the outer PETPTA shells, which could be precisely controlled by regulating the interfacial forces in W/O/W emulsion templates. The optimized core-shell microparticles show excellent oil adsorption and thermal driving regeneration performances nearly without secondary pollution, and would be a reliable green adsorption material for kinds of oil.
基金financially supported by the National Natural Science Foundation of China(Grant No.52161006)an Industrial Support Plan Project of Gansu Provincial Department of Education(2021CYZC-23)+2 种基金the Gansu Key Research and Development Program(21YF5GD183)the Jiayuguan Science and Technology Planning Project(21-10)the China Postdoctoral Science Foundation Project(2019M653896XB)。
文摘It is a practically significant issue to refine and modify industrial Al-Si casting alloy to improve its properties.In the present study,a novel refiner Al-3Ti-4.35La alloy,prepared by a melt-reaction method,was used,combined with Sr to refine the as-cast A356 alloy.Their effects on the as-cast microstructures and mechanical properties of A356 alloy were investigated.The results indicate that the combined addition of Al-3Ti-4.35La intermediate alloy and Sr can improve the microstructure and enhance the mechanical properties of A356 alloy.After adding 0.3wt.%Al-3Ti-4.35La and 0.03wt.%Sr to the as-cast A356 alloy,the average grain size ofα-Al decreases from 693.47μm to 264.13μm(a decrease of 61.91%),the secondary dendrite arm spacing(SDAS)is decreased by 47.8%from 32.09μm to 16.75μm,and the eutectic Si is transformed from an acicular structure to short rods and a granular structure.The ultimate tensile strength(UTS)and elongation(EL)of the as-cast A356 alloy modified by Al-3Ti-4.35La and Sr reach 216.3 MPa and 10.6%,which are enhanced by 29.54%and 134.66%compared with the unmodified alloy,respectively.The fracture mode is transformed from transgranular fracture to intergranular fracture,and the ductile toughness of the alloy is improved.After adding the Al-3Ti-4.35La and Sr,the undercooling for the nucleation ofα-Al and eutectic Si increases,leading to an accelerated nucleation rate and an increased number of nuclei,which shortens the duration of the eutectic reaction and consequently inhibits grain growth.
