目的:本研究旨在探讨ETHE1基因突变c.586G>A引起的乙基丙二酸脑病(EE)的临床表现、影像学、基因突变特性、诊断方法、治疗策略及预后。方法:收集并分析两例确诊携带ETHE1基因突变c.586G>A的EE家系的详尽临床资料,结合文献复习,总...目的:本研究旨在探讨ETHE1基因突变c.586G>A引起的乙基丙二酸脑病(EE)的临床表现、影像学、基因突变特性、诊断方法、治疗策略及预后。方法:收集并分析两例确诊携带ETHE1基因突变c.586G>A的EE家系的详尽临床资料,结合文献复习,总结其临床和遗传学特点。结果:先证者是一名22岁的男性,携带ETHE1基因的c.586G>A纯合突变,其父母均为该基因突变的杂合携带者,且确认为近亲结婚。其弟弟也同样携带该基因的纯合突变。通过基因检测和尿液分析,我们成功确诊了该疾病。结论:确认ETHE1基因突变c.586G>A与EE的直接联系。基因检测为EE的诊断和治疗提供宝贵的辅助信息,同时明确近亲结婚的遗传影响以及家系中EE的遗传易感性,对于早期识别、适当管理和家族遗传咨询至关重要。Objective: This study aims to explore the clinical manifestations, imaging findings, genetic mutation characteristics, diagnostic methods, treatment strategies, and prognosis of ethylmalonic encephalopathy (EE) caused by the c.586G>A mutation in the ETHE1 gene. Methods: Detailed clinical data from two confirmed familial cases of EE carrying the c.586G>A mutation in the ETHE1 gene were collected and analyzed. A comprehensive review of the literature was conducted to summarize the clinical and genetic features. Results: The proband is a 22-year-old male with a homozygous c.586G>A mutation in the ETHE1 gene, with both parents being heterozygous carriers of the mutation, confirmed as consanguineous. His younger brother also carries the same homozygous mutation. The disease was successfully diagnosed through genetic testing and urine analysis. Conclusion: The c.586G>A mutation in the ETHE1 gene is directly linked to EE. Genetic testing provides valuable support for the diagnosis and treatment of EE. Furthermore, the study underscores the genetic implications of consanguineous marriages and the hereditary susceptibility to EE within the family, which is crucial for early identification, proper management, and genetic counseling.展开更多
Poly (EA-MAn-APTES)/silica hybrid materials were successfully prepared fromEthyl acrylate (EA), maleic anhydride (MAn) and tetraethoxysilane (TEOS) in the presence of acoupling agent 3-aminopropyltriethoxysilane (APTE...Poly (EA-MAn-APTES)/silica hybrid materials were successfully prepared fromEthyl acrylate (EA), maleic anhydride (MAn) and tetraethoxysilane (TEOS) in the presence of acoupling agent 3-aminopropyltriethoxysilane (APTES),by free-radical solution polymerization and insitu sol-gel process. The mass fraction of TEOS varied from 0 to 25%. The hybrid materials werecharacterized by the methods of FT-IR spectra, solvent extraction, scanning electron microscope (SEM), transmission electron microscope (TEM), differential scanning calorimetry (DSC) andthermogravimetric analysis (TGA) measuring apparatus to get their structures, gel contents,morphologies, particle sizes and thermal performances. The results show that the covalent bonds arebetween organic and inorganic phases, gel contents in the hybrid materials are much higher, theSiO_2 phase is well dispersed in the polymer matrix, silicon dioxide exist at nanoscale in thecomposites and have excellent thermal stability.展开更多
As a novel collector, O-isopropyl-N,N-diethyl thionocarbamate(IPDTC) was designed and synthesized for copper-sulfur flotation separation. Density functional theory calculations were performed to investigate the electr...As a novel collector, O-isopropyl-N,N-diethyl thionocarbamate(IPDTC) was designed and synthesized for copper-sulfur flotation separation. Density functional theory calculations were performed to investigate the electronic structures of IPDTC. The results showed that IPDTC had higher energy of the highest occupied molecular orbital but lower electronegativity than O-isopropyl-N-ethyl thionocarbamate(Z-200). It was predicted that IPDTC had strong collection ability according to the reaction energy criteria. Flotation results demonstrated that the collecting ability of IPDTC to chalcopyrite and pyrite was stronger than that of Z-200. Then, the flotation mechanism was analyzed by measurements of surface tension, adsorption capacity, XPS, FTIR and zeta potential. These results indicated that IPDTC could reduce the solution surface tension. The adsorption capacity of IPDTC on chalcopyrite was higher than that on pyrite, consistent with the results of the flotation tests. FTIR, zeta potential and XPS results also demonstrated that IPDTC was strongly absorbed on the chalcopyrite surface by formation of Cu—S—C bonds, but showed a weak affinity on the pyrite surface.展开更多
Ethyl acetamidomalonate was alkylated using three alkylating agents, both by microtwave irradiation of a mixture of the malonate,the alkylating agent, potassium carbonate,TEBA,and DMF for 0.5 to 1.5 min and by heating...Ethyl acetamidomalonate was alkylated using three alkylating agents, both by microtwave irradiation of a mixture of the malonate,the alkylating agent, potassium carbonate,TEBA,and DMF for 0.5 to 1.5 min and by heating a solution of the malonate, sodium ethoxide, and the alkylatlng agent in ethanol for several hours. The two metlmds gave comparable results.展开更多
The photocycloaddition of (4-methyl-7-coumarinyl) oxyacetic acid propanediol diester 1 (C_27H_24O_10) in chloroform produced a single product 2 characterized to be syn head-tail. Crystal structure of 2 has been determ...The photocycloaddition of (4-methyl-7-coumarinyl) oxyacetic acid propanediol diester 1 (C_27H_24O_10) in chloroform produced a single product 2 characterized to be syn head-tail. Crystal structure of 2 has been determined by X-ray diffraction analysis. The crystal belongs to orthorhombic system, space group Pbca, with cell parameters a=10. 745(5), b= 13. 443(4), c=33. 358(9) A, V=4791 (5) A￣3, M_r=508. 49,Z= 8, D_c=1. 41 g/cm￣3, μ= 1. 015 cm￣-1, F(000)=1064. The final R=0. 065 for 1587 observed reflections. Compound 2 has a large ring resulted from [2+2] photocycloaddition. The four-member ring of 2 has poor coplanarity, the two diagonal atoms of four-member ring are above the least-squares plane, and another diagonal atom couple is below the least-squares plane, the deviations of two couples are approximately equal.展开更多
Molecularly imprinted polymers(MIPs)for solid-phase extraction and pre-concentration of esculetin have been successfully prepared by the bulk polymerization method using esculetin as a template molecule.Polymers of va...Molecularly imprinted polymers(MIPs)for solid-phase extraction and pre-concentration of esculetin have been successfully prepared by the bulk polymerization method using esculetin as a template molecule.Polymers of varying composition were prepared using different monomers(4-vinylpyridine,methacrylic acid,and acrylamide),ethylene glycol dimethacrylate as the cross-linker,2,2-azobis(2-methylpropinitrile)as the initiator,and different porogen solvents(ethanol,acetone/methanol,and acetonitrile).The best polymer was obtained when 4-vinylpyridine was used as the monomer and acetone/methanol(3:2)as the porogen solvent,whereas the template:-monomer:-cross-linker ratio was 1:4:20.The imprinting factor of the selected MIPs for esculetin was 3.77.The polymers were evaluated according to their selective recognition properties for esculetin and structurally-related compounds(esculin,scopoletin,coumarin,and 7-methoxycoumarin).Chemical and morphological characterizations of the polymers were investigated by FTIR and scanning electron microscope,which confirmed a high degree of polymerization.Surface area,pore volume,and pore size of the polymer were investigated by Brunauer-Emmett-Teller analysis.MIPs were also successfully used as solid-phase adsorbent materials for the extraction of esculetin from tobacco leaves.Esculetin contents in dried tobacco leaves were found to be(9.27±0.17)μg g-1.展开更多
文摘目的:本研究旨在探讨ETHE1基因突变c.586G>A引起的乙基丙二酸脑病(EE)的临床表现、影像学、基因突变特性、诊断方法、治疗策略及预后。方法:收集并分析两例确诊携带ETHE1基因突变c.586G>A的EE家系的详尽临床资料,结合文献复习,总结其临床和遗传学特点。结果:先证者是一名22岁的男性,携带ETHE1基因的c.586G>A纯合突变,其父母均为该基因突变的杂合携带者,且确认为近亲结婚。其弟弟也同样携带该基因的纯合突变。通过基因检测和尿液分析,我们成功确诊了该疾病。结论:确认ETHE1基因突变c.586G>A与EE的直接联系。基因检测为EE的诊断和治疗提供宝贵的辅助信息,同时明确近亲结婚的遗传影响以及家系中EE的遗传易感性,对于早期识别、适当管理和家族遗传咨询至关重要。Objective: This study aims to explore the clinical manifestations, imaging findings, genetic mutation characteristics, diagnostic methods, treatment strategies, and prognosis of ethylmalonic encephalopathy (EE) caused by the c.586G>A mutation in the ETHE1 gene. Methods: Detailed clinical data from two confirmed familial cases of EE carrying the c.586G>A mutation in the ETHE1 gene were collected and analyzed. A comprehensive review of the literature was conducted to summarize the clinical and genetic features. Results: The proband is a 22-year-old male with a homozygous c.586G>A mutation in the ETHE1 gene, with both parents being heterozygous carriers of the mutation, confirmed as consanguineous. His younger brother also carries the same homozygous mutation. The disease was successfully diagnosed through genetic testing and urine analysis. Conclusion: The c.586G>A mutation in the ETHE1 gene is directly linked to EE. Genetic testing provides valuable support for the diagnosis and treatment of EE. Furthermore, the study underscores the genetic implications of consanguineous marriages and the hereditary susceptibility to EE within the family, which is crucial for early identification, proper management, and genetic counseling.
文摘Poly (EA-MAn-APTES)/silica hybrid materials were successfully prepared fromEthyl acrylate (EA), maleic anhydride (MAn) and tetraethoxysilane (TEOS) in the presence of acoupling agent 3-aminopropyltriethoxysilane (APTES),by free-radical solution polymerization and insitu sol-gel process. The mass fraction of TEOS varied from 0 to 25%. The hybrid materials werecharacterized by the methods of FT-IR spectra, solvent extraction, scanning electron microscope (SEM), transmission electron microscope (TEM), differential scanning calorimetry (DSC) andthermogravimetric analysis (TGA) measuring apparatus to get their structures, gel contents,morphologies, particle sizes and thermal performances. The results show that the covalent bonds arebetween organic and inorganic phases, gel contents in the hybrid materials are much higher, theSiO_2 phase is well dispersed in the polymer matrix, silicon dioxide exist at nanoscale in thecomposites and have excellent thermal stability.
基金financial supports from the Open Foundation of State Key Laboratory of Mineral Processing,China (Nos.BGRIMM-KJSKL-2019-06,BGRIMMKJSKL-2022-13)the Open Fund of State Key Laboratory of Comprehensive Utilization of Low-Grade,China (No.ZJKY2017(B)KFJJ003)。
文摘As a novel collector, O-isopropyl-N,N-diethyl thionocarbamate(IPDTC) was designed and synthesized for copper-sulfur flotation separation. Density functional theory calculations were performed to investigate the electronic structures of IPDTC. The results showed that IPDTC had higher energy of the highest occupied molecular orbital but lower electronegativity than O-isopropyl-N-ethyl thionocarbamate(Z-200). It was predicted that IPDTC had strong collection ability according to the reaction energy criteria. Flotation results demonstrated that the collecting ability of IPDTC to chalcopyrite and pyrite was stronger than that of Z-200. Then, the flotation mechanism was analyzed by measurements of surface tension, adsorption capacity, XPS, FTIR and zeta potential. These results indicated that IPDTC could reduce the solution surface tension. The adsorption capacity of IPDTC on chalcopyrite was higher than that on pyrite, consistent with the results of the flotation tests. FTIR, zeta potential and XPS results also demonstrated that IPDTC was strongly absorbed on the chalcopyrite surface by formation of Cu—S—C bonds, but showed a weak affinity on the pyrite surface.
文摘Ethyl acetamidomalonate was alkylated using three alkylating agents, both by microtwave irradiation of a mixture of the malonate,the alkylating agent, potassium carbonate,TEBA,and DMF for 0.5 to 1.5 min and by heating a solution of the malonate, sodium ethoxide, and the alkylatlng agent in ethanol for several hours. The two metlmds gave comparable results.
文摘The photocycloaddition of (4-methyl-7-coumarinyl) oxyacetic acid propanediol diester 1 (C_27H_24O_10) in chloroform produced a single product 2 characterized to be syn head-tail. Crystal structure of 2 has been determined by X-ray diffraction analysis. The crystal belongs to orthorhombic system, space group Pbca, with cell parameters a=10. 745(5), b= 13. 443(4), c=33. 358(9) A, V=4791 (5) A￣3, M_r=508. 49,Z= 8, D_c=1. 41 g/cm￣3, μ= 1. 015 cm￣-1, F(000)=1064. The final R=0. 065 for 1587 observed reflections. Compound 2 has a large ring resulted from [2+2] photocycloaddition. The four-member ring of 2 has poor coplanarity, the two diagonal atoms of four-member ring are above the least-squares plane, and another diagonal atom couple is below the least-squares plane, the deviations of two couples are approximately equal.
基金supported by the Yunnan Green Tobacco Production Research(2011YN01)the China Equipment and Education Resources System(CERS-1-75)
文摘Molecularly imprinted polymers(MIPs)for solid-phase extraction and pre-concentration of esculetin have been successfully prepared by the bulk polymerization method using esculetin as a template molecule.Polymers of varying composition were prepared using different monomers(4-vinylpyridine,methacrylic acid,and acrylamide),ethylene glycol dimethacrylate as the cross-linker,2,2-azobis(2-methylpropinitrile)as the initiator,and different porogen solvents(ethanol,acetone/methanol,and acetonitrile).The best polymer was obtained when 4-vinylpyridine was used as the monomer and acetone/methanol(3:2)as the porogen solvent,whereas the template:-monomer:-cross-linker ratio was 1:4:20.The imprinting factor of the selected MIPs for esculetin was 3.77.The polymers were evaluated according to their selective recognition properties for esculetin and structurally-related compounds(esculin,scopoletin,coumarin,and 7-methoxycoumarin).Chemical and morphological characterizations of the polymers were investigated by FTIR and scanning electron microscope,which confirmed a high degree of polymerization.Surface area,pore volume,and pore size of the polymer were investigated by Brunauer-Emmett-Teller analysis.MIPs were also successfully used as solid-phase adsorbent materials for the extraction of esculetin from tobacco leaves.Esculetin contents in dried tobacco leaves were found to be(9.27±0.17)μg g-1.
