AIM: To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy（BCD） and to provide clinical features of these patients. BCD is a rare monogenic autosomal rece...AIM: To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy（BCD） and to provide clinical features of these patients. BCD is a rare monogenic autosomal recessively inherited disorder characterized by the presence of crystals in the retina and retinal pigment epithelium atrophy. Mutations in the CYP4V2 gene have been found to be causative for BCD.METHODS: Ophthalmic examinations were carried out in the affected individuals. Peripheral blood samples were collected and genomic DNA was extracted. All exons and flanking intronic regions of the CYP4V2 gene were amplified with polymerase chain reaction and screened for mutations by direct DNA sequencing. One hundred control chromosomes were also screened to exclude nonpathogenic polymorphisms.RESULTS: Fundus examination revealed the presence of tiny yellowish-sparkling crystals at the posterior pole of the fundus and atrophy of the retinal pigment epithelium in all patients. Choroid neovascularization was noted in one patient. Five different CYP4V2 mutations were identified, including two missense mutations（p.F73 L,p.R400H）, two splice site mutations（c.802-8810del17ins GC, c.1091-2A 】G）, and one single base-pair deletion（p.T479 Tfs X7 or c.1437 del C）. The two splice site mutations were identified in three of the patients with BCD. Mutation p.T479 Tfs X7 was a novel mutation not observed in any of 100 ethnically matched control chromosomes.CONCLUSION: Mutation c.802-8810del17ins GC and c.1091-2A】G are common mutations in Chinese patientswith BCD. Our results expand the allelic heterogeneity of BCD.展开更多
Objective:To evaluate the clinical efficacy of warming acupuncture combined with joint mobilization for the treatment of scapulohumeral periarthritis.Methods:A search for published randomized controlled trials(RCT)inv...Objective:To evaluate the clinical efficacy of warming acupuncture combined with joint mobilization for the treatment of scapulohumeral periarthritis.Methods:A search for published randomized controlled trials(RCT)investigating warming acupuncture combined with joint mobilization for the treatment of scapulohumeral periarthritis was performed using the Cochrane Library,PubMed,Embase,and Web of Science databases.According to requirements of the Cochrane systematic review,all evaluations of RCT investigating warming acupuncture with joint mobilization in the treatment of scapulohumeral periarthritis were performed via method quality assessment,data extraction,and data analysis.Revman 5.3 and Stata 12.0 statistical software were used for the meta-analysis,and the trial sequential analysis(TSA)software estimated the required information size for each outcome.Results:A total of 14 articles were retrieved for meta-analysis,which included 551 cases in the treatment group and 539 cases in the control group.Meta-analysis showed that:(1)warming acupuncture combined with joint mobilization improved total efficiency[OR=6.16,95%CI(3.79,10.00),Z=7.34;P<0.001),TSA results confirmed the results of the meta-analysis;(2)warming acupuncture combined with joint mobilization improved the cure rate[OR=2.84,95%CI(2.19,3.70),P<0.001],TSA results revealed that no further tests were needed to verify;(3)warming acupuncture combined with joint mobilization reduced the number of treatments required for healing[MD=-7.49,95%CI(-9.75,-5.23),P<0.001],TSA results confirmed the results of the meta-analysis;(4)in comparing visual analog scale scores before and after treatment,meta-analysis result showed that:SMD=-2.01,95%CI(-2.37,-1.65),P<0.001,the difference was statistically significant,TSA results confirmed the results of the meta-analysis.Conclusion:Warming acupuncture combined with joint mobilization had a significant effect on the treatment of scapulohumeral periarthritis.展开更多
Recently, kilometer-scale Martian ionospheric irregularities have been measured by the Mars Atmosphere and Volatile EvolutioN(MAVEN) mission(Fowler et al., 2020). In this study, we carried out a simulation of these ir...Recently, kilometer-scale Martian ionospheric irregularities have been measured by the Mars Atmosphere and Volatile EvolutioN(MAVEN) mission(Fowler et al., 2020). In this study, we carried out a simulation of these irregularities, assuming a uniform Martian zonal neutral wind and a cosinusoidal perturbation of the plasma density as the seeding source. Results show that a vertical electric field shear could be induced by such a plasma density perturbation. We find that the vertical electric field shear causes a velocity shear of the plasma between the topside and bottomside ionosphere, which in turn is able to produce kilometer-scale ionospheric irregularities — irregularities of a smaller scale than were seen in previous simulations(Jiang CH et al., 2021). These kilometer-scale variations with altitude, in plasma density and magnetic field profiles, are comparable to the MAVEN observations.展开更多
Helium ion beam(HIB)technology plays an important role in the extreme fields of nanofabrication.This paper reviews the latest developments in HIB technology as well as its extreme processing capabilities and widesprea...Helium ion beam(HIB)technology plays an important role in the extreme fields of nanofabrication.This paper reviews the latest developments in HIB technology as well as its extreme processing capabilities and widespread applications in nanofabrication.HIB-based nanofabrication includes direct-write milling,ion beam-induced deposition,and direct-write lithography without resist assistance.HIB nanoscale applications have also been evaluated in the areas of integrated circuits,materials sciences,nano-optics,and biological sciences.This review covers four thematic applications of HIB:(1)helium ion microscopy imaging for biological samples and semiconductors;(2)HIB milling and swelling for 2D/3D nanopore fabrication;(3)HIB-induced deposition for nanopillars,nanowires,and 3D nanostructures;(4)additional HIB direct writing for resist,graphene,and plasmonic nanostructures.This paper concludes with a summary of potential future applications and areas of improvement for HIB extreme nanofabrication technology.展开更多
Difluorocarbene has emerged as a valuable intermediate to synthesize fluorides.However,difluorocarbene-derived synthesis of^(19)F/^(18)F-trifluoromethyl triazoles has not been explored.Herein,we reported the Cu(I)-pro...Difluorocarbene has emerged as a valuable intermediate to synthesize fluorides.However,difluorocarbene-derived synthesis of^(19)F/^(18)F-trifluoromethyl triazoles has not been explored.Herein,we reported the Cu(I)-promoted difluorocarbene-derived^(19)F/^(18)F-trifluoromethylation of iodotriazoles using KF/K^(18)F as the fluorine source.This approach rapidly generated a wide range of 5-trifluoromethyl-1,2,3-triazoles in good yields showing high functional group compatibility.The reaction was effective for late-stage functionalization of bioactive molecules and^(18)F-trifluoromethylation of iodotriazoles.This work provides a practical synthetic methodology for the development of triazole drugs and^(18)F-radiotracers for positron emission tomography.展开更多
Xylan is the most abundant hemicellulose in nature. As a new type of green organic solvent, ionic liquid shows good preservation ability for the functional groups of hemicellulose. In this paper, a single molecule det...Xylan is the most abundant hemicellulose in nature. As a new type of green organic solvent, ionic liquid shows good preservation ability for the functional groups of hemicellulose. In this paper, a single molecule detection technology based on glass nanopore was established to analyze xylan dissolved in ionic liquid. Arabino-xylan (AX) and beech xylan (BX) are respectively taken as the representatives of heterogeneous xylan and homogeneous xylan. Firstly, unmodified glass nanopore was used to detect the dissolved xylan in ionic liquid, and then poly(ethylene imine) (PEI) was used to modify the nanopore to change the surface charge in the nanopore and further enhance the interaction between the nanopore and the xylan molecule. It was found that before and after nanopore modification, at negative voltage and low positive voltage, AX didn't generate current blocking signal. On the contrary, BX didn't generate current blocking signal at positive voltage. This phenomenon may be due to the current disturbance driven by electrophoresis and electroosmosis of xylan molecules with weak negative charge. After statistics analysis, the current blocking signal of AX showed that the modified nanopore showed multiple peaks. It indicates that heterogeneous xylan and PEI modified nanopore had stronger interaction. The results show that the nanopore detection technology can show the structural difference of heterogenous branched chain and homogeneous straight chain based on the single characteristic current blocking signal and statistical information, providing a research basis for the structural analysis of water insoluble polysaccharides.展开更多
A piezoelectric planar transducer with high sensitivity is designed and fabricated.The transducer sensing element is an improvement of the 1-3-2 type piezoelectric composite structure,the piezoelectric ceramic column ...A piezoelectric planar transducer with high sensitivity is designed and fabricated.The transducer sensing element is an improvement of the 1-3-2 type piezoelectric composite structure,the piezoelectric ceramic column array with a substrate is not injected with polymer,and the upper surface is directly covered with a metal plate,the improved structure of“piezoelectric column array with substrate+metal cover plate”sensitive element(called“Air filled”sensitive element)is formed.The resonant frequency of the“Air filled”transducer is calculated theoretically and simulated by the finite element method,which is in good agreement with the measured result.In order to compare the performances,the transducer with the structure of“1-3-2 type piezoelectric composite+metal cover plate”(called“Polymer filled”transducer)is made.The effective electromechanical coupling coefficient,transmitting voltage response and receiving sensitivity of“Air filled”and“Polymer filled”transducers are simulated and measured respectively.The“Air filled”transducer has a higher receiving sensitivity,which can be increased by 21 dB compared with the“Polymer filled”transducer.The transducer can effectively improve the sensitivity,which can provide a reference for the development of high-sensitivity transducer.展开更多
In this Letter, we propose a broadband near-infrared(NIR) absorber based on the phase transition material VO2.By designing different arrangements of the VO2 square lattice at high and low temperatures on fused silica ...In this Letter, we propose a broadband near-infrared(NIR) absorber based on the phase transition material VO2.By designing different arrangements of the VO2 square lattice at high and low temperatures on fused silica substrates, the absorption rate reaches more than 90% in the entire 1.4–2.4 μm range. Using a finite-difference time-domain simulation method and thermal field analysis, the results prove that the absorber is polarizationindependent and has wide-angle absorption for incident angles of 0°–70°. The proposed absorber has a smoother absorption curve and is superior in performance, and it has many application prospects in remote sensing geology.展开更多
文摘AIM: To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy（BCD） and to provide clinical features of these patients. BCD is a rare monogenic autosomal recessively inherited disorder characterized by the presence of crystals in the retina and retinal pigment epithelium atrophy. Mutations in the CYP4V2 gene have been found to be causative for BCD.METHODS: Ophthalmic examinations were carried out in the affected individuals. Peripheral blood samples were collected and genomic DNA was extracted. All exons and flanking intronic regions of the CYP4V2 gene were amplified with polymerase chain reaction and screened for mutations by direct DNA sequencing. One hundred control chromosomes were also screened to exclude nonpathogenic polymorphisms.RESULTS: Fundus examination revealed the presence of tiny yellowish-sparkling crystals at the posterior pole of the fundus and atrophy of the retinal pigment epithelium in all patients. Choroid neovascularization was noted in one patient. Five different CYP4V2 mutations were identified, including two missense mutations（p.F73 L,p.R400H）, two splice site mutations（c.802-8810del17ins GC, c.1091-2A 】G）, and one single base-pair deletion（p.T479 Tfs X7 or c.1437 del C）. The two splice site mutations were identified in three of the patients with BCD. Mutation p.T479 Tfs X7 was a novel mutation not observed in any of 100 ethnically matched control chromosomes.CONCLUSION: Mutation c.802-8810del17ins GC and c.1091-2A】G are common mutations in Chinese patientswith BCD. Our results expand the allelic heterogeneity of BCD.
文摘Objective:To evaluate the clinical efficacy of warming acupuncture combined with joint mobilization for the treatment of scapulohumeral periarthritis.Methods:A search for published randomized controlled trials(RCT)investigating warming acupuncture combined with joint mobilization for the treatment of scapulohumeral periarthritis was performed using the Cochrane Library,PubMed,Embase,and Web of Science databases.According to requirements of the Cochrane systematic review,all evaluations of RCT investigating warming acupuncture with joint mobilization in the treatment of scapulohumeral periarthritis were performed via method quality assessment,data extraction,and data analysis.Revman 5.3 and Stata 12.0 statistical software were used for the meta-analysis,and the trial sequential analysis(TSA)software estimated the required information size for each outcome.Results:A total of 14 articles were retrieved for meta-analysis,which included 551 cases in the treatment group and 539 cases in the control group.Meta-analysis showed that:(1)warming acupuncture combined with joint mobilization improved total efficiency[OR=6.16,95%CI(3.79,10.00),Z=7.34;P<0.001),TSA results confirmed the results of the meta-analysis;(2)warming acupuncture combined with joint mobilization improved the cure rate[OR=2.84,95%CI(2.19,3.70),P<0.001],TSA results revealed that no further tests were needed to verify;(3)warming acupuncture combined with joint mobilization reduced the number of treatments required for healing[MD=-7.49,95%CI(-9.75,-5.23),P<0.001],TSA results confirmed the results of the meta-analysis;(4)in comparing visual analog scale scores before and after treatment,meta-analysis result showed that:SMD=-2.01,95%CI(-2.37,-1.65),P<0.001,the difference was statistically significant,TSA results confirmed the results of the meta-analysis.Conclusion:Warming acupuncture combined with joint mobilization had a significant effect on the treatment of scapulohumeral periarthritis.
基金supported by the National Natural Science Foundation of China(NSFC No.42074184 and No.41727804)。
文摘Recently, kilometer-scale Martian ionospheric irregularities have been measured by the Mars Atmosphere and Volatile EvolutioN(MAVEN) mission(Fowler et al., 2020). In this study, we carried out a simulation of these irregularities, assuming a uniform Martian zonal neutral wind and a cosinusoidal perturbation of the plasma density as the seeding source. Results show that a vertical electric field shear could be induced by such a plasma density perturbation. We find that the vertical electric field shear causes a velocity shear of the plasma between the topside and bottomside ionosphere, which in turn is able to produce kilometer-scale ionospheric irregularities — irregularities of a smaller scale than were seen in previous simulations(Jiang CH et al., 2021). These kilometer-scale variations with altitude, in plasma density and magnetic field profiles, are comparable to the MAVEN observations.
基金supported by research funding from Natural Science Foundation of Chongqing,China(Grant No.cstc2018jcyjAX0310,cstc2017jcyjB0105,cstc2018jcyjAX0304)National Natural Science Foundation of China(Grant Nos.61701474,31800711)+1 种基金Instrument development program of CAS(YZ201568)Pioneer Hundred Talents Program of CAS(Liang Wang)and Youth Innovation Promotion Association of the Chinese Academy of Sciences(2017392).
文摘Helium ion beam(HIB)technology plays an important role in the extreme fields of nanofabrication.This paper reviews the latest developments in HIB technology as well as its extreme processing capabilities and widespread applications in nanofabrication.HIB-based nanofabrication includes direct-write milling,ion beam-induced deposition,and direct-write lithography without resist assistance.HIB nanoscale applications have also been evaluated in the areas of integrated circuits,materials sciences,nano-optics,and biological sciences.This review covers four thematic applications of HIB:(1)helium ion microscopy imaging for biological samples and semiconductors;(2)HIB milling and swelling for 2D/3D nanopore fabrication;(3)HIB-induced deposition for nanopillars,nanowires,and 3D nanostructures;(4)additional HIB direct writing for resist,graphene,and plasmonic nanostructures.This paper concludes with a summary of potential future applications and areas of improvement for HIB extreme nanofabrication technology.
基金financially supported by the National Natural Science Foundation of China(Nos.21977075,22271200,21801178,21907070,81971653)1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University,Central Plains Science and Technology Innovation Leader Project(No.214200510008 to L.Li)Scientific and Technological Innovation Team of Colleges and Universities in Henan Province(No.21IRTSTHN001)。
文摘Difluorocarbene has emerged as a valuable intermediate to synthesize fluorides.However,difluorocarbene-derived synthesis of^(19)F/^(18)F-trifluoromethyl triazoles has not been explored.Herein,we reported the Cu(I)-promoted difluorocarbene-derived^(19)F/^(18)F-trifluoromethylation of iodotriazoles using KF/K^(18)F as the fluorine source.This approach rapidly generated a wide range of 5-trifluoromethyl-1,2,3-triazoles in good yields showing high functional group compatibility.The reaction was effective for late-stage functionalization of bioactive molecules and^(18)F-trifluoromethylation of iodotriazoles.This work provides a practical synthetic methodology for the development of triazole drugs and^(18)F-radiotracers for positron emission tomography.
基金financially supported by the Key Project of Technological Innovation and Application Development of Chongqing(cstc2021jscx-dxwtBx0002)West Light Foundation of the Chinese Academy of Sciences(Grant No.E0296105).
文摘Xylan is the most abundant hemicellulose in nature. As a new type of green organic solvent, ionic liquid shows good preservation ability for the functional groups of hemicellulose. In this paper, a single molecule detection technology based on glass nanopore was established to analyze xylan dissolved in ionic liquid. Arabino-xylan (AX) and beech xylan (BX) are respectively taken as the representatives of heterogeneous xylan and homogeneous xylan. Firstly, unmodified glass nanopore was used to detect the dissolved xylan in ionic liquid, and then poly(ethylene imine) (PEI) was used to modify the nanopore to change the surface charge in the nanopore and further enhance the interaction between the nanopore and the xylan molecule. It was found that before and after nanopore modification, at negative voltage and low positive voltage, AX didn't generate current blocking signal. On the contrary, BX didn't generate current blocking signal at positive voltage. This phenomenon may be due to the current disturbance driven by electrophoresis and electroosmosis of xylan molecules with weak negative charge. After statistics analysis, the current blocking signal of AX showed that the modified nanopore showed multiple peaks. It indicates that heterogeneous xylan and PEI modified nanopore had stronger interaction. The results show that the nanopore detection technology can show the structural difference of heterogenous branched chain and homogeneous straight chain based on the single characteristic current blocking signal and statistical information, providing a research basis for the structural analysis of water insoluble polysaccharides.
基金supported by the National Natural Science Foundation of China(61771060)the Key Scientific and Technological Projects of Scientific Research Program of Beijing Municipal Education Commission(KZ202111232050)。
文摘A piezoelectric planar transducer with high sensitivity is designed and fabricated.The transducer sensing element is an improvement of the 1-3-2 type piezoelectric composite structure,the piezoelectric ceramic column array with a substrate is not injected with polymer,and the upper surface is directly covered with a metal plate,the improved structure of“piezoelectric column array with substrate+metal cover plate”sensitive element(called“Air filled”sensitive element)is formed.The resonant frequency of the“Air filled”transducer is calculated theoretically and simulated by the finite element method,which is in good agreement with the measured result.In order to compare the performances,the transducer with the structure of“1-3-2 type piezoelectric composite+metal cover plate”(called“Polymer filled”transducer)is made.The effective electromechanical coupling coefficient,transmitting voltage response and receiving sensitivity of“Air filled”and“Polymer filled”transducers are simulated and measured respectively.The“Air filled”transducer has a higher receiving sensitivity,which can be increased by 21 dB compared with the“Polymer filled”transducer.The transducer can effectively improve the sensitivity,which can provide a reference for the development of high-sensitivity transducer.
基金the National High Technology Research and Development Program of China(No. 2006AA03Z348)the Foundation for Key Program of Ministry of Education,China (No. 207033)+1 种基金the Key Science and Technology Research Project of Shanghai Committee,China (No. 10ZZ94)the Shanghai Talent Leading Plan,China (No. 2011-026)。
文摘In this Letter, we propose a broadband near-infrared(NIR) absorber based on the phase transition material VO2.By designing different arrangements of the VO2 square lattice at high and low temperatures on fused silica substrates, the absorption rate reaches more than 90% in the entire 1.4–2.4 μm range. Using a finite-difference time-domain simulation method and thermal field analysis, the results prove that the absorber is polarizationindependent and has wide-angle absorption for incident angles of 0°–70°. The proposed absorber has a smoother absorption curve and is superior in performance, and it has many application prospects in remote sensing geology.
