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A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization

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International Journal of Ophthalmology(English edition) 2022年第6期15卷 940-946页

作者： Xin-Yao Han Lin-Qi Zhang Ji-Yang Tang Lyu-Zhen Huang Ran Tang jin-feng qu Department of Ophthalmology Peking University People’s HospitalEye Diseases and Optometry InstituteBeijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid DiseasesCollege of OptometryPeking University Health Science CenterBeijing 100044China

AIM: To investigate the clinical characteristics and genetic features of a Bietti crystalline dystrophy(BCD) proband in a Chinese family.METHODS: A Chinese female diagnosed with BCD complicated by bilateral choroidal neovascularization(CNV) and her parents underwent complete ophthalmic examinations, including fundus autofluorescence(AF), fundus photography(FP), fundus fluorescein angiography(FFA), visual field testing, full-field electroretinography(ERG), optical coherence tomography(OCT) and optical coherence tomography angiography(OCTA). The sequencing of the CYP4 V2 gene was performed to the whole family.RESULTS: Bilateral tiny glittering crystal-like deposits and differing extent of atrophy of the retinal pigment epithelium(RPE) were found in the posterior pole of her fundus. The diffuse hypo-fluorescence shown on AF images and window defects shown on FFA both indicated the atrophy of the RPE and choriocapillaris. OCT showed the thinning of the RPE and choriocapillaris layer, ellipsoid zone(EZ) band defect and CNV in both eyes. OCTA images proofed bilateral type 2 CNV. The visual field test showed central and paracentral scotoma. ERG showed a slightly decreased b-wave in scotopic ERG. Gene sequencing identified three mutations of the CYP4 V2 gene, c.802_807 del, c.810 del T, and c.1388 G>A. The mutation c.1388 G>A was a novel substitution mutation.CONCLUSION: The novel mutation c.1388 G>A may be a possible cause that could induce the clinical phenotype of BCD.

关键词： Bietti crystalline dystrophy retinal degeneration CYP4V2 gene choroidal neovascularization

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Comparison of 24×20 mm^(2) swept-source OCTA and fluorescein angiography for the evaluation of lesions in diabetic retinopathy

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International Journal of Ophthalmology(English edition) 2022年第11期15卷 1798-1805页

作者： Qiao-Zhu Zeng Si-Ying Li Yu-Ou Yao En-Zhong jin jin-feng qu Ming-Wei Zhao Department of Ophthalmology Eye Diseases and Optometry InstitutePeking University People's HospitalBeijing 100044China Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases College of OptometryPeking University Health Science CenterBeijing 100044China

AIM: To compare ultra-widefield(24×20 mm^(2)) sweptsource optical coherence tomography angiography(SSOCTA) and fluorescein angiography(FA) in the evaluation of diabetic retinopathy(DR) lesions. METHODS: Forty-six eyes of 23 patients with treatmentna?ve DR were included at Peking University People’s Hospital from September 1, 2021, until December 31, 2021, as well as 23 age and gender matched healthy controls. quantitative assessments of DR lesions on FA and SS-OCTA(superficial capillary plexus, SCP, 24×20 mm^(2)) were performed.RESULTS: Area of fovea avascular zone(FAZ) was larger in DR cases than controls(0.34±0.069 mm^(2) vs 0.287±0.108 mm^(2), P=0.006). In DR eyes, the mean FAZ area was 0.34±0.069 and 0.334±0.087 mm^(2) on SS-OCTA and FA, respectively(P=0.428), while the median FAZ perimeter was 2.382(IQR, 2.201-2.59) and 2.333(IQR, 2.138-2.6) mm on SS-OCTA and FA images(P=0.733). There was no significant difference in the size of the non-perfusion area(NPA) between the images on SS-OCTA and FA(12.389, IQR 4.96-28.3 and 11.125, IQR 5-28.31 mm^(2), P=0.197). The median total microaneurysm(MA) count was 35(IQR, 19-46) and 73(IQR, 43-93) on SS-OCTA and FA(Pques. The intraclass coefficient(ICCs) of all the parameters above indicated stable repeatability.CONCLUSION: Ultra-widefield SS-OCTA represents a reliable, noninvasive, and quantitative imaging technique in the assessment of microvasculature in DR, which offers a potential substitute for FA in DR evaluation.

关键词： ultra-widefield swept-source optical coherence tomography angiography fluorescein angiography comparison diabetic retinopathy

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Comparison of the 1-year Outcomes of Conbercept Therapy between Two Different Angiographic Subtypes of Polypoidal Choroidal Vasculopathy

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Chinese Medical Journal 2016年第21期129卷 2610-2616页

作者： Yong Cheng Xuan Shi jin-feng qu Ming-Wei Zhao Xiao-Xin Li Department of Ophthalmology Peking University People's Hospital Beijing 100044 China Key Laboratory of Vision Loss and Restoration Ministry of Education Beijing 100044 China Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases Beijing 100044 China

Background：Polypoidal choroidal vasculopathy （PCV） is characterized by the presence of polyps with or without a branching vascular network and more prevalent among Asians.The aim of this study was to compare the outcomes of conbercept therapy between two different angiographic subtypes of PCV.Methods：Fifty-eight patients of PCV were classified into two phenotypes according to indocyanine green angiography （ICGA）.In Type 1,both feeder and draining vessels are visible on ICGA and network vessels are numerous.In Type 2,neither feeder nor draining vessels are detectable,and the number of network vessels is small.The patients were treated with intravitreal conbercept （IVC） for 3 months.Additional 1VC was given at subsequent monthly visits,if needed.The patients were followed up for 12 months,and changes in mean best-corrected visual acuity （BCVA）,central retinal thickness （CRT）,subretinal fluid （SRF） thickness,pigmented epithelial detachment （PED）,hemorrhage,and number of polypoidal lesions were evaluated.Results：The mean BCVA in Type 2 PCV （15.92 ± 9.76 letters） achieved a significantly greater improvement than that in the Type 1 （14.10± 9.07 letters） at month 12 （t=2.37,P〈 0.01）.Moreover,the mean CRTdecrease was numerically greater in Type 2 （120.44± 73.81μm） compared with Type 1 （106.48 ± 72.33 μm） at month 6 （t =4.31,P 〈 0.01）,and greater in Type 2 （130.21 ± 76.28 μm） compared with Type 1 （111.67 ± 79.57μm） at month 9 （t =1.87,P 〈 0.0l）.There was no significant difference between the two types for the decrease in SRF thickness,PED height,and regression of polyps from month 3 to 12 （t =2.97,P〉 0.05）.Conclusion：Classification systems for PCV will show differences in presentation,natural history,or response to anti-vascular endothelial growth factor treatment and might,therefore,provide a new key to the choice of treatment for the disease.

关键词： Angiographic Subtypes Anti-vascular Endothelial Growth Factor Conbercept Polypoidal Choroidal Vasculopathy

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Association between endogenous cortisol level and the risk of central serous chorioretinopathy:a Meta-analysis

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International Journal of Ophthalmology(English edition) 2018年第2期11卷 296-300页

作者： Zhi-Qiao Liang Lyu-Zhen Huang jin-feng qu Ming-Wei Zhao Department of Ophthalmology Peking University People's HospitalBeijing 100044China Eye Diseases and Optometry Institute Beijing 100044China Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases Beijing 100044China College of Optometry Peking University Health Science CenterBeijing 100044China

AIM： To assess the association between endogenous cortisol level and the risk of central serous chorioretinopathy（CSC）.METHODS： Case-control studies were systematically searched on PubM ed, Embase, Cochrane, China National Knowledge Infrastructure（CNKI） for publishes between January 1990 and July 2017 to assess the association between endogenous cortisol level and CSC. The main endpoints were serum cortisol level at 8 a.m. and 24-hour urine 17-hydroxysteroids level. We assessed pooled data using a random-effects model.RESULTS： Of 86 identified studies, 5 were eligible included in our analysis. The 5 studies included a total of 315 participants, of whom 187 had CSC. Statistically significant association was observed between serum cortisol level（summary SMD=0.77, 95%CI=0.55-0.99）, 24-hour urine 17-hydroxysteroids level（summary SMD=0.95, 95%CI=0.61-1.30）, and the risk of CSC.CONCLUSION： Endogenous cortisol level is associated with an increased risk of CSC. Combined treatment targeting the serum cortisol level at 8 a.m. and 24-hour urine 17-hydroxysteroids level can be a potential preventive strategy for individuals who are at risk of CSC and therapeutic strategy for patients with CSC.

关键词： endogenous cortisol central serous chorioretinopathy serum cortisol 24-hour urine 17-hydroxysteroids Meta-analysis

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Mobility of rhenium and selenium during chemical weathering and their implication for petrogenic organic carbon oxidation

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Science China Earth Sciences 2024年第3期67卷 740-750页

作者： Yuhong ZHANG jin WANG Yuanxin qu Chao ZHU Zhangdong jin State Key Laboratory of Loess and quaternary Geology Institute of Earth EnvironmentChinese Academy of SciencesXi'an 710061China University of Chinese Academy of Sciences Beijing 100049China Xi'an Institute for Innovative Earth Environment Research Xi'an 710061China Institute of Global Environmental Change Xi'an Jiaotong UniversityXi'an 710049China

The oxidative weathering of petrogenic organic carbon(OC_(petro)) is an important source of carbon dioxide(CO_(2)) into the atmosphere on geological timescales and significantly influences the carbon cycle and global climate change. However, at present, a robust proxy to assess OC_(petro)oxidation is lacking. Riverine rhenium(Re) has emerged as a potential proxy to trace OC_(petro)oxidation, but little is known about Re sources and its relationship with OC_(petro)oxidation. To better understand the robustness of this proxy, we analyzed a shale weathering profile from the early Cambrian Shuijingtuo Formation in Chengkou County, Chongqing City, to address the mobility of Re and selenium(Se) and their relationship with the oxidation of OC_(petro)by analyses of the elemental variation and sequential extraction. The results showed that the chemical index of alteration(CIA)increases from the fresh bedrock to the weathered sections, indicating enhanced weathering intensity. Based on the sequential extraction and mass transfer coefficients(τ), Re and Se mainly exist in the organic phase of shale and are paired lost with OC_(petro) during weathering, with no obvious correlation with sulfide minerals. Furthermore, the different proportions of Re and Se loss with OC_(petro) loss can be attributed to their different geochemical behaviors during weathering. Our study supports Re as a robust proxy to trace OC_(petro) oxidation, whereas Se is the potential one. In the future, combined studies on various sedimentary rock profiles with catchment basins are needed to determine the sources of riverine Re and Se and their relationships with OC_(petro) oxidation.

关键词： Rhenium and selenium Shale Mobility OC_(petro) Chemical weathering

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An MPI parallel DEM-IMB-LBM framework for simulating fluid-solid interaction problems

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Journal of Rock Mechanics and Geotechnical Engineering 2024年第6期16卷 2219-2231页

作者： Ming Xia Liuhong Deng fengqiang Gong Tongming qu Y.T.feng jin Yu Hunan Key Laboratory of Geomechanics and Engineering Safety Xiangtan UniversityXiangtan411105China School of Civil Engineering Southeast UniversityNanjing211189China Department of Civil and Environmental Engineering Hong Kong University of Science and TechnologyHong KongChina Zienkiewicz Centre for Computational Engineering Swansea UniversitySwanseaSA18ENUK Fujian Research Center for Tunneling and Urban Underground Space Engineering Huaqiao UniversityXiamen361021China

The high-resolution DEM-IMB-LBM model can accurately describe pore-scale fluid-solid interactions,but its potential for use in geotechnical engineering analysis has not been fully unleashed due to its prohibitive computational costs.To overcome this limitation,a message passing interface(MPI)parallel DEM-IMB-LBM framework is proposed aimed at enhancing computation efficiency.This framework utilises a static domain decomposition scheme,with the entire computation domain being decomposed into multiple subdomains according to predefined processors.A detailed parallel strategy is employed for both contact detection and hydrodynamic force calculation.In particular,a particle ID re-numbering scheme is proposed to handle particle transitions across sub-domain interfaces.Two benchmarks are conducted to validate the accuracy and overall performance of the proposed framework.Subsequently,the framework is applied to simulate scenarios involving multi-particle sedimentation and submarine landslides.The numerical examples effectively demonstrate the robustness and applicability of the MPI parallel DEM-IMB-LBM framework.

关键词： Discrete element method(DEM) Lattice Boltzmann method(LBM) Immersed moving boundary(IMB) Multi-cores parallelization Message passing interface(MPI) CPU Submarine landslides

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Experimental study on workability and permeability of sandy soils conditioned with thickened foam

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Journal of Rock Mechanics and Geotechnical Engineering 2024年第2期16卷 532-544页

作者： Zhiyao feng Shuying Wang Tongming qu Xiangcou Zheng Fanlin Ling School of Civil Engineering Central South UniversityChangsha410075China Tunnel and Underground Engineering Research Center Central South UniversityChangsha410075China Department of Civil and Environmental Engineering The Hong Kong University of Science and TechnologyClearwater BayKowloon999077Hong KongChina Geo-Engineering Section Delft University of TechnologyDelft999025Netherlands

Water spewing and muck plugging often occur during earth pressure balance(EPB)shield machines tunnelling in water-rich sandy strata,even though the conventional foam has been employed to condition sandy soils.In this study,a novel thickened foaming agent suitable for EPB shield tunnelling in water-rich sandy strata is developed.In contrast to conventional foam-conditioned sands,the thickened foam-conditioned sand has a low permeability due to the consistent filling of soil pores with the thickened foam,and the initial permeability coefficient decreases by approximately two orders of magnitude.It also exhibits a suitable workability,which is attributed to the enhanced capability of the thickened foam to condition sandy soils.In addition,the effect of concentration on the stability of the foam is explained by the Gibbs-Marangoni effect,and conditioning mechanisms for the thickened foam on sands are discussed from the evolution of foam bubbles.

关键词： Earth pressure balance(EPB)shield Thickened foam Foam-conditioned sand Permeability Workability

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Regioselective and asymmetric allylic alkylation of vinyl epoxides for the construction of allylic alcohols via synergistic catalysis

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Science China Chemistry 2024年第2期67卷 542-550页

作者： Min Chen Longqing Yang Yuzhen Li Yinhe qu Guihua Pan Xiaoming feng Xiaohua Liu Key Laboratory of Green Chemistry&Technology Ministry of EducationCollege of ChemistrySichuan UniversityChengdu610064China

A highly efficient asymmetric allylic alkylation of cyclic and acyclic carbon nucleophiles with vinyl epoxides has been developed,which exhibits good functional group compatibility,high atomic and step economy.This protocol utilizes a strategy of synergistic catalysis with a chiral N,N'-dioxide/Ni~Ⅱ complex and an achiral Pd~0 catalyst,generating a series of multisubstituted allylic alcohols with a quaternary carbon stereocenter in high yield and excellent regio-,Z/E-and enantioselectivity under mild conditions.Further transformations of the product demonstrate the potential utility of this protocol in the synthesis of allyl alcohol derivatives and natural product analogues.Experimental studies revealed that the N,N′-dioxide/metal complexes play an important role in controlling the Z/E-and enantioselectivity.The density functional theory(DFT) calculations further demonstrated that multiple C–H···π interactions between the aromatic rings of the two substrates and the amide moiety in the ligand stabilized the dominant transition state.

关键词： asymmetric allylic alkylation synergistic catalysis vinyl epoxides allyl alcohol multiple weak interactions

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Absorption characteristics,model,and molecular mechanism of hydrogen sulfide in morpholine acetate aqueous solution

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Chinese Journal of Chemical Engineering 2024年第2期66卷 125-135页

作者： Hongwei jin Yun Teng Kangkang Li Zhou feng Zhonghao Li Shiqi qu Hongzhi Xia Huanong Cheng Yugang Li Xinshun Tan Shiqing Zheng College of Chemical Engineering Qingdao University of Science and TechnologyQingdao 266042China

The solubility of H_(2)S was measured in solutions of N-butyl-N-methylmorpholine acetate([Bmmorp][Ac])containing 20%-40%(mass)water at experimental temperatures ranged from 298.15 to 328.15 K and pressures up to 320 k Pa.The total solubility of H_(2)S increased with higher temperatures,lower pressures,and reduced water content.The reaction equilibrium thermodynamic model was used to correlate the solubility data.The results indicate that the chemical reaction equilibrium constant decrease with increasing water content and temperature,whereas Henry constant increase with increasing water content and temperature.Compared with other ionic liquids,H_(2)S exhibits a higher physical absorption enthalpy and a lower chemical absorption enthalpy in[Bmmorp][Ac]aqueous solution.This suggests that[Bmmorp][Ac]has a strong physical affinity for H_(2)S and low energy requirement for desorption.quantum chemical methods were used to investigate the molecular mechanism of H_(2)S absorption in ionic liquids.The interaction energy analysis revealed that the binding of H_(2)S with the ionic liquid in a1:2 ratio is more stable.Detailed analyses by the methods of the interaction region indicator and the atoms in molecules were conducted to the interactions between H_(2)S and the ionic liquid.

关键词： Ionic liquid Hydrogen sulfide Model Solubility Molecular mechanism

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Fli1 acts in parallel with Pu.1 to control macrophage and neutrophil fate in zebrafish

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Journal of Genetics and Genomics 2024年第3期51卷 359-362页

作者： Ao Zhang jingao Lu Shachuan feng Huapeng Yu Tao Yu Shizheng Zhao Kemin Chen Zhibin Huang jin Xu Jianan Y.qu Zilong Wen Division of Life Science Hong Kong University of Science and TechnologyClear Water BayKowloonHong KongChina Division of Cell Developmental and Integrative BiologySchool of MedicineSouth China University of TechnologyGuangzhouGuangdong 510006China Department of Immunology and Microbiology School of Life ScienceSouthern University of Science and TechnologyShenzhenGuangdong 518055China Biomedical Research Institute Shenzhen Peking University-Hong Kong University of Science and Technology Medical CenterShenzhenGuangdong 518036China Department of Electronic and Computer Engineering Hong Kong University of Science and TechnologyClear Water BayKowloonHong KongChina Greater Bay Biomedical Innocenter Shenzhen Bay LaboratoryShenzhenGuangdong 518067China

Macrophages and neutrophils are key components of myeloid cells and play critical roles in innate immune responses,organ formation,and tissue homeostasis.The integrity of their functions heavily relies on the generation of a proper number of mature macrophages and neutrophils through embryonic and adult myelopoiesis.In mammalian adult myelopoiesis,oligopotent common myeloid progenitors(CMPs)are known to be the earliest myeloid progenitors,which give rise to granulocyte-macrophage progenitors(GMPs),subsequently differentiate into unipotent neutrophil and macrophage precursors,and finally,mature macrophages and neutrophils(Orkin and Zon,2008).In contrast,the ontogeny of embryonic myelopoiesis and the mechanism underlying the formation of macrophages and neutrophils remainless understood.

关键词： fish macrophage homeostasis

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