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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang zhi-xian yang Ye Wu Yu-Wu Jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BeijingChina Children Epilepsy Center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina Center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular trafficking.The phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial abnormalities.Methods We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation sequencing.Detailed information obtained from these patients was analyzed along with that obtained from previously reported patients.Results With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related cases.Most patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental delay.The most common pathogenic missense variants were PACSI p.Arg203Trp and PACS2 p.Glu209Lys.In addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset epilepsy.Conclusions The clinical phenotypes of the different PACS heterozygous missense variants were similar.The pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be pathogenic.These findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

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Scattering of Water Waves by Dual Symmetric Inclined Floating Porous Barriers Using the DBEM

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China Ocean Engineering 2024年第1期38卷 156-168页

作者： WANG Li-xian DENG Yan-wen YE yang-sha DENG Zheng-zhi Key Laboratory of High Performance Ship Technology(Wuhan University of Technology) Ministry of EducationWuhan 430063China School of Naval Architecture Ocean and Energy Power EngineeringWuhan University of TechnologyWuhan 430063China Key Laboratory of Water-Sediment Sciences and Water Disaster Prevention of Hunan Province Changsha 410114China Institute of Port Coastal and Offshore EngineeringZhejiang UniversityZhoushan 316021China

The scattering of normally incident water waves by two surface-piercing inclined perforated barriers in water with a uniform finite depth is investigated within the framework of linear water wave theory.Considering that thin barriers are zero-thickness,a novel numerical method involving the the coupling of the dual boundary element method(DBEM)with damping layers is applied.In order to effectively damp out the reflected waves,two damping layers,instead of pseudoboundaries are implemented near the two side boundaries of the computational domain.Thus,the modified linearized free surface boundary conditions are formulated and used for solving both the ordinary boundary integral equation as well as the hypersingular boundary integral equation for degenerate boundaries.The newly developed numerical method is validated against analytical methods using the matched eigenfunction expansion method for the special case of two vertical barriers or the inclined angle to the vertical being zero.The influence of the length of the two damping layers has been discussed.Moreover,these findings are also validated against previous results for several cases.After validation,the numerical results for the reflection coefficient,transmission coefficient and dissipation coefficient are obtained by varying the inclination angle and porosity-effect parameter.The effects of both the inclination angle and the porosity on the amplitudes of wave forces acting on both the front and rear barriers are also investigated.It is found that the effect of the inclination angle mainly shifts the location of the extremal values of the reflection and the transmission coefficients.Additionally,a moderate value of the porosity-parameter is quite effective at dissipating wave energy and mitigating the wave loads on dual barriers.

关键词： dual boundary element method inclined perforated floating breakwater reflection coefficient transmission coefficient damping layer

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Progress in processing of porous titanium: a review

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Rare Metals 2024年第5期43卷 1932-1955页

作者： Xiao-Li yang xian-Feng Du zhi-Lin Xu Zhong-Shuai Liang Li-Long Xiong Engineering Research Center of Energy Storage Materials and Devices Ministry of Education School of Chemistry Xi'an Jiaotong University

As a novel structural and functional material,porous titanium and its alloys have been widely used in the aerospace, marine engineering and biomedical fields due to their high corrosion resistance, low density, good biocompatibility and excellent mechanical properties. Therefore, in this paper, a comprehensive review of powder metallurgy(PM)(including additive manufacturing(AM)processes) for fabricating porous titanium is firstly covered in terms of their working principles, capabilities, shortcomings and strengths. Simultaneously, the influencing factors of various methods on final pore structure of porous Ti are involved. Secondly, a summary of the chemical methods(CM) to obtain the porous Ti is also provided,such as dealloying method and reduction method. Finally,the tendency and direction of preparation technology as well as application of porous titanium were prospected.

关键词： Porous titanium Powder metallurgy Chemical method Pore structure Processing process

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Combustion mechanism of benzene in iron ore sintering process:experimental and simulation

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Journal of Iron and Steel Research(International) 2024年第1期31卷 195-203页

作者： zhi-gang Que Jin-ming Shi xian-bin Ai Institute of Energy Research Jiangxi Academy of ScienceNanchang330096JiangxiChina Jiangxi Carbon Neutralization Research Center Nanchang330096JiangxiChina

Benzene is a typical component of volatile organic compounds(VOCs)in the iron ore sintering flue gas.The combustion behavior of benzene directly affects the emission of VOCs in iron ore sintering process.The effects of temperature,benzene,and oxygen concentrations on the conversion ratio of benzene were investigated by experiments and numerical simulation.The experiments were carried out in a tube reactor at temperatures of 773-1098 K,benzene concentrations of 0.01-0.03 vol.%,and oxygen concentrations of 10-21 vol.%.The numerical simulation was performed with the plug flow model in the CHEMKIN program based on a kinetic model that consists of 132 chemical species and 772 elementary step-like reactions.The experimental results reveal that increasing the temperature and benzene concentration could signifi-cantly promote benzene combustion.It is attributed to the increase in the reaction rates of all steps in the pathway for forming CO_(2)and H_(2)O.In addition,due to the large equivalent ratio of oxygen to benzene,the conversion ratio of benzene remained constant at different oxygen concentrations.The simulation results were in good agreement with the experimental results and indicated that six elementary reactions dominated the formations of CO_(2)and H_(2)O.The oxidations of C_(6)H_(5)O,CO,and C_(5)H_(4)O intermediates to CO_(2)were the limiting steps in the reaction pathways.

关键词： Benzene Volatile organic compound Iron ore sinter Combustion Simulation Temperature Oxygen

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Microstructure and mechanical properties of Ti/Al/Ti clad plates prepared via powder-in-tube method

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Journal of Iron and Steel Research(International) 2024年第3期31卷 670-687页

作者： xian-lei Hu Qin-cheng Xie Yi Yuan Ying zhi State Key Laboratory of Rolling and Automation Northeastern UniversityShenyang 110819LiaoningChina Suzhou Dongbao Haixing Metal Material Technology Co. Ltd.Suzhou 215600JiangsuChina School of Material Science and Engineering Northeastern UniversityShenyang 110819LiaoningChina

The Ti/Al/Ti clad plates exhibit a broad spectrum of potential applications.However,the conventional techniques of hot-pressing composite and explosive composite are intricate and environmentally hazardous.A novel method was introduced for preparing clad plates,namely,the powder-in-tube method.This method involves a combination of cold rolling,annealing at a temperature of 550℃,and double rolling.The morphology of the intermetallic compound layer was analyzed through the utilization of interface stripping test,tensile test,and microscopic characterization.The interface morphology,interface bonding properties,tensile fracture structures,and properties of plates under the first and second rolling were compared,along with the effects of intermetallic compounds on the interface properties.The results indicate that the powder-in-tube method,when annealed at 550℃,can produce a composite plate featuring a complete and uniform Ti/Al interface.The obtained plate exhibits a peeling strength of 21.5 N/mm,tensile strength of 424 MPa,and elongation of 11.5%.Furthermore,a systematic analysis was conducted to determine the causes of performance degra-dation observed during annealing at temperatures of 600 and 650℃.

关键词： Powder-in-tube method-Ti/Al/Ti clad plate Annealing Cold rolling-Mechanical property

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Stabilization/solidification mechanisms of tin tailings and fuming slag-based geopolymers for different heavy metals

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Frontiers of Environmental Science & Engineering 2024年第5期18卷 43-55页

作者： xian Zhou Zhengfu Zhang Hui yang School of Materials Science and Engineering Kunming University of Science and TechnologyKunming650093China Kunming Metallurgical Research Institute Co. Ltd.Kunming650031China

Tin mine tailings(TMT)and fuming slag(FS)contain many heavy metals(As,Cr,Cu,Zn and Mn)that cause severe pollution to the environment.Herein,geopolymers were prepared using TMT,FS and flue gas desulfurization gypsum(FGDG)to immobilize heavy metals,and their compressive strength and heavy metal leaching toxicity were investigated.It was first determined that T4F5(TMT:FS=4:5)sample exhibited the highest compressive strength(7.83 MPa).T4F5 achieved 95%immobilization efficiency for As and Cr,and nearly 100%for Cu,Zn and Mn,showing good immobilization performance.A series of characterization analyses showed that heavy metal cations can balance the charge in the geopolymer and replace Al in the geopolymer structure to form covalent bonds.In addition,about 2%–20%of heavy metal Fe was immobilized in hydration products,heavy metal hydroxides and non-bridging Si–O and Al–O coordination with silica-aluminate matrices.AsO33−was oxidized into AsO43−,which may form Ca–As or Fe–As precipitates.Cr2O72−was converted to CrO42−under alkaline environment and then combined with OH−to form Cr(OH)3 precipitates.Mn2+may react directly with dissolved silicate to form Mn2SiO4 and also form Mn(OH)2 precipitates.The unstable Mn(OH)2 can be further oxidized to MnO2.The heavy metal cations were immobilized in the silicoaluminate lattice,while the anions tended to form insoluble precipitates.These results may benefit the industry and government for better handling of TMT,FS and solid wastes containing the abovementioned five heavy metals.

关键词： Heavy metals Cementitious materials Tin tailings Stabilization/solidification Redox

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Flotation separation of feldspar from quartz using sodium fluosilicate as a selective depressant

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Rare Metals 2024年第3期43卷 1288-1300页

作者： Xin Hu xian-Ping Luo Zi-Shuai Liu Yong-Bing Zhang He-Peng Zhou zhi-Zhao yang Xue-Kun Tang Faculty of Resource and Environmental Engineering Jiangxi University of Science and TechnologyGanzhou341000China Yichun Lithium New Energy Industry Research Institute Jiangxi University of Science and TechnologyYichun336000China

The physical and chemical properties of feldspar and quartz are highly similar,thus they cannot be easily separated effectively.In this work,the flotation separation of feldspar from quartz using sodium fluosilicate(Na_(2)SiF_(6);SF)as a selective depressant was investigated.Moreover,the influence mechanism of SF on the selective flotation separation of feldspar and quartz was investigated via flotation tests,chemical analysis of flotation solution,Fourier transform infrared spectroscopy(FTIR),X-ray photoelectron spectroscopy(XPS)and contact angle analysis.The results of the flotation tests show that feld spar and quartz without SF treatment have good floatability.After SF treatment,feldspar still has good floatability,whereas quartz has significantly reduced floatability.Flotation solution chemical analysis shows that the functional group plays an important role in depressing the quartz is[SiF_(6)]^(2-).FTIR,XPS and contact angle analysis results show that[SiF_(6)]^(2-)is adsorbed only on the surface of quartz.Thus,a thin hydrophilic SiOF layer is generated on the surface,which interferes with the adsorption of the collector on the surface of the quartz.This phenomenon leads to a significant reduction in quartz's floatability.Therefore,SF has a good ability to separate feldspar from quartz by flotation.

关键词： Flotation separation Depressants Sodium fluorosilicate Quartz Feldspar

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Antiviral treatment standards for hepatitis B:An urgent need for expansion

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World Journal of Gastroenterology 2024年第4期30卷 418-420页

作者： Zi-Hong Bao zhi-Kun Dai Hao-xian Tang Department of Infectious Diseases The First Affiliated Hospital of Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina Medical College Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina Department of Cardiology The First Affiliated Hospital of Shantou University Medical CollegeShantou 515041Guangdong ProvinceChina

The present letter to the editor is related to the review with the title“Past,present,and future of long-term treatment for hepatitis B virus.”Chronic hepatitis B(CHB)represents an important and pressing public health concern.Timely identification and effective antiviral therapy hold the potential to reduce liver-related mortality attributable to chronic infection with hepatitis B virus(HBV)substantially.However,the current global treatment rates for CHB remain conspicuously low,with the excessively stringent treatment criteria advocated by national CHB guidelines being a contributing factor to these low rates.Nevertheless,recent strides in comprehending this malady and the emergence of novel antiviral agents prompt the imperative re-evaluation of treatment standards to extend the sphere of potential beneficiaries.An impending need arises for a novel paradigm for the classification of patients with CHB,the expansion of antiviral treatment eligibility for HBV-infected individuals,and even the streamlining of the diagnostic process for CHB to amplify cost-effectiveness and augment survival prospects.

关键词： Hepatitis B virus Chronic hepatitis B Antiviral treatment criteria Serum alanine aminotransferase Liver-related mortality Letter to the Editor

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Rational design of ZnCdS/TpPa-1-COF heterostructure photocatalyst by strengthening the interface connection in solar hydrogen production reactions

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Nano Research 2024年第3期17卷 1027-1034页

作者： Di yang zhi-Gang Li Xinghao Zhang Zenghuan Ren Weihan Lu Haining Liu Xiaomeng Guo Jijie Zhang xian-He Bu Tianjin Key Laboratory of Metal and Molecule-Based Material Chemistry School of Materials Science and EngineeringNankai UniversityTianjin 300350China College of Chemistry and Pharmaceutical Engineering Hebei University of Science and TechnologyShijiazhuang 050018China State Key Laboratory of Elemento-Organic Chemistry College of ChemistryNankai UniversityTianjin 300071China

ZnCdS quantum dots(QDs)are highly coveted in photocatalysis research for their exceptional visible-light responses and high light-absorption coefficients.However,their practical application is hindered by their tendency to aggregate,due to having high surface energies.To address this issue,herein,a heterostructure is synthesized by growing ZnCdS QDs with a size of approximately 5 nm onto the surface of a two-dimensional(2D)covalent organic framework(COF),TpPa-1-COF.This approach suppresses the aggregation of the QDs and improves their stability.The ZnCdS/TpPa-1-COF composite exhibited a peak hydrogen evolution rate of 6244.16μmol·g^(-1)·h^(-1),which was 2.89 and 4.18 times greater than that of ZnCdS and TpPa-1-COF,respectively.The zero-dimensional/two-dimensional(0D/2D)heterojunction formed by ZnCdS and TpPa-1-COF generates a strong interfacial force,which is attributed to the intimate contact between the interfaces.Tight connections accelerate charge separation,improve the utilisation of reduced electrons,and reduce the extent of agglomeration of the ZnCdS QDs,thereby resulting in high hydrogen production activity of the composites.Meanwhile,the photocatalytic mechanism is studied using Kelvin probe force microscopy and theoretical calculations.This study offers a novel approach for creating sulfide photocatalysts and is crucial for investigating the potential practical applications of the related photocatalysts.

关键词： covalent organic frameworks quantum dots photocatalysis hydrogen generation heterojunction

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OsPDR20 is an ABCG metal transporter regulating cadmium accumulation in rice

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Journal of Environmental Sciences 2024年第2期136卷 21-34页

作者： He Li Chao Li Di Sun zhi Min yang Department of Biochemistry and Molecular Biology College of Life SciencesNanjing Agricultural UniversityNanjing 210095China

Cadmium(Cd)is a non-essential toxic heavy metal,seriously posing high environmental risks to human health.Digging genetic resources relevant to functional genes is important for understanding the metal absorption and accumulation in crops and bioremediation of Cd-polluted environments.This study investigated a functionally uncharacterized ATP binding cassette transporter G family(ABCG)gene encoding a Pleiotropic Drug Resistance 20(PDR20)type metal transporter which is localized to the plasma membrane of rice.OsPDR20 was transcriptionally expressed in almost all tissues and organs in lifespan and was strongly induced in roots and shoots of young rice under Cd stress.Ectopic expression of OsPDR20 in a yeast mutant ycf1 sensitive to Cd conferred cellular tolerance with less Cd accumulation.Knockdown of OsPDR20 by RNA interference(RNAi)moderately attenuated root/shoot elongation and biomass,with reduced chlorophylls in rice grown under hydroponic medium with 2 and 10μmol/L Cd,but led to more Cd accumulation.A field trial of rice grown in a realistic Cd-contaminated soil(0.40 mg/kg)showed that RNAi plants growth and development were also compromised compared to wild-type(WT),with smaller panicles and lower spikelet fertility but little effect on yield of grains.However,OsPDR20 suppression resulted in unexpectedly higher levels of Cd accumulation in rice straw including lower leaves and culm and grain.These results suggest that OsPDR20 is actively involved in Cd accumulation and homeostasis in rice crops.The increased Cd accumulation in the RNAi plants has the potential application in phytoremediation of Cd-polluted wetland soils.

关键词： Rice ABCG transporter Cadmium accumulation Phytoremediation

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