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Genotypes and Phenotypes of Uygur Children with Xeroderma Pigmentosum: A Case Study in Xinj.ang, China

International j.urnal of Dermatology and Venereology 2024年第3期7卷 144-149页

作者： Qiu Y. Wang W.-j. Liang j.-Q. Yakeya B. Wang P. z.ang j.-z. Kang X.-j. Department of Dermatology and Venereology People's Hospital of Xinjiang Uygur Autonomous Region Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinj.ang Clinical Research Center for Dermatologic Diseases Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinj.ang Key Laboratory of Dermatology Research (Xj.S1707) Xinjiang Uygur Autonomous Region Urumqi 830001 China

Obj.ctive: Xeroderma pigmentosum (XP) is a rare autosomal recessive dermatosis caused by genetic defects of DNA repair. This study was performed to detect and analyze the genes of 2 Uygur patients with XP and their families and assess the patients' phenotypes, which may enrich the understanding of the genetic skin disorder spectrum in Xinj.ang area. Methods: We collected the clinical data from 2 patients with XP and peripheral blood samples from the patients and their family members. The patients' DNA was sequenced and detected by Sanger sequencing, and gene mutations were screened. Results: The proband in family 1 presented with brown maculae at the exposure site and squamous cell carcinoma secondary to a facial rash. The proband had a homozygous nucleotide variation of XPC c.2251-2A> G (A change from A to G in the penultimate position of the intron before the 2251 position in the coding region), which was a shear mutation. In this family, both parents were heterozygous, and no similar mutation detected in the sister. In family 2, the proband had scattered black brown spots and papules on the trunk and limbs. and his younger sister was also a patient. The proband and his younger sister had homonucleotide variation of XPA c.631C> T, which was nonsense mutation, resulting in the codon for Arg No.211 being changed into termination codon (***211X), thus terminating the peptide chain synthesis prematurely. All the normal individuals in the two families were heterozygotes, and homozygous mutations occurred in all the patients, which was consistent with the autosomal recessive inheritance. Conclusion: XP is rare in Uygur population. This study expanded the mutation spectrum of XP and provided a basis for early diagnosis, treatment, prognostic prediction, and prenatal genetic consultation. © 2022 Hospital for Skin Diseases (Institute of Dermatology), Chinese Academy of Medical Sciences, and Chinese Medical Association, published by Wolters Kluwer, Inc.

关键词： gene mutation xeroderma pigmentosum XPA gene XPC gene

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In situ digital testing method for quality assessment of soft soil improvement with polyurethane

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j.urnal of Rock Mechanics and Geotechnical Engineering 2024年第5期16卷 1732-1748页

作者： X.F.Wang C.j.Wang W.V.Yue z.j.z.ang z.Q.Yue Department of Civil Engineering China University of Geosciences (Beijing)BeijingChina Department of Water Science and Engineering Zhengzhou UniversityZhengzhouChina Department of Geotechnical Engineering Tongji UniversityShanghaiChina Department of Civil Engineering The University of Hong KongChina

This study purposes an in situ testing method on quality assessment of soil *** drilling data includes the spatial distribution and in situ strength of untreated and treated soil along three different drillholes measured by on-site drilling monitoring *** factual drilling data can characterize the degree of soil improvement by penetration inj.ction with permeable *** from on-site drilling monitoring shows that the linear zones represent constant drilling speeds shown in the plot of drill bit advancement *** drilling time,which indicates the spatial distributions of soil *** soil profile at the study site is composed of four layers,which includes fill,untreated silty clay,treated silty clay,and mucky *** results of soil profile are verified by the parallel site *** constant drilling speeds profile the coring-resistant strength of drilled *** comparing with the untreated silty clay,the constant drilling speeds of the treated silty clay have been decreased by 13.0-62.8%.Two drilling-speed-based indices of 61.2%and 65.6%are proposed to assess the decreased average drilling speed and the increased in situ strength of treated silty *** tests,*** compressive strength(UCS)test,have been performed with core sample to investigate and characterize in situ strength by comparing that with drilling *** show that the average predicted strengths of treated silty clay are 2.4-6.9 times higher than the average measured strength of untreated silty *** UCS-based indices of 374.5%and 344.2%verified the quality assessment(QA)results by this new in situ *** method provides a cost-effective tool for quality assessment of soil improvement by utilizing the digital drilling data.

关键词： Drilling process monitoring system Hydraulic rotary drilling process Constant drilling speed Soil improvement Quality assessment

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Construction of 2D/2D Ti_(3)C_(2)T_(x)MXene/CdS heteroj.nction with photothermal effect for efficient photocatalytic hydrogen production

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j.urnal of Materials Science & Technology 2024年第4期171卷 1-9页

作者： T.Y.Huang z.Yang S.Y.Yang z.H.Dai Y.j.Liu j.H.Liao G.Y.zhong z.j.Xie Y.P.Fang S.S.z.ang Key Laboratory for Biobased Materials and Energy of Ministry of Education Guangdong Laboratory for Lingnan Modern AgricultureCollege of Materials and EnergySouth China Agricultural UniversityGuangzhou 510643China School of Physics and Optoelectronics South China University of TechnologyGuangzhou 510640China School of Chemical Engineering and Energy Technology Guangdong Provincial Key Laboratory of Distributed Energy SystemsDongguan University of TechnologyDongguan 523808China

The insensitivity of semiconductors to visible and infrared light is a key constraint on the utilization of light energy in photocatalytic *** photocatalysts with full-spectrum absorption through surface engineering is an effective approach to fully harnessing light energy in semiconductor ***,a novel stable Ti_(3)C_(2)T_(x)MXene/CdS heteroj.nction catalyst is obtained by in-situ epitaxial growth of two-dimensional(2D)CdS nanosheets on 2D MXene interface via a solvothermal *** exceptional light absorption properties of MXene confer outstanding full-spectrum driven photocat-alytic hydrogen evolution capability upon the heterogeneous *** unique 2D/2D structure effectively mitigated the recombination of photogenerated carriers,enhancing the photocatalytic performance of the ***,the composite catalyst exhibits a significantly higher surface temperature of 80.4℃under visible light irradiation at an intensity of 0.1 W/cm^(2),which is 1.84 times higher than that of *** irradiation of visible and near infrared light,the composite catalyst with photothermal ef-fect demonstrates a remarkable hydrogen evolution rate of 65.4 mmol g^(-1)h^(-1),which is 7.2 times higher than that of CdS *** study introduces a novel approach for constructing full-spectrum absorption catalysts and expands the application of the photothermal effect in photocatalytic hydrogen evolution research.

关键词： Two-dimensional structure Heterostructure Photothermal effect Photocatalyst Hydrogen evolution

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Four Late-type Galaxies with Double Radio Lobes and Properties of Such Galaxies

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Research in Astronomy and Astrophysics 2024年第4期24卷 84-90页

作者： z.S.Yuan X.Y.Gao z.L.Wen j.L.Han National Astronomical Observatories Chinese Academy of SciencesBeijing 100101China CAS Key Laboratory of FAST National Astronomical ObservatoriesChinese Academy of SciencesBeijing 100101China School of Astronomy and Space Sciences University of Chinese Academy of SciencesBeijing 100049China

The triggering mechanism for radio lobes from late-type galaxies is not fully *** samples are desired for a thorough investigation and *** utilizing the optical data from the newly released Dark Energy Spectroscopic Instrument imaging surveys and the radio sources from the NRAO VLA Sky Survey and the Faint Images of the Radio Sky at Twenty-centimeter,we identify four Late-type Galaxies with double Radio Lobes(La GRLs):j.217-3645,j.947+6220,j.412+3723 and j.736+*** previously known La GRLs,we confirm the correlation between radio power P_(1.4GHz)and stellar mass M_(*)of host ***(25/35)La GRLs belong to the blue cloud galaxies,while the newly identified cases in this work are located within the region of the red *** find a clear correlation between the differential radio power,i.e.,the offset from the P_(1.4GHz)-M_(*)relation,and the galaxy color,indicating that bluer galaxies at a fixed M_(*)tend to host more powerful radio ***,the maj.rity(31/36)of La GRLs are either located in a galaxy group or displaying a disturbed *** suggest that all of the galaxy mass,color and surrounding environment could play important roles in triggering radio lobes in late-type galaxies.

关键词： galaxies:active galaxies:j.ts galaxies:spiral radio continuum:galaxies

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Serum amylase as a novel prognostic marker of organophosphorus poisoning: a retrospective study

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Emergency and Critical Care Medicine 2024年第3期4卷 111-116页

作者： Guo X. Chen z. Feng K. zeng S. z.ang j. Ma z. Yuan C. School of Clinical Medicine Ningxia Medical University Ningxia Hui Yinchuan China Emergency Department General Hospital of Ningxia Medical University Ningxia Hui Autonomous Region Yinchuan China

Background: This study aims to explore the significance of serum amylase levels in patients with organophosphorus pesticide (OP) poisoning and to provide a new perspective for evaluating the severity and prognosis of OP poisoning. Methods: The clinical data of 67 patients with acute OP poisoning, who had been treated in the emergency department of the General Hospital of Ningxia Medical University between September 2020 and August 2022, were retrospectively analyzed. Using Spearman rank correlation, serum amylase levels during admission and severity of poisoning correlated with discharge outcomes. Based on serum amylase levels, receiver operating characteristic curves were plotted to predict the severity and mortality of patients who experience organophosphate poisoning. The optimal threshold serum amylase level at admission was determined based on the maximum Youden index. Results: Using Spearman rank correlation analysis, serum amylase levels at admission positively correlated with the severity of poisoning and discharge outcomes, but the degree of correlation was weak (rs: 0.344; 0.264; P 194.1 U/L at admission was 15.944 (95% CI: 1.825–139.274). Conclusion: Serum amylase levels in patients with organophosphate poisoning correlate with the degree of poisoning and discharge outcomes. Higher serum amylase level was a risk factor for organophosphorus poisoning death. © Wolters Kluwer Health, Inc. All rights reserved.

关键词： Amylase Emergency department Organophosphorus pesticide poisoning Prognosis

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Microarray analysis of signalling interactions between inflammation and angiogenesis in subchondral bone in temporomandibular j.int osteoarthritis

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Biomaterials Translational 2024年第2期5卷 175-184页

作者： Qin W. Gao j. Yan j. Han X. Lu W. Ma z. Niu L. j.ao K. Department of Stomatology Tangdu Hospital and State Key Laboratory of Oral and Maxillofacial Reconstruction and Regeneration School of Stomatology The Fourth Military Medical University Shaanxi Province Xi’an China State Key Laboratory of Oral and Maxillofacial Reconstruction and Regeneration and National Clinical Research Centre for Oral Diseases Shaanxi Key Laboratory of Stomatology School of Stomatology The Fourth Military Medical University Shaanxi Province Xi’an China

Inflammation and angiogenesis, the maj.r pathological changes of osteoarthritis (OA), are closely associated with j.int pain; however, pertinent signalling interactions within subchondral bone of osteoarthritic j.ints and potential contribution to the peripheral origin of OA pain remain to be elucidated. Herein we developed a unilateral anterior crossbite mouse model with osteoarthritic changes in the temporomandibular j.int. Microarray-based transcriptome analysis, besides quantitative real-time polymerase chain reaction, was performed to identify differentially expressed genes (DEGs). Overall, 182 DEGs (fold change ≥ 2, P j.cting significant DEGs to enrichment analyses, inflammation and angiogenesis were identified as the most affected. Inflammation-related DEGs were mainly enriched in T cell activation and differentiation and in the mammalian target of rapamycin/nuclear factor-κB/tumour necrosis factor signalling. Furthermore, angiogenesis-related DEGs were mainly enriched in the Gene Ontology terms angiogenesis regulation and vasculature development and in the KEGG pathways of phosphoinositide 3-kinase-protein kinase B/vascular endothelial growth factor/hypoxia-inducible factor 1 signalling. Protein– protein interaction analysis revealed a close interaction between inflammation-and angiogenesis-related DEGs, suggesting that phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta (Pi3kcd), cathelicidin antimicrobial peptide (Camp), C-X-C motif chemokine receptor 4 (Cxcr4), and MYB proto-oncogene transcription factor (Myb) play a central role in their interaction. To summarize, our findings reveal that in subchondral bone of osteoarthritic j.ints, signal interaction is interrelated between inflammation and angiogenesis and associated with the peripheral origin of OA pain; moreover, our data highlight potential t

关键词： angiogenesis inflammation osteoarthritic pain osteoarthritis subchondral bone temporomandibular j.int (TMj.

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Granger causal representation learning for groups of time series

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Science China(Information Sciences) 2024年第5期67卷 56-68页

作者： Ruichu CAI Yunj.n WU Xiaokai HUang Wei CHEN Tom z.j.FU zhifeng HAO School of Computer Science Guangdong University of Technology Peng Cheng Laboratory College of Science Shantou University

Discovering causality from multivariate time series is an important but challenging *** existing methods focus on estimating the Granger causal structures among multivariate time series,while ignoring the prior knowledge of these time series, e.g., the group of the time series. Focusing on discovering the Granger causal structures among groups of time series, we propose a Granger causal representation learning method to solve this problem. First, we use the multiset canonical correlation analysis method to learn the Granger causal representation of each group of time series. Then, we model the Granger causal relationships among the learned Granger causal representations using a recurrent neural network with temporal information. Finally, we formulate the above two stages into one unified optimization problem, which is efficiently solved using the augmented Lagrangian method. We conduct extensive experiments on synthetic and real-world datasets to validate the correctness and effectiveness of the proposed method.

关键词： Granger causal discovery Granger causal representation learning time series data recurrent neural network multiset canonical correlation analysis

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Interface catalytic reduction of alumina by nickle for the aluminum nanowire growth: Dynamics observed by in situ TEM

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Nano Research 2024年第3期17卷 1225-1231页

作者： zichun Wang Dan Wang ang Li Lizhuo Wang Xiaodong Han Yij.ao j.ang j.anfeng Chen j.n Huang Beij.ng Advanced Innovation Center for Soft Matter Science and Engineering State Key Laboratory of Organic–Inorganic CompositesBeijing University of Chemical TechnologyBeijing 100029China Laboratory for Catalysis Engineering School of Chemical and Biomolecular EngineeringThe University of SydneyNew South Wales 2006Australia Beij.ng Key Laboratory of Microstructure and Property of Advanced Materials Beijing University of TechnologyBeijing 100024China Department of Engineering Macquarie UniversitySydneyNew South Wales 2109Australia

Metal nanowires show promise in a broad range of applications and can be fabricated via a number of methods,such as vapor–liquid–solid process and template-based ***,the synthesis of Al nanowires(NWs)is still challenging from the stable alumina *** this work,the Ni-catalyzed fabrication of Al NWs has been realized using various Al_(2)O_(3) *** growth dynamics of Al NWs on Ni/Al_(2)O_(3) was studied using in situ transmission electron microscopy(TEM).The effect of alumina structures,compositions,and growth temperature were *** growth of Al NWs correlates with the Na addition to the alumina *** no eutectic mixture of nickel aluminide was formed,a mechanism of Ni-catalyzed reduction of Al_(2)O_(3) for Al NWs growth has been proposed instead of the vapor–liquid–solid *** key insights reported here are not restricted to Ni-catalyzed Al NWs growth but can be extended to understanding the dynamic change and catalytic performance of Ni/Al_(2)O_(3) under working conditions.

关键词： in situ transmission electron microscopy(TEM) Al nanowires alumina reduction nanowire growth

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Compressive property and energy absorption characteristic of interconnected porous Mg-zn-Y alloys with adj.sting Y addition

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j.urnal of Magnesium and Alloys 2024年第1期12卷 171-185页

作者： j.A.Liu S.j.Liu B.Wang W.B.Sun X.j.Liu z.W.Han College of Materials Science and Engineering Key Laboratory of Automobile Materials(Ministry of Education)Jilin UniversityChangchun 130022PR China Key Laboratory of Bionic Engineering(Ministry of Education) College of Biological and Agricultural EngineeringJilin UniversityChangchun130022PR China Weihai Institute for Bionics-j.lin University Weihai 264205PR China

In this study,interconnected porous Mg-2zn-xY alloys with different phase compositions were prepared by various Y additions(x=0.4,3,and 6 wt.%)to adj.st the compressive properties and energy absorption *** characterization methods were then applied to identify the microstructure of the porous Mg-zn-Y and describe the details of the second *** tests were performed at room temperature(RT),200℃,and 300℃to study the impact of the Y addition and testing temperature on the compressive properties of the porous *** experimental results showed that a high Y content promotes a microstructure refinement and increases the volume fraction of the second *** the Y content increases,different Mg-zn-Y ternary phases appear:I-phase(Mg_(3)zn_(6)Y),W-phase(Mg_(3)zn_(3)Y_(2)),and LPSO phase(Mg_(12)znY).When the Y content ranges between 0.4%and 6%,the compressive strength increases from 6.30MPa to 9.23 MPa,and the energy absorption capacity increases from 7.33 Mj.m^(3)to 10.97 Mj.m^(3)at RT,which is mainly attributed to the phase composition and volume fraction of the second ***,the average energy absorption efficiency is independent of the Y *** addition,the compressive deformation behaviors of the porous Mg-zn-Y are altered by the testing *** compressive strength and energy absorption capacity of the porous Mg-zn-Y decrease due to the softening effect of the high temperature on the *** deformation behaviors at different temperatures are finally observed to reflect the failure mechanisms of the struts.

关键词： Porous magnesium Rare earth elements Microstructure Compressive behavior Energy absorption characteristic

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Effect of Al_(2)O_(3)on the Mechanical Properties of(B_(4)C+Al_(2)O_(3))/Al Neutron Absorbing Materials

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Acta Metallurgica Sinica(English Letters) 2024年第8期37卷 1411-1420页

作者： j.X.Cai B.M.Shi N.Li Y.Liu z.G.z.ang Y.N.zan Q.z.Wang B.L.Xiao z.Y.Ma Shi‑Changxu Innovation Center for Advanced Materials Institute of Metal ResearchChinese Academy of SciencesShenyang 110016China Key Laboratory of Nuclear Materials and Safety Assessment Institute of Metal ResearchChinese Academy of SciencesShenyang 110016China Nuclear Equipment Division Beijing Institute of Nuclear EngineeringChina Nuclear Power Engineering Co.Ltd.Beijing 100840China Department of Materials Science School of Mechanical EngineeringShenyang UniversityShenyang 110044China

B_(4)C/Al composites are widely utilized as neutron absorbing materials for the storage and transportation of spent nuclear *** order to improve the high-temperature mechanical properties of B_(4)C/Al composites,in-situ nano-Al_(2)O_(3)was introduced utilizing oxide on Al powder *** this study,the Al_(2)O_(3)content was adj.sted by utilizing spheroid Al powder with varying diameters,thereby investigating the impact of Al_(2)O_(3)content on the tensile properties of(B_(4)C+Al_(2)O_(3))/Al *** was found that the pinning effect of Al_(2)O_(3)on the grain boundaries could hinder the recovery of dislocations and lead to dislocation accumulation at high *** the result,with the increase in Al_(2)O_(3)content and the decrease in grain size,the high-temperature strength of the composites increased *** finest Al powder used in this investigation had a diameter of 1.4μm,whereas the resultant composite exhibited a maximum strength of 251 MPa at room temperature and 133 MPa at 350℃,surpassing that of traditional B_(4)C/Al composites.

关键词： Al matrix composites Neutron absorbing materials (B_(4)C+Al_(2)O_(3))/Al composites High-temperature strength

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