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

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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. Zhang 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

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.Zhang 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

“yin-yang philosophy” for the design of anticancer drug delivery nanoparticles

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Biomaterials Translational 2024年第2期5卷 144-156页

作者： Ai y. Tian y. Qiao j. Wang C. Li H. School of Lifesciences Shanghai University Shanghai China

Understanding the in vivo transport process provides guidelines for designing ideal nanoparticles (NPs) with higher efficacy and fewer off-target effects. Many factors, such as particle size, morphology, surface potential, structural stability, and etc., may influence the delivering process of NPs due to the existence of various physiological barriers within the body. Herein, we summarise the distinct influences of NP physicochemical properties on the four consecutive in vivo transport steps: (1) navigating with bloodstream within blood vessels, (2) transport across vasculature walls into tumour tissues, (3) intratumoural transport through the interstitial space, and (4) cellular uptake & intracellular delivery by cancerous cells. We found that the philosophy behind the current consensus for NP design has certain similarities to the “yin-yang” theory in traditional Chinese culture. Almost all physicochemical properties, regardless of big or small sizes, long or short length, positive or negative zeta potentials, are double-edged swords. The balance of potential benefits and side effects, drug selectivity and accessibility should be fully considered when optimising particle design, similar to the “yin-yang harmony”. This paper presents a comprehensive review of the advancements in NPs research, focusing on their distinct features in tumour targeting, drug delivery, and cell uptake. Additionally, it deliberates on future developmental trends and potential obstacles, thereby aiming to uncover the ways these characteristics influence the NPs’ biological activity and provide theoretical guidance for the targeted delivery of NPs. © 2024, Chinese Medical Multimedia Press Co Ltd. All rights reserved.

关键词： in vivo drug delivery nanoparticle design on-demand drug release targeting strategy “yin-yang harmony”

Supposition of graphene stacks to estimate the contact resistance and conductivity of nanocomposites

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Applied Mathematics and Mechanics(English Edition) 2024年第4期45卷 663-676页

作者： y.ZARE M.T.MUNIR G.j.WENG K.y.RHEE Biomaterials and Tissue Engineering Research Group Department of Interdisciplinary TechnologiesBreast Cancer Research CenterMotamed Cancer InstituteTehran ***Iran College of Engineering and Technology American University of the Middle EastEgaila 54200Kuwait Department of Mechanical and Aerospace Engineering Rutgers UniversityNew BrunswickNJ 08903U.S.A. Department of Mechanical Engineering(BK21 Four) College of EngineeringKyung Hee UniversityYongin 446701Republic of Korea

In this study,the effects of stacked nanosheets and the surrounding interphase zone on the resistance of the contact region between nanosheets and the tunneling conductivity of samples are evaluated with developed equations superior to those previously *** contact resistance and nanocomposite conductivity are modeled by several influencing factors,including stack properties,interphase depth,tunneling size,and contact *** developed model's accuracy is verified through numerous experimental *** further validate the models and establish correlations between parameters,the effects of all the variables on contact resistance and nanocomposite conductivity are ***,the contact resistance is primarily dependent on the polymer tunnel resistivity,contact area,and tunneling *** dimensions of the graphene nanosheets significantly influence the conductivity,which ranges from 0 S/m to90 S/*** increased number of nanosheets in stacks and a larger gap between them enhance the nanocomposite's ***,the thicker interphase and smaller tunneling size can lead to higher sample conductivity due to their optimistic effects on the percolation threshold and network efficacy.

关键词： graphene polymer composite stacked nanosheet tunneling conductivity contact resistance interphase

Artificial-intelligent-powered safety and efficiency improvement for controlling and scheduling in integrated railway systems

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High-speed Railway 2024年第3期2卷 172-179页

作者： Liu j. Liu G. Wang y. Zhang W. Beij.ng National Railway Research & Design Institute of Signal & Communication Group Co. Ltd Beijing 100070 China Engineering Research Center of Railway Industry of Intelligent and Autonomous Train Control Beijing 100070 China

The multi-mode integrated railway system, anchored by the high-speed railway, caters to the diverse travel requirements both within and between cities, offering safe, comfortable, punctual, and eco-friendly transportation services. With the expansion of the railway networks, enhancing the efficiency and safety of the comprehensive system has become a crucial issue in the advanced development of railway transportation. In light of the prevailing application of artificial intelligence technologies within railway systems, this study leverages large model technology characterized by robust learning capabilities, efficient associative abilities, and linkage analysis to propose an Artificial-intelligent (AI)-powered railway control and dispatching system. This system is elaborately designed with four core functions, including global optimum unattended dispatching, synergetic transportation in multiple modes, high-speed automatic control, and precise maintenance decision and execution. The deployment pathway and essential tasks of the system are further delineated, alongside the challenges and obstacles encountered. The AI-powered system promises a significant enhancement in the operational efficiency and safety of the composite railway system, ensuring a more effective alignment between transportation services and passenger demands. © 2024 Beij.ng j.aotong University

关键词： Artificial intelligence High-speed railway Large-scale mode, system framework Multi-mode railway system Safety and efficiency improvement

Chinese Expert Consensus on the Diagnosis and Treatment of Adult Dermatomyositis (2022)#

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International j.urnal of Dermatology and Venereology 2024年第3期7卷 163-173页

作者： Cao H. Chen A.-j. Cui y. Deng D.-Q. Gao X.-H. He y.-L. Kang X.-j. j.n H.-Z. Li C.-X. Li F. Li H.-j. Liao W.-j. Liu X.-M. Lu Q.-j. Lu y. Pan M. Pan W.-H. Shu X.-M. Sun Q. Tang K.-y. Tao j. Wang y. Xiao T. Zhang F.-R. Zhang H.-L. Department of Dermatology Ruijin Hospital Affiliated Shanghai Jiao Tong University School of Medicine Shanghai 200025 China Department of Dermatology First Affiliated Hospital of Chongqing Medical University Chongqing 400042 China Department of Dermatology China-Japan Friendship Hospital Beijing 100029 China Department of Dermatology The Second Affiliated Hospital of Kunming Medical University Yunnan Kunming 650101 China Department of Dermatology The First Hospital of China Medical University Liaoning Shenyang 110001 China Department of Dermatology Beijing Chaoyang Hospital Affiliated to Capital Medical University Beijing 100020 China Department of Dermatology and Venereology People's Hospital of Xinjiang Uygur Autonomous Region Xinjiang Uygur Autonomous Region Urumqi 830001 China Department of Dermatology State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science Peking Union Medical College Beijing 100730 China Department of Dermatology First Medical Center PLA General Hospital Beijing 100853 China Department of Dermatology Hainan Hospital of PLA General Hospital Hainan Sanya 572013 China Department of Dermatology Xijing Hospital Air Force Medical University Shaanxi Xi'an 710032 China Department of Dermatology Huazhong University of Science and Technology Union Shenzhen Hospital Guangdong Shenzhen 518052 China Hospital for Skin Diseases Institute of Dermatology Chinese Academy of Medical Sciences Peking Union Medical College Jiangsu Nanjing 210042 China Department of Dermatology Jiangsu Province Hospital The First Affiliated Hospital Nanjing Medical University Jiangsu Nanjing 210029 China Department of Dermatology Shanghai Changzheng Hospital Second Affiliated Hospital of Naval Medical University Shanghai 200003 China Department of Rheumatology China-Japan Friendship Hospital Beijing 100029 China Department of Dermatology Qilu Hospital of Shandong Universit

Dermatomyositis, an idiopathic inflammatory myopathy, is characterized by distinctive skin manifestations, proximal muscle weakness, and multiple organ involvement and can be accompanied by malignancies. To provide a reference for dermatologists and clinicians in other relevant fields of clinical practice, experts from the Dermatology Branch of the China International Exchange and Promotion Association for Medical and Health Care and the National Clinical Research Center for Dermatologic and Immunologic Diseases developed this consensus on the diagnosis and treatment of adult dermatomyositis using Chinese and international literature and expert advice. © 2024 Wolters Kluwer Health. All rights reserved.

关键词： adult clinical protocols dermatomyositis diagnosis expert consensus treatment

Thermo-kinetic characteristics on stabilizing hetero-phase interface of metal matrix composites by crystal plasticity finite element method

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j.urnal of Materials Science & Technology 2024年第2期169卷 53-67页

作者： y.B.Zhang S.j.Song F.Liu State Key Laboratory of Solidification Processing Northwestern Polytechnical UniversityXi’an 710072China Analytical&Testing Center Northwestern Polytechnical UniversityXi’an 710072China

Using dislocation-based constitutive modeling in three-dimension crystal plasticity finite element(3D CPFE)simulations,co-deformation and instability of hetero-phase interface in different material systems were herein studied for polycrystalline metal matrix composites(MMCs).Local stress and strain fields in two types of 3layer MMCs such as fcc/fcc Cu-Ag and fcc/bcc Cu-Nb have been predicted under simple compressive ***,more severe strain-induced interface instability can be observed in the fcc/bcc systems than in the fcc/fcc systems upon refining to metallic nanolayered composites(MNCs).By detailed analysis of stress and strain localization,it has been demonstrated that the interface instability is always accompanied by high-stress concentration,i.e.,thermodynamic characteristics,or high strain prevention i.e.,kinetic characteristics,at the hetero-phase *** then follows that the thermodynamic driving forceG and the kinetic energy barrier Q during dislocation and shear banding can be adopted to classify the deformation modes,following the so-called thermo-kinetic *** by inserting a high density of high-energy interfaces into the Cu-Nb composites,such thermo-kinetic integration at the hetero-phase interface allows a successful establishment of MMCs with the high△G-high Q deformation mode,which ensures high hardening and uniform strain distri-bution,thus efficiently suppressing the shear band,stabilizing the hetero-phase interface,and obtaining an exceptional combination in strength and *** hetero-phase interface chosen by a couple of thermodynamics and kinetics can be defined as breaking the thermo-kinetic correlation and has been proposed for artificially designing MNCs.

关键词： Thermodynamics and kinetics Physics-based constitutive modeling Hetero-phase interface Crystal plasticity finite element

Optimization of chemistry and process parameters for control of intermetallic formation in Mg sludges

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j.urnal of Magnesium and Alloys 2024年第4期12卷 1431-1448页

作者： y.Fu G.G.Wang A.Hu y.Li K.B.Thacker j.P.Weiler H.Hu Department of Mechanical Automotive and Materials EngineeringUniversity of Windsor401 Sunset AveWindsorOntario N9B 3P4Canada Global Technology Centre Meridian Lightweight Technologies25 MacNab AveStrathroyOntario N7G 4H6Canada

Intermetallic formation in sludge during magnesium(Mg)melting,holding and high pressure die casting practices is a very important ***,very often it is overlooked by academia,original equipment manufacturers(OEM),metal ingot producers and even die *** aim of this study was to minimize the intermetallic formation in Mg sludge via the optimization of the chemistry and process *** Al8Mn5 intermetallic particles were identified by the microstructure analysis based on the Al and Mn *** design of experiment(DOE)technique,Taguchi method,was employed to minimize the intermetallic formation in the sludge of Mg alloys with various chemical compositions of Al,Mn,Fe,and different process parameters,holding temperature and holding *** sludge yield(Sy)and intermetallic size(IS)was selected as two *** optimum combination of the levels in terms of minimizing the intermetallic formation were 9 wt.%Al,0.15 wt.%Mn,0.001 wt.%(10 ppm)Fe,690℃ for the holding temperature and holding at 30 mins for the holding time,*** best combination for smallest intermetallic size were 9 wt.%Al,0.15 wt.%Mn,0.001 wt.%(10 ppm)Fe,630℃ for the holding temperature and holding at 60 mins for the holding time,*** groups of sludge factors,Chemical Sludge(CSF),Physical Sludge(PSF)and Comprehensive Sludge Factors(and CPSF)were established for prediction of sludge yields and intermetallic sizes in Al-containing Mg *** CPSF with five independent variables including both chemical elements and process parameters gave high accuracy in prediction,as the prediction of the PSF with only the two processing parameters of the melt holding temperature and time showed a relatively large deviation from the experimental *** Chemical Sludge Factor was primarily designed for small ingot producers and die casters with a limited melting and holding capacity,of which process parameters could be fixed *** Physical Sludge Factor could be used f

关键词： Magnesium sludge Al-Mn intermetallic Optimization Taguchi method Sludge factor Chemical composition Process parameter

Wind power potential over northern South America using ERA5-Land global reanalysis

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CLEAN ENERGy 2024年第2期8卷 104-112页

作者： Arregoces, Heli A. Bonivento, Guillermo j. Roj.no, Roberto Univ Guaj.ra Fac Ingn Grp Invest GISA Riohacha Colombia Univ Antioquia UdeA Fac Ingn SIU Grp Proc Fisicoquim Aplicados Calle 70 52-21 Medellin Colombia

The northernmost region of South America has great potential for wind energy production and is a strategic area for the energy transition. We analysed data from ERA5-Land global reanalysis from 1980 to 2020 to determine the wind power potential in this area. Our aim was to identify areas with a high potential for wind energy that could be used to supply energy in case of drought in the region or increases in fuel prices. We compared data from 19 meteorological stations located in Colombia with ERA5-Land reanalysis data to generate reliable information for the feasibility and operation of wind farms. According to our analysis, the Colombian Caribbean and Coastal Plain have monthly average wind speeds at 90 m ranging from 4.85 to 10.34 m/s and 3.79 to 6.62 m/s, respectively. Based on wind power density calculations, these regions have the highest wind power density in our study, with a monthly average of between 250 and 399 W/m2. The Caribbean Region had a 69% increase in wind power density from j.nuary to j.ly compared with the annual average. The wind power density in the plains increased from j.nuary to March, while the Mountain Region had higher anomalies from May to October. The Alta Guaj.ra and Paraguana Peninsula have great potential to generate wind energy due to their privileged geographical location. Although ERA5 offers valuable information about wind availability in time and space, it cannot represent the influence of local effects on wind patterns for the Mountain Region. Data from ERA5-Land global reanalysis (1980-2020) are used to determine the wind power potential in the northernmost region of South America to identify areas with a high potential for wind energy, which could be used to supply energy in case of drought or increases in fuel prices. Graphical Abstract

关键词： onshore wind power wind power potential ERA5-Land global reanalysis wind speed ENERGy COLOMBIA REGION ERA5