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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. 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 analyz. 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 homoz.gous 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 heteroz.gous, 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 heteroz.gotes, and homoz.gous 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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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. z.ng S. zhang 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 analyz.d. 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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Study on Electromagnetic Vibration Casting (EVC) of Magnesium Alloys

Study on Electromagnetic Vibration Casting (EVC) of Magnesiu...

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Second International Conference on Magnesium(ICM 2006)

作者： Q. C. Le, S. j. Guo, z. Q. zhang, j. z. Cui, z. z. z.ao Key Lab of EPM, Northeastern University, Shenyang, Liaoning 110004, China

Electromagnetic Vibration Casting (EVC) is a new effective technical processing for optimiz.ng solidification microstructures of light alloys. In this paper, this technology was induced into magnesium alloy DC casting for providing high-quality large diameter billets. The effects of vibration frequency and current intensities on the microstructures of large diameter billets were investigated. The results indicate that electromagnetic vibration would refine grains and the reduce macrosegregation effectively.

关键词： Magnesium alloys, electromagnetic vibration casting (EVC) DC casting

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Numerical Study of Flow Features Around Submerged Circular and Square Piles at Flat and Scoured Beds Using OpenFOAM

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j.urnal of Ocean University of China 2024年第4期23卷 897-914页

作者： WANG Chaolin WU Guoxiang WANG Dianhe DU Shengtao zhang z.iyong j.N Heng z.U David z. LIANG Bingchen Donghai Academy School of Civil&Environmental Engineering and Geography ScienceNingbo UniversityNingbo 315211China Key Laboratory of Estuary and Coast of z.ej.ang Province and Zhejiang Institute of Hydraulics and EstuaryHangzhou 310020China Shandong Provincial Key Laboratory of Ocean Engineering and College of EngineeringOcean University of ChinaQingdao 266100China Shandong Water Conservancy Vocational College Rizhao 276826China School of Mechanical and Energy Engineering Ningbotech UniversityNingbo 315211China

Elucidating the flow features around piles in local scouring processes is crucial for studies of local scouring mechanisms and scour depth *** study details the flow turbulence characteristics of two submerged piles that are determined by solving the Navier-Stokes equations with the improved delayed detached eddy simulation *** model is verified by comparing experimental and numerical results for hydrodynamic parameters with the literature for both square-crossing piles(SCPs)and circular-crossing piles(CCPs).Original topographies of flat and scoured beds(i.e.,the initial and equilibrium scouring stages)are based on experimental results obtained by the authors in the present *** and CCP flow features in the scouring process are *** results indicate that during the scouring process,the time-averaged drag coefficient and root mean square(rms)of the lift coefficient increase linearly in the CCP test,while the rms of the lift coefficient in the SCP test decreases ***,the minimum pressure coefficient is always located in the upstream corners in the SCP case but moves from 72.5°to 79.5°when the scour hole is completely developed in the CCP *** flow behind the pile,which is generated by separated boundary layers above the top face of the pile,can reach the sand bed and turn the separated shear layers into patches of small vortices in the near-wake ***,the high shear stress z.nes are mainly at the scour edges under scoured-bed conditions.

关键词： flat bed scoured bed local scour OpenFOAM bed shear stress

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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.zhang 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 characteriz. the degree of soil improvement by penetration inj.ction with permeable *** from on-site drilling monitoring shows that the linear z.nes 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 characteriz. 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 utiliz.ng 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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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 summariz., 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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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.z.ong 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 utiliz.tion 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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Distributed fixed-time observers for linear time-invariant systems

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Kongz.i yu j.ece/Control and Decision 2024年第11期39卷 3664-3672页

作者： zhang T. Wu H.-Y. z.u z.-H. z.eng X.-j. Guan z.-H. Engineering Research Center for Metallurgical Automation and Measurement Technology of Ministry of Education Wuhan University of Science and Technology Wuhan 430081 China Institute of Robotics and Intelligent Systems Wuhan University of Science and Technology Wuhan 430081 China School of Artificial Intelligence and Automation Huazhong University of Science and Technology Wuhan 430074 China

A class of distributed fixed-time convergent observers is designed based on the bi-limit weighted homogeneous approximation theory and observability decomposition for the distributed state estimation of linear time-invariant systems. Firstly, for a single-input-single-output integrating chain system, a centraliz.d fixed-time observer is designed for the system using bi-limit weighted homogeneous estimation. Then, the linear time-invariant system is decomposed into observable and unobservable subsystems based on the observability decomposition. Each agent in the sensor network reconstructs local observable sub-states in a fixed time based on the centraliz.d observer by using only the system output measurements, and then state information between the agents is used to construct a consistent algorithm to estimate the local unobservable sub-states in a fixed time, thus realiz.ng state omniscience in a fixed time. Unlike previous works, this paper does not need to construct a specific Lyapunov function to give an expression for the convergence time. Finally, the effectiveness of the designed observer is verified by simulations. © 2024 Northeast University. All rights reserved.

关键词： distributed estimation fixed-time observer linear systems observability decomposition sensor networks weighted homogeneity

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Precipitation of multi-type nano-quasicrystals in a Mg-z.-Y alloy

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j.urnal of Magnesium and Alloys 2024年第3期12卷 997-1008页

作者： W.z.Wang X.z.z.ou L.F.zhang H.Q.Ye z.Q.Yang Shenyang National Laboratory for Materials Science Institute of Metal ResearchChinese Academy of ScienceShenyang 110016China j. Hua Laboratory Foshan 528251China Foshan University Foshan 528231China

Mg-6z.-1Y(at.%)ribbons with strengthening precipitates of multi-type nanoquasicrystals were prepared by melt-spinning followed by aging *** evolution of the rapidly solidified ribbons during isothermal aging was comprehensively studied using various electron microscopy *** new kinds of decagonal quasicrystals were formed in aged ribbons,in addition to precipitation of nanometer icosahedral ***-resolution observations reveal that both decagonal quasicrystals can be modeled by quasiperiodic tiling with decagonal clusters of 2.5 nm in diameter,but overlap of neighboring clusters in both decagonal quasicrystals is different from the Gummelt model observed in other quasicrystals.A shell composed of complex Laves Mg-z. domains was formed surrounding each decagonal quasicrystal precipitate upon prolonged *** addition,all kinds of nanoprecipitates exhibit excellent structure and siz. stability at 573 *** findings may have implications for not only fundamental studies about quasicrystals,but also microstructural manipulation of high-performance Mg alloys.

关键词： Quasicrystal Mg alloys Rapid solidification Scanning-transmission electron microscopy.

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Leptin Modulates the Differentiation of Keratinocytes via Autophagy in Psoriasis Patients with Metabolic Syndrome

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International j.urnal of Dermatology and Venereology 2024年第3期7卷 121-130页

作者： Song C.-H. Wang R. z.ao z.-K. zhang Y. Sun j. zhang X. Ding X.-Y. Bai j. Liang X.-Q. Wei X.-j. Liu X.-L. Yang T. Liang X.-L. Li C.-X. Lin B.-W. Department of Dermatology PLA General Hospital Beijing 100853 China Department of Clinical Laboratory PLA General Hospital Beijing 100853 China Department of Dermatology Southern Medical University Guangdong Guangzhou 510515 China

Obj.ctive: Psoriasis is associated with a high prevalence of metabolic syndrome (MS), and patients with concomitant psoriasis and MS are more severely affected and less responsive to treatment. However, the molecular mechanisms behind these effects are unknown. Recent studies have shown that leptin may serve as a molecular link between psoriasis and MS, suggesting that high leptin concentrations may exacerbate psoriasis. However, the molecular mechanism of this effect is still unclear. We aimed to investigate the effect of leptin on autophagy in patients with psoriasis. Methods: From j.nuary 2021 to j.ne 2022 in PLA General Hospital, we enrolled 51 patients with psoriasis, including 21 patients with MS and 30 without MS, and 30 healthy controls who had undergone nevus surgery. We measured the epidermal leptin, P62, and LC3B concentrations of patients by immunohistochemistry, and measured the serum leptin concentration by enz.me-linked immunosorbent assay. We then performed correlation analyses to compare these proteins' concentrations between patients with concomitant psoriasis and MS, patients with psoriasis alone, and healthy control groups. Additionally, we performed western blotting after in vitro culture of HaCaT cells with different concentrations of leptin and measured the expression levels of the autophagy markers Beclin1, LC3B, and P62; the differentiation markers K10, K16, and K17; and PI3K/AKT/mTOR signaling pathway-related proteins of HaCat cells. Next, we transfected ATG5 into HaCaT cells to revert autophagy and used the specific PI3K inhibitor LY294002 to block PI3K/AKT/mTOR signaling. The expression levels of K10, K16, and K17 of HaCat cells were again measured. One-way analysis of variance was used for the comparison of means of multiple samples, and LSD-t post hoc test was used for comparison between the 2 groups. The counting data were analyz.d by the chi-square test. Correlations were evaluated by Pearson correlation analysis. Results: The serum l

关键词： autophagy keratinocyte differentiation leptin metabolic syndrome PI3K/AKT/mTOR psoriasis signal pathway

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