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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 Lab.ratory of Dermatology Research (Xj.S1707) Xinjiang Uygur Autonomous Region Urumqi 830001 China

Ob.ective: Xeroderma pigmentosum (XP) is a rare autosomal recessive dermatosis caused b. 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 b.ood samples from the patients and their family memb.rs. The patients' DNA was sequenced and detected b. Sanger sequencing, and gene mutations were screened. Results: The prob.nd in family 1 presented with b.own maculae at the exposure site and squamous cell carcinoma secondary to a facial rash. The prob.nd had a homozygous nucleotide variation of XPC c.2251-2A> G (A change from A to G in the penultimate position of the intron b.fore the 2251 position in the coding region), which was a shear mutation. In this family, b.th parents were heterozygous, and no similar mutation detected in the sister. In family 2, the prob.nd had scattered b.ack b.own spots and papules on the trunk and limb.. and his younger sister was also a patient. The prob.nd and his younger sister had homonucleotide variation of XPA c.631C> T, which was nonsense mutation, resulting in the codon for Arg No.211 b.ing 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 b.sis 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, pub.ished b. Wolters Kluwer, Inc.

关键词： gene mutation xeroderma pigmentosum XPA gene XPC gene

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世界核心医学期刊文摘（眼科学分册） 2006年第9期2卷 32-33页

作者： Danesh-Meyer H. V. gaskin b. j. j.yusundera T. 刘瑛(译) Department of Ophthalmology University of Auckland Auckland New Zealand 不详

Aim:To evaluate the relative diagnostic strength of cup to disc(C/D)ratio,clinical disc damage likelihood scale(DDLS),a new clinical method of documenting glaucomatous optic disc changes,and Heidelb.rg retina tomograph(HRT-II)in patients with glaucoma,glaucoma suspects,and normal ***:Consecutive ob.ervational case series.110 eyes from 110 patients categorised as glaucoma,glaucoma suspect,or normal were examined clinically to grade the DDLS ***-II examination was performed b. an examiner masked to the clinical examination *** disc parameters and Moorfields regression analysis findings were *** of the optic disc were examined independently b. two glaucoma specialists in masked fashion to determine the C/D *** SITA Standard 24-2 visual fields were ob.ained within 3 months of HRT-II and clinical *** each patient,the eye with the worse mean deviation of the visual field test was enrolled in the study,and each field was additionally graded b. the four level Hodapp-Parrish-II-Anderson *** and sensitivity were calculated b. receiver operating characteristic(ROC)***:Mean patient age was 58 years(SD 13.3)with 45 glaucoma patients,23 glaucoma suspects,and 42 *** mean deviation on Humphrey visual field assessment using SITA-Standard was-4.95 D(SD 5 D)Clinical examination using DDLS had the b.st predictive power with an area under the ROC curve value of 0.95 when glaucoma patients and suspects were separated from b.rderline or *** was followed b. clinical examination of C/D ratio(0.84),and HRT-II Moorfields analysis(0.68).The order of diagnostic strength did not change when definite glaucoma was compared to b.rderline and ***:The DDLS grading performs well compared to C/D ratio and HRT-II *** to disc diameter and to rim width may increase the value of clinical optic disc examination.

关键词：临床诊断价值青光眼患者视盘损害断层摄影杯盘比视网膜 HRT-Ⅱ Anderson

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A Modified Lagrange Method for Solving Convex Quadratic Optimization Prob.ems

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Open j.urnal of Optimization 2024年第1期13卷 1-20页

作者： Twum b. Stephen Avoka j.hn Christian j. Etwire School of Mathematical Science C. K. Tedam University of Technology and Applied Sciences Navrongo Ghana Department of Mathematics University for Development Studies Tamale Ghana

In this paper, a modified version of the Classical Lagrange Multiplier method is developed for convex quadratic optimization prob.ems. The method, which is evolved from the first order derivative test for optimality of the Lagrangian function with respect to the primary variab.es of the prob.em, decomposes the solution process into two independent ones, in which the primary variab.es are solved for independently, and then the secondary variab.es, which are the Lagrange multipliers, are solved for, afterward. This is an innovation that leads to solving independently two simpler systems of equations involving the primary variab.es only, on one hand, and the secondary ones on the other. Solutions ob.ained for small sized prob.ems (as preliminary test of the method) demonstrate that the new method is generally effective in producing the required solutions.

关键词： Quadratic Programming Lagrangian Function Lagrange Multipliers Optimality Conditions Sub.idiary Equations Modified Lagrange Method

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Water Vapor Information from Satellite and Its Applications

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Advances in Atmospheric Sciences 2024年第1期41卷 188-189页

作者： b.j.SOHN School of Earth and Environmental Sciences Seoul National UniversitySeoul 08826Korea

Water vapor is a critical component of the hydrological cycle b.cause it plays a vital role in transporting water from one part of the cycle to *** vapor evaporated from surfaces such as oceans,lakes,and rivers conden... 详细信息

关键词： motion oceans lakes

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Compressive property and energy ab.orption 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 Lab.ratory of b.onic Engineering(Ministry of Education) College of Biological and Agricultural EngineeringJilin UniversityChangchun130022PR China Weihai Institute for b.onics-j.lin University Weihai 264205PR China

In this study,interconnected porous Mg-2Zn-xY alloys with different phase compositions were prepared b. various Y additions(x=0.4,3,and 6 wt.%)to adj.st the compressive properties and energy ab.orption *** characterization methods were then applied to identify the microstructure of the porous Mg-Zn-Y and describ. 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 b.tween 0.4%and 6%,the compressive strength increases from 6.30MPa to 9.23 MPa,and the energy ab.orption capacity increases from 7.33 Mj.m^(3)to 10.97 Mj.m^(3)at RT,which is mainly attrib.ted to the phase composition and volume fraction of the second ***,the average energy ab.orption efficiency is independent of the Y *** addition,the compressive deformation b.haviors of the porous Mg-Zn-Y are altered b. the testing *** compressive strength and energy ab.orption capacity of the porous Mg-Zn-Y decrease due to the softening effect of the high temperature on the *** deformation b.haviors at different temperatures are finally ob.erved to reflect the failure mechanisms of the struts.

关键词： Porous magnesium Rare earth elements Microstructure Compressive b.havior Energy ab.orption characteristic

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Iron regulatory protein 1: the deadly switch of ferroptosis

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Neural Regeneration Research 2024年第3期19卷 477-478页

作者： Daniel A.b.rquez Pamela j.Urrutia Center for b.omedical Research Faculty of MedicineUniversidad Diego PortalesSantiagoChile Institute of Nutrition&Food Technology(INTA) Universidad de ChileSantiagoChile Geroscience Center for b.ain Health and Metab.lism SantiagoChile

Ferroptosis,an iron-dependent cell death:Ferroptosis is a type of regulated necrosis,characterized b. redox-active iron accumulation and increased free radical production derived b. Fenton chemistry,that triggers oxidation of polyunsaturated fatty acids in phospholipids,loss of cellular memb.anes integrity,and leakage of intracellular contents.

关键词： integrity switch Iron

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Leptin Modulates the Differentiation of Keratinocytes via Autophagy in Psoriasis Patients with Metab.lic 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. Zhao Z.-K. Zhang Y. Sun j. Zhang X. Ding X.-Y. b.i 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 Lab.ratory PLA General Hospital Beijing 100853 China Department of Dermatology Southern Medical University Guangdong Guangzhou 510515 China

Ob.ective: Psoriasis is associated with a high prevalence of metab.lic syndrome (MS), and patients with concomitant psoriasis and MS are more severely affected and less responsive to treatment. However, the molecular mechanisms b.hind these effects are unknown. Recent studies have shown that leptin may serve as a molecular link b.tween psoriasis and MS, suggesting that high leptin concentrations may exacerb.te 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 b. immunohistochemistry, and measured the serum leptin concentration b. enzyme-linked immunosorb.nt assay. We then performed correlation analyses to compare these proteins' concentrations b.tween patients with concomitant psoriasis and MS, patients with psoriasis alone, and healthy control groups. Additionally, we performed western b.otting after in vitro culture of HaCaT cells with different concentrations of leptin and measured the expression levels of the autophagy markers b.clin1, 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 inhib.tor LY294002 to b.ock 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 b.tween the 2 groups. The counting data were analyzed b. the chi-square test. Correlations were evaluated b. Pearson correlation analysis. Results: The serum l

关键词： autophagy keratinocyte differentiation leptin metab.lic syndrome PI3K/AKT/mTOR psoriasis signal pathway

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Thermo-kinetic characteristics on stab.lizing hetero-phase interface of metal matrix composites b. 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 Lab.ratory of Solidification Processing Northwestern Polytechnical UniversityXi’an 710072China Analytical&Testing Center Northwestern Polytechnical UniversityXi’an 710072China

Using dislocation-b.sed constitutive modeling in three-dimension crystal plasticity finite element(3D CPFE)simulations,co-deformation and instab.lity 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/b.c Cu-Nb.have b.en predicted under simple compressive ***,more severe strain-induced interface instab.lity can b. ob.erved in the fcc/b.c systems than in the fcc/fcc systems upon refining to metallic nanolayered composites(MNCs).b. detailed analysis of stress and strain localization,it has b.en demonstrated that the interface instab.lity is always accompanied b. 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 b.rrier Q during dislocation and shear b.nding can b. adopted to classify the deformation modes,following the so-called thermo-kinetic *** b. 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 estab.ishment of MMCs with the high△G-high Q deformation mode,which ensures high hardening and uniform strain distri-b.tion,thus efficiently suppressing the shear b.nd,stab.lizing the hetero-phase interface,and ob.aining an exceptional comb.nation in strength and *** hetero-phase interface chosen b. a couple of thermodynamics and kinetics can b. defined as b.eaking the thermo-kinetic correlation and has b.en proposed for artificially designing MNCs.

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

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Wavelet-b.sed numerical methods and their applications in computational mechanics

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Advances in Mechanics 2024年第3期54卷 427-476页

作者： Yang b. Wang j. Liu X. Zhou Y. Feng Y. Key Lab.ratory of Mechanics on Disaster and Environment in Western China The Ministry of Education of China College of Civil Engineering and Mechanics Lanzhou University Lanzhou 730000 China

Mechanics research advances towards interdisciplinary research, cross-scale correlations, and extreme environmental impacts. Strong nonlinearity, strong discontinuity, significant multi-physics coupling, multiscale, and complex geometries have b.come common characteristics in solving various mechanics prob.ems quantitatively. Long-term quantitative research indicates that one of the core ingredients for solving such prob.ems effectively lies in constructing numerical methods that can accurately identify, locate, capture, and separate different scale characteristics especially small-scale local characteristics, under multiscale and nonlinearity circumstances. These numerical methods should also possess the capacity to isolate and decouple the large-scale lower-order approximation from the small-scale higher-order truncation error effectively. The intrinsic multiresolution analysis and time-frequency localization characteristics of wavelet theory, as well as the various selectivity of b.sis functions, align precisely with the demands of this mathematical feature. Therefore, they can provide fundamental theory and diverse approaches for developing efficient quantitative methods to address various complex mechanics prob.ems. b.sed on this fact, this paper provides a comprehensive discussion of wavelet theory, focusing on the theoretical framework of b.orthogonal multi-resolution analysis and the construction method of frequently used wavelet b.ses. Furthermore, wavelet approximation of the function defined on a finite domain is presented in detail. The fundamental principles, development, merits, and shortcomings of different wavelet-b.sed numerical methods are systematically elucidated. Several novel wavelet-b.sed methods with outstanding performance developed recently are elab.rated especially, and their applications in solving typical mechanics prob.ems are reviewed. Meanwhile, the present paper also points out challenges encountered b. the existing wavelet-b.sed num

关键词： computational mechanics multiresolution analysis numerical methods wavelet adaptive algorithms wavelet theory

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Semi-analytical investigation of heat transfer in a porous convective radiative moving longitudinal fin exposed to magnetic field in the presence of a shape-dependent trihyb.id nanofluid

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Applied Mathematics and Mechanics(English Edition) 2024年第1期45卷 197-216页

作者： C.G.PAVITHRA b.j.GIREESHA M.L.KEERTHI Department of PG Studies and Research in Mathematics Kuvempu UniversityShankaraghatta 577451India Department of Mathematics and Statistics M.S.Ramaiah University of Applied SciencesBengaluru 560058India

The thermal examination of a non-integer-ordered mob.le fin with a magnetism in the presence of a trihyb.id nanofluid(Fe_3O_4-Au-Zn-b.ood) is carried out. Three types of nanoparticles, each having a different shape, are considered. These shapes include spherical(Fe_3O_4), cylindrical(Au), and platelet(Zn) configurations. The comb.nation approach is utilized to evaluate the physical and thermal characteristics of the trihyb.id and hyb.id nanofluids, excluding the thermal conductivity and dynamic viscosity. These two properties are inferred b. means of the interpolation method b.sed on the volume fraction of nanoparticles. The governing equation is transformed into a dimensionless form, and the Adomian decomposition Sumudu transform method(ADSTM) is adopted to solve the conundrum of a moving fin immersed in a trihyb.id nanofluid. The ob.ained results agree well with those numerical simulation results, indicating that this research is reliab.e. The influence of diverse factors on the thermal overview for varying noninteger values of γ is analyzed and presented in graphical representations. Furthermore, the fluctuations in the heat transfer concerning the pertinent parameters are studied. The results show that the heat flux in the presence of the comb.nation of spherical, cylindrical, and platelet nanoparticles is higher than that in the presence of the comb.nation of only spherical and cylindrical nanoparticles. The temperature at the fin tip increases b. 0.705 759% when the value of the Peclet numb.r increases b. 400%, while decreases b. 11.825 13% when the value of the Hartman numb.r increases b. 400%.

关键词： convection radiation moving longitudinal fin Adomian decomposition Sumudu transform method(ADSTM) trihyb.id nanofluid magnetic field

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