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

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International journal 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 Xinjiang Clinical Research Center for Dermatologic Diseases Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinjiang Key Laboratory of Dermatology Research (XjYS1707) Xinjiang Uygur Autonomous Region Urumqi 830001 China

Objective: 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 Xinjiang 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

Greatly enhanced corrosion/wear resistances of epoxy coating for Mg alloy through a synergistic effect between functionalized graphene and insulated blocking layer

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journal of Magnesium and Alloys 2024年第1期12卷 332-344页

作者： Z.Y.Xue X.j.Li j.H.Chu M.M.Li D.N.Zou L.B.Tong School of Metallurgical Engineering Xi’an University of Architecture and TechnologyXi’an 710055China State Key Laboratory of Advanced Design and Manufacturing for Vehicle Body Hunan UniversityChangsha 410082China

The poor corrosion and wear resistances of Mg alloys seriously limit their potential applications in various *** conventional epoxy coating easily forms many intrinsic defects during the solidification process,which cannot provide sufficient *** the current study,we design a double-layer epoxy composite coating on Mg alloy with enhanced anti-corrosion/wear properties,via the spin-assisted assembly *** outer layer is functionalized graphene(FG)in waterborne epoxy resin(WEP)and the inner layer is Ce-based conversion(Ce)*** FG sheets can be homogeneously dispersed within the epoxy matrix to fill the intrinsic defects and improve the barrier *** Ce film connects the outer layer with the substrate,showing the transition *** corrosion rate of Ce/WEP/FG composite coating is 2131 times lower than that of bare Mg alloy,and the wear rate is decreased by~90%.The improved corrosion resistance is attributed to the labyrinth effect(hindering the penetration of corrosive medium)and the obstruction of galvanic coupling *** synergistic effect derived from the FG sheet and blocking layer exhibits great potential in realizing the improvement of multi-functional integration,which will open up a new avenue for the development of novel composite protection coatings of Mg alloys.

关键词： Mg alloy Functionalized graphene Epoxy coating Corrosion/wear resistance Blocking layer

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. Rojano, Roberto Univ Guajira 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 january to july compared with the annual average. The wind power density in the plains increased from january to March, while the Mountain Region had higher anomalies from May to October. The Alta Guajira 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

Stability Analysis and Performance Evaluation of Additive Mixed-Precision Runge-Kutta Methods

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Communications on Applied Mathematics and Computation 2024年第1期6卷 705-738页

作者： Ben Burnett Sigal Gottlieb Zachary j.Grant Center for Scientific Computing and Data Science Research UMass DartmouthNorth DartmouthMassachusettsUSA CSME Michigan State UniversityEast LansingMichiganUSA

Additive Runge-Kutta methods designed for preserving highly accurate solutions in mixed-precision computation were previously proposed and *** specially designed methods use reduced precision for the implicit computations and full precision for the explicit *** this work,we analyze the stability properties of these methods and their sensitivity to the low-precision rounding errors,and demonstrate their performance in terms of accuracy and *** develop codes in FORTRAN and julia to solve nonlinear systems of ODEs and PDEs using the mixed-precision additive Runge-Kutta(MP-ARK)*** convergence,accuracy,and runtime of these methods are *** show that for a given level of accuracy,suitably chosen MP-ARK methods may provide significant reductions in runtime.

关键词： Mixed precision Runge-Kutta methods Additive methods Accuracy

Transabdominal intestinal ultrasound and its parameters used in the assessment of pediatric inflammatory bowel disease

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World journal of Clinical Pediatrics 2024年第3期13卷 137-140页

作者： Kevan j English Department of Medicine-Pediatrics St.George's University School of MedicineSaint George's 33334Saint GeorgeGrenada

This article extends on the use of transabdominal intestinal ultrasound in diagnosing pediatric inflammatory bowel *** of the more essential features used in assessing bowel inflammation,such as hyperemia and wall thickness on ultrasound,are expanded upon from the publication on imaging and endoscopic tools in pediatric inflammatory bowel disease.

关键词： Inflammatory bowel disease Intestinal ultrasound Limberg score Hyperemia Bowel wall thickness

Organic petrographic and mineralogical composition of the No. 6 coal seam of the Soutpansberg Coalfield, South Africa: Insights into paleovegetation and depositional environment

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International journal of Coal Science & Technology 2024年第3期11卷 190-207页

作者： Sanki Biswas Nicola j.Wagner Ofentse M.Moroeng DSI-NRF CIMERA/PPM Research Group Department of GeologyUniversity of JohannesburgJohannesburgSouth Africa

This study investigates the paleodepositional conditions of the No.6 Seam of the Madzaringwe Formation in Makhado and Voorburg south area of the Soutpansberg Coalfield(Limpopo Province,South Africa)utilizing organic petrography and inorganic geochemical *** coals are predominantly high-volatile bituminous B-A rank with high ash yields(avg.36.1 wt%),characterized by high-vitrinite(~41.5 vol%),moderate-to-high inertinite(9.8 vol%–33.7 vol%)and low liptinite(~2.3 vol%).The distribution of inertinite varies among different coal horizons(from bottom-lower to middle-upper),suggesting differential oxidation conditions and/or paleofire ***-to-inertinite(V/I)ratio,tissue preservation–gelification index(TPI–GI),and groundwater–vegetation index(GWI–VI)plots,indicate that the peat-forming forest-swamp vegetation accumulated under mesotrophic-to-rheotrophic hydrological *** presence of structured macerals(i.e.,telinite,collotelinite,fusinite,and semifusinite)suggests well-preserved plant tissues,whereas framboidal pyrite and sulphur content(0.24 wt%–2.16 wt%)point to brackish-water influence at the peat *** coals contain quartz,kaolinite,siderite,muscovite,dolomite,calcite,and pyrite minerals,most of which were likely sourced from felsic igneous *** Al/(Al+Fe+Mn)and(Fe+Mn)/Ti ratios for the studied samples range between 0.24–0.97 and 0.57–70.10,*** ratios,Al–Fe–Mn plot,and presence of massive botryoidal-type pyrite imply some influence of meteoric waters or fluids from hydrothermal activity ***,the chemical index of alteration(CIA:98.25–99.67),chemical index of weathering(CIW:92.04–97.66),and A–CN–K ternary diagram suggest inorganic matter suffered strong chemical weathering,indicating warm paleoclimatic conditions during the coal formation.

关键词： Macerals Coal facies Geochemical-indices Hydrothermal Madzaringwe formation Soutpansberg Coalfield

Convexification of Hybrid AC-DC Optimal Power Flow with Line-Commutated Converters

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CSEE journal of Power and Energy Systems 2024年第2期10卷 617-628页

作者： Hongyuan Liang Zhigang Li j.H.Zheng Q.H.Wu School of Electric Power Engineering South China University of TechnologyGuangzhou 510641China

Line-commutated converter (LCC)-based high-voltage DC (HVDC) systems have been integrated with bulk AC power grids for interregional transmission of renewable power. The nonlinear LCC model brings additional nonconvexity to optimal power flow (OPF) of hybrid AC-DC power grids. A convexification method for the LCC station model could address such nonconvexity but has rarely been discussed. We devise an equivalent reformulation for classical LCC station models that facilitates second-order cone convex relaxation for the OPF of LCC-based AC-DC power grids. We also propose sufficient conditions for exactness of convex relaxation with its proof. Equivalence of the proposed LCC station models and properties, exactness, and effectiveness of convex relaxation are verified using four numerical simulations. Simulation results demonstrate a globally optimal solution of the original OPF can be efficiently obtained from relaxed model.

关键词： AC-DC power system convex relaxation linecommutated converter optimal power flow second-order cone programming

A REDUCED ORDER SCHWARZ METHOD FOR NONLINEAR MULTISCALE ELLIPTIC EQUATIONS BASED ON TWO-LAYER NEURAL NETWORKS

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journal of Computational Mathematics 2024年第2期42卷 570-596页

作者： Shi Chen Zhiyan Ding Qin Li Stephen j.Wright Mathematics Department University of Wisconsin-MadisonMadisonWI 53706USA Department of Mathematics University of California-BerkeleyBerkeley CA 94720USA Mathematics Department and Discovery Institute University of Wisconsin-Madison MadisonWI 53706USA Computer Sciences Department University of WisconsinMadisonWI 53706USA

Neural networks are powerful tools for approximating high dimensional data that have been used in many contexts,including solution of partial differential equations(PDEs).We describe a solver for multiscale fully nonlinear elliptic equations that makes use of domain decomposition,an accelerated Schwarz framework,and two-layer neural networks to approximate the boundary-to-boundarymap for the subdomains,which is the key step in the Schwarz ***,the boundary-to-boundary map requires solution of boundary-value elliptic problems on each *** leveraging the compressibility of multiscale problems,our approach trains the neural network offline to serve as a surrogate for the usual implementation of the boundary-to-boundary *** method is applied to a multiscale semilinear elliptic equation and a multiscale p-Laplace *** both cases we demonstrate significant improvement in efficiency as well as good accuracy and generalization performance.

关键词： Nonlinear homogenization Multiscale elliptic problem Neural networks Do-main decomposition

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 trihybrid 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 mobile fin with a magnetism in the presence of a trihybrid nanofluid(Fe_3O_4-Au-Zn-blood) 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 combination approach is utilized to evaluate the physical and thermal characteristics of the trihybrid and hybrid nanofluids, excluding the thermal conductivity and dynamic viscosity. These two properties are inferred by means of the interpolation method based 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 trihybrid nanofluid. The obtained results agree well with those numerical simulation results, indicating that this research is reliable. 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 combination of spherical, cylindrical, and platelet nanoparticles is higher than that in the presence of the combination of only spherical and cylindrical nanoparticles. The temperature at the fin tip increases by 0.705 759% when the value of the Peclet number increases by 400%, while decreases by 11.825 13% when the value of the Hartman number increases by 400%.

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