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Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population:a retrospective genotype-phenotype analysis of 105 patients

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World Journal of Pediatrics 2023年第7期19卷 674-686页

作者： Wei Wang Si-Hao Gao Min Weil Lin-qing Zhong Wei Liu Shan Jian Juan Xiao Cai-Hui Zhang Jian-Guo Zhang Xiao-Feng Zeng Wei-Bo Xia zheng-qing qiu Hong-Mei Song Department of Pediatrics Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeNo.1 ShuaifuyuanDongchengBeijing 100730China Department of Radiology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Orthopedic Surgery Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Rheumatology and Clinical Immunology Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China National Clinical Research Center for Dermatologic and Immunologic Diseases(NCRC-DID) Ministry of Science and TechnologyBeijing 100730China State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital(PUMCH)Beijing 100730China Key Laboratory of Rheumatology and Clinical Immunology Ministry of EducationBeijing 100730China Department of Endocrinology National Health Commission Key Laboratory of EndocrinologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China

Background Progressive pseudorheumatoid dysplasia(PPRD)is a rare genetic disease with autosomal recessive *** was a lack of genotype-phenotype correlation data from the Chinese *** study aimed to identify the genotype and phenotype characteristics of Chinese PPRD patients and to conduct a genotype-phenotype analysis of Chinese PPRD *** Genetic analysis was performed for suspected PPRD patients from Peking Union Medical College ***-cal records were collected from the electronic medical record system and patient-held portable health *** Chinese PPRD cases were gathered from both international and Chinese local *** collected demographic infor-mation,genetic variants,clinical manifestations,and imaging characteristics for further *** We included 105 Chinese PPRD patients in the current ***-three variants,including nine novels and five hotspot variants,were identified,with 26/33(79%)variants exclusively seen in the Chinese *** PPRD patients share a phenotype similar to that in international *** involvement may progress with age(R2=0.2541).Long bone shortening and severe deformities occur in three patients with biallelic null variants,of which at least one vari-ant is located in exon *** hotspot variants,c.624dupA(p.C209Mfs*21)were associated with later onset and more involved *** joints were more likely to be affected in patients carrying c.624dupA(p.C209Mfs*21)and c.866dupA(p.S209Efs*13).Shoulder joints are more likely to be involved in patients with biallelic null variants(P=0.027).Conclusions Chinese PPRD patients share a unique mutation *** the five hotspot variants,c.624dupA is associated with later onset of disease,more extensive joint involvement,and a tendency to affect elbow *** null variants with at least one variant in exon 2 could be a likely cause of long bone shortening and severe deformities.

关键词： CCN6 Genetics Mutations Progressive pseudorheumatoid dysplasia WISP3

Dimension by Dimension Finite Volume HWENO Method for Hyperbolic Conservation Laws

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Communications on Applied Mathematics and Computation 2024年第1期6卷 605-624页

作者： Feng zheng Jianxian qiu College of Mathematics and Statistics Fujian Normal UniversityFuzhou350117FujianChina School of Mathematical Sciences and Fujian Provincial Key Laboratory of Mathematical Modeling&High-Performance Scientific Computing Xiamen UniversityXiamen361005FujianChina

In this paper,we propose a finite volume Hermite weighted essentially non-oscillatory(HWENO)method based on the dimension by dimension framework to solve hyperbolic conservation *** can maintain the high accuracy in the smooth region and obtain the high resolution solution when the discontinuity appears,and it is compact which will be good for giving the numerical boundary ***,it avoids complicated least square procedure when we implement the genuine two dimensional(2D)finite volume HWENO reconstruction,and it can be regarded as a generalization of the one dimensional(1D)HWENO *** numerical tests are performed to verify the high resolution and high accuracy of the scheme.

关键词： Finite volume Dimension by dimension HWENO Hyperbolic conservation laws

Applications of mercury stable isotopes for tracing volcanism in the geologic record

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Science China Earth Sciences 2024年第5期67卷 1436-1458页

作者： qing GONG Ming-Xing LING Wang zheng State Key Laboratory of Nuclear Resources and Environment East China University of TechnologyNanchang 330013China School of Earth System Science Institute of Surface-Earth System ScienceTianjin UniversityTianjin 300072China

Mercury(Hg)enrichments in ancient sediments have been used as a proxy of volcanism,especially large igneous province(LIP)***,considering the existence of other potential Hg sources besides volcanoes and the diverse factors(e.g.,organic matters,clay minerals,sulfide minerals and Fe oxides)that can affect Hg sequestration,there are considerable uncertainties to simply regard sedimentary Hg anomalies as signatures of volcanic *** stable isotopes,a promising tool for tracing the origins and transformations of Hg,have been increasingly used for determining the causes of Hg spikes and understanding the geochemical behavior of Hg in the geologic *** date,lots of researches have applied Hg concentrations and Hg isotopes to identify LIP volcanisms linking with significant geological events such as mass extinctions,ocean anoxic events and other environmental perturbations that mainly occurred in the ***,the results in previous studies clearly show that not all Hg enrichments are derived from volcanic inputs,which emphasize the need for more caution in using Hg as a fingerprint of *** a better understanding of Hg isotopes in the future,there will be important implications for Hg isotopes to reconstruct volcanic activities in the rock records and their impacts on biological evolution.

关键词： Mercury stable isotopes Large igneous province Mass extinction event Ocean anoxic event

Targeted drug approvals in 2023:breakthroughs by the FDA and NMPA

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Signal Transduction and Targeted Therapy 2024年第3期9卷 813-821页

作者： Lang zheng Wenjing Wang qiu Sun Department of Biotherapy Cancer Center and State Key Laboratory of BiotherapyWest China HospitalSichuan UniversityChengdu 610041China West China Medical Publishers West China HospitalSichuan UniversityChengdu 610041China

According to the official website of China’s National Medicines and Pharmaceutical Administration(NMPA),a total of 87 novel drugs were approved in China in 2023,with targeted drugs accounting for 67.8%of the total,amounting to 59 drugs(Fig.1a;Table 1)[https://***/yaopin/ypjgdt/***].Notably,domestic innovation is flourishing,with five first-in-class drugs,including Glumetinib,a c-Met inhibitor from Haihe Biopharma;Leritrelvir,a 3CL protease inhibitor from Raynovent;Anaprazole,a proton pump inhibitor from Xuanzhu Biopharm;Pegol-Sihematide,an EPO drug from Hansoh Pharma;and Zuberitamab from BioRay Biopharmaceutical Co.,***,the world’s first allosteric inhibitor targeting TYK2,Sotyktu(deucravacitinib),has been approved for the treatment of psoriasis and Selumetinib,a MEK inhibitor co-developed by AstraZeneca and Merck Sharp&Dohme(MSD),became the first approved drug in China for the treatment of neurofibromatosis type I(NF1).Beyond these drugs,the approval of novel drug types such as CAR-T cell products,siRNA,monoclonal antibodies,dual antibodies,and ADCs in China is a significant development in the country’s pharmaceutical industry(Fig.1a).

关键词： drugs Merck approval

Improving the Short-Range Precipitation Forecast of Numerical Weather Prediction through a Deep Learning-Based Mask Approach

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Advances in Atmospheric Sciences 2024年第8期41卷 1601-1613页

作者： Jiaqi zheng qing LING Jia LI Yerong FENG School of Computer Science and Engineering/Guangdong Provincial Key Laboratory of Computational Science Sun Yat-Sen UniversityGuangzhou 510006China School of Mathematics Sun Yat-Sen UniversityGuangzhou 510275China Guangzhou Institute of Tropical and Marine Meteorology/Guangdong Provincial Key Laboratory of Regional Numerical Weather Prediction Guangzhou 510641China Shenzhen Institute of Meteorological Innovation Shenzhen 518038China

Due to various technical issues,existing numerical weather prediction(NWP)models often perform poorly at forecasting rainfall in the first several *** correct the bias of an NWP model and improve the accuracy of short-range precipitation forecasting,we propose a deep learning-based approach called UNet Mask,which combines NWP forecasts with the output of a convolutional neural network called *** UNet Mask involves training the UNet on historical data from the NWP model and gridded rainfall observations for 6-hour precipitation *** overlap of the UNet output and the NWP forecasts at the same rainfall threshold yields a *** UNet Mask blends the UNet output and the NWP forecasts by taking the maximum between them and passing through the mask,which provides the corrected 6-hour rainfall *** evaluated UNet Mask on a test set and in real-time *** results showed that UNet Mask outperforms the NWP model in 6-hour precipitation prediction by reducing the FAR and improving CSI *** tests also showed that different small rainfall thresholds applied to the UNet and the NWP model have different effects on UNet Mask's forecast *** study shows that UNet Mask is a promising approach for improving rainfall forecasting of NWP models.

关键词： deep learning numerical weather prediction(NWP) 6-hour quantitative precipitation forecast

Significantly Enhanced Energy Storage Performances of PEI-based Composites Utilizing Surface Functionalized ZrO_(2) Nanoparticles for High-Temperature Application

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Chinese Journal of Polymer Science 2024年第3期42卷 322-332,I0006页

作者： qing-qing Liu qiu-Hao Lin Xiao-Dong Qi Nan Zhang Ting Huang Jing-Hui Yang Yong Wang School of Chemistry Southwest Jiaotong UniversityChengdu 610031China Key Laboratory of Advanced Technologies of Materials Ministry of Education of ChinaSouthwest Jiaotong UniversityChengdu 610031China

Polymer dielectrics with a high energy density and an available energy storage capacity have been playing an important role in advanced electronics and power systems. Nevertheless, the use of polymer dielectrics in harsh environments is limited by their low energy density at high temperatures. Herein, zirconium dioxide(ZrO_(2)) nanoparticles were decorated with amino group utilizing 4,4-methylenebis(phenyl isocyanate)(AMEO) and successfully incorporated into polyetherimide(PEI) matrix. The dielectric properties, breakdown strength, and energy storage performances of PEI/ZrO_(2)-AMEO nanocomposites were investigated from 25 ℃ to 150 ℃. It is found that the combination of moderate bandgap ZrO_(2) with modest dielectric constant and polar groups at interface with deep trap can offer an available strategy to simultaneously increase the dielectric constant and breakdown strength of polymer dielectrics. As a result, the composites containing ZrO_(2)-AMEO exhibit excellent energy storage performance at elevated temperatures. Specially, the PEI-based composites with 3 vol% ZrO_(2)-AMEO display a maximum discharged energy density(U_(d)) of 3.1 J/cm^(3) at 150 ℃, presenting 90% higher than that of neat PEI. This study may help to better develop the polymer-based dielectric composite applied at elevated temperatures.

关键词： Polyetherimide High temperature dielectric ZrO_(2) Interface

Train-induced aerodynamic characteristics of vertical sound barriers influenced by several factors

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Railway Engineering Science 2024年第2期32卷 177-193页

作者： Xiaowei qiu Xiaozhen Li Jing zheng Ming Wang State Key Laboratory of Bridge Intelligent and Green Construction Southwest Jiaotong UniversityChengdu 611756SichuanChina Wind Engineering Key Laboratory of Sichuan Province Southwest Jiaotong UniversityChengdu 611756SichuanChina School of Architecture and Civil Engineering West Anhui UniversityLu’anAnhuiChina

Investigations into the aerodynamic properties of vertical sound barriers exposed to high-speed operations employ computational fluid *** primary focus of this research is to evaluate the influence of train speed and the distance(D)from the track centerline under various operating *** findings elucidate a marked elevation in the aerodynamic effect amplitude on sound barriers as train speeds *** single-train passages,the aerodynamic effect amplitude manifests a direct relationship with the square of the train *** two trains pass each other,the aerodynamic amplitude intensifies due to an additional aerodynamic increment on the sound *** increment exhibits an approximate quadratic correlation with the retrograde train ***,the impact of high-speed trains on sound barrier aerodynamics surpasses that of low-speed trains,and this discrepancy amplifies with larger speed differentials between ***,the train-induced aerodynamic effect diminishes significantly with greater distance(D),with occurrences of pressure coefficient(CP)exceeding the standard thresholds during dual-train *** study culminates in the formulation of universal equations for quantifying the influence of train speed and distance(D)on sound barrier aerodynamic characteristics across various operational scenarios.

关键词： Aerodynamic characteristic Sound barrier Two trains passing each other Distance from track centerline CFD simulation

Helmholtz decomposition with a scalar Poisson equation in elastic anisotropic media

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Petroleum Science 2024年第3期21卷 1597-1610页

作者： Xin-Yu Fang Gang Yao qing-qing zheng Ping-Min Zhang Di Wu Feng-Lin Niu State Key Laboratory of Petroleum Resources and Engineering China University of Petroleum(Beijing)Beijing102249China Unconventional Petroleum Research Institute China University of Petroleum(Beijing)Beijing102249China Department of Mathematics College of ScienceChina University of Petroleum(Beijing)Beijing102249China College of Geophysics China University of Petroleum(Beijing)Beijing102249China Department of Earth Environmental and Planetary SciencesRice UniversityHoustonTX77005UA

P-and S-wave separation plays an important role in elastic reverse-time *** can reduce the artifacts caused by crosstalk between different modes and improve image *** addition,P-and Swave separation can also be used to better understand and distinguish wave types in complex *** present,the methods for separating wave modes in anisotropic media mainly include spatial nonstationary filtering,low-rank approximation,and vector Poisson *** of these methods require multiple Fourier transforms or the calculation of large matrices,which require high computational costs for problems with large *** this paper,an efficient method is proposed to separate the wave mode for anisotropic media by using a scalar anisotropic Poisson operator in the spatial *** 2D problems,the computational complexity required by this method is 1/2 of the methods based on solving a vector Poisson ***,compared with existing methods based on pseudoHelmholtz decomposition operators,this method can significantly reduce the computational *** examples also show that the P and S waves decomposed by this method not only have the correct amplitude and phase relative to the input wavefield but also can reduce the computational complexity significantly.

关键词： Anisotropic media Scalar anisotropic Poisson equation Improved elastic wavefield decomposition

Alleviated photoinhibition on nitrification in the Indian Sector of the Southern Ocean

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Acta Oceanologica Sinica 2024年第7期43卷 52-69页

作者： Lingfang Fan Min Chen Zifei Yang Minfang zheng Yusheng qiu College of Ocean and Earth Sciences Xiamen UniversityXiamen 361102China

Nitrification,a central process in the marine nitrogen cycle,produces regenerated nitrate in the euphotic zone and emits N_(2)O,a potent greenhouse gas as a *** regulatory mechanisms of nitrification in the Southern Ocean,which is a critical region for CO_(2)sequestration and radiative benefits,remain poorly ***,we investigated the in situ and dark nitrification rates in the upper 500 m and conducted substrate kinetics experiments across the Indian Sector in the Cosmonaut and Cooperation seas in the late austral *** findings indicate that light inhibition of nitrification decreases exponentially with depth,exhibiting a light threshold of 0.53%photosynthetically active radiation.A positive relationship between dark nitrification and apparent oxygen utilization suggests a dependence on substrate availability from primary ***,an increased NH_(4)^(+) supply can act as a buffer against photo-inhibitory ***,substrate affinity(α)increases with depth and transitions from light to dark,decreases with increasing ambient NH_(4)^(+)and exhibits a latitudinal distribution,reflecting substrate utilization *** also reveal that upwelling in Circumpolar Deep Water(CDW)stimulates nitrification through the introduction of potentially higher iron and deep diverse nitrifying microorganisms with higherα.We conclude that although light is the primary limiting factor for nitrification in summer,coupling between substrate availability and CDW upwelling can overcome this limitation,thereby alleviating photoinhibition by up to 45%±5.3%.

关键词： nitrification light inhibition substrate affinity circumpolar deep water(CDW)upwelling the Southern Ocean