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Mental retardation,seizures and language delay caused by new SETD1b mutations:Three case reports

world Journal of Clinical Cases 2024年第2期12卷 383-391页

作者： Le Ding Li-wan wei Tai-song Li Jing Chen Department of Neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Chigene(beijing)Translational Medical Research Center Co.Ltd.Beijing 101111China

bACKGROUND The SETD1b gene is instrumental in human intelligence and nerve *** in the SETD1b gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language *** SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1b *** individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were *** article discusses the impact of the SETD1b gene mutation on patients and outlines the treatment *** the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had *** treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat *** exome sequencing revealed new mutations in the SETD1b gene for all patients,specifically with c.5473C>T(***1825trp),c.4120C>T(***1374*,593),c.14_15insC(***5Hisfs*33).CONCLUSION Possessing the SETD1b gene mutation may cause mental retardation accompanied by seizures and language *** the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of ***,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.

关键词： Neurodevelopmental disorder Seizure SETD1b gene whole-exome sequencing New mutation Case report

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主喜马拉雅逆冲断裂的横向变化控制2015年尼泊尔廓尔喀地震的破裂长度

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世界地震译丛 2020年第1期51卷 22-32页

作者： L.bai S.L.Klemperer J.Mori M.S.Karplus L.Ding H.b.Liu G.H.Li b.w.song S.Dhakal 江勇(译) 李国辉(译) 白玲(校) 不详中国科学院青藏高原研究所

喜马拉雅造山带大地震活动频繁,影响着长达2500km的人口密集地带。2015年尼泊尔廓尔喀地震(Mw7.8)发生在主喜马拉雅逆冲断裂(MHT)上,为陆陆碰撞带断裂活动特征的研究提供了最直接的观测资料。我们使用覆盖整个余震区的近震台站地震波形... 详细信息

喜马拉雅造山带大地震活动频繁,影响着长达2500km的人口密集地带。2015年尼泊尔廓尔喀地震(Mw7.8)发生在主喜马拉雅逆冲断裂(MHT)上,为陆陆碰撞带断裂活动特征的研究提供了最直接的观测资料。我们使用覆盖整个余震区的近震台站地震波形数据对MHT进行研究。结果表明,MHT沿构造走向呈现清晰的横向变化,在主震区存在低喜马拉雅断坡,而在余震区东部变得更深且倾角更加平缓。余震区以东MHT界面上的地震波速表现为高速异常,可能与印度板块基底隆起的俯冲结构有关,余震区以西同样存在地震波速异常。MHT的总体形态结构变化控制了廓尔喀地震的破裂长度。

关键词：喜马拉雅造山带逆冲断裂破裂长度横向变化大地震尼泊尔控制地震波形数据

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Type I interferon pathway in pediatric systemic lupus erythematosus

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world Journal of Pediatrics 2024年第7期20卷 653-668页

作者： Yu Zhou Hong‑Mei song Department of Pediatrics Peking Union Medical College HospitalChinese Academy of Medical SciencesBeijingChina State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College HospitalBeijingChina

background The role of type I interferon(IFN-I)signaling in systemic lupus erythematosus(SLE)has been well ***,unanswered questions remain regarding the applicability of these findings to pediatric-onset *** aim of this review is to provide an overview of the novel discoveries on IFN-I signaling in pediatric-onset *** sources A literature search was conducted in the PubMed database using the following keywords:“pediatric systemic lupus erythematosus”and“type I interferon”.Results IFN-I signaling is increased in pediatric SLE,largely due to the presence of plasmacytoid dendritic cells and pathways such as cyclic GMP-AMP synthase–stimulator of interferon genes–TANK-binding kinase 1 and Toll-like receptor(TLR)4/*** extracellular traps and oxidative DNA damage further stimulate IFN-I *** variants in IFN-I-related genes,such as IFN-regulatory factor 5 and tyrosine kinase 2,are linked to SLE susceptibility in pediatric *** addition,type I interferonopathies,characterized by sustained IFN-I activation,can mimic SLE symptoms and are thus important to *** on interferonopathies also contribute to exploring the pathogenesis of *** IFN-I activation is crucial for SLE diagnosis and *** IFNstimulated gene expression and serum IFN-α2 levels are common *** cytometry markers such as CD169 and galectin-9 are promising ***-IFN therapies,such as sifalimumab and anifrolumab,show promise in adult patients with SLE,but their efficacy in pediatric patients requires further *** kinase inhibitors are another treatment option for severe pediatric SLE *** This review presents an overview of the IFN-I pathway in pediatric *** the intricate relationship between IFN-I and pediatric SLE may help to identify potential diagnostic markers and targeted therapies,paving the way for improved patient care and outcomes.

关键词： Interferonopathies Pediatric systemic lupus erythematosus Type I interferon

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Effectiveness and safety of tenofovir amibufenamide in chronic hepatitis b patients

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world Journal of Gastroenterology 2024年第26期30卷 3261-3263页

作者： Li-Yang Meng Chao-Ting Yang Jian-Feng bao Jin-song Huang The Fourth Clinical Medical College Zhejiang Chinese Medical UniversityHangzhou 310053Zhejiang ProvinceChina Department of Hepatology Hangzhou Xixi HospitalZhejiang University School of MedicineHangzhou 310023Zhejiang ProvinceChina

This letter to the editor relates to the study entitled“Tenofovir amibufenamide vs tenofovir alafenamide for treating chronic hepatitis b:A real-world study”,which was recently published by Peng et *** b virus infection represents a significant health burden worldwide and can lead to cirrhosis and even liver *** antiviral drugs currently used to treat patients with chronic hepatitis b infection still have many side effects,so it is crucial to identify safe and effective drugs to inhibit viral replication.

关键词： Tenofovir amibufenamide Chronic hepatitis b Non-alcoholic fatty liver disease Alanine transaminase normalization Virological response

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Icariin plus curcumol enhances autophagy through the mTOR pathway and promotes cathepsin b-mediated pyroptosis of prostate cancer cells

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Asian Pacific Journal of Tropical biomedicine 2024年第2期14卷 55-64页

作者： Xu-Yun wang wen-Jing Xu bo-Nan Li Tian-song Sun wen Sheng Department of Andrology Beijing Hospital of Traditional Chinese MedicineCapital Medical UniversityBeijing100010China Department of Dermatology The First Affiliated Hospital of Hunan University of Chinese MedicineChangsha410021China School of Integrated Chinese and western Medicine Hunan University of Chinese MedicineChangsha410208China Andrology Laboratory Hunan University of Chinese MedicineChangsha410208China School of Rehabilitation Medicine and Health Care Hunan University of MedicineHuaihua418000China School of Traditional Chinese Medicine Hunan University of MedicineHuaihua418000China

Objective:To examine the effect of icariin plus curcumol on prostate cancer cells PC3 and elucidate the underlying ***:we employed the Cell Counting Kit 8 assay and colony formation assay to assess cell viability and *** expression was analyzed using monodansylcadaverine *** and western blot analyses were used to evaluate protein expressions related to autophagy,pyroptosis,and the mTOR *** damage was examined using the lactate dehydrogenase ***,cathepsin b and NLRP3 were detected by ***:Icariin plus curcumol led to a decrease in PC3 cell proliferation and an enhancement of *** levels of LC3-Ⅱ/LC3-Ⅰand beclin-1 were increased,while the levels of p62 and mTOR were decreased after treatment with icariin plus *** changes were reversed upon overexpression of ***,3-methyladenine resulted in a decrease in inflammatory cytokines,pyroptosis-related protein levels,and lactate dehydrogenase concentration,compared to the icariin plus curcumol *** cathepsin b reversed the regulatory effects of icariin plus ***:Icariin plus curcumol demonstrates great potential as a therapeutic agent for castration-resistant prostate cancer by enhancing autophagy via the mTOR pathway and promoting pyroptosis mediated by cathepsin *** findings provide valuable insights into the molecular mechanisms underlying the therapeutic potential of icariin and curcumol for prostate cancer treatment.

关键词： Icariin Curcumol Autophagy mTOR Cathepsin b Pyroptosis Prostate cancer

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Stationary Almost Markov ε-Equilibria for Discounted Stochastic Games with borel Spaces and Unbounded Payoffs

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Journal of Systems Science & Complexity 2024年第4期37卷 1672-1684页

作者： wU Yiting ZHANG Junyu HUANG song School of Mathematics Sun Yat-Sen UniversityGuangzhou 510275China School of Software and Microelectronics Peking UniversityBeijing 100871China

This paper is concerned with nonzero-sum discrete-time stochastic games in borel state and action spaces under the expected discounted payoff *** payoff function can be *** transition probability is a convex combination of finite probability measures that are dominated by a probability measure on the state space and depend on the state *** suitable conditions,the authors establish the existence of stationary almost Markov ε-equilibria and give an approximation method via some stochastic games with bounded ***,a production game is introduced to illustrate the applications of the main result,which generalizes the bounded payoff case.

关键词： Almost Markovε-equilibrium borel state space expected discounted payoff criterion nonzero-sum stochastic games unbounded payoffs

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Strategic Study on the Development of Space Science in China and Proposals for Future Missions

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空间科学学报 2024年第4期44卷 699-703页

作者： wANG Chi song Tingting LI Ming CAO song National Space Science Center Chinese Academy of SciencesBeijing 100190

Since 2011,the Chinese Academy of Sciences(CAS)has implemented the Strategic Priority Program on Space Science(SPP).A series of scientific satellites have been developed and launched,such as Dark Matter Particle Explorer(DAMPE),Quantum Experiments at Space Scale(QUESS),Advanced Space-based Solar Observatory(ASO-S),Einstein Probe(EP),and significant scientific outcomes have been *** order to plan the future space science missions in China,CAS has organized the Chinese space science community to conduct medium and long-term development strategy studies,and summarized the major scientific frontiers of space science as“One black,Two Dark,Three Origins and Five Characterizations”.Five main scientific themes have been identified for China’s future breakthroughs,including the Extreme Universe,Space-Time Ripples,the Panoramic View of the Sun and Earth,the Habitable Planets,and biological&Physical Science in *** science satellite missions to be implemented before 2030 are proposed accordingly.

关键词： Space science Space missions Space exploration

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Discovering the ultralow thermal conductive A_(2)b_(2)O_(7)-type high-entropy oxides through the hybrid knowle dge-assiste d data-driven machine learning

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Journal of Materials Science & Technology 2024年第1期168卷 131-142页

作者： Ying Zhang Ke Ren william Yi wang Xingyu Gao Ruihao Yuan Jun wang Yiguang wang Haifeng song Xiubing Liang Jinshan Li State Key Laboratory of Solidification Processing Northwestern Polytechnical UniversityXi’an 710072China Innovation Center NPU ChongqingChongqing 401135China Institute of Advanced Structure Technology Beijing Institute of TechnologyHaidian DistrictBeijing 100081China Laboratory of Computational Physics Institute of Applied Physics and Computational MathematicsBeijing 100088China Defense Innovation Institute Academy of Military Sciences of the PLA of ChinaBeijing 100071China

Lattice engineering and distortion have been considered one kind of effective strategies for discovering advanced *** instinct chemical flexibility of high-entropy oxides(HEOs)motivates/accelerates to tailor the target properties through phase transformations and lattice ***,a hybrid knowledge-assisted data-driven machine learning(ML)strategy is utilized to discover the A_(2)b_(2)O_(7)-type HEOs with low thermal conductivity(κ)through 17 rare-earth(RE=Sc,Y,La-Lu)solutes optimized A-site.A designing routine integrating the ML and high throughput first principles has been proposed to predict the key physical parameter(KPPs)correlated to the targetedκof advanced *** the smart-designed 6188(5RE_(0.2))_(2)Zr_(2)O_(7)HEOs,the best candidates are addressed and validated by the princi-ples of severe lattice distortion and local phase transformation,which effectively reduceκby the strong multi-phonon scattering and weak interatomic ***,(Sc_(0.2)Y_(0.2)La_(0.2)Ce_(0.2)Pr_(0.2))_(2)Zr_(2)O_(7)with predictedκbelow 1.59 wm^(−1)K^(−1)is selected to be verified,which matches well with the ex-perimentalκ=1.69 wm^(−1)K^(−1)at 300 K and could be further decreased to 0.14 wm^(−1)K^(−1)at 1473 ***,the coupling effects of lattice vibrations and charges on heat transfer are revealed by the cross-validations of various models,indicating that the weak bonds with low electronegativity and few bond-ing charge density and the lattice distortion(r∗)identified by cation radius ratio(r A/r b)should be the KPPs to decreaseκ*** work supports an intelligent designing strategy with limited atomic and electronic KPPs to accelerate the development of advanced multi-component HEOs with proper-ties/performance at multi-scales.

关键词： High-entropy oxides Thermal conductivity Pyrochlore Key physical parameter First-Principles

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Dietary Macleaya cordata extract supplementation improves the growth performance and gut health of broiler chickens with necrotic enteritis

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Journal of Animal Science and biotechnology 2024年第1期15卷 374-395页

作者： bochen song Jie He Xue Pan Linglian Kong Chuanpi Xiao Chake Keerqin Zhigang song Key Laboratory of Efficient Utilization of Non‑Grain Feed Resources College of Animal Science and TechnologyShandong Agricultural UniversityTaian 271018ShandongChina Center for Mitochondria and Healthy Ageing College of Life SciencesYantai UniversityYantai 264005ShandongChina Precision Livestock and Nutrition Unit University of LiègeGembloux Agro‑Bio TechGemblouxBelgium Phytobiotics(Jiangsu)biotech Co. Ltd.Jintan 213200China

background The poultry industry needs effective antibiotic alternatives to control outbreaks of necrotic enteritis(NE)caused by Clostridium *** The aim of this study was to investigate the effects of dietary supplementation with Macleaya cordata extract(MCE)on the immune function and gut microbiota of broilers with NE.A total of 2881-day-old broiler chicks were randomly assigned to a 2×2 factorial arrangement with two concentrations of dietary MCE supplementation(0 or 350 mg/kg of diet)and two disease challenge statuses(control or NE).Results The results revealed that NE significantly increased the feed conversion rate(FCR),mortality,intestinal lesion score,the levels of IL-1β,IL-17 and IFN-γ/IL-4 in serum and IL-17/IL-10 in the jejunal mucosa,m RNA levels of TLR2,IFN-γand p Ig R in the jejunum,and Clostridium perfringens concentrations in the *** significantly decreased the body weight(bw),body weight gain(bwG),jejunal villus height,V/C,m RNA level of AMPK-α1 in jejunum,IL-4 level in the jejunal mucosa and lactic acid bacteria abundance in the *** significantly increased bw,bwG,jejunal villus height,V/C,m RNA levels of occludin,ZO-1 and AMPK-α1 in the jejunum,the levels of Ig A and Ig G in serum and IL-10 in the jejunal mucosa and m RNA levels of NF-κb,IL-10 and MHC-II in the ***,MCE significantly decreased the FCR,mortality,intestinal lesion score,jejunal crypt depth,the levels of IFN-γand IL-17 in serum and IL-17/IL-10 in the jejunal mucosa,Clostridium perfringens concentrations in the cecum,and m RNA levels of IL-17/IL-10 in the ***,NE significantly increased the abundance of bacteria that are associated with inflammation,obesity and depression(Alistipes,barnesiella,Intestinimonas,RF39 and UCG-005)and significantly decreased the abundance of short-chain fatty acid(SCFA)-producing bacteria(Anaerotruncus,butyricicoccus and bacteroides)in the *** significantly increased the abundance of SCFA-producing b

关键词： broiler chicken Gut microbiota Immune function Macleaya cordata extract Necrotic enteritis

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Analysis of thermal management and anti-mechanical abuse of multi-functional battery modules based on magneto-sensitive shear thickening fluid

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Applied Mathematics and Mechanics(English Edition) 2024年第3期45卷 529-542页

作者： Yang XIONG bo LU Yicheng song Junqian ZHANG Shanghai Key Laboratory of Mechanics in Energy Engineering Shanghai Frontier Science Center of MechanoinformaticsShanghai Institute of Applied Mathematics and MechanicsSchool of Mechanics and Engineering ScienceShanghai UniversityShanghai 200444China Zhejiang Laboratory Hangzhou 311100China

Electric vehicles(EVs)have garnered significant attention as a vital driver of economic growth and environmental ***,ensuring the safety of high-energy batteries is now a top priority that cannot be overlooked during large-scale *** paper proposes an innovative active protection and cooling integrated battery module using smart materials,magneto-sensitive shear thickening fluid(MSTF),which is specifically designed to address safety threats posed by lithium-ion batteries(LIbs)exposed to harsh mechanical and environmental *** theoretical framework introduces a novel approach for harnessing the smoothed-particle hydrodynamics(SPH)methodology that incorporates the intricate interplay of non-Newtonian fluid behavior,capturing the fluid-structure coupling inherent to the *** approach is further advanced by adopting an enhanced Herschel-bulkley(H-b)model to encapsulate the intricate rheology of the MSTF under the influence of the magnetorheological effect(MRE)and shear thickening(ST)*** simulation results show that in the case of cooling,the MSTF is an effective cooling medium for rapidly reducing the *** terms of mechanical abuse,the MSTF solidifies through actively applying the magnetic field during mechanical compression and impact within the battery module,resulting in 66%and 61.7%reductions in the maximum stress within the battery jellyroll,and 31.1%and 23%reductions in the reaction force,*** mechanism effectively lowers the risk of short-circuit *** groundbreaking concepts unveiled in this paper for active protection battery modules are anticipated to be a valuable technological breakthrough in the areas of EV safety and lightweight/integrated design.

关键词： magneto-sensitive shear thickening fluid(MSTF) battery module impact protection temperature control integrated design

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