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Mental retardation,seizures and language delay caused by new SeTD1b mutations:Three case reports

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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

Understanding Surface Water-Groundwater Conversion Relationship and Associated Hydrogeochemistry evolution in the Upper Reaches of Luan River basin, North China

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Journal of earth Science 2024年第3期35卷 1010-1023页

作者： le Zhao Chunli Su Wenbo Liu Xianjun Xie School of environmental Studies China University of GeosciencesWuhan 430078China State environmental Protection Key Laboratory of Source Apportionment and Control of Aquatic Pollution Ministry of Ecology and EnvironmentWuhan 430078China China Geological environmental Monitoring Institute Beijing 100081China

Luan River is the main water source in beijing-Tianjin-Hebei region,northern China,where the groundwater system is vulnerable and pollution issue is *** is significant for regional groundwater resources protection to identify the hydrogeochemistry evolution and affecting factors along flow direction occurred in the upper reaches,especially the surface water-groundwater(SWGW)conversion *** this study,recharge,conversion and geochemistry evolution of SW and GW were elucidated based on physical-hydrochemical indicators and stable isotopes in 36 GW samples and 20 SW samples,which were collected in July 2019 and July *** factor analysis was further utilized to determine the main factors responsible for regional hydrogeochemical *** indicate that GW recharged SW in plateau area,and SW and GW recharged each other in typical Alpine valley *** hydrochemical types are HCO3-Ca·Mg and HCO3-Ca,and the hydrochemical evolution is dominated by weathering of silicate and carbonate *** cation exchange adsorption has minor impact on groundwater *** rise of SO42-and NO3-contents in groundwater is related to industrial and agricultural *** main controlling factors of SW hydrochemical components included recharge from groundwater,industrial and mining activities,explaining 90.04%of data ***,water-rock interaction,agricultural and domestic sewage are responsible for GW quality,accounting for 83.38%.

关键词： groundwater water sources conversion relationship hydrogeochemical characteristics evolutional processes water-rock interaction factor analysis Luan River basin.

Therapeutic advances in atrial fibrillation based on animal models

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Journal of Zhejiang University-Science b(biomedicine & biotechnology) 2024年第2期25卷 135-152页

作者： Qian GONG Xuan le Pengcheng YU lenan ZHUANG Institute of Genetics and Reproduction College of Animal SciencesZhejiang UniversityHangzhou310058China Key Laboratory of Cardiovascular Intervention and Regenerative Medicine of Zhejiang Province Department of CardiologySir Run Run Shaw HospitalSchool of MedicineZhejiang UniversityHangzhou310016China

Atrial fibrillation(AF)is the most prevalent sustained cardiac arrhythmia among humans,with its incidence increasing significantly with *** the high frequency of AF in clinical practice,its etiology and management remain *** develop effective treatment strategies,it is imperative to comprehend the underlying mechanisms of AF;therefore,the establishment of animal models of AF is vital to explore its *** spontaneous AF is rare in most animal species,several large animal models,particularly those of pigs,dogs,and horses,have proven as invaluable in recent years in advancing our knowledge of AF pathogenesis and developing novel therapeutic *** review aims to provide a comprehensive discussion of various animal models of AF,with an emphasis on the unique features of each model and its utility in AF research and *** data summarized in this review provide valuable insights into the mechanisms of AF and can be used to evaluate the efficacy and safety of novel therapeutic interventions.

关键词： Atrial fibrillation Animal model Therapeutic

Theoretical study of the nonlinear force-loading control in single-molecule stretching experiments

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Communications in Theoretical Physics 2024年第4期76卷 167-175页

作者： Xingyu Qi Zilong Guo Shimin le Hu Chen Research Institute for biomimetics and Soft Matter Fujian Provincial Key Lab for Soft Functional Materials ResearchDepartment of PhysicsXiamen UniversityXiamen 361005China Center of biomedical Physics Wenzhou InstituteUniversity of Chinese Academy of SciencesWenzhou 325000China

Force spectrum measurements with constant loading rates are widely used in single-molecule manipulation experiments to study the mechanical stability and force response of ***-dependent transition rates can be obtained from the transition force distribution,but it is limited to the force range with non-zero force *** constant loading rate control can be realized with magnetic tweezers,the loading rate range is limited due to the slow movement of permanent ***-linear exponential and exponential squared force loading functions are more feasible in magnetic tweezers,while there is no theoretical result available for these two kinds of non-linear force loading *** this study,we solved the unfolding process of a protein following bell's model under nonlinear exponential and exponential squared force loading functions,which offer a broader range of unfolding force distribution compared to the traditional constant loading rate ***,we derived two force loading functions,which can produce uniform unfolding force *** research contributes fundamental equations for the analysis of experimental data obtained through single-molecule manipulation under nonlinear force loading controls,paving the way for the use of nonlinear force control in magnetic tweezer experiments.

关键词： single-molecule manipulation magnetic tweezers force loading transition rates force distribution

Understanding the Activity Performance of Comets 38P/Stephan-Oterma,64P/Swift-Gehrels and C/2017 M4(ATLAS)through broadband Photometric Observations

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Research in Astronomy and Astrophysics 2024年第8期24卷 147-156页

作者： Xuan Zhang Jin-Zhong Liu le-Tian Wang Xinjiang Astronomical Observatory Chinese Academy of SciencesUrumqi 830011China

In this work,we report observations of three comets:38P/Stephan-Oterma,64P/Swift-Gehrels,and C/2017 M4(ATLAS),conducted with the Nanshan one-meter wide-field telescope in 2018 August and November,and *** extracted morphological features through image enhancement techniques and calculated the dust activity parameter,Afρ,along with dust mass loss rates and coma color indices using broadband photometric *** morphological analysis uncovered a spectrum of dust characteristics among the observed comets,ranging from a significant twisted structure in comet 38P/Stephan-Oterma’s coma to the regular coma envelope surrounding comet 64P/*** Afρvalues varied between 148.8±0.3 cm for 64P/Swift-Gehrels and1118.5±6.2 cm for C/2017 M4(ATLAS)(measured within a reference aperture radius ofρ=6″),indicating a range from moderate to high activity *** mass loss rates were estimated from 328.1 kg s^(-1)for comet 64P/Swift-Gehrels to 1395.5 kg s^(-1)for comet C/2017 M4(ATLAS).The color indices of comets 38P/Stephan-Oterma and C/2017 M4(ATLAS)closely resemble the average colors of active short-period comets and active longperiod comets,*** contrast,64P/Swift-Gehrels exhibits a significantly bluer hue than typical Jupiter family comets.

关键词： comets general-comets individual(38P/Stephan-Oterma,64P/Swift-Gehrels,C/2017 M4(ATLAS))-techniques photometric

Re-examination of statistical relationships between dietary fats and other risk factors,and cardiovascular disease,based on two crucial datasets

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Quantitative biology 2024年第1期12卷 117-127页

作者： Jiarui Ou le Zhang Xiaoli Ru College of Computer Science Sichuan UniversityChengduChina Department of Gynecology and Obstetrics Beijing Chao-Yang HospitalCapital Medical UniversityBeijingChina

Cardiovascular disease(CVD)is the major cause of death in many regions around the world,and several of its risk factors might be linked to *** improve public health and the understanding of this topic,we look at the recent Minnesota Coronary experiment(MCe)analysis that used t-test and Cox model to evaluate CVD ***,these parametric methods might suffer from three problems:small sample size,right-censored bias,and lack of long-term *** overcome the first of these challenges,we utilize a nonparametric permutation test to examine the relationship between dietary fats and serum total *** address the second problem,we use a resampling-based rank test to examine whether the serum total cholesterol level affects CVD *** the third issue,we use some extra-Framingham Heart Study(FHS)data with an A/b test to look for meta-relationship between diets,risk factors,and CVD *** show that,firstly,the link between low saturated fat diets and reduction in serum total cholesterol is ***,reducing serum total cholesterol does not robustly have an impact on CVD hazards in the diet ***,the A/b test result suggests a more complicated relationship regarding abnormal diastolic blood pressure ranges caused by diets and how these might affect the associative link between the cholesterol level and heart disease *** study not only helps us to deeply analyze the MCe data but also,in combination with the long-term FHS data,reveals possible complex relationships behind diets,risk factors,and heart disease.

关键词： A/b test bioinformatics cardiovascular disease nonparametric statistics

Inelastic Scattering of Dark Matter with Heavy Cosmic Rays

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Research in Astronomy and Astrophysics 2024年第6期24卷 68-80页

作者： Keyu Lu Yue-Lin Sming Tsai Qiang Yuan le Zhang School of Physics and Astronomy Sun Yat-sen UniversityZhuhai 519082China Key Laboratory of Dark Matter and Space Astronomy Purple Mountain ObservatoryChinese Academy of SciencesNanjing 210023China School of Astronomy and Space Science University of Science and Technology of ChinaHefei 230026China CSST Science Center for the Guangdong-Hong Kong-Macao Greater bay Area SYSUZhuhai 519082China Peng Cheng Laboratory Shenzhen 518000China

We investigate the impact of inelastic collisions between dark matter(DM)and heavy cosmic ray(CR)nuclei on CR *** approximate the fragmentation cross-sections for DM-CR collisions using collider-measured proton-nuclei scattering cross-sections,allowing us to assess how these collisions affect the spectra of CR boron and *** derive new CR spectra from DM-CR collisions by incorporating their cross-sections into the source terms and solving the diffusion equation for the complete network of reactions involved in generating secondary *** a specific example with a coupling strength of b_(χ)=0.1 and a DM mass of m_(χ)=0.1 GeV,considering a simplified scenario where DM interacts exclusively with oxygen,a notable modification in the boron-to-carbon spectrum due to the DM-CR interaction is ***,the peak within the spectrum,spanning from 0.1 to 10 GeV,experiences an enhancement of approximately 1.5 ***,in a more realistic scenario where DM particles interact with all CRs,this peak can be amplified to twice its original *** the latest data from AMS-02 and DAMPe on the boron-to-carbon ratio,we estimate a 95%upper limit for the effective inelastic cross-section of DM-proton as a function of DM *** findings reveal that at m_(χ)?2 MeV,the effective inelastic cross-section between DM and protons must be less than O(10^(-32))cm^(2).

关键词： elementary particles nuclear reactions nucleosynthesis abundances scattering astroparticle physics (cosmology:)dark matter

Metabolic basis of solute carrier transporters in treatment of type 2 diabetes mellitus

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Acta Pharmaceutica Sinica b 2024年第2期14卷 437-454页

作者： Jiamei le Yilong Chen Wei Yang Ligong Chen Jianping Ye Shanghai Key Laboratory of Molecular Imaging Zhoupu HospitalShanghai University of Medicine and Health SciencesShanghai 201318China School of Health Science and engineering University of Shanghai for Science and TechnologyShanghai 200093China Metabolic Disease Research Center Zhengzhou Central Hospital Affiliated to Zhengzhou UniversityZhengzhou 450007China School of Pharmaceutical Sciences Tsinghua UniversityBeijing 100084China Research Center for basic Medicine Academy of Medical SciencesZhengzhou UniversityZhengzhou 450052China

Solute carriers(SLCs) constitute the largest superfamily of membrane transporter *** transporters, present in various SLC families, play a vital role in energy metabolism by facilitating the transport of diverse substances, including glucose, fatty acids, amino acids, nucleotides, and *** actively participate in the regulation of glucose metabolism at various steps, such as glucose uptake(e.g., SLC2A4/GLUT4), glucose reabsorption(e.g., SLC5A2/SGLT2), thermogenesis(e.g., SLC25A7/UCP-1), and ATP production(e.g., SLC25A4/ANT1 and SLC25A5/ANT2). The activities of these transporters contribute to the pathogenesis of type 2 diabetes mellitus(T2DM). Notably, SLC5A2 has emerged as a valid drug target for T2DM due to its role in renal glucose reabsorption, leading to groundbreaking advancements in diabetes drug discovery. Alongside SLC5A2, multiple families of SLC transporters involved in the regulation of glucose homeostasis hold potential applications for T2DM therapy. SLCs also impact drug metabolism of diabetic medicines through gene polymorphisms, such as rosiglitazone(SLCO1b1/OATP1b1) and metformin(SLC22A1-3/OCT1-3 and SLC47A1, 2/MATe1, 2). by consolidating insights into the biological activities and clinical relevance of SLC transporters in T2DM, this review offers a comprehensive update on their roles in controlling glucose metabolism as potential drug targets.

关键词： Solute carriers(SLCs) energ ymetabolism ATP production Type 2 diabetes mellitus(T2DM) Glucose homeostasis Polymorphisms

Striking Stabilization effect of Spinel Cobalt Oxide Oxygen evolution electrocatalysts in Neutral pH by Dual-Sites Iron Incorporation

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energy & environmental Materials 2024年第2期7卷 156-164页

作者： Shuairu Zhu Xue Wang Jiabo le Na An Jianming Li Deyu Liu Yongbo Kuang Key Laboratory of Advanced Fuel Cells and electrolyzers Technology of Zhejiang Province Ningbo Institute of Materials Technology and Engineering Chinese Academy of Sciences Zhejiang Institute of Tianjin University Research Center of New energy Research Institute of Petroleum Exploration & Development Center of Materials Science and Optoelectronics engineering University of Chinese Academy of Sciences

Developing stable and efficient nonprecious-metal-based oxygen evolution catalysts in the neutral electrolyte is a challenging but essential goal for various electrochemical ***,cobalt-based spinels have drawn a considerable amount of attention but most of them operate in alkali ***,the frequently studied Co-Fe spinel system never exhibits appreciable stability in nonbasic conditions,not to mention attract further investigation on its key structural motif and transition states for activity ***,we report exceptional stable Co-Fe spinel oxygen evolution catalysts（～30% Fe is optimal） in a neutral electrolyte,owing to its unique metal ion arrangements in the crystal *** introduced iron content enters both the octahedral and tetrahedral sites of the spinel as Fe2+and Fe3+（with Co ions having mixed distribution as well）.Combining density functional theory calculations,we find that the introduction of Fe to Co3O4lowers the covalency of metal-oxygen bonds and can help suppress the oxidation of Co2+/3+and O2-.It implies that the Co-Fe spinel will have minor surface reconstruction and less lattice oxygen loss during the oxygen evolution reaction process in comparison with Co3O4and hence show much better *** findings suggest that there is still much chance for the spinel structures,especially using reasonable sublattices engineering via multi metal doping to develop advanced oxygen evolution catalysts.

关键词： dual-sites iron electrocatalyst stability neutral electrolyte oxygen evolution reaction spinel oxides