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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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treatment patterns and survival outcomes in patients with nonmetastatic early-onset pancreatic cancer

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World Journal of Gastroenterology 2024年第12期30卷 1739-1750页

作者： le-tian Zhang Ying Zhang Bi-Yang Cao Chen-Chen Wu Jing Wang Graduate School Chinese PLA Medical SchoolBeijing 100853China Department of Radiation Oncology First Medical Center of Chinese PLA General HospitalBeijing 100853China Department of Internal Medicine Hospital of University of Science and Technology BeijingBeijing 100083China Department of Medical Oncology National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China

BACKGROUND the incidence of patients with early-onset pancreatic cancer(EOPC;age≤50 years at diagnosis)is on the rise,placing a heavy burden on individuals,families,and *** role of combination therapy including surgery,radiotherapy,and chemotherapy in non-metastatic EOPC is not *** to investigate the treatment patterns and survival outcomes in patients with non-metastatic *** A total of 277 patients with non-metastatic EOPC who were treated at our institution between 2017 and 2021 were investigated *** survival(OS),disease-free survival,and progression-free survival were estimated using the Kaplan-Meier *** and multivariate analyses with the Cox proportional hazards model were used to identify prognostic *** With a median follow-up time of 34.6 months,the 1-year,2-year,and 3-year OS rates for the entire cohort were 84.3%,51.5%,and 27.6%,*** median OS of patients with localized disease who received surgery alone and adjuvant therapy(At)were 21.2 months and 28.8 months,respectively(P=0.007).the median OS of patients with locally advanced disease who received radiotherapy-based combination therapy(RCt),surgery after neoadjuvant therapy(NAt),and chemotherapy were 28.5 months,25.6 months,and 14.0 months,respectively(P=0.002).the median OS after regional recurrence were 16.0 months,13.4 months,and 8.9 months in the RCt,chemotherapy,and supportive therapy groups,respectively(P=0.035).Multivariate analysis demonstrated that carbohydrate antigen 19-9 level,pathological grade,t-stage,N-stage,and resection were independent prognostic factors for non-metastatic *** At improves postoperative survival in localized *** after NAt and RCt are the preferred therapeutic options for patients with locally advanced EOPC.

关键词： Pancreatic cancer Early-onset Non-metastatic Multimodal treatment Radiotherapy Overall survival

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Application of radioactive iodine-125 microparticles in hepatocellular carcinoma with portal vein embolus

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World Journal of Gastrointestinal Surgery 2024年第7期16卷 2023-2030页

作者： Peng Meng Ji-Peng Ma Xiao-Fei Huang Kang-le Zhang the Fourth Department of Oncology Yantai Hospital of Traditional Chinese MedicineYantai 264001Shandong ProvinceChina Department of Medical Services Yantai Hospital of Traditional Chinese MedicineYantai 264001Shandong ProvinceChina Department of Hepatobiliary Surgery The First Affiliated Hospital of Sun Yatsen UniversityGuangzhou 510062Guangdong ProvinceChina the third Department of Oncology Yantai Hospital of Traditional Chinese MedicineYantai 264001Shandong ProvinceChina

BACKGROUND Radioactive iodine-125(125I)microparticle therapy is a new type of internal radiation therapy that has shown unique advantages in the treatment of malignant tumors,especially hepatocellular *** with hepatocellular carcinoma frequently experience portal vein embolism,which exacerbates the difficulty and complexity of treatment.125I particles,used in local radiotherapy,can directly act on tumor tissue and reduce damage to surrounding healthy *** retrospective analysis,this study discussed the efficacy and safety of radioactive 125I particles in portal vein embolization patients with hepatocellular carcinoma in order to provide more powerful evidence supporting clinical *** to investigate the effect of transcatheter arterial chemoembolization combined with portal vein 125I particle implantation in the treatment of primary liver cancer patients with portal vein tumor thrombus and its influence on liver *** the clinical data of 96 patients with primary liver cancer combined with portal vein tumor thrombus admitted to our hospital between January 2020 and December 2023 were retrospectively ***-two patients received treatment with transcatheter arterial chemoembolization and implantation of 125I particles in the portal vein(combination group),while 44 patients received treatment with transcatheter arterial chemoembolization alone(control group).the therapeutic effects on tumor lesions,primary liver cancer,and portal vein tumor embolisms were compared between the two *** in relevant laboratory indexes before and after treatment were *** t test was used to compare the measurement data between the two groups,and the χ^(2) test was used to compare the counting data between *** the tumor lesion response rate in the combination group(59.62%vs 38.64%)and the response rate of patients with primary liver cancer complicated with portal vein tumor thrombus(80.77%vs 59.09%)were signi

关键词： Radioactive iodine-125 Hepatocellular carcinoma transcatheter arterial chemoembolization Portal vein embolus Retrospective study

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Preparation of microparticles and nanoparticles using membrane-assisted dispersion,micromixing,and evaporation processes

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Particuology 2024年第1期84卷 30-44页

作者： Goran t.Vladisavljevic Chemical Engineering Department Loughborough UniversityLoughboroughLeicestershire LE113TUUnited Kingdom

Synthetic microporous membranes are increasingly used for energy-efficient and controlled production of micro-and nanoparticles and micro-and nanoemulsions with tuneable morphology and physico-chemical properties through various micromixing,emulsification,and evaporation *** emul-sification processes,the membrane pores are used for dispersed phase injection and size-controlled generation of droplets and droplet-templated *** micromixing processes,membrane is utilised as a micromixer for mixing two miscible liquids,usually solvent and antisolvent-rich solutions,which leads to the creation of supersaturation and subsequent nanoprecipitation or *** mem-brane evaporation processes,membrane is used to prevent phase dispersion while allowing efficient molecular diffusion of solvent and/or antisolvent vapour through gas-filled *** dispersion processes can be operated continuously by decoupling shear stress on the membrane surface from cross flow using tube insets,flow pulsations,swirling flow,membrane oscillations or membrane *** generation and solidification can be performed continuously in a single pass by connecting membrane module with a downstream *** dispersion processes can be used for pro-duction of nanoparticles such as nanovesicles(liposomes,micelles,ethosomes,and niosomes),nanogels,polymeric,lipid and metallic nanoparticles,and *** main advantages of membrane-assisted particle generation are in low energy consumption,controlled geometry and hydrodynamic conditions at the microscale level,flexible throughput due to modular and scalable design of membrane devices,and a wide choice of available microporous membranes with various wall porosities,wetta-bilities,pore sizes,and pore morphologies to suit different applications.

关键词： Nanoparticles Microparticles Nanoemulsions Microemulsions Microporous membrane Crystallisation Flash nanoprecipitation Emulsification Zero liquid discharge

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to improve robustness of mechanical properties of semi-solid cast A356 alloy using taguchi design method

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China Foundry 2024年第2期21卷 175-184页

作者： Yi-wu Xu Hong-yi Zhan Wei tong Jin-ping Li le-peng Zhang De-jiang Li Xiao-qin Zeng School of Materials Science and Engineering Shanghai Jiao Tong UniversityShanghai 200240China China Science Lab General Motors Global Research&DevelopmentShanghai 201206China General Motors(China)Investment Co. Ltd.Shanghai 201206China China International Intellectech Corporation(CIIC) Beijing 100004China

Mechanical properties of semi-solid casting are dependent on multiple processing parameters,and improper processing parameters will not only reduce mean data but also increase *** present study investigated the impact of parameters in slurry preparation and heat treatment on the yield strength and ductility of t6 heat-treated A356 Al-Si alloy using rapid slurry forming(RSF)semi-solid *** focus was primarily on the robustness of mechanical properties based on taguchi design *** analyzing signal-to-noise ratio and minimum value calculated from-3S,the optimum slurry preparation parameters and heat treatment parameters were determined to be no quench,enthalpy exchange material(EEM)temperature of 140℃,EEM-to-melt ratio of 6mass%,stirring time of 18 s,solution heat treated at 520℃ for 2 h,and ageing heat treated at 190℃ for 6 *** a small batch validation,the-3S yield strength and-3S elongation reach 256.1 MPa and 5.03% respectively,showing a satisfactory *** hardness and microstructure of heat-treated samples with the best and worst properties were characterized to gain insight into the underlying mechanisms affecting the mean value and variations of mechanical properties.

关键词： semi-solid casting taguchi design method signal-to-noise ratio mechanical property microstructure

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Optimal Design of Hybrid Microgrid in Isolated Communities of Ecuador

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Journal of Modern Power Systems and Clean Energy 2024年第2期12卷 488-499页

作者： Luis A.Pesantes Ruben Hidalgo-león Johnny Rengifo Miguel torres Jorge Aragundi JoséCordova-Garcia Luis F.Ugarte Facultad de Ingeniería en Electricidad y Computación of Escuela Superior Politécnica del Litoral(ESPOL)University GuayaquilEcuador Department of Electrical Engineering at Universidad técnica Federico Santa María SantiagoChile IEEE

In rural territories, the communities use energy sources based on fossil fuels to supply themselves with electricity, which may address two main problems: greenhouse gas emissions and high fuel prices. Hence, there is an opportunity to include renewable resources in the energy mix. this paper develops an optimization model to determine the optimal sizing, the total annual investment cost in renewable generation, and other operating costs of the components of a hybrid microgrid. By running a k-means clustering algorithm on a meteorological dataset of the community under study, the hourly representative values become input parameters in the proposed optimization model. the method for the optimal design of hybrid microgrid is analyzed in six operating scenarios considering:(1) 24-hour continuous power supply;(2) load shedding percentage;(3) diesel power generator(genset) curtailment;(4) the worst meteorological conditions;(5) the use of renewable energy sources including battery energy storage systems(BESSs);and(6) the use of genset. A mathematical programming language(AMPL) tool is used to find solutions of the proposed optimization model. Results show that the total costs of microgrid in the scenarios that cover 100% of the load demand(without considering the scenario with 100% renewables) increase by over 16% compared with the scenario with genset operation limitation. For the designs with power supply restrictions, the total cost of microgrid in the scenario with load shedding is reduced by over 27% compared with that without load shedding.

关键词： Battery energy storage system(BESS) isolated community microgrid renewable energy optimization

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Composite structure Al_(2)O_(3)/Al_(2)O_(3)-YAG:Ce/YAG ceramics with high color spatial uniformity for white laser lighting

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Journal of Advanced Ceramics 2024年第2期13卷 189-197页

作者： Pengfei Sang le Zhang Jian Kang Mingzhou Li Shiwei Chen Peng Yang Bingheng Sun Yang Li Wieslaw Strek Hao Chen Jiangsu Key Laboratory of Advanced Laser Materials and Devices School of Physics and Electronics EngineeringJiangsu Normal UniversityXuzhou 221116China Jiangsu Xiyi Advanced Materials Research Institute of Industrial technology Xuzhou 221400China Xuzhou EAGleD technology Co. Ltd.Xuzhou 221116China Xuzhou Kangna Advanced Materials technology Co. Ltd.Xuzhou 221116China Xuzhou Fuchang Electronic technology Co. Ltd.Xuzhou 221116China Shanghai Institute of Optics Fine Mechanics Chinese Academy of SciencesShanghai 201800China School of Material Science and Engineering Shanghai Institute of TechnologyShanghai 201418China State Key Laboratory of Crystal Materials Shandong UniversityJinan 250100China Institute of Low temperature and Structure Research Polish Academy of SciencesWroclaw 50-422Poland

Composite ceramic phosphor(CCP)is a candidate light-conversion material to obtain the high-quality laser lighting *** based on the transmissive configuration model could not simultaneously meet the requirements of angular color uniformity and high thermal *** this study,a novel composite structure ceramic was designed,including Al_(2)O_(3)-YAG:Ce/YAG layered ceramic with a size of 1 mm×1 mm for lighting,and Al_(2)O_(3) ceramic(φ=16.0 mm)was used as the wrapping material due to its outstanding thermal *** prepared ceramics exhibited excellent thermal performance and no yellow ring *** this design,we achieved the match of the intensity distribution of the blue and yellow lights,resulting in a high angular color uniformity of 0.9 with a view angle of±80°.All ceramics showed no luminous saturation phenomenon,even the laser power density was increased up to 47.51 W/mm^(2).A high-brightness white-light source with a luminous flux of 618 lm,a luminous efficiency of 126 lm/W,a CCt of 6615 K,and a CRI of 69.9 was obtained in the transmissive *** particular,the surface temperature of the ceramic was as low as 74.1℃ under a high laser radiation(47.51 W/mm^(2)).these results indicate that Al_(2)O_(3)/Al_(2)O_(3)-YAG:Ce/YAG composite structure ceramic is a promising luminescent material in the high-power laser lighting applications.

关键词： Al_(2)O_(3)/Al_(2)O_(3)-YAG:Ce/YAG angular color uniformity high thermal stability high-power laser lighting

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Decoding the inconsistency of six cropland maps in China

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the Crop Journal 2024年第1期12卷 281-294页

作者： Yifeng Cui Ronggao Liu Zhichao Li Chao Zhang Xiao-Peng Song Jilin Yang le Yu Mengxi Chen Jinwei Dong Institute of Geographic Sciences and Natural Resources Research Chinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China Department of Geographical Sciences University of MarylandCollege ParkMD 20740USA College of Grassland Science and technology China Agricultural UniversityBeijing 100193China Ministry of Education Ecological Field Station for East Asian Migratory Birds Department of Earth System ScienceInstitute for Global Change StudiesTsinghua UniversityBeijing 100084China Ministry of Education Ecological Field Station for East Asian Migratory Birds Beijing 100084China tsinghua University(Department of Earth System Science)-Xi’an Institute of Surveying and Mapping Joint Research Center for Next-Generation Smart Mapping Beijing 100084China Institute of Remote Sensing and Geographic Information System Peking UniversityBeijing 100871China Department of Forest and Conservation Sciences University of British ColumbiaVancouverBCV6T 1Z4Canada

Accurate cropland information is critical for agricultural planning and production,especially in foodstressed countries like *** widely used medium-to-high-resolution satellite-based cropland maps have been developed from various remotely sensed data sources over the past few decades,considerable discrepancies exist among these products both in total area and in spatial distribution of croplands,impeding further applications of these *** factors influencing their inconsistency are also *** this study,we evaluated the consistency and accuracy of six cropland maps widely used in China in circa 2020,including three state-of-the-art 10-m products(i.e.,Google Dynamic World,ESRI Land Cover,and ESA WorldCover)and three 30-m ones(i.e.,GLC_FCS30,GlobeLand 30,and CLCD).We also investigated the effects of landscape fragmentation,climate,and agricultural *** using a ground-truth sample revealed that the 10-m-resolution WorldCover provided the highest accuracy(92.3%).these maps collectively overestimated Chinese cropland area by up to 56%.Up to 37%of the land showed spatial inconsistency among the maps,concentrated mainly in mountainous regions and attributed to the varying accuracy of cropland maps,cropland fragmentation and management practices such as *** work shed light on the promotion of future cropland mapping efforts,especially in highly inconsistent regions.

关键词： Consistency and accuracy 10-and 30 m Cropland mapping Agricultural management China

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Inonotus obliquus(Chaga)against HFD/StZ-induced glucolipid metabolism disorders and abnormal renal functions by regulating NOS-cGMP-PDE5 signaling pathway

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Chinese Journal of Natural Medicines 2024年第7期22卷 619-631页

作者： FENG Yating LIU Jing GONG le HAN Zhaodi ZHANG Yan LI Rongshan LIAO Hui School of Pharmacy Shanxi Medical UniversityTaiyuan 030001China Drug Clinical trial Institution The Fifth Hospital of Shanxi Medical University(Shanxi Provincial People’s Hospital)Taiyuan 030012China Department of Nephrology The Fifth Hospital of Shanxi Medical University(Shanxi Provincial People’s Hospital)Taiyuan 030012China

Our prior investigations have established that Inonotus obliquus(Chaga)possesses hypoglycemic *** hyperglycemia is known to precipitate renal function *** functionality of the kidneys is intricately linked to the levels of cyclic guanosine-3',5'-monophosphate(cGMP),which are influenced by the activities of nitric oxide synthase(NOS)and phosphodiesterase(PDE).Enhanced cGMP levels can be achieved either through the upregulation of NOS activity or the downregulation of PDE *** objective of the current study is to elucidate the effects of Chaga on disorders of glucolipid metabolism and renal abnormalities in rats with type 2 diabetes mellitus(t2DM),while concurrently examining the NOS-cGMP-PDE5 signaling pathway.A model of t2DM was developed in rats using a high-fat diet(HFD)combined with streptozotocin(StZ)administration,followed by treatment with Chaga extracts at doses of 50 and 100 mg·kg^(−1)for eight *** findings revealed that Chaga not only mitigated metabolic dysfunctions,evidenced by improvements in fasting blood glucose,total cholesterol,triglycerides,and insulin resistance,but also ameliorated renal function markers,including serum creatinine,urine creatinine(UCr),blood urea nitrogen,24-h urinary protein,and estimated creatinine ***,enhancements in glomerular volume,GBM thickness,podocyte foot process width(FPW),and the mRNA and protein expressions of podocyte markers,such as nephrin and wilms tumor-1,were *** was found to elevate cGMP levels in both serum and kidney tissues by increasing mRNA and protein expressions of renal endothelial NOS and neural NOS,while simultaneously reducing the expressions of renal inducible NOS and *** summary,Chaga counteracts HFD/StZ-induced glucolipid metabolism and renal function disturbances by modulating the NOS-cGMP-PDE5 signaling *** research supports the potential application of Chaga in the clinical prevention and treatment of t2DM and

关键词： Inonotus obliquus Diabetic nephropathy Glucolipid metabolism disorders Renal functions NOS-cGMP-PDE5 signaling

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CRISPR/CasRx-mediated resistance to Soybean mosaic virus in soybean

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the Crop Journal 2024年第4期12卷 1093-1101页

作者： le Gao Lijun Xie Yanmin Xiao Xinge Cheng Ruosi Pu Ziheng Zhang Yu Liu Shaopei Gao Zilong Zhang Haoran Qu Haijian Zhi Kai Li MARA Key Laboratory of Biology and Genetics Improvement of Soybean Zhongshan Biological Breeding Laboratory(ZSBBL)National Innovation Platform for Soybean Breeding and Industry-Education IntegrationState Key Laboratory of Crop Genetics&Germplasm Enhancement and UtilizationNanjing Agricultural UniversityNanjing 210095JiangsuChina Department of Horticulture Beijing Vocational College of AgricultureBeijing 102442China College of Agronomy&Biotechnology China Agricultural UniversityBeijing 100193China College of Bioscience and Biotechnology Shenyang Agricultural UniversityShenyang 110866LiaoningChina

Soybean mosaic virus(SMV),an RNA virus,is the most common and destructive pathogenic virus in soybean *** newly developed CRISPR/Cas immune system has provided a novel strategy for improving plant resistance to viruses;hence,this study aimed to engineer SMV resistance in soybean using this ***,multiple sgRNAs were designed to target positive-and/or negative-sense strands of the SMV HC-Pro ***,the corresponding CRISPR/CasRx vectors were constructed and transformed into *** inoculation with SMV,39.02%,35.77%,and 18.70%of t_(1)plants were confirmed to be highly resistant(HR),resistant(R),and mildly resistant(MR)to SMV,respectively,whereas only 6.50%were identified as susceptible(S).Additionally,qRt-PCR and DAS-ELISA showed that,both at 15 and 30 d post-inoculation(dpi),SMV accumulation significantly decreased or was even undetectable in HR and R plants,followed by MR and S ***,the expression level of the CasRx gene varied in almost all t_(1)plants with different resistance level,both at 15 and 30 ***,when SMV resistance was evaluated in the t_(2)generation,the results were similar to those recorded for the t_(1)*** findings provide new insights into the application of the CRISPR/CasRx system for soybean improvement and offer a promising alternative strategy for breeding for resistance to biotic stress that will contribute to the development of SMV-immune soybean germplasm to accelerate progress towards greater soybean crop productivity.

关键词： Soybean RNA virus Soybean mosaic virus Resistance CRISPR/CasRx

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