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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang yue-hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BeijingChina Children Epilepsy Center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina Center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular trafficking.The phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial abnormalities.Methods We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation sequencing.Detailed information obtained from these patients was analyzed along with that obtained from previously reported patients.Results With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related cases.Most patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental delay.The most common pathogenic missense variants were PACSI p.Arg203Trp and PACS2 p.Glu209Lys.In addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset epilepsy.Conclusions The clinical phenotypes of the different PACS heterozygous missense variants were similar.The pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be pathogenic.These findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

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Copper-Free Click Chemistry-Mediated Assembly of Single Quantum Dot Nanosensor for Accurately Monitoring Locus-Specific m^(6)A in Cancer Cells

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Chinese Journal of Chemistry 2024年第5期42卷 499-504页

作者： yue-Ying Li Ning-Ning Zhao Yi-Xuan Geng Qian Han Jian-Ge Qiu Bing-hua jiang Zi-yue Wang Chun-Yang Zhang Translational Medicine Center The First Affiliated Hospital of Zhengzhou UniversityThe Academy of Medical SciencesHenan Institute of Medical and Pharmaceutical Sciences BGI CollegeZhengzhou UniversityZhengzhouHenan450052 China College of Chemistry Chemical Engineering and Materials ScienceShandong Normal UniversityJinanShandong250014 China School of Chemistry and Chemical Engineering Southeast UniversityNanjingJiangsu211189 China

N6-methyladenosine(m^(6)A)plays an important role in embryogenesis,nuclear export,transcription splicing,and protein translation control.Herein,we demonstrate a copper-free click chemistry-mediated assembly of single quantum dot(QD)nanosensor for accurately monitoring locus-specific m^(6)A in cancer cells.The m^(6)A-sensitive endoribonuclease MazF can digest the unmethylated A-RNA,and the intact m^(6)A-RNA then hybridizes with DNA probes a and b to produce a sandwich hybrid,initiating the click chemistry to generate probe a–b ligation product via first tandem ligation detection reaction(LDR)cycle.Subsequently,DNA probes c and d can hybridize with the probe a–b ligation product to generate the probe c–d ligation product via second LDR cycle.Both LDR cycles can be repeated through denaturation and annealing reaction to generate abundant biotin-/fluorophore-modified probe c–d ligation products that can easily assemble on the QD surface to induce distinct fluorescence resonance energy transfer(FRET)between QD and Cy5.This assay can be homogenously performed without the involvement of copper catalyst,m^(6)A-specific antibody,radioactive labeling,ligase enzyme,enzymatic reverse transcription,and next-generation sequencing.Moreover,it can discriminate even 0.01% m^(6)A level in complex samples and accurately measure cellular m^(6)A-RNA expression,providing a promising avenue for clinical diagnostics and biomedical research.

关键词： RNA methylation Click chemistry Förster resonance energy transfer Biosensor Cancer

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Spatio-temporal Evaluation of Multi-scale Cultivated Land System Resilience in Black Soil Region from 2000 to 2019:A Case Study of Liaoning Province,Northeast China

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Chinese Geographical Science 2024年第1期34卷 168-180页

作者： WANG yue jiang Yuting ZHU Guoxu School of Management Shenyang Normal UniversityShenyang110034China Northeast Institute of Geography and Agroecology Chinese Academy of SciencesChangchun130012China

It is of great significance to systematically analyze the cultivated land system resilience(CLSR) for the black soil protection and national food security.The CLSR is impacted by planting structure adjustment and cultivated land quality decline,posing major hidden dangers to food security.It is urgent to evaluate the CLSR at multiple spatio-temporal scales.This study took Liaoning Province in the black soil region of Northeast China as an example.Based on the resilience theory,this study constructed the CLSR evaluation system from the input-feedback perspective at the provincial-scale and the city-scale,and used the rank-sum ratio comprehensive evaluation method(RSR) to analyze the key influencing factors of CLSR in Liaoning Province and its 14 cities from 2000 to 2019.The results showed that:1) the time series changes of CLSR at the provincial-scale and the city-scale in Liaoning Province were similar,both showing an increasing trend.2) The CLSR in Liaoning Province presented a spatial pattern of ‘high in the west and low in the east’ at the city-scale.3) There were seven and six main influencing factors of CLSR at the provincial-scale and the city-scale,respectively.In addition to the net income per capita of rural households,other influencing factors of CLSR were different at the provincial-scale and the city-scale.The feedback factors were dominant at the provincial-scale,and the input factors and feedback factors were dominant at the city-scale.The results could provide a reference for the utilization of black soil and draw on the experience of regional agricultural planning and adjustment.

关键词： cultivated land system resilience(CLSR) rank-sum ratio comprehensive evaluation(RSR) multi-scales influencing factors black soil region Liaoning Province,China

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Delivery room resuscitation intensity and associated neonatal outcomes of 24^(+0)-31^(+6) weeks'preterm infants in China:a retrospective cross-sectional study

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World Journal of Pediatrics 2024年第1期20卷 64-72页

作者： Si-Lu Wang Chun Chen Xin-yue Gu Zhao-Qing Yin Le Su Si-Yuan jiang Yun Cao Li-Zhong Du Jian-hua Sun jiang-Qin Liu Chuan-Zhong Yang Department of Neonatology Shanghai Key Laboratory of Maternal Fetal MedicineShanghai Institute of Maternal-Fetal Medicine and Gynecologic OncologyShanghai First Maternity and Infant HospitalSchool of MedicineTongji UniversityNo.2699Gaoke Western RoadPudong DistrictShanghai 201204China Department of Neonatology Affiliated Shenzhen Maternity and Child Healthcare HospitalSouthern Medical UniversityNo.2004Hongli RoadFutian DistrictShenzhen 518028China NHC Key Laboratory of Neonatal Diseases Fudan UniversityChildren's Hospital of Fudan UniversityShanghaiChina Department of Neonatology People's Hospital of DehongKunming Medical UniversityDehongChina Department of Neonatology Children's Hospital of Fudan UniversityShanghaiChina Department of Neonatology Children's HospitalZhejiang University School of MedicineHangzhouChina Department of Neonatology Shanghai Children's Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Background The aim of this study was to review current delivery room(DR)resuscitation intensity in Chinese tertiary neonatal intensive care units and to investigate the association between DR resuscitation intensity and short-term outcomes in preterm infants born at 24+0_31+6 weeks gestation age(GA).Methods This was a retrospective cross-sectional study.The source population was infants born at 24+0_31+6 weeks'GA who were enrolled in the Chinese Neonatal Network 2019 cohort.Eligible infants were categorized into five groups:(1)regular care;(2)oxygen supplementation and/or continuous positive airway pressure(O2/CPAP);(3)mask ventilation;(4)endotracheal intubation;and(5)cardiopulmonary resuscitation(CPR).The association between DR resuscitation and shortterm outcomes was evaluated by inverse propensity score-weighted logistic regression.Results Of 7939 infants included in this cohort,2419(30.5%)received regular care,1994(25.1%)received O,/CPAP,1436(18.1%)received mask ventilation,1769(22.3%)received endotracheal intubation,and 321(4.0%)received CPR in the DR.Advanced maternal age and maternal hypertension correlated with a higher need for resuscitation,and antenatal steroid use tended to be associated with a lower need for resuscitation(P<0.001).Severe brain impairment increased significantly with increasing amounts of resuscitation in DR after adjusting for perinatal factors.Resuscitation strategies vary widely between centers,with over 50%of preterm infants in eight centers requiring higher intensity resuscitation.Conclusions Increased intensity of DR interventions was associated with increased mortality and morbidities in very preterm infants in China.There is wide variation in resuscitative approaches across delivery centers,and ongoing quality improvement to standardize resuscitation practices is needed.

关键词： Cardiopulmonary resuscitation Delivery room Endotracheal intubation Neonatal resuscitation Preterm

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Identification of anti-gastric cancer effects and molecular mechanisms of resveratrol: From network pharmacology and bioinformatics to experimental validation

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World Journal of Gastrointestinal Oncology 2024年第2期16卷 493-513页

作者： Ying-Qian Ma Ming Zhang Zhen-hua Sun Hong-yue Tang Ying Wang jiang-Xue Liu Zhan-Xue Zhang Chao Wang Department of Oncology Hebei General HospitalShijiazhuang 050051Hebei ProvinceChina School of Graduate Studies Hebei Medical UniversityShijiazhuang 050017Hebei ProvinceChina Clinical Medical Research Center Hebei General HospitalShijiazhuang 050051Hebei ProvinceChina Department of Gastrointestinal Surgery Second Hospital of Hebei Medical UniversityShijiazhuang 050000Hebei ProvinceChina

BACKGROUND Gastric cancer(GC)is one of the most aggressive malignancies with limited therapeutic options and a poor prognosis.Resveratrol,a non-flavonoid poly-phenolic compound found in a variety of Chinese medicinal materials,has shown excellent anti-GC effect.However,its exact mechanisms of action in GC have not been clarified.AIM To identify the effects of resveratrol on GC progression and explore the related molecular mechanisms.METHODS Action targets of resveratrol and GC-related targets were screened from public databases.The overlapping targets between the two were confirmed using a Venn diagram,and a“Resveratrol-Target-GC”network was constructed using Cyto-scape software version 3.9.1.The protein-protein interaction(PPI)network was constructed using STRING database and core targets were identified by PPI network analysis.The Database for Annotation,Visualization and Integrated A total of 378 resveratrol action targets and 2154 GC disease targets were obtained from public databases,and 181 intersection targets between the two were screened by Venn diagram.The top 20 core targets were identified by PPI network analysis of the overlapping targets.GO function analysis mainly involved protein binding,identical protein binding,cytoplasm,nucleus,negative regulation of apoptotic process and response to xenobiotic stimulus.KEGG enrichment analysis suggested that the involved signaling pathways mainly included PI3K-AKT signaling pathway,MAPK signaling pathway,IL-17 signaling pathway,TNF signaling pathway,ErbB signaling pathway,etc.FBJ murine osteosarcoma viral oncogene homolog(FOS)and matrix metallopeptidase 9(MMP9)were selected by differential expression analysis,and they were closely associated with immune infiltration.Molecular docking results showed that resveratrol docked well with these two targets.Resveratrol treatment arrested the cell cycle at the S phase,induced apoptosis,and weakened viability,migration and invasion in a dose-dependent manner.Furthermore,resveratrol could exhibit anti-GC effect by regula

关键词： Resveratrol Gastric cancer Network pharmacology Bioinformatics Molecular docking

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The Limitations and Ethical Considerations of ChatGPT

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Data Intelligence 2024年第1期6卷 201-239页

作者： Shangying hua Shuangci Jin Shengyi jiang Guangdong University of Foreign Studies Guangzhou 510000China

With the advancements of artificial intelligence technology,ChatGPT,a new practice of artificial intelligence,holds immense potential across multiple fields.Its user-friendly human-machine interface,rapid response capabilities,and delivery of high-quality answers have attracted considerable attention and widespread usage.Regarded by many as a groundbreaking advancement in AI,ChatGPT represents a new milestone in the field.However,as with any technological evolution,the emergence of ChatGPT brings not only benefits,but also inevitable security risks and ethical issues.This paper provides specific information about ChatGPT,including its technology,limitations,ethical issues,governance paths and future directions.Specifically,we firstly offered a thorough exploration of the technical implementation details of GPT series models.Next,we provided an intricate analysis elucidating the reasons for limitations and scrutinized the consequential impacts,such as malicious misuse,privacy violation,and so on.Finally,we explore diverse governance paths to mitigate the impacts of ChatGPT and present future directions.This review aims to equip users with crucial knowledge,facilitating well-informed decision-making,effectively handling of potential challenges in employing ChatGPT,and staying abreast with the rapidly evolving landscape of this technology.

关键词： ChatGPT ChatGPT Technology Limitations Ethical considerations Artificial Intelligence

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Finite-time composite learning control for nonlinear teleoperation systems under networked time-varying delays

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Science China(Information Sciences) 2024年第6期67卷 279-296页

作者： Yana YANG Huixin jiang Changchun hua Junpeng LI Institute of Electrical Engineering Yanshan University

The robust finite-time synchronization control problem is investigated for master-slave networked nonlinear telerobotics systems(NNTSs) in this article. Although there have been some research achievements on finite-time control for the NNTSs, these studies are based on the strong assumptions of communication time delays or can only achieve finite-time bounded convergence even when the external forces are zero.Accordingly and in view of the importance of these issues, a novel robust composite learning adaptive control scheme rendering the finite-time master-slave synchronization is proposed in this paper. In particular, the influence of time delays on finite-time convergence of the system is analyzed by employing the multi-dimension finite-time small-gain framework. Meanwhile, in order to achieve accurate and fast estimation of uncertain parameters of the system, both the online historical and the instantaneous data of the estimation data are explored to derive the new parameter adaptive law under a more realizable interval-excitation(IE) condition.Therefore, the convergence of the position/force synchronization errors and the adaptive parameter estimation errors is obtained in finite time, and enhanced robustness of the closed-loop system will also be ensured.Finally, the superior performance of the proposed control algorithms is validated by numerical simulations and hardware experiments.

关键词： networked teleoperation systems finite-time control exact parameter estimation small-gain theorem unknown communication delays

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(Parallel) kinetic resolution of 3,3-disubstituted indolines via organocatalyzed reactions with azodicarboxylates

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Science China Chemistry 2024年第3期67卷 973-980页

作者： Qianwen jiang Dekun Zhang Mengyao Tang hua Liu Xiaoyu Yang School of Physical Science and Technology ShanghaiTech UniversityShanghai 201210China

A novel kinetic resolution(KR) method has been developed for 3,3-disubstituted indolines, whose catalytic asymmetric synthesis remains a significant challenge in organic synthesis. The key to the success of this KR protocol lies in the utilization of chiral phosphoric acid-catalyzed triazane formation reaction with azodicarboxylates, which enables the enantioselective synthesis of various substituted indolines bearing C3-quaternary stereocenters with good to high enantioselectivities(with sfactors up to 70). Moreover, an intriguing parallel kinetic resolution(PKR) has been developed by combining triazane formation and dehydrogenation reactions using different azodicarboxylates. Experimental studies have provided insight into the mechanism of this PKR reaction, demonstrating stereoselectivity in both triazane formation and dehydrogenation steps, favoring the opposite enantiomers. The large-scale synthesis and diverse derivatizations of the products, particularly the imine groupcontaining 3H-indoles, demonstrate the value of these(P)KR methods.

关键词： asymmetric organocatalysis kinetic resolution 3 3-disubstituted indolines azodicarboxylate triazanes

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Quercetin Attenuates Atherosclerosis via Modulating Apelin Signaling Pathway Based on Plasma Metabolomics

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Chinese Journal of Integrative Medicine 2023年第12期29卷 1121-1132页

作者： LIU Li-qun ZHANG Peng QI Ying-zi LI Hui jiang yue-hua YANG Chuan-hua The First Clinical Medical College Shandong University of Traditional Chinese MedicineJinan(250355)China College of Integrated Chinese and Western Medicine Binzhou Medical UniversityYantaiShandong Province(264000)China Health College Shandong University of Traditional Chinese MedicineJinan(250355)China Department of Pharmacy Ruijin HospitalSchool of MedicineShanghai Jiaotong UniversityShanghai(200050)China Central Laboratory Affiliated Hospital of Shandong University of Traditional Chinese MedicineJinan(250014)China Department of Cardiovascular Affiliated Hospital of Shandong University of Traditional Chinese MedicineJinan(250014)China

Objective:To interpret the pharmacology of quercetin in treatment of atherosclerosis(AS).Methods:Fourteen apolipoprotein E-deficient(ApoE^(-/-))mice were divided into 2 groups by a random number table:an AS model(ApoE^(-/-))group and a quercetin treatment group(7 in each).Seven age-matched C57 mice were used as controls(n=7).Quercetin[20 mg/(kg·d)]was administered to the quercetin group intragastrically for 8 weeks for pharmacodynamic evaluation.Besides morphological observation,the distribution of CD11b,F4/80,sirtuin 1(Sirt1)and P21 was assayed by immunohistochemistry and immunofluorescence to evaluate macrophage infiltration and tissue senescence.Ultra-performance liquid chromatography/tandem mass spectrometry(UPLC-MSC/MS)was performed to study the pharmacology of quercetin against AS.Then,simultaneous administration of an apelin receptor antagonist(ML221)with quercetin was conducted to verify the possible targets of quercetin.Key proteins in apelin signaling pathway,such as angiotensin domain type 1 receptor-associated proteins(APJ),AMP-activated protein kinase(AMPK),peroxisome proliferator-activated receptor-γcoactivator-1α(PGC-1α),tissue plasminogen activator(TPA),uncoupling protein 1(UCP1)and angiotensinⅡreceptor 1(AT1R),were assayed by Western blot.Results:Quercetin administration decreased lipid deposition in arterial lumen and improved the morphology of ApoE^(-/-)aortas in vivo.Quercetin decreased the densities of CD11b,F4/80 and P21 in the aorta and increased the level of serum apelin and the densities of APJ and Sirt1 in the aorta in ApoE^(-/-)mice(all P<0.05).Plasma metabolite profiling identified 118 differential metabolites and showed that quercetin affected mainly glycerophospholipids and fatty acyls.Bioinformatics analysis suggested that the apelin signaling pathway was one of the main pathways.Quercetin treatment increased the protein expressions of APJ,AMPK,PGC-1α,TPA and UCP1,while decreased the AT1R level(all P<0.05).After the apelin pathway was blocked by ML221,the effect of quercetin was aba

关键词： quercetin atherosclerosis plasma metabonomics apelin signaling pathway

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Tuberous sclerosis complex combined with primary lymphedema:A case report

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World Journal of Clinical Cases 2024年第15期12卷 2642-2648页

作者： Xing-Peng Li Xiao-Li Sun Xin Liu Zhe Wen Li-hua jiang Yan Fu Yun-Long yue Ren-Gui Wang Department of Radiology Beijing Shijitan Hospital Affiliated to Capital Medical UniversityBeijing 100038China Department of Lymph Surgery Beijing Shijitan Hospital Affiliated to Capital Medical UniversityBeijing 100038China Department of Nuclear Medicine Beijing Shijitan Hospital Affiliated to Capital Medical UniversityBeijing 100038China Department of MRI Beijing Shijitan Hospital Affiliated to Capital Medical UniversityBeijing 100038China

BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.

关键词： Tuberous sclerosis complex Lymphedema Sirolimus Multimodal imaging examination Case report

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