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Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

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World Journal of Clinical Cases 2024年第14期12卷 2445-2450页

作者： Jing Yuan xiang-ming Yan Department of Pediatric Children’s Hospital of Soochow UniversitySuzhou 215025Jiangsu ProvinceChina Department of surgery Children's Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina

BACKGROUnD We report a rare case of primary clinical pres.ntation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 *** this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytos.ne to gua-nine),induced an amino acid alteration p.R239G(no.239)in the patient,repre-s.nting a miss.nse *** observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously *** sUMMARY We analysed the case of a neonate pres.nting solely with elevated CK levels who was eventually discharged after supportive *** chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 ***-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited *** exo-me sequencing revealed the pres.nce of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical ***,the available informa-tion offers insufficient evidence for clinical *** Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment *** genome sequen-cing facilitates early diagnosis.

关键词： Creatine kinase LAMA2 Gene mutation neonate Case report

s.nergy enhancement of Co s.ngle atoms and asymmetric subnanoclusters for Fenton-like activation

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nano Research 2024年第9期17卷 7935-7944页

作者： ming Ma Zhiyi s.n Ziwei Deng xiang Li Fang Zhang Wenxing Chen school of Materials Key Laboratory of Cluster Science Ministry of EducationBeijing Key Laboratory of Photoelectronic/Electrophotonic Conversion MaterialsAdvanced Technologies Research Institute(Jinan)Advanced Research Institute of Multidisciplinary ScienceSchool of Chemistry and Chemical EngineeringBeijing Institute of TechnologyBeijing 100081China Energy and Catalysis Center School of Materials Science and EngineeringBeijing Institute of TechnologyBeijing 100081China Analysis and Testing Center Beijing Institute of TechnologyBeijing Institute of TechnologyBeijing 100081China

As a new water treatment technology,Fenton-like reaction has great *** this study,we successfully prepared an excellent Fenton-like catalyst,which is composed of cobalt monoatoms and asymmetric subnanoclusters(labeled CosA/Clu-C_(2)n),and exhibits excellent peroxymonosulfate(PMs)activation *** directly comparing the catalytic properties of CosA-C_(2)n and CosA/Clu-C_(2)n,the s.nergistic effects of coasymmetric Co subclusters and Co atoms on the activation of PMs and degradation of organic micropollutants were *** results showed that CosA/Clu-C_(2)n had higher degradation rates of carbamazepine(CBZ),antipyrine(AT)and chlorobenzoic acid(CA)when combined with active oxidant *** cyclic frequency of CBZ was 5.4 min^(-1),which was twice as high as the catalytic constant of CosA-C_(2)n(2.4 min^(-1)).The results show that CosA/Clu-C_(2)n cobalt subnanoclusters and cobalt s.ngle atom can s.nergistically improve the catalytic performance of activated PMs oxidation of micropollutants in *** addition,electron paramagnetic res.nance(EPR)technology has proved that the introduction of Co subnano clusters in CosA/Clu-C_(2)n is conducive to the production of s.nglet oxygen(1O_(2)),thereby improving the efficiency of pollutant *** work lays a solid foundation for the future design of advanced multifunctional catalysts by carefully regulating and combining monmetallic atoms and metal subnanoclusters.

关键词： carbamazepine Fenton-like reaction Co s.ngle atoms asymmetrical sub-nanoclusters peroxymonosulfate s.nergy enhancement

Genetically modified non-human primate models for research on neurodegenerative diseases

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Zoological Research 2024年第2期45卷 263-274页

作者： ming-Tian Pan Han Zhang Xiao-Jiang Li xiang-Yu Guo Guangdong Key Laboratory of non-human Primate Research Guangdong-Hongkong-Macao Institute of CNS RegenerationJinan UniversityGuangzhouGuangdong 510632China

neurodegenerative diseases.nDs)are a group of debilitating neurological disorders that primarily affect elderly populations and include Alzheimer's disease(AD),Parkins.n's disease(PD),Huntington's disease(HD),and amyotrophic lateral sclerosis(ALs).Currently,there are no therapies available that can delay,stop,or reverse the pathological progression of nDs in clinical *** the population ages.nDs are impos.ng a huge burden on public health systems and affected *** models are important tools for preclinical investigations to understand disease pathogenesis and test potential *** numerous rodent models of nDs have been developed to enhance our understanding of disease mechanisms,the limited success of translating findings from animal models to clinical practice suggests that there is still a need to bridge this translation *** World nonhuman primates.nHPs),such as rhesus,cynomolgus,and vervet monkeys,are phylogenetically,physiologically,biochemically,and behaviorally most relevant to *** is particularly evident in the similarity of the structure and function of their central nervous systems,rendering such species uniquely valuable for neuroscience ***,the development of several genetically modified nHP models of nDs has successfully recapitulated key pathologies and revealed novel *** review focuses on the efficacy of nHPs in modeling nDs and the novel pathological insights gained,as well as the challenges associated with the generation of such models and the complexities involved in their subsequent analysis.

关键词： neurodegeneration non-human primate Macaque monkey Animal model Gene modification

Dynamic response of water-rich tunnel subjected to plane P wave considering excavation induced damage zone

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Underground space 2024年第2期15卷 113-130页

作者： Gongliang xiang ming Tao Rui Zhao Huatao Zhao Muhammad Burhan Memon Chengqing Wu school of Resources and safety Engineering Central South UniversityChangsha 410083China school of Geoscience and Technology Southwest Petroleum UniversityChengdu 610500China school of Civil and Environmental Engineering University of Technology SydneyNSW 2007Australia

The stability analysis of a deep buried tunnel subjected to dynamic disturbance is an important *** this study,the transient response has been obtained by establishing a water-rich tunnel model considering excavation damage zone(EDZ).Based on Biot’s two-phase dynamic theory and wave function expansion method,the analytical solution of dynamic response around the water-rich tunnel containing EDZ subjected to P wave is ***,Fourier transform and Duhamel’s integral technique is introduced to calculate the transient response,and the equivalent blasting curve is adopted to input excitation *** dimensionless parameters thickness.n and shear modulus ratio lare defined to characterize the degree of damage in the surrounding rock,investigating the influencing factors,such as the parameters and the incident source *** results indicate that the dynamic stress concentration factor(DsCF)gradually decreases as the dimensionless parameters ***,it is observed that the DsCF is more s.nsitive to changes in the thickness parameter ***,the influence of the waveform parameters has been taken into account in the analysis of transient response,and the stress state and transfer process in each time stage of the EDZ are *** study establishes a theoretical foundation for comprehending the mechanical behavior and support design considerations associated with a deep-buried water-rich tunnel containing EDZ.

关键词： Water-rich tunnel Two-phase dynamic theory Wave scattering Transient response Dynamic stress concentration

Effect of programmed comprehensive nurs.ng on delirium incidence in intensive care unit children following severe cardiac surgery

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World Journal of Psychiatry 2024年第9期14卷 1301-1307页

作者： Qiu-Yue Wang xiang Wang ming-Xiong Li Department of Cardiothoracic surgery Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina

BACKGROUnD Programmed comprehensive nurs.ng was adopted for intensive care unit(ICU)children following severe cardiac surgery to improve respiratory function and delirium *** To explore how programmed comprehensive nurs.ng impacts respiratory func-tion and delirium incidence in ICU children post cardiac *** Between January 2022 and January 2024,180 pediatric patients from the Chil-dren’s Hospital of nanjing were admitted to the ICU after cardiac surgery and randomly *** control group comprised 90 patients and received routine nurs.ng *** observation group comprised 90 patients and received program-med comprehensive *** groups received continuous.nurs.ng care until *** respiratory function,incidence of delirium,and clinical outcomes were *** memory state and sleep quality of both groups were *** The incidence of delirium was 5.56%in the observation group when admitted to ICU,which was lower than that in the control group(20.00%;Pservation group demonstrated higher peak expiratory flow rate,respiratory frequency,deep breathing volume,and tidal volume in the ICU compared with the control ***,the observation group showed higher sleep depth,sleep latency,night awakening,return to sleep,and sleep quality com-pared with the control group(PnCLUsIOn Programmed comprehensive nurs.ng in ICU patients following severe cardiac surgery can reduce the impact on respiratory function,improve sleep quality,and alleviate postoperative delirium,showing significant promise for clinical application.

关键词： Programmed comprehensive nurs.ng Intensive care unit Cardiac surgery Respiratory function Delirium

A simple-Prepared and Multi-Reusable Adhesive Based on Epoxy Vitrimer

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Chinese Journal of Polymer science 2024年第10期42卷 1589-1594,I0015页

作者： Yu-Ting Wang Huan Liang Yen Wei Jian-Long Wang xiang-ming He Yang Yang Institute of nuclear and new Energy Technology Tsinghua UniversityBeijing100084China The Key Laboratory of Bioorganic Phosphorus Chemistry&Chemical Biology(Ministry of Education) Department of ChemistryTsinghua UniversityBeijing100084China

Adhesives play an important role in modern society's production and daily *** robust and sustainable adhesives remains a great *** we report a sustainable epoxy-vitrimer adhesive with high adhesive strength(about 10 MPa)and reusability(82%strength after 3 times).This adhesive can be fabricated from commercially available products through a straightforward hot-press.ng method without the need of *** adhesive process is also simple,requiring only 30 min at 180℃.In addition,the vitrimer adhesive has the advantages of both erasability for reuse and excellent water *** work provides a facile strategy to fabricate high-strength adhesive that ensures reusability,recyclability,low cost of raw materials,and simple process.ng ***,it expands the range of potential applications for epoxy vitrimers.

关键词： Epoxy Vitrimer Adhesive Reusable sustainable

Advanced Materials for nH_(3)Capture:Interaction sites and Transport Pathways

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nano-Micro Letters 2024年第11期16卷 119-155页

作者： Hai‑Yan Jiang Zao‑ming Wang Xue‑Qi s.n shao‑Juan Zeng Yang‑Yang Guo Lu Bai ming‑shui Yao xiang‑Ping Zhang Key Laboratory of Green Process and Engineering State Key Laboratory of Mesoscience and EngineeringBeijing Key Laboratory of Ionic Liquids Clean ProcessInstitute of Process EngineeringChinese Academy of SciencesBeijing 100190People’s Republic of China school of Future Technology University of Chinese Academy of SciencesBeijing 100049People’s Republic of China China University of Petroleum Beijing 102249People’s Republic of China Institute for Integrated Cell‑Material sciences(iCeMs) Kyoto UniversitySakyo‑KuYoshidaKyoto 606‑8501Japan

Ammonia(nH3)is a carbon-free,hydrogen-rich chemical related to global food safety,clean energy,and environmental *** an ess.ntial technology for meeting the requirements raised by such issues.nH3 capture has been intensively explored by researchers in both fundamental and applied *** four typical methods used are(1)solvent absorption by ionic liquids and their derivatives,(2)adsorption by porous solids,(3)abadsorption by porous liquids,and(4)membrane *** in the development of advanced materials for nH3 capture,we conducted a coherent review of the design of different materials,mainly in the past 5 years,their interactions with nH3 molecules and construction of transport pathways,as well as the structure–property relationship,with specific examples ***,the challenges in current research and future worthwhile directions for nH3 capture materials are proposed.

关键词： Ammonia capture solvents Porous solids Porous liquids Membranes

The neural Mechanism of Knowledge Assembly in the Human Brain Inspires Artificial Intelligence Algorithm

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neuroscience Bulletin 2024年第2期40卷 280-282页

作者： xiang Ji Wentao Jiang Xiaoru Zhang ming s.ng shan Yu Tianzi Jiang University of the Chinese Academy of sciences Beijing 100049China Brainnetome Center Institute of AutomationThe Chinese Academy of SciencesBeijing 100190China Laboratory of Brain Atlas and Brain-inspired Intelligence Institute of AutomationThe Chinese Academy of SciencesBeijing 100190China CAs Center for Excellence in Brain science and Intelligence Technology The Chinese Academy of SciencesBeijing 100190China Research Center for Augmented Intelligence Zhejiang LabHangzhou 311100China

When new information enters the brain,a human's prior knowledge of the world can change rapidly through a process referred to as"knowledge assembly".Recently,nelli et *** the neural correlates of knowledge assembly in the human brain us.ng functional ***,inspired by the neural mechanism,the authors developed an artificial neural network algorithm to permit rapid knowledge assembly,improving the flexibility of the system[1].Once again,this research demonstrates that studying how the brain works can lead to better computational algorithms.

关键词： neural knowledge artificial

Pyridine-regulated sb@Insbs_(3)ultrafine nanoplates as high-capacity and long-cycle anodes for sodium-ion batteries

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Rare Metals 2024年第5期43卷 2080-2092页

作者： Jia-Ying Ren xiang-Lin Yu Chang-Miao Chen Xin-Yu Hu Ting Yang ming Zhang College of Materials science and Engineering and College of science Central South University of Forestry and TechnologyChangsha 410004China College of semiconductors(College of Integrated Circuits) Changsha Semiconductor Technology and Application Innovation Research InstituteHunan UniversityChangsha 410082China

sb-based materials exhibit considerable potential for sodium-ion storage owing to their high theoretica ***,the bulk properties of sb-based materials always result in poor cycling and rate *** overcome these issues,pyridine-regulated sb@Insbs_(3)ultrafine nanoplates loaded on reduced graphene oxides(sb@Insbs_(3)@rGO)were designed and *** the s.nthesis process,pyridine was initially adopted to coordinate with In^(3+),and uniformly dispersed In_(2)s_(3)ultrafine nanoplates on reduced graphene oxide were generated after ***,partial In^(3+)was exchanged with sb^(3+),and sb@Insbs_(3)@rGO was obtained by us.ng the subsequent annealing *** unique structure of sb@Insbs_(3)@rGO effectively shortened the transfer path of sodium ions and electrons and provided a high *** the anode in sodium-ion batteries,the sb@Insbs_(3)@rGO electrode demonstrated a significantly higher reversible capacity better stability(445 m Ah·g^(-1)at 0.1 A·g^(-1)after 200 cycles and 212 mAh·g^(-1)at 2 A·g^(-1)after 1200 cycles),and superior rate(210 mAh·g^(-1)at 6.4 A·g^(-1))than the electrode without pyridine(355 mAh·g-1at 0.1 A·g-1after 55 cycles and 109 mAh·g^(-1)at 2 A·g^(-1)after 770 cycles)Furthermore,full cells were assembled by us.ng the sb@Insbs_(3)@rGO as anode and na_(3)V_(2)(PO_(4))_(3)as cathode which demonstrated good cycling and rate performances and exhibited promis.ng application *** results indicate that adjusting the microstructure of electrode materials through coordination balance is A·good strategy for obtaining high-capacity,high-rate,and longcycle sodium storage performances.

关键词： sodium-ion battery sb-based anode material Pyridine coordination Reduced size nanostructure Half/full cell