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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 *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** 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 *** 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 *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** 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 *** The clinical phenotypes of the different PACS heterozygous missense variants were *** 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 *** 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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Improvement of the nutritional support management system for patients in intensive care units

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World Journal of Psychiatry 2024年第1期14卷 44-52页

作者： Yuan-Yuan Zhang Chun-Yi Wang Dong-xian Guo Hai-Nu Gao xian-Shan Jin Yan-Li Wu Lu-han Chen Zhi-xian Feng Department of Critical Care Medicine Shulan(Hangzhou)HospitalZhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina Department of Information Shulan(Hangzhou)HospitalZhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina Department of Pharmacy Shulan(Hangzhou)HospitalZhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina Department of Nutrition Shulan(Hangzhou)HospitalZhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina Administrative Office Shulan(Hangzhou)HospitalZhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina

BACKGROUND Nutritional support for patients hospitalized in the intensive care unit(ICU)is an important part of clinical treatment and care,but there are significant implementation *** To introduce a modified nutritional support management system for ICU patients based on closed-loop information management and psychological *** The division of functions,personnel training,system construction,development of an intelligent decision-making software system,quality control,and improvement of the whole process were carried out to systematically manage nutritional support for ICU *** Following the implementation of the whole process management system,the scores of ICU medical staff’s knowledge,attitudes/beliefs,and practices regarding nutritional support were comprehensively *** proportion of hospital bed-days of total enteral nutrition(EN)in ICU patients increased from 5.58%to 11.46%,and the proportion of EN plus parenteral nutrition increased from 42.71%to 47.07%.The rate of EN initiation within 48 h of ICU admission increased from 37.50%to 48.28%,and the EN compliance rate within 72 h elevated from 20.59%to 31.72%.After the implementation of the project,the Self-rating Anxiety Scale score decreased from 61.07±9.91 points to 52.03±9.02 points,the Self-rating Depression Scale score reduced from 62.47±10.50 points to 56.34±9.83 points,and the ICU stay decreased from 5.76±2.77 d to 5.10±2.12 *** The nutritional support management system based on closed-loop information management and psychological counseling achieved remarkable results in clinical applications in ICU patients.

关键词： Closed-loop information Psychological counseling Intensive care unit patients Nutritional support Management system

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Thermal stability improvement and microstructure optimization of high cobalt content Nd-Fe-B magnets via terbium grain boundary diffusion

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Journal of Rare Earths 2024年第8期42卷 1531-1538,I0004页

作者： Jiyuan Xu Ruiyang Meng Jing Liu Jiateng Zhang Rui han Yikun fang Shengzhi Dong Wei Li Division of Functional Materials Research Central Iron and Steel Research InstituteBeijing100081China

The substitution of Fe by Co in the 2:14:1 phase is an effective method to increase the Curie temperature and enhance the thermal stability of the Nd-Fe-B ***,the accumulation of Co ele ment at the grain boundaries(GBs) changes the GBs from nonmagnetic to ferromagnetic and causes the thinlayer GBs to become rare,In this paper,the method of diffusing Tb element was chosen to improve the microstructure and temperature stability of high-Co *** original sintered Nd_(28.5)Dy_(3)-CO_(x)e_(bal)M_(0.6)B_(i)(x=0,6 wt%,12 wt%;M = Cu,Al,Zr) magnets with different Co contents were diffused with Tb by grain boundary diffusion(GBD).After GBD,high-Co magnets exhibit more continuously distributed thin-layer GBs,and their thermal stability is significantly *** high-Co magnets(x=6 wt%),the absolute value of the temperature coefficient of coercivity decreases from 0.603%/K to0.508%/K in the temperature range of 293-413 K,that of remanence decreases from 0.099%/K to 0.091%/K,and the coercivity increases from 18.44 to 25.04 *** electron microscopy(TEM)characterization reveals that there are both the 1:2 phase and the amorphous phase in the high-Co magnet before and after GBD,EDS elemental analysis shows that Tb element is more likely to preferentially replace the rare earth elements in the 2:14:1 main phase than in the 1:2 phase and the amorphous *** concentration of Tb at the edge of the main phase is much higher than that in the 1:2phase and amorphous phase,which is beneficial to the improvement of the *** preferential replacement of Tb elements at the edge of the 2:14:1 phase and thin-layer GBs with a more continuous distribution are synergistically responsible for improving the thermal stability of high-Co *** study indicates that GBD is an effective method to improve the microstructure and thermal stability of high-Co magnets.

关键词： Nd-Fe-B magnets Coercivity Grain boundary diffusion Thermal stability Micro structure Rare earths

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A system-integrated approach for the design of tourist areas at the local level under changing conditions:A case study in the Altay Mountains

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Regional Sustainability 2024年第2期5卷 89-102页

作者： Alexandr Nikolaevich DUNETS Evgeniya Mikhailovna TABAKAEVA han fang Department of Scientific and Innovative Development Altai State UniversityBarnaul656049Russia Department of Recreational Geography ServiceTourism and HospitalityInstitute of GeographyAltai State UniversityBarnaul656049Russia State Key Laboratory of Desert and Oasis Ecology Key Laboratory of Ecological Safety and Sustainable Development in Arid LandsXinjiang Institute of Ecology and GeographyChinese Academy of SciencesUrumqi830011China

The existing approaches for the design of tourist areas often lead to limited flexibility in project *** realize a more flexible approach,in this study,we formulated a model for planning and designing tourist areas at the local ***,specific tools for analyzing tourist areas and ensuring sustainable development under changing conditions were *** study was conducted in two tourist regions,Biryuzovaya Katun tourist complex and Belokurikha destination(including Belokurikha City with Belokurikha 2 Gornaya tourist complex and surrounding areas),in the Altay *** employed the recreation opportunity spectrum and proposed a system-integrated programming approach for the design of tourist areas at the destination and site *** key of this approach was the collection and analysis of current spatial data,including the spatial distribution of attractions and visitor *** constructed heat maps using video recording and unmanned aerial vehicle(UAV)observation ***,we analyzed the video stream using an image-analyzing framework You Only Look Once(YOLO)v5 *** heat map of visitor flows based on video recording data in the Andreevskaya Sloboda museum of Belokurikha 2 Gornaya tourist complex allowed us to highlight the most attractive sites in this area and classify them into one of three types:points of functional concentration,points of transitional concentration,and points of *** heat maps in Biryuzovaya Katun tourist complex,created using UAV observation data,allowed us to determine the spatiotemporal patterns of visitor flows and tourists’preferences throughout the day within four time intervals:09:00-12:00,13:00-14:00,14:00-15:00,and 16:00-18:00(LST).The maximum visitor flow density occurred from 16:00 to 18:00 in the beach area of the artificial lake.A comparison between the visitor-concentrated sites and the current facilities provided insights into the demand for attractions and facilities and

关键词： Tourism planning Tourist areas Unmanned aerial vehicle(UAV) Visitor flows Heat map Altay Mountains

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Interaction between catechol-O-methyltransferase Val/Met polymorphism and cognitive reserve for negative symptoms in schizophrenia

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World Journal of Psychiatry 2024年第5期14卷 695-703页

作者： Wen-Peng Hou xiang-Qin Qin Wei-Wei Hou Yun-Yi han Qi-Jing Bo fang Dong Fu-Chun Zhou xian-Bin Li Chuan-Yue Wang Beijing Key Laboratory of Mental Disorders National Clinical Research Center for Mental Disorders&National Center for Mental DisordersBeijing Anding HospitalCapital Medical UniversityBeijing 100088China Advanced Innovation Center for Human Brain Protection Capital Medical UniversityBeijing 100069China

BACKGROUND Cognitive reserve(CR)and the catechol-O-methyltransferase(COMT)Val/Met polymorphism are reportedly linked to negative symptoms in ***,the regulatory effect of the COMT genotype on the relationship between CR and negative symptoms is still *** To investigate whether the relationship between CR and negative symptoms could be regulated by the COMT Val/Met *** In a cross-sectional study,54 clinically stable patients with schizophrenia underwent assessments for the COMT genotype,CR,and negative *** was estimated using scores in the information and similarities subtests of a short form of the Chinese version of the Wechsler Adult Intelligence *** COMT Met-carriers exhibited fewer negative symptoms than Val *** the total sample,significant negative correlations were found between negative symptoms and information,*** between information,similarities and negative symptoms were observed in Val homozygotes only,with information and similarities showing interaction effects with the COMT genotype in relation to negative symptoms(information,β=-0.282,95%CI:-0.552 to-0.011,P=0.042;similarities,β=-0.250,95%CI:-0.495 to-0.004,P=0.046).CONCLUSION This study provides initial evidence that the association between negative symptoms and CR is under the regulation of the COMT genotype in schizophrenia.

关键词： Catechol-O-methyltransferase Val/Met polymorphism Cognitive reserve Crystallized intelligence Negative symptoms Schizophrenia

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Feasibility Study on Recovering Human-Occupied Vehicle with An Offshore Crane

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China Ocean Engineering 2024年第4期38卷 648-662页

作者： han Ming-yue XIE Peng xian Hao-yi ZHONG Xin-xin CHEN Sheng-lin SUN Tie-rui SUN Feng-lei School of Ocean Engineering and Technology Sun Yat-Sen UniversityZhuhai 519082China Key Laboratory of Comprehensive Observation of Polar Environment(Sun Yat-sen University) Ministry of EducationZhuhai 519082China Guangzhou Marine Engineering Corporation Guangzhou 510250China

Launching and recovering human-occupied vehicles(HOVs)has always been a challenging *** current recovery process requires staff to manually complete the tethering task,which is inefficient and endangers the lives of *** paper suggests moving the recovery position from the surface to underwater at approximately half the wavelength of the water depth(30−50 m underwater),where the HOV experiences less environmental *** ROV equipped with a ultra-short baseline beacon(USBL)and a manipulator was used to complete the tethering ***,a shackle customized to the shape of the manipulator’s gripper is fitted to the end of the cable to simplify the tethering *** investigate the dynamic response of recovering the HOV using this suggested method,a comprehensive numerical model is developed in this *** effects of wind,surface waves,ocean currents,and nonlinear interaction between the installation vessel and the HOV are quantitatively *** results show that the proposed recovery method can reduce the motion amplitude of the HOV and that the wave has the greatest influence on the dynamic response of the HOV during the recovery *** model provides better insight into the proposed HOV recovery method and confirms the effectiveness of the heave compensation *** proposed approach aims to enhance safety and operational efficiency by reducing direct human involvement in the recovery process and mitigating potential *** finding holds particular significance,especially in environmentally sensitive areas,where reducing the impact on the surrounding ecosystem is crucial.

关键词： human-occupied vehicle recovery dynamic response active heave compensation

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Synthesis of atomically dispersed cationic nickel-confined mesoporous ZSM-48(ANMZ-48)directed by metal complexes in amphiphilic molecules

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Science China Chemistry 2024年第1期67卷 343-350页

作者： Yu Chen Quanzheng Deng Yiru Mao Yuxi fang Zhihua Cao Honggen Peng Shunai Che Lu han School of Chemical Science and Engineering Tongji UniversityShanghai 200092China School of Chemistry and Chemical Engineering Nanchang UniversityNanchang 330031China School of Chemistry and Chemical Engineering Shanghai Jiao Tong UniversityShanghai 200240China School of Resources and Environment Nanchang UniversityNanchang 330031China State Key Laboratory of Metal Matrix Composites Shanghai Key Laboratory for Molecular Engineering of Chiral DrugsShanghai Jiao Tong UniversityShanghai 200240China

The synthesis of mesoporous zeolite-anchored atomically dispersed metal catalysts(ADCs)is a considerable challenge in chemistry and materials *** we report the synthesis of atomically dispersed cationic nickel-confined mesoporous ZSM-48(ANMZ-48)by in situ hydrothermal reaction employing a designed tri-functional metal complex template,by which the triquaternary ammonium groups in the hydrophilic region direct the formation of ZSM-48 zeolite;the aromatic groups in the hydrophobic tail generate the mesopores through π-π stacking;and the complexes formed by nickel ions coordinated with terpyridyl groups generate atomically dispersed Ni2+confined in zeolite frameworks due to the strong sintering resistance generated by the strong coordination *** ANMZ-48 is consisting of stacking of sheet-like ZSM-48 domains connected by multiply crystal twinning sharing the common(011)plane,generating abundant of imbedded mesopores with the uniform thickness of~2.4 nm and with the width of 10-50 *** excellent catalytic activity and stability of ANMZ-48 were also reflected in the dry reforming of methane(DRM)reaction.

关键词： atomically dispersed catalyst mesoporous zeolite ZSM-48 in situ hydrothermal synthesis the dry reforming of methane reaction

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Free radicals trigger the closure of open pores in lignin-derived hard carbons toward improved sodium-storage capacity

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Journal of Energy Chemistry 2024年第7期94卷 551-559页

作者： Wen-Jun Ji Zong-Lin Yi Ming-Xin Song Xiao-Qian Guo Yi-Lin Wang Yi-Xuan Mao fang-Yuan Su Jing-Peng Chen xian-xian Wei Li-Jing Xie Cheng-Meng Chen CAS Key Laboratory of Carbon Materials Institute of Coal ChemistryChinese Academy of SciencesTaiyuan 030001ShanxiChina University of Chinese Academy of Sciences Beijing 100049China Center of Materials Science and Optoelectronics Engineering University of Chinese Academy of SciencesBeijing 100049China School of Environment and Safety Taiyuan University of Science and TechnologyTaiyuan 030001ShanxiChina

The chemical activation of various precursors is effective for creating additional closed pores in hard carbons for sodium ***,the formation mechanism of closed pores under the influence of pore-forming agents is not well ***,an effective chemical activation followed by a high-temperature self-healing strategy is employed to generate interconnected closed pores in lignin-derived hard carbon(HCs).By systematic experimental design combined with electron paramagnetic res-onance spectroscopy,it can be found that the content of free radicals in the carbon matrix influences the closure of open pores at high *** high activation temperature(>700 C)leads to a low free radical concentration,making it difficult to achieve self-healing of open pores at high *** activation at 700°C,a balance between pore making and self-healing is achieved in the final hard carbon.A large number of free radicals triggers rapid growth and aggregation of carbon microcrys-tals,blocking pre-formed open micropores and creating additional interconnected closed pores in as-obtained hard *** a result,the optimized carbon anode(LK-700-1300)delivers a high reversible capacity of 330.8 mA h g^(-1) at 0.03 A g^(-1),which is an increase of 86 mA h g^(-1) compared to the pristine lignin-derived carbon anode(L-700-1300),and exhibits a good rate performance(202.1 mA h g^(-1) at 1 A g^(-1)).This work provides a universal and effective guidance for tuning closed pores of hard carbons from otherprecursors.

关键词： Hard carbon Chemical activation Free radical Self-healing Closed pores Sodium ion batteries

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A Study on the Assessment and Integration of Multi-Source Evapotranspiration Products over the Tibetan Plateau

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Advances in Atmospheric Sciences 2024年第3期41卷 435-448页

作者： Ming CHENG Lei ZHONG Yaoming MA han MA Yaoxin ChanG Peizhen LI Meilin CHENG xian WANG Nan GE School of Earth and Space Sciences University of Science and Technology of ChinaHefei 230026China CAS Center for Excellence in Comparative Planetology Hefei 230026China Jiangsu Collaborative Innovation Center for Climate Change Nanjing 210023China Frontiers Science Center for Planetary Exploration and Emerging Technologies University of Science and Technology of ChinaHefei 230026China Land-Atmosphere Interaction and its Climatic Effects Group State Key Laboratory of Tibetan Plateau Earth SystemResources and Environment(TPESRE)Institute of Tibetan Plateau ResearchChinese Academy of SciencesBeijing 100101China College of Earth and Planetary Sciences University of Chinese Academy of SciencesBeijing 100049China College of Atmospheric Science Lanzhou UniversityLanzhou 730000China National Observation and Research Station for Qomolongma Special Atmospheric Processes and Environmental Changes Dingri 858200China Kathmandu Center of Research and Education Chinese Academy of SciencesBeijing 100101China China-Pakistan Joint Research Center on Earth Sciences Chinese Academy of SciencesIslamabad 45320Pakistan

Evapotranspiration(ET)is a crucial variable in the terrestrial water,carbon,and energy *** present,a large number of multi source ET products *** to sparse observations,however,great challenges exist in the evaluation and integration of ET products in remote and complex areas such as the Tibetan Plateau(TP).In this paper,the applicability of the multiple collocation(MC)method over the TP is evaluated for the first time,and the uncertainty of multisource ET products(based on reanalysis,remote sensing,and land surface models)is further analyzed,which provides a theoretical basis for ET data *** results show that 1)ET uncertainties quantified via the MC method are lower in RS-based ET products(5.95 vs.7.06 mm month^(-1))than in LSM ET products(10.22 vs.17.97 mm month^(-1))and reanalysis ET estimates(7.27 vs.12.26 mm month-1).2)A multisource evapotranspiration(MET)dataset is generated at a monthly temporal scale with a spatial resolution of 0.25°across the TP during *** has better performance than any individual product.3)Based on the fusion product,the total ET amount over the TP and its patterns of spatiotemporal variability are clearly *** annual total ET over the entire TP is approximately 380.60 ***,an increasing trend of 1.59±0.85 mm yr^(-1)over the TP is shown during *** study provides a basis for future studies on water and energy cycles and water resource management over the TP and surrounding regions.

关键词： evapotranspiration data fusion multiple collocation the Tibetan Plateau

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Identification of crucial roles of transcription factor IhfA on high production of free fatty acids in Escherichia coli

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Synthetic and Systems Biotechnology 2024年第1期9卷 144-151页

作者： Lixia fang Ziyi han Xueru Feng Xueyan Hao Mengxiao Liu Hao Song Yingxiu Cao Frontiers Science Center for Synthetic Biology and Key Laboratory of Systems Bioengineering(Ministry of Education) School of Chemical Engineering and TechnologyTianjin UniversityTianjin300072China Frontiers Research Institute for Synthetic Biology Tianjin UniversityChina

Transcription factor engineering has unique advantages in improving the performance of microbial cell factories due to the global regulation of gene *** analyses and reverse engineering enable learning and subsequent incorporation of novel design strategies for further ***,we identify the role of the global regulator IhfA for overproduction of free fatty acids(FFAs)using CRISPRi-facilitated reverse engineering and cellular physiological *** the differentially expressed genes in the ihfAL􀀀strain,a total of 14 beneficial targets that enhance FFAs production by above 20% are identified,which involve membrane function,oxidative stress,and *** membrane-related genes,the engineered strains obtain lower cell surface hydrophobicity and increased average length of membrane lipid *** oxidative stress-related genes,the engineered strains present decreased reactive oxygen species(ROS)*** gene modulations enhance cellular robustness and save cellular resources,contributing to FFAs *** study provides novel targets and strategies for engineering microbial cell factories with improved FFAs bioproduction.

关键词： Free fatty acids CRISPRi ihfA Cell membrane ROS

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