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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Current Medical Science 2024年第2期44卷 419-425页

作者： jia-xun li ling-rui MENG Bao-ke HOU Xiao-lu HAO Da-jiang WANG ling-hui QU Zhao-hui li Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of *** novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

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Predictive modeling for postoperative delirium in elderly patients with abdominal malignancies using synthetic minority oversampling technique

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World Journal of Gastrointestinal Oncology 2024年第4期16卷 1227-1235页

作者： Wen-Jing Hu Gang Bai Yan Wang Dong-Mei Hong Jin-Hua jiang jia-xun li Yin Hua Xin-Yu Wang Ying Chen Intensive Care Unit Shanghai Fourth People’s Hospital Affiliated to Tongji University School of MedicineShanghai 200434China Department of Anesthesia and Perioperative Medicine Shanghai Fourth People’s Hospital Affiliated to Tongji University School of MedicineShanghai 200434China Department of Nursing Shanghai Fourth People’s Hospital Affiliated to Tongji University School of MedicineShanghai 200434China Department of Thyroid Breast and Vascular SurgeryShanghai Fourth People’s Hospital Affiliated to Tongji University School of MedicineShanghai 200434China

BACKGROUND Postoperative delirium,particularly prevalent in elderly patients after abdominal cancer surgery,presents significant challenges in clinical *** To develop a synthetic minority oversampling technique(SMOTE)-based model for predicting postoperative delirium in elderly abdominal cancer *** In this retrospective cohort study,we analyzed data from 611 elderly patients who underwent abdominal malignant tumor surgery at our hospital between September 2020 and October *** incidence of postoperative delirium was recorded for 7 d *** were divided into delirium and non-delirium groups based on the occurrence of postoperative delirium or not.A multivariate logistic regression model was used to identify risk factors and develop a predictive model for postoperative *** SMOTE technique was applied to enhance the model by oversampling the delirium *** model’s predictive accuracy was then *** In our study involving 611 elderly patients with abdominal malignant tumors,multivariate logistic regression analysis identified significant risk factors for postoperative *** included the Charlson comorbidity index,American Society of Anesthesiologists classification,history of cerebrovascular disease,surgical duration,perioperative blood transfusion,and postoperative pain *** incidence rate of postoperative delirium in our study was 22.91%.The original predictive model(P1)exhibited an area under the receiver operating characteristic curve of *** comparison,the SMOTE-based logistic early warning model(P2),which utilized the SMOTE oversampling algorithm,showed a slightly lower but comparable area under the curve of 0.856,suggesting no significant difference in performance between the two predictive *** This study confirms that the SMOTE-enhanced predictive model for postoperative delirium in elderly abdominal tumor patients shows performance equivalent to that of tradi

关键词： Elderly patients Abdominal cancer Postoperative delirium Synthetic minority oversampling technique Predictive modeling Surgical outcomes

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Increase of chiral sensing ability in host-guest chemistry by magnetic anisotropy

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Science China Chemistry 2024年第8期67卷 2775-2782页

作者： jia-liang Chen Bin li Feng Yang Tiesheng Shi xun-Cheng Su State Key Laboratory of Elemento-organic Chemistry Tianjin Key Laboratory of Biosensing and Molecular RecognitionCollege of ChemistryNankai UniversityTianjin 300071China College of Chemistry Chemical Engineering and Materials ScienceZaozhuang UniversityZaozhuang 277160China

Enantiomeric molecules generally play distinct functions in chemistry,biology,and *** physical and chemical properties of chiral analytes lay difficulty in discrimination and quantification of the *** report herein an efficient approach of increasing the chiral sensing ability ofβ-cyclodextrin(β-CD),a widely used host molecule,in the hostguest chemistry by magnetic anisotropy.A rigid and chiral lanthanide binding tag was attached to theβ-CD to amplify the changes of nuclear magnetic resonance(NMR)signals in the host-guest recognition *** installation of the paramagnetic lanthanide ion inβ-CD greatly enhances the enantiomeric discrimination up to 30-fold in comparison with the diamagneticβ-CD *** addition,the magnitude of the paramagnetic effects is tunable according to the diverse range of paramagnetic strength of the lanthanide *** reported method significantly increases the chiral sensing ability ofβ-CD,which can be applied to other host *** transferred paramagnetic effects,pseudocontact shifts(PCSs)and paramagnetic relaxation enhancements(PREs),from the host to the guest molecules,are valuable structural restraints to determine the absolute stereochemistry of the chiral *** strategy does not need modification of the analytes and is complementary to the reported analytical methods that rely on the functionalization of the chiral analytes.

关键词： chiral recognition nuclear magnetic resonance host-guest chemistry magnetic anisotropy lanthanide ions

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Cooperative guidance law with maneuverability awareness:A decentralized solution

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Chinese Journal of Aeronautics 2024年第7期37卷 450-457页

作者： Shuyang XU xun SONG Chaoyong li College of Electrical Engineering Zhejiang UniversityHangzhou 310027China Beijing Institute of Electronic System Engineering Beijing 100074China

In this paper,we propose a cooperative guidance law aimed to achieve coordinated impact angles with limited observation on target *** primary challenge lies in establishing an appropriate communication graph among all missiles and devising an algorithm to estimate target acceleration information during *** address this,we propose a specific communication topology and employ a numerical integration-based estimation ***,a distributed algorithm is introduced to facilitate consensus on target acceleration *** upon these foundations,we design an optimal-control-based distributed guidance law for each *** of the proposed guidance law is validated through numerical simulations.

关键词： Cooperative guidance Target maneuver estimation Distributed estimation Consensus Optimal control

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A novel evasion guidance for hypersonic morphing vehicle via intelligent maneuver strategy

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Chinese Journal of Aeronautics 2024年第5期37卷 441-461页

作者： xun li Xiaogang WANG Hongyu ZHOU Yu li Department of Aerodynamics Harbin Institute of TechnologyHarbin 150001China Beijing Aerospace Technology Institute Beijing 100074China

This paper presents a novel evasion guidance law for hypersonic morphing vehicles,focusing on determining the optimized wing's unfolded angle to promote maneuverability based on an intelligent ***,the pursuit-evasion problem is modeled as a Markov decision *** the agent's action consists of maneuver overload and the unfolded angle of wings,which is different from the conventional evasion guidance designed for fixed-shape *** reward function is formulated to ensure that the miss distances satisfy the prescribed bounds while minimizing energy ***,to maximize the expected cumulative reward,a residual learning method is proposed based on proximal policy optimization,which integrates the optimal evasion for linear cases as the baseline and trains to optimize the performance for nonlinear engagement with multiple ***,offline training guarantees improvement of the constructed evasion guidance law over conventional ***,the guidance law for online implementation includes only analytical *** maps from the confrontation state to the expected angle of attack and the unfolded angle while retaining high computational *** show that the proposed evasion guidance law can utilize the change of unfolded angle to extend the maximum overload *** it surpasses conventional maneuver strategies by ensuring better evasion efficacy and higher energy efficiency.

关键词： Hypersonic vehicles Variable-sweep wings Evasion guidance Reinforcement learning Pursuit-evasion problem

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Perspective on new cell-free DNA technologies for early cancer detection

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Cancer Biology & Medicine 2024年第2期21卷 139-143页

作者： Jie li xun Lan Department of Basic Medical Sciences School of MedicineTsinghua UniversityBeijing 100084China MOE Key Laboratory of Bioinformatics Tsinghua UniversityBeijing 100084China Tsinghua-Peking Joint Center for life Sciences Tsinghua UniversityBeijing 100084China

High cancer heterogeneity and aggressiveness are major factors contributing to the poor prognosis of patients with advanced cancer~(1-5).Early detection of cancer can significantly improve the prognosis of patients with early-stage cancer after standard *** traditional cancer detection technologies,such as endoscopy for gastrointestinal cancer,mammography for breast cancer。

关键词： prognosis cancer patients

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Effects of Number of Bleed Holes on Shock-Wave/Boundary-Layer Interactions in a Transonic Compressor Stator

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Journal of Thermal Science 2024年第2期33卷 611-624页

作者： li Bai ZHOU xun LUO Lei DU Wei School of Energy Science and Engineering Harbin Institute of TechnologyHarbin150001China

An extensive numerical investigation is conducted to characterize the flow separation control in a transonic compressor cascade with a porous *** bleed holes are arranged on the suction surface in a single row,two staggered rows and three staggered *** each bleed scheme,five bleed pressure ratios are examined at an inlet Mach number of *** results indicate that the aerodynamic performance of the cascade is significantly improved by the porous *** the single-row scheme,the maximum reduction in total pressure losses is 57%.For the two-staggered-row and three-staggered-row schemes,there is an optimal bleed pressure ratio of 1.0,and the maximum reductions in total pressure loss are 68% and 75%,*** low loss in the cascade is due to the well-controlled boundary *** new local supersonic region created by the bleed hole is the key reason for the improved boundary *** vortex induced by side bleeding provides another mechanism for delaying flow *** the bleed holes could create multiple local supersonic regions,which reduce the range of the adverse pressure gradient that the boundary layer needs to *** is the reason why cascades with more bleed holes perform better.

关键词： transonic compressor stator shock wave/boundary layer interaction porous bleed number of bleed holes

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In-situ polymerized PEO-based solid electrolytes contribute better li metal batteries:Challenges,strategies,and perspectives

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Journal of Energy Chemistry 2024年第5期92卷 548-571页

作者： Zhihui jia Yong liu Haoming li Yi Xiong Yingjie Miao Zhongxiu liu Fengzhang Ren School of Materials Science and Engineering Henan Key Laboratory of Non-Ferrous Materials Science&Processing TechnologyHenan University of Science and TechnologyLuoyang 471023HenanChina Provincial and Ministerial Co-construction of Collaborative Innovation Center for Non-ferrous Metal new Materials and Advanced Processing Technology Henan University of Science and TechnologyLuoyang 471023HenanChina

Polyethylene oxide(PEO)-based solid polymer electrolytes(SPEs)with good electrochemical stability and excellent li salt solubility are considered as one of the most promising SPEs for solid-state lithium metal batteries(SSLMBs).However,PEO-based SPEs suffer from low ionic conductivity at room temperature and high interfacial resistance with the electrodes due to poor interfacial contact,seriously hindering their practical *** an emerging technology,in-situ polymerization process has been widely used in PEO-based SPEs because it can effectively increase li-ion transport at the interface and improve the interfacial contact between the electrolyte and ***,we review recent advances in design and fabrication of in-situ polymerized PEO-based SPEs to realize enhanced performance in *** merits and current challenges of various SPEs,as well as their stabilizing strategies are ***,various in-situ polymerization methods(such as free radical polymerization,cationic polymerization,anionic polymerization)for the preparation of PEO-based SPEs are *** addition,the application of in-situ polymerization technology in PEO-based SPEs for adjustment of the functional units and addition of different functional filler materials was systematically discussed to explore the design concepts,methods and working ***,the challenges and future prospects of in-situ polymerized PEO-based SPEs for SSLMBs are also proposed.

关键词： In-situ polymerization Polyethylene oxide Solid polymer electrolytes lithium metal anodes

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Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection

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Asian Journal of Andrology 2023年第5期25卷 564-571页

作者： Jing Ma Shun-Hua Long Hai-Bing Yu Ye-Zhou Xiang Xiang-Rong Tang jia-xun li Wei-Wei liu Wei Han Rong Jin Guo-Ning Huang Ting-Ting lin Center for Reproductive Medicine Women and Children's Hospital of Chongqing Medical UniversityChongqing 400010China Chongqing Health Center for Women and Children Chongqing 400010China Chongqing Key Laboratory of Human Embryo Engineering Chongqing 400010China

As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber *** in cilia-and flagella-associated protein 43(CFAP43)are one of the main causative factors of MMAF established to *** identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations,we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing *** systematic analysis,seven mutations in CFAP43,including five novel mutations and two previously reported mutations,were identified from four families and related to MMAF in an autosomal recessive *** staining,immunofluorescence,and electronic microscopy further clarified the semen characteristics a nd abnormal sperm morphologies,including disorganized axonemal and peri-axonemal structures,of the CFAP43-deficient *** female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection,and one of them successfully gave birth to a healthy *** study significantly expands the mutant spectrum of CFAP43,and together with the available information regarding male infertility and MMAF,provides new information for the genetic diagnosis and counseling of MMAF in the future.

关键词： asthenoteratozoospermia CFAP43 intracytoplasmic sperm injection MMAF

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Anion competition for li^(+)solvated coordination environments in poly(1,3 dioxolane)electrolyte to enable high-voltage lithium metal solid-state batteries

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Journal of Energy Chemistry 2024年第9期96卷 633-641页

作者： Qiujun Wang Yanqiang Ma Xiaomeng jia Di Zhang Zhaojin li Huilan Sun Qujiang Sun Bo Wang li-Zhen Fan Hebei Key Laboratory of Flexible Functional Materials School of Materials Science and EngineeringHebei University of Science and TechnologyShijiazhuang 050000HebeiChina Beijing Advanced Innovation Center for Materials Genome Engineering Institute of Advanced Materials and TechnologyUniversity of Science and Technology BeijingBeijing 100083China

Gel-based polymer electrolytes are limited by the polarity of the residual solvent,which restricts the coupling-breaking behaviour during li^(+)conduction,resulting in the li^(+)transport kinetics being greatly ***,we designed anion competitive gel polymer electrolyte(ACPE)by introducing lithium difluoro(oxalato)borate(liDFOB)anion into the 1,3-dioxolane(DOL)in situ polymerisation *** enhances the ionic dipole interaction between li^(+)and the solvent molecules and synergizes with li^(+)across the solvation site of the polymer ethylene oxide(EO)unit,combination that greatly improves the li^(+)transport *** a result,ACPE exhibits 1.12 mS cm^(−1)ionic conductivity and 0.75 li^(+)transfer number at room ***,this intra-polymer solvation sheath allows preferential desolvation of DFOB−,which contributes to the formation of kinetically stable anion-derived interphase and effectively mitigates side *** results demonstrate that the assembled li||NCM622 solid-state battery exhibits lifespan of over 300 cycles with average Coulombic efficiency of 98.8%and capacity retention of 80.3%.This study introduces a novel approach for ion migration and interface design,paving the way for high-safety and high-energy-density batteries.

关键词： li-metal batteries Poly(1,3-dioxolane) In situ polymerization Solid-state polymer electrolytes Anion competition

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