检索结果-南通市图书馆

Biallelic variants in RBM42 cause a multisystem disorder with neurological,facial,cardiac,and musculoskeletal involvement

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Protein & Cell 2024年第1期15卷 52-68页

作者： Yiyao Chen Bingxin Yang Xiaoyu Merlin Zhang Songchang Chen Minhui Wang Liya Hu Nina Pan Shuyuan Li weihui shi Zhenhua Yang Li Wang Yajing Tan Jian Wang Yanlin Wang Qinghe Xing Zhonghua Ma Jinsong Li He-Feng Huang Jinglan Zhang Chenming Xu Institutes of Biomedical Sciences Fudan UniversityShanghai 200032China bstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peace Matermity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of Cell Biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Rice Biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of MedicineHoustonTX 77030USA Children's hospital of Fudan University Shanghai 201102China School of Life Science and Technology Shanghai Tech UniversityShanghai 201210China School of Life Science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 *** patient is a 2-year-old female with severe central nervous system(CNs)abnormalities,hypotonia,hearing loss,congenital heart defects,and dysmorphic facial *** whole-exome sequencing(WEs)reveals that the patient has two compound heterozygous variants,c.304C>T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein *** p.A438T variant is in the RRM domain which impairs RBM42 pro-tein stability in ***,p.A438T disrupts the interaction of RBM42 with hnRNP K,which is the causa-tive gene for Au-Kline syndrome with overlapping disease characteristics seen in the index *** human R102*or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout△FgRbp1 in Fusarium while it was rescued by the wild-type(WT)human RBM42.A mouse model carying Rbm42 compound heterozygous variants,c.280C>T(p.Q94*)and c.1306_1308delinsACA(p.A436T),demonstrated gross fetal develop-mental defects and most of the double mutant animals died by ***-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing(As).Overall,we present clinical,genetic,and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splicing

智能AI平台随访用于辅助生殖技术护理管理效果分析

在线全文

学校读者我要写书评

暂无评论

中国药业 2024年第S1期33卷 99-101页

作者：叶芹王玲徐静施伟慧许虹上海市第十人民医院上海200072

目的探讨智能AI平台随访用于辅助生殖技术护理管理的效果。方法选取医院生殖医学中心2022年7月至2023年5月接诊的辅助生殖技术治疗患者400例,将其分为对照组与观察组,各200例,分别采取常规随访模式和智能AI平台随访管理模式。两组均管理... 详细信息

目的探讨智能AI平台随访用于辅助生殖技术护理管理的效果。方法选取医院生殖医学中心2022年7月至2023年5月接诊的辅助生殖技术治疗患者400例,将其分为对照组与观察组,各200例,分别采取常规随访模式和智能AI平台随访管理模式。两组均管理2个月。结果管理后,观察组自我管理能力(ESCA)评分为(121.96±20.12)分,显著高于对照组的(98.81±15.42)分(P<0.05);观察组配合积极性为100.00%,显著高于对照组的91.00%(P<0.05);观察组随访满意度为97.00%,显著高于对照组的88.50%(P<0.05)。结论智能AI平台随访能有效提升医院内部资源的高效利用度,同时激发患者的自我管理能力,打造良性的护患随访管理体系,可提升患者的配合积极性和满意度。

关键词：智能AI平台随访辅助生殖技术护理管理

A combination of follicle stimulating hormone, estradiol and age is associated with the pregnancy outcome for women undergoing assisted reproduction: a retrospective cohort analysis

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Science China(Life Sciences) 2019年第1期62卷 112-118页

作者： Ziru Jiang Li Jin weihui shi Ji Xi Yulian Hu Xinmei Liu Jianzhong Sheng Guolian Ding Hefeng Huang The International Peace Maternity and Child Health Hospital School of Medicine Shanghai Jiao Tong University Institute of Embryo-Fetal Original Adult Disease Shanghai Key Laboratory for Reproductive Medicine School of Medicine Shanghai Jiao Tong University Department of Pathology and Pathophysiology School of Medicine Zhejiang University

To investigate the effect of basal hormone levels including follicle stimulating hormone(FSH) and estradiol(E2) and age on the pregnancy outcomes in women undergoing in vitro fertilization and embryo transfer(IVF-ET), we designed a retrospective cohort analysis and collected information of patients undergoing IVF between January 2014 and April 2017. We found that young women had much better pregnancy outcomes than older women regardless of the hormone levels. The pregnancy outcomes declined in young women with high basal E2, even though they had normal FSH. Older women with higher FSH had a worse outcome of pregnancy, especially with increased E2 level. The results suggest that a combination of FSH, E2 and age could effectively predict the pregnancy outcome for women undergoing IVF-ET, and we should encourage infertile women with diminished ovarian reserve, especially young infertile women, to try the assisted reproduction as early as possible. After 40-yearold, the cost-benefit ratio should be considered according to the ovarian function.

关键词： follicle stimulating hormone estradiol age pregnancy outcome assisted reproduction

INTERACTIVE DATA ENCRYPTION STRATEGY FOR DISTRIBUTED SIMULATION SYSTEM

在线全文

学校读者我要写书评

暂无评论

International Journal of Modeling, Simulation, and Scientific Computing 2013年第4期4卷 62-72页

作者： XIN LIN weihui shi YONGXIANG DU School of Automation Science and Electrical Engineering BeiHang University Beijing100191P.R.China

The distributed simulation system interoperation can be divided into six *** data encryption can be completed in each level,lead to six encryption strategies:data field encryption,data package encryption,program module encryption,simulation application encryption,simulation node encryption,and simulation system *** are four basic Encryption/decryption realization modes:serial modes with software or hardware realization,parallel modes based on embedded processor or FPGA/ASIC *** and Complex distributed simulation system may employ one or several encryption strategies and realization modes.

关键词： Interoperability encryption decryption security strategy

Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Journal of Bio-X Research 2018年第3期1卷 140-146页

作者： weihui shi Yiyao Chen Songchang Chen Shuyuan Li Chunxin Chang Lanlan Zhang Hongjun Fei Hefeng Huang Junyu Zhang Chenming Xu International Peace Maternity and Child Health Hospital Institute of Embryo-Fetal Original Adult Disease Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina

Kabuki syndrome(KS)is a rare congenital mental retardation condition characterized by facial dysmorphia,visceral and skeletal malformations,and developmental *** integrated phenotype and genotype-based prioritization is critical for diagnoses of genetic *** this study,a Chinese woman,presenting with characteristic facial features of KS,came for pre-pregnancy *** aimed to clarify the diagnosis and provide pre-pregnancy genetic *** dysmorphology analysis and next-generation sequencing-based multigene panel approach were used to identify candidate syndromes and causative variants,*** candidate variant was verified by Sanger *** identified a novel de novo KDM6A pathogenic variant(c.3521G>A)in the woman,which was in line with the Face2Gene analysis *** blood RNA assay showed that the variant transcript underwent the nonsense-mediated mRNA decay and led to subsequent haploinsufficiency of *** study provides the genetic diagnosis method for KS type 2 and identifies the first KDM6A point variant in Chinese patient.

关键词： facial analysis Kabuki syndrome type 2 RNA assay targeted sequencing

同方期刊数据库

Adaptive Space Expansion for Fast Motion Planning

在线全文

学校读者我要写书评

暂无评论

IEEE/CAA Journal of Automatica Sinica 2024年第6期11卷 1499-1514页

作者： Shenglei shi Jiankui Chen State Key Laboratory of Digital Manufacturing Equipment and Technology School of Mechanical Science and EngineeringHuazhong University of Science and TechnologyWuhan 430074China

The sampling process is very inefficient for sam-pling-based motion planning algorithms that excess random sam-ples are generated in the planning *** this paper,we pro-pose an adaptive space expansion(ASE)approach which belongs to the informed sampling category to improve the sampling effi-ciency for quickly finding a feasible *** ASE method enlarges the search space gradually and restrains the sampling process in a sequence of small hyper-ellipsoid ring subsets to avoid exploring the unnecessary ***,for a con-structed small hyper-ellipsoid ring subset,if the algorithm cannot find a feasible path in it,then the subset is ***,the ASE method successively does space exploring and space expan-sion until the final path has been ***,we present a particular construction method of the hyper-ellipsoid ring that uniform random samples can be directly generated in *** last,we present a feasible motion planner BiASE and an asymptoti-cally optimal motion planner BiASE*using the bidirectional exploring method and the ASE *** demon-strate that the computation speed is much faster than that of the state-of-the-art *** source codes are available at https://***/shshlei/ompl.

关键词： Adaptive space expansion(ASE) hyper-ellipsoid ring informed sampling motion planning.

No Reference Image Sharpness Assessment Based on Global Color Difference Variation

在线全文

学校读者我要写书评

暂无评论

Chinese Journal of Electronics 2024年第1期33卷 293-302页

作者： Chenyang shi Yandan LIN School of Artificial Intelligence Anhui Polytechnic University School of Mechanical Engineering Anhui Polytechnic University Department of Light Sources and Illuminating Engineering Fudan University Academy for Engineering & Technology Fudan University

Image quality assessment(IQA) model is designed to measure the image quality in consistent with subjective ratings by computational models. In this research, a valid no reference IQA(NR-IQA) model for color image sharpness assessment is proposed based on local color difference map in a color space. In the proposed model, the absolute color difference variation and relative color difference variation are combined to evaluate sharpness in YIQ color space(a color coordinate system for the development of the United States color television system). The difference between sharpest and blurriest spot of an image is represented by the absolute color difference variation, and relative color difference variation expresses the variation in the image content. Extensive experiments are performed on five publicly available benchmark synthetic blur databases and two real blur databases, and the results prove that the proposed model work better than the other state-of-the-art and latest NR-IQA models for the prediction accuracy on blurry images. Besides, the model maintains the lowest computational complexity.

关键词： Image quality TV Image color analysis Databases Computational modeling Color Predictive models

An uncertainty investigation for liner impedance eduction methods

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

Chinese Journal of Aeronautics 2024年第3期37卷 49-59页

作者： Weihao shi Xiaodong JING School of Energy and Power Engineering Beihang UniversityBeijing 100191China

Impedance eduction methods have been developed for decades to meet the increasing need for high-quality impedance data in the design and optimization of acoustic *** this end,it is important to fully investigate the uncertainty problem,to which only limited attention has been devoted so *** paper considers the possibility of acoustically-induced structural vibration as a nonnegligible uncertainty or error source in impedance eduction *** the frequency moves away from the resonant frequency,with the increase in the value of cavity reactance,the acoustic particle velocity inside liner orifices possibly decreases to the extent comparable to the vibration velocity of liner facing ***,the acoustically-induced vibration,although generally being weak except at the inherent structural frequencies,may considerably affect the impedance eduction results near the anti-resonant frequency where the liner has poor *** demonstrate the effect of structural vibration,the vibration velocity of liner facing sheet is estimated from the experimentally educed admittance of the liner samples whose orifices are sealed with ***,a three-dimensional numerical model is set up,in which normal particle velocity is introduced over the solid portion of liner facing sheet to imitate structural vibration,rather than directly solving the acoustic-structural coupling *** shown by the results,the vibration of liner facing sheet,whose velocity is as small as estimated by the experiment,can result in anomalous deviation of the educed impedance from the impedance model near the anti-resonant *** trend that the anomalous deviation varies with frequency is numerically captured.

关键词： Impedance eduction Uncertainty analysis Acoustically-induced structural vibration Anti-resonant frequency Perforated liner

Quantization and Event-Triggered Policy Design for Encrypted Networked Control

在线全文

学校读者我要写书评

暂无评论

IEEE/CAA Journal of Automatica Sinica 2024年第4期11卷 946-955页

作者： Yongxia shi Ehsan Nekouei the Department of Electrical Engineering City University of Hong KongHong KongChina

This paper proposes a novel event-driven encrypted control framework for linear networked control systems(NCSs),which relies on two modified uniform quantization policies,the Paillier cryptosystem,and an event-triggered *** to the fact that only integers can work in the Pailler cryptosystem,both the real-valued control gain and system state need to be first quantized before *** is dramatically different from the existing quantized control methods,where only the quantization of a single value,e.g.,the control input or the system state,is *** handle this issue,static and dynamic quantization policies are presented,which achieve the desired integer conversions and guarantee asymptotic convergence of the quantized system state to the ***,the quantized system state is encrypted and sent to the controller when the triggering condition,specified by a state-based event-triggered strategy,is *** doing so,not only the security and confidentiality of data transmitted over the communication network are protected,but also the ciphertext expansion phenomenon can be ***,by tactfully designing the quantization sensitivities and triggering error,the proposed event-driven encrypted control framework ensures the asymptotic stability of the overall closedloop ***,a simulation example of the secure motion control for an inverted pendulum cart system is presented to evaluate the effectiveness of the theoretical results.

关键词： Cyber-security encrypted control event-triggered control(ETC) networked control systems(NCSs) semi-homomorphic encryption