检索结果-南通市图书馆

Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy(DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene

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 Zhejiang University-Science B(Biomedicine & Biotechnology) 2019年第9期20卷 753-771页

作者： Yan-mei YANG Kai YAN Bei LIU Min CHEN Li-ya WANG Ying-zhi HUANG ye-qing qian Yi-xi SUN Hong-ge LI Min-yue DONG Department of Reproductive Genetics Women's HospitalSchool of MedicineZhejiang UniversityHangzhou 310006China Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of EducationHangzhou 310006China Key Laboratory of Women's Reproductive Health of Zhejiang Province Hangzhou 310006China

Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD)are caused by mutations in the DMD *** aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected *** in 100 unrelated DMD/BMD patients were detected by multiplex ligation-dependent probe amplification(MLPA)and next-generation sequencing(NGS).Pathogenic variants in DMD were successfully identified in all cases,and 11 of them were *** most common mutations were intragenic deletions(69%),with two hotspots located in the 5'end(exons 2–19)and the central of the DMD gene(exons 45–55),while point mutations were observed in 22%***,c.1149+1G>A and c.1150?2A>G were confirmed by hybrid minigene splicing assay(HMSA).This two splice site mutations would lead to two aberrant DMD isoforms which give rise to severely truncated ***,the clinical use of MLPA,NGS,and HMSA is an effective strategy to identify ***,eight embryos were terminated pregnancies according to prenatal diagnosis and a healthy boy was successfully delivered by preimplantation genetic diagnosis(PGD).Early and accurate genetic diagnosis is essential for prenatal diagnosis/PGD to reduce the risk of recurrence of DMD in affected families.

关键词： Dystrophin gene Variation Genetic diagnosis Splice site mutation Hybrid minigene splicing assay

Enhancing blocking temperature using inverse hydrogen bonds for non-radical bridged dimeric Dy(Ⅲ) single-molecule magnets

在线全文

学校读者我要写书评

暂无评论

Science China Chemistry 2024年第10期67卷 3328-3338页

作者： Peng-Bo Jin qian-Cheng Luo ye-ye Liu Yan-Zhen Zheng Frontier Institute of Science and Technology State Key Laboratory of Electrical Insulation and Power EquipmentMOE Key Laboratory for Nonequilibrium Synthesis and Modulation of Condensed MatterXi'an Key Laboratory of Electronic Devices and Material Chemistry and School of ChemistryXi'an Jiaotong University

Single-molecule magnets（SMMs） are a kind of nanosized magnetic materials that are capable of storing massive bytes of *** coupling the spin centers in a proper manner is a usual approach to promote the working temperature（or blocking temperature） for *** delocalized radicals have been widely employed to accomplish this ***,we show a new manner by using weak but multiple B–Hδ-···Dy3+inverse hydrogen bonding（IHB） interactions to control the magnetic couplings in a series of dimeric dysprosiacaborane *** approach leads to a record high TB100sof 10 K among non-radical bridged dimeric SMMs,which is mainly ascribed to strong ferromagnetic coupling(4.38 cm-1) and the proper alignment of the magnetic principle axes of the adjacent dysprosium（Ⅲ） *** verifying by theoretical calculations,these results demonstrate that IHB interactions can be used to construct strong axial ferromagnetic coupling and enhancing magnetic blocking temperature for SMMs.

关键词： single-molecule magnets carborane dysprosium ferromagnetic coupling inverse hydrogen bond

Intravitreal conbercept injection with panretinal photocoagulation for high-risk proliferative diabetic retinopathy with vitreous hemorrhage

在线全文

同方期刊数据库

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2024年第6期17卷 1066-1072页

作者： Yao Xu qing ye Wei Shen Department of Ophthalmology the Fourth Affiliated Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina Department of Ophthalmology Suzhou Kowloon HospitalShanghai Jiao Tong University School of MedcineSuzhou 215000Jiangsu ProvinceChina Department of Ophthalmology the First Affiliated Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina

AIM:To assess the clinical efficacy and safety of combining panretinal photocoagulation(PRP)with intravitreal conbercept(IVC)injections for patients with high-risk proliferative diabetic retinopathy(HR-PDR)complicated by mild or moderate vitreous hemorrhage(VH),with or without diabetic macular edema(DME).METHODS:Patients diagnosed with VH with/without DME secondary to HR-PDR and received PRP combined with IVC injections were recruited in this retrospective *** establishing the patient’s diagnosis,an initial IVC was performed,followed by prompt administration of *** cases who significant bleeding persisted and impeded the laser operation,IVC was sustained before supplementing with *** the completion of PRP,patients were meticulously monitored for a minimum of six *** therapy and IVC injections were judiciously adjusted based on fundus fluorescein angiography(FFA)*** effect and the incidence of adverse events were ***:Out of 42 patients(74 eyes),29 were male and 13 were female,with a mean age of 59.17±12.74y(33-84y).The diabetic history was between 1wk and 26y,and the interval between the onset of visual symptoms and diagnosis of HR-PDR was *** affected eye received 2.59±1.87(1-10)IVC injections and underwent 5.5±1.02(4-8)sessions of *** these,68 eyes received PRP following 1 IVC injection,5 eyes after 2 IVC injections,and 1 eye after 3 IVC *** absorption of VH was observed in all 74 eyes 5-50wk after initial treatment,with resolution of DME in 51 eyes 3-48wk after initial treatment.A newly developed epiretinal membrane was noted in one *** acuity significantly improved in 25 *** complications such as glaucoma,retinal detachment,or endophthalmitis were ***:The study suggests that the combination of PRP with IVC injections is an effective and safe modality for treating diabetic VH in patients with HR-PDR.

关键词： conbercept panretinal photocoagulation high-risk proliferative diabetic retinopathy vitreous hemorrhage

A multi-enzymatic cascade reaction for the synthesis of bioactive C-oligosaccharides

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

Chinese Chemical Letters 2024年第6期35卷 451-455页

作者： Kebo Xie qian Zhang Fei ye Jungui Dai State Key Laboratory of Bioactive Substance and Function of Natural Medicines CAMS Key Laboratory of Enzyme and Biocatalysis of Natural Drugs and NHC Key Laboratory of Biosynthesis of Natural ProductsInstitute of Materia MedicaChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100050China

C-Oligosaccharides are rare in nature and possess diverse ***,their chemical synthesis faces many *** this work,enzymatic introduction of C-linked sugar chains to target aglycones was successfully achieved by multi-enzymatic cascade reactions.A C-glycosyltransferase from Aloe barbadensis was employed to introduce the first C-linked glucose and then a cyclomaltodextrin glucanotransferase from Bacillus licheniformis was used to extend the sugar chain.A total of twenty C-oligosaccharides with 2-6 sugars were synthesized from scale-up reactions and exhibited good water solubility and sodium-dependent glucose transporter 2(SGLT2)inhibitory ***,a glucoamylase was used to control the length of the sugar chain and the C-maltosides were efficiently *** findings not only expanded the structural diversity of C-oligosaccharides,but also provided a strategy for the modification of C-glycoside drugs to improve the druggability.

关键词： C-Oligosaccharides C-Glycosyltransferase Cyclomaltodextrin glucanotransferase Glucoamylase Enzymatic synthesis SGLT2 inhibitory activity

Diagnostic values of questionnaires of Convergence Insufficiency Symptom Survey and College of Optometrists Vision Development Quality of Life in the screening of convergence insufficiency

在线全文

学校读者我要写书评

暂无评论

International Journal of Ophthalmology(English edition) 2024年第5期17卷 904-908页

作者： Ling Xiong qian Chen ye Wu Department of Ophthalmology West China HospitalSichuan University/Laboratory of Optometry and Vision ScienceWest China School of MedicineChengdu 610041Sichuan ProvinceChina Department of Clinical Research Management Center of BiostatisticsDesignMeasurement and EvaluationWest China HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina

AIM:To compare and analyse the diagnostic efficacy of the College of Optometrists Vision Development Quality of Life Questionnaire(COVD-QOL)and the Convergence Insufficiency Symptom Survey(CISS)in detecting convergence insufficiency and to compare their diagnostic value in clinical ***:Using the diagnostic test method,62 adult patients with convergence insufficiency(age:24.74±3.75y)and 62 normal participants(age:23.61±3.13y)who visited the Optometry Clinic of West China Hospital of Sichuan University from April 2021 to January 2023 were *** subjects completed the CISS and *** analysis of the sensitivity and specificity of the CISS and COVD-QOL and comparison and joint experimental analysis of their diagnostic efficacy were ***:The sensitivity of the CISS and COVD-QOL for convergence insufficiency was 64.5%and 71.0%,respectively,while the specificity was 96.8%and 67.7%,*** to the CISS alone,the combination of the CISS and COVD-QOL demonstrated lower sensitivity and *** areas under the receiver operating characteristic curve of CISS,COVD-QOL and CISS combined with COVD-QOL were 0.806,0.694 and 0.782,***:Considering the low sensitivity of the CISS and the low specificity of the COVD-QOL,it is recommended to supplement these questionnaires with other screening tests for the detection of convergence insufficiency.

关键词： convergence insufficiency symptom survey College of Optometrists Vision Development Quality of Life Questionnaire convergence insufficiency asthenopia

Distributed Nash Equilibrium Seeking Strategies Under Quantized Communication

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

IEEE/CAA Journal of Automatica Sinica 2024年第1期11卷 103-112页

作者： Maojiao ye qing-Long Han Lei Ding Shengyuan Xu Guobiao Jia IEEE the School of Automation Nanjing University of Science and TechnologyNanjing 210094China the School of Science Computing and Engineering TechnologiesSwinburne University of TechnologyMelbourne VIC 3122Australia the Institute of Advanced Technology Nanjing University of Posts and TelecommunicationsNanjing 210023China

This paper is concerned with distributed Nash equi librium seeking strategies under quantized communication. In the proposed seeking strategy, a projection operator is synthesized with a gradient search method to achieve the optimization o players' objective functions while restricting their actions within required non-empty, convex and compact domains. In addition, a leader-following consensus protocol, in which quantized informa tion flows are utilized, is employed for information sharing among players. More specifically, logarithmic quantizers and uniform quantizers are investigated under both undirected and connected communication graphs and strongly connected digraphs, respec tively. Through Lyapunov stability analysis, it is shown that play ers' actions can be steered to a neighborhood of the Nash equilib rium with logarithmic and uniform quantizers, and the quanti fied convergence error depends on the parameter of the quan tizer for both undirected and directed cases. A numerical exam ple is given to verify the theoretical results.

关键词： Consensus distributed Nash equilibrium seeking projected gradient play quantized communication

A Comparative Study on the Post-Buckling Behavior of Reinforced Thermoplastic Pipes(RTPs)Under External Pressure Considering Progressive Failure

在线全文

学校读者我要写书评

暂无评论

China Ocean Engineering 2024年第2期38卷 233-246页

作者： DING Xin-dong WANG Shu-qing LIU Wen-cheng ye Xiao-han College of Engineering Ocean University of ChinaQingdao 266100China Shandong Provincial Key Laboratory of Ocean Engineering Ocean University of ChinaQingdao 266100China Department of Marine Technology Norwegian University of Science and Technology(NTNU)Trondheim NO-7491Norway

The collapse pressure is a key parameter when RTPs are applied in harsh deep-water *** investigate the collapse of RTPs,numerical simulations and hydrostatic pressure tests are *** the numerical simulations,the eigenvalue analysis and Riks analysis are combined,in which the Hashin failure criterion and fracture energy stiffness degradation model are used to simulate the progressive failure of composites,and the“infinite”boundary conditions are applied to eliminate the boundary *** for the hydrostatic pressure tests,RTP specimens were placed in a hydrostatic chamber after filled with *** has been observed that the cross-section of the middle part collapses when it reaches the maximum *** collapse pressure obtained from the numerical simulations agrees well with that in the ***,the applicability of NASA SP-8007 formula on the collapse pressure prediction was also *** has a relatively greater difference because of the ignorance of the progressive failure of *** the parametric study,it is found that RTPs have much higher first-ply-failure pressure when the winding angles are between 50°and 70°.Besides,the effect of debonding and initial ovality,and the contribution of the liner and coating are also discussed.

关键词： reinforced thermoplastic pipes post-buckling behavior progressive failure of composites debonding initial ovality

Color-polarization synergistic target detection method considering shadow interference

在线全文

学校读者我要写书评

暂无评论

Defence Technology（防务技术） 2024年第7期37卷 50-61页

作者： Bin Feng Jinpei Xiao Junchao Zhang Lin Li Yunlong Wu qing ye School of Automation Northwestern Polytechnical UniversityXi'an710072China School of Automation Central South UniversityChangsha410083China State Key Laboratory of Pulsed Power Laser Technology National University of Defense TechnologyHefei230037China

Aiming at the problem of shadow interference in UAV's ground reconnaissance,a color and polarization synergistic target detection method is proposed for anti-shadow interference,based on the influence of two physical characteristics(wavelength and polarization)under different illuminations.A valid fusion strategy is proposed via integrating two separate detection results on color and polarization ***,a local enhancement and recognition module(LER)is introduced to boost the *** on our built dataset,experimental results show that our method achieves mAPof 87.76%,and12.37%higher than that of color image and 14.68%higher than that of polarization image.

关键词： Electro-optical countermeasure Ground reconnaissance Color-polarization Shadow interference Target recognition

Preparation and Reinforcement Adaptability of Jute Fiber Reinforced Magnesium Phosphate Cement Based Composite Materials

在线全文

学校读者我要写书评

暂无评论

Journal of Wuhan University of Technology(Materials Science) 2024年第4期39卷 999-1009页

作者：刘芯州郭远臣 WANG Rui XIANG Kai WANG Xue ye qing College of Civil Engineering Chongqing Three Gorges UniversityChongqing 404100China

To improve the brittleness characteristics of magnesium phosphate cement-based materials(MPC)and to promote its promotion and application in the field of structural reinforcement and repair,this study aimed to increase the toughness of MPC by adding jute fiber,explore the effects of different amounts of jute fiber on the working and mechanical properties of MPC,and prepare jute fiber reinforced magnesium phosphate cement-based materials(JFRMPC)to reinforce damaged *** improvement effect of beam performance before and after reinforcement was compared,and the strengthening and toughening mechanisms of jute fiber on MPC were explored through microscopic *** experimental results show that,as the content of jute fiber(JF)increases,the fluidity and setting time of MPC decrease continuously;When the content of jute fiber is 0.8%,the compressive strength,flexural strength,and bonding strength of MPC at 28 days reach their maximum values,which are increased by 18.0%,20.5%,and 22.6%compared to those of M0,*** beam strengthened with JFRMPC can withstand greater deformation,with a deflection of 2.3 times that of the unreinforced beam at *** strain of the steel bar is greatly reduced,and the initial crack and failure loads of the reinforced beam are increased by 192.1%and 16.1%,respectively,compared to those of the unreinforced *** JF added to the MPC matrix dissipates energy through tensile fracture and debonding pull-out,slowing down stress concentration and inhibiting the free development of cracks in the matrix,enabling JFRMPC to exhibit higher strength and better *** JF does not cause the hydration of MPC to generate new compounds but reduces the amount of hydration products generated.

关键词： magnesium phosphate cement jute fiber reinforcement of damaged beam flexural behavior