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Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura

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Current Medical Science 2023年第5期43卷 1043-1050页

作者： Xiao WANG Xing-jie HAO Cheng-guqiu DAI Ya-jie DING Lv XIONG Jun DENG jing-jing jiang Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Epidemiology and Biostatistics Key Laboratory for Environment and HealthSchool of Public HealthTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Institute of Hematology Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China

Objective Thrombotic thrombocytopenic purpura(TTP)is a rare and fatal disease caused by a severe deficiency in the metalloprotease ADAMTS13 and is characterized by thrombotic microangiopathy.The present study aimed to investigate the genes and variants associated with TTP in a Chinese population.Methods Target sequencing was performed on 220 genes related to complements,coagulation factors,platelets,fibrinolytic,endothelial,inflammatory,and anticoagulation systems in 207 TTP patients and 574 controls.Subsequently,logistic regression analysis was carried out to identify the TTP-associated genes based on the counts of rare deleterious variants in the region of a certain gene.Moreover,the associations between common variants and TTP were also investigated.Results ADAMTS13 was the only TTP-associated gene(OR=3.77;95%CI:1.82–7.81;P=3.6×10^(-4))containing rare deleterious variants in TTP patients.Among these 8 variants,5 novel rare variants that might contribute to TTP were identified,including rs200594025,rs782492477,c.T1928G(p.I643S),c.3336_3361del(p.Q1114Afs*20),and c.3469_3470del(p.A1158Sfs*17).No common variants associated with TTP were identified under the stringent criteria of correction for multiple testing.Conclusion ADAMTS13 is the primary gene related to TTP.The genetic variants associated with the occurrence of TTP were slightly different between the Chinese and European populations.

关键词： thrombotic thrombocytopenia purpura ADAMTS13 target sequencing

A Comparative Study Between Tumor Blood Vessels and Dynamic Contrast-enhanced MRI for Identifying Isocitrate Dehydrogenase Gene 1(IDH1)Mutation Status in Glioma

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Current Medical Science 2022年第3期42卷 650-657页

作者： Shi-hui LI Nan-xi SHEN Di WU Ju ZHANG Jia-xuan ZHANG jing-jing jiang Wen-zhen ZHU Department of Radiology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective Isocitrate dehydrogenase gene(IDH)mutations are associated with tumor angiogenesis and therefore play an important role in glioma management.This study compared the performance of tumor blood vessels counted from contrast-enhanced 3D brain volume(3D-BRAVO)sequence and dynamic contrast-enhanced(DCE)MRI in differentiating IDH1 status in gliomas.Methods Forty-four glioma patients[16 with IDH1 mutant-type(IDH1-MT),28 with IDH1 wild-type(IDH1-WT)]were retrospectively analyzed.A blood vessel entering a tumor was defined as an intratumoral vessel;a blood vessel adjacent to the edge of a tumor was defined as a peritumoral vessel.Combined vessels were defined as the sum of the intratumoral and peritumoral vessels.DCE-derived metrics of tumor were normalized to the contralateral normal-appearing white matter.Results Intratumoral,peritumoral,and combined tumor blood vessels were all significantly different between IDH1-MT and IDH1-WT gliomas,and the range of area under curves(AUCs)was 0.816–0.855.For DCE-derived parameters,cerebral blood volume,cerebral blood flow,mean transit time,and volume transfer constant were significantly different between IDH1-MT and IDH1-WT gliomas,and the range of AUCs was 0.703–0.756.Combined vessels possessed the best performance for identifying IDH1 mutations in gliomas(AUC:0.855,sensitivity:0.857,specificity:0.812,P<0.001).Conclusion The number of tumor blood vessels has comparable diagnostic performance with DCE-derived parameters for differentiating IDH1 mutations and can serve as a potential imaging biomarker to reflect IDH1 mutations in gliomas.

关键词： dynamic contrast-enhanced perfusion glioma isocitrate dehydrogenase gene tumor blood vessel

Effect of Metabolic Syndrome Score, Metabolic Syndrome, and Its Individual Components on the Prevalence and Severity of Angiographic Coronary Artery Disease

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Chinese Medical Journal 2017年第6期130卷 669-677页

作者： Ming-Hui Gui Yan Ling Lin Liu jing-jing jiang Xiao-Ying Li Xin Gao Department of Endocrinology and Metabolism Shanghai Zhongshan Hospital Fudan University Shanghai 200032 China Fudan Institute for Metabolic Diseases Shanghai 200032 China

Background： The clinical significance of metabolic syndrome （MS） score, MS, and its individual components with respect to risk prediction of coronary artery disease （CAD） remains unclear. The objective of this study was to investigate whether and to what extent MS score, MS, and its individual components were related to the risk of CAD. Methods： Among 1191 participants who underwent coronary angiography for the confirmation of suspected myocardial ischemia, 858 were included in this study according to the inclusion criteria from September 2010 to June 2013. MS was diagnosed with the 2005 National Cholesterol Education Program Adult Treatment Panel III criteria. The severity of coronary atherosclerosis was assessed by Gensini score. Results： The results showed that the age- and sex-adjusted odds ratios （ORs） tbr CAD were as follows： MS score, 1.327; MS, 2.013; elevated waist circumference, 1.447; reduced high-density lipoprotein cholesterol, 1.654： and elevated fasting glucose, 1.782： all P〈 0.05： whereas for elevated triglycerides, 1.324, and elevated blood pressure, 1.342, both P 〉 0.05. Alter multivariate adjustment, results showed that only MS and elevated fasting glucose were significantly associated with CAD （OR, 1.628, 95% confidence interval [CI], 1.151-2.305, P = 0.006 for elevated fasting glucose, and OR, 1.631, 95% CI, 1.208-2.203, P = 0.001 for MS）. The study showed that only MS score and elevated fasting glucose were significantly associated with Gensini score （standardized coefficient, 0.101, P = 0.031 for elevated fasting glucose and standardized coefficient, 0.103, P = 0.009 for MS score）. Conclusions： The present study demonstrated that MS score, MS, and its individual components might have different contributions to CAD prevalence and severity. MS and elevated fasting glucose were independent risk factors for the prevalence of angiographic CAD whereas MS score and elevated fasting glucose were significantly associated with the severity of CAD.

关键词： Coronary Angiography Coronary Artery Disease： Metabolic Syndrome Metabolic Syndrome Score

Kappa angles in different positions in patients with myopia during LASIK

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International Journal of Ophthalmology(English edition) 2016年第4期9卷 585-589页

作者： Hui Qi jing-jing jiang Yan-Ming jiang Li-Qiang Wang Yi-Fei Huang Department of Ophthalmology Chinese PLA General Hospital Department of Ophthalmology Bethune International Peace Hospital of PLA Department of Ophthalmology Beijing Children's HospitalCapital Medical University

AIM： To investigate the difference in kappa angle between sitting and supine positions during laser-assisted in situ keratomileusis（LASIK）.·METHODS： A retrospective study was performed on395 eyes from 215 patients with myopia that received LASIK. Low, moderate, and high myopia groups were assigned according to diopters. The horizontal and vertical components of kappa angle in sitting position were measured before the operation, and in supine position during the operation. The data from the two positions were compared and the relationship between kappa angle and diopters were analyzed.· RESULTS： Two hundred and twenty-three eyes（56.5%） in sitting position and 343 eyes（86.8%） in supine position had positive kappa angles. There were no significant differences in horizontal and vertical components of kappa angle in the sitting position or horizontal components of kappa angle in the supine position between the three groups（P 〉0.05）. A significant difference in the vertical components of kappa angle in the supine position was seen in the three groups（P 〈0.01）. Differences in both horizontal and vertical components of kappa angles were significant between the sitting and supine positions. Positive correlations in both horizontal and vertical components of kappa angles（P 〈0.05） were found and vertical components of kappa angle in sitting and supine positions were negatively correlated with the degree of myopia（sitting position： r =-0.109; supine position： r =-0.172; P 〈0.05）.·CONCLUSION： There is a correlation in horizontal and vertical components of kappa angle in sitting and supine positions. Positive correlations in both horizontal and vertical components of kappa angle in sitting and supine positions till the end of the results. This result still needs further observation. Clinicians should take into account different postures when excimer laser surgery needs to be performed.

关键词： kappa angle myopia keratomileusis laser in situ supine position

Effect of unilateral inferior oblique weakening on fundus torsion in bilateral eyes of children with congenital superior oblique palsy

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International Journal of Ophthalmology(English edition) 2020年第10期13卷 1637-1641页

作者： Yuan Wang Qian Wu jing-jing jiang Hui Li Wen Liu Cheng Li Xue-Qing Bai Ning-Dong Li Department of Ophthalmology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China Department of Ophthalmology Jilin Children Medical CenterChangchun Children's HospitalChangchun 130000Jilin ProvinceChina

AIM:To study the change of torsion in both eyes after unilateral inferior oblique(IO)weakening on children with congenital superior oblique palsy(SOP).METHODS:This retrospective study enrolled all patients diagnosed with unilateral congenital superior oblique palsy(UCSOP)accompanied by inferior oblique overaction(IOOA).A total of 120 eyes of 60 patients were divided into group 1(more extorted paretic eye)and group 2(more extorted nonparetic eye).The degree of fundus torsion was evaluated before and 1 mo after the IO weakening procedure.The torsion of the fundus was recorded by measuring the diskfoveal angle(DFA)using fundus photography.RESULTS:Group 1 included 26 cases and group 2 included 34 cases,thus the rate of extorsion was insignificantly higher in the nonparetic eye(P=0.10).The preoperative DFA in the paretic and nonparetic eyes was 13.21±5.95,7.97±4.25 in group 1,and 4.65±3.79,13.16±5.35 in group 2(both P<0.001).The postoperative DFA in the paretic and nonparetic eyes was 8.57±4.87,7.32±4.27 in group 1(P=0.24),and 3.85±6.00 and 9.94±5.45 in group 2(P<0.001).The amount of postoperative reduction of the DFA in the paretic and nonparetic eyes was 4.64±3.90,0.65±0.76 in group 1(P=0.002),and 0.80±0.81,3.21±5.50 in group 2(P=0.01).The difference in the amount of reduction of DFA in the more extorted eye in group 1(paretic eye)vs group 2(nonparetic eye)was insignificant(P=0.30).CONCLUSION:Excyclotorsion in the nonparetic eye has a similar probability in the paretic eye in UCSOP children,and weakening of the ipsilateral IO has a more obvious effect on the decrement of extorsion in the more extorted eye regardless of which eye is paretic.

关键词： superior oblique palsy ocular torsion discfoveal angle excyclotorsion

Gelfand-Kirillov Dimension and Reducibility of Scalar Generalized Verma Modules for Classical Lie Algebras

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Acta Mathematica Sinica,English Series 2024年第3期40卷 658-706页

作者： Zhan Qiang BAI jing jiang School of Mathematical Sciences Soochow UniversitySuzhou 215006P.R.China E-mail:zqbai@*** jjsd6514@***

Let g be a classical complex simple Lie algebra and q be a parabolic subalgebra.Let M be a generalized Verma module induced from a one dimensional representation of q.Such M is called a scalar generalized Verma module.In this paper,we will determine the reducibility of scalar generalized Verma modules associated to maximal parabolic subalgebras by computing explicitly the Gelfand-Kirillov dimension of the corresponding highest weight modules.

关键词： Generalized Verma module Gelfand-Kirillov dimension Young tableau

A Robust Framework for Multimodal Sentiment Analysis with Noisy Labels Generated from Distributed Data Annotation

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Computer Modeling in Engineering & Sciences 2024年第6期139卷 2965-2984页

作者： Kai jiang Bin Cao jing Fan School of Computer Science and Technology Zhejiang University of TechnologyHangzhou310023China

Multimodal sentiment analysis utilizes multimodal data such as text,facial expressions and voice to detect people’s attitudes.With the advent of distributed data collection and annotation,we can easily obtain and share such multimodal data.However,due to professional discrepancies among annotators and lax quality control,noisy labels might be introduced.Recent research suggests that deep neural networks(DNNs)will overfit noisy labels,leading to the poor performance of the DNNs.To address this challenging problem,we present a Multimodal Robust Meta Learning framework(MRML)for multimodal sentiment analysis to resist noisy labels and correlate distinct modalities simultaneously.Specifically,we propose a two-layer fusion net to deeply fuse different modalities and improve the quality of the multimodal data features for label correction and network training.Besides,a multiple meta-learner(label corrector)strategy is proposed to enhance the label correction approach and prevent models from overfitting to noisy labels.We conducted experiments on three popular multimodal datasets to verify the superiority of ourmethod by comparing it with four baselines.

关键词： Distributed data collection multimodal sentiment analysis meta learning learn with noisy labels

Impact of Carbon Chain Structures in the Backbone on the Flexibility of Modified Polyarylene Sulfide Resins: Molecular Dynamics Simulations and Mesoscopic Analysis

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Chinese Journal of Polymer Science 2024年第4期42卷 544-557页

作者： Chi Zhang Rong Liu jing-Yuan Liu Wen-Wei jiang Key Laboratory of Fine Chemical Engineering and Functional Materials School of Chemical EngineeringSichuan UniversityChengdu610065China

In the domain of high-performance engineering polymers, the enhancement of mechanical flexibility in poly(phenylene sulfide) (PPS) resins has long posed a significant challenge. A novel molecular structure, designated as PP-He-IS, wherein imide rings and an aliphatic hexylene chain are covalently incorporated into the PPS backbone to enhance its flexibility, is introduced in this study. Molecular dynamics (MD) simulations are employed to systematically explore the effects of diversifying the backbone chain structures by substituting phenyl units with alkyl chains of varying lengths, referred to as PP-A-IS where “A” signifies the distinct intermediary alkyl chain configurations. Computational analyses reveal a discernable decrement in the glass transition temperature (Tg) and elastic modulus, counterbalanced by an increment in yield strength as the alkyl chain length is extended. Notably, the PP-He-IS variant is shown to exhibit superior yield strength while simultaneously maintaining reduced elastic modulus and Tg values, positioning it as an advantageous candidate for flexible PPS applications. Mesoscopic analyses further indicate that structures such as PP-He-IS, PP-Pe-IS, and PP-Bu-IS manifest remarkable flexibility, attributable to the presence of freely rotatable carbon-carbon single bonds. Experimental validation confirms that a melting temperature of 504 K which is lower than that of conventional PPS, and lower crystallinity are exhibited by PP-He-IS, thereby affording enhanced processability without compromising inherent thermal stability. Novel insights into the strategic modification of PPS for mechanical flexibility are thus furnished by this study, which also accentuates the pivotal role played by molecular dynamics simulations in spearheading high-throughput investigations in polymer material modifications.

关键词： Molecular dynamics simulations Polyarylene Sulfide Main-chain modifications Flexibility Aliphatic hexylene chain

A Review on Engineering Design for Enhancing Interfacial Contact in Solid-State Lithium–Sulfur Batteries

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Nano-Micro Letters 2024年第4期16卷 219-252页

作者： Bingxin Qi Xinyue Hong Ying jiang jing Shi Mingrui Zhang Wen Yan Chao Lai School of Chemistry and Materials Science Jiangsu Normal UniversityXuzhou 221116JiangsuPeople’s Republic of China

The utilization of solid-state electrolytes(SSEs)presents a promising solution to the issues of safety concern and shuttle effect in Li–S batteries,which has garnered significant interest recently.However,the high interfacial impedances existing between the SSEs and the electrodes(both lithium anodes and sulfur cathodes)hinder the charge transfer and intensify the uneven deposition of lithium,which ultimately result in insufficient capacity utilization and poor cycling stability.Hence,the reduction of interfacial resistance between SSEs and electrodes is of paramount importance in the pursuit of efficacious solid-state batteries.In this review,we focus on the experimental strategies employed to enhance the interfacial contact between SSEs and electrodes,and summarize recent progresses of their applications in solidstate Li–S batteries.Moreover,the challenges and perspectives of rational interfacial design in practical solid-state Li–S batteries are outlined as well.We expect that this review will provide new insights into the further technique development and practical applications of solid-state lithium batteries.

关键词： Solid-state lithium–sulfur batteries Solid-state electrolytes Electrode/electrolyte interface Interfacial engineering Enhancing interfacial contact