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HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration

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Journal of Genetics and Genomics 2021年第8期48卷 727-736页

作者： Yu Sun Xiujuan Wei Fang Fang Yiping Shen Haiyan Wei Jiuwei Li Xianglai Ye yongkun zhan Xiantao Ye Xiaomin Liu Wei Yang Yuhua Li Xiangju Geng Xuelin Huang Yiyan Ruan Zailong Qin Shang Yi Jianxin Lyu Hezhi Fang Yongguo Yu Department of Pediatric Endocrinology and Genetics Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghai Institute for Pediatric ResearchShanghai 200092China Key Laboratory of Laboratory Medicine Ministry of EducationZhejiang Provincial Key Laboratory of Medical GeneticsSchool of Laboratory Medicine and Life SciencesWenzhou Medical UniversityWenzhou 325035China Department of Neurology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region Guangxi Birth Defects Prevention and Control InstituteNanning 530000China Shanghai Children's Medical Center Shanghai Jiao Tong University School of MedicineShanghai 200127China Boston Children's Hospital Harvard Medical SchoolBostonMA 02115USA Department of Endocrinologic and Inherited Metabolic Henan Childen's HospitalZhengzhou Children's HospitalZhengzhou 450078China Department of Radiology Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghai 200092China Department of Rehabilitation Henan Children's HospitalZhengzhou Children's HospitalZhengzhou 450018China Zhejiang Provincial People's Hospital Affiliated People's Hospital of Hangzhou Medical CollegeHangzhou 310014China Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition Shanghai 200092China

Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphenylpyruvate dioxygenase-like),which encodes an intermembrane mitochondrial protein,has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement ***,we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity,including developmental delay/intellectual disability,spasm,and *** different pathogenic variants are identified,of which five are *** fibroblasts and immortalized lymphocytes derived from patients show impaired mitochondrial respiratory function,which is also observed in HPDL-knockdown(KD)He La *** these He La cells,overexpression of a wild-type HPDL gene can rescue the respiratory phenotype of oxygen consumption *** addition,a decreased activity of the oxidative phosphorylation(OXPHOS)complex II is observed in patient-derived lymphocytes and HPDL-KD He La cells,further supporting an essential role of HPDL in the mitochondrial respiratory ***,our data expand the clinical and mutational spectra of this mitochondrial neuropathy and further delineate the possible disease mechanism involving the impairment of the OXPHOS complex II activity due to the bi-allelic inactivations of HPDL.

关键词： HPDL gene Mitochondrial disease Respiration impairment OXPHOS Respiration chain complexⅡ

Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy

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Protein & Cell 2022年第1期13卷 65-71页

作者： Bin Li yongkun zhan Qianqian Liang Chen Xu Xinyan Zhou Huanhuan Cai Yufan Zheng Yifan Guo Lei Wang Wenqing Qiu Baiping Cui Chao Lu Ruizhe Qian Ping Zhou Haiyan Chen Yun Liu Sifeng Chen Xiaobo Li Ning Sun Department of Physiology and Pathophysiology State Key Laboratory of Medical NeurobiologySchool of Basic Medical SciencesFudan UniversityShanghai 200032China Shanghai Institute of Precision Medicine Ninth People's HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Shanghai Key Lab of Birth Defect Children's Hospital of Fudan UniversityShanghai 201102China Shanghai Key Laboratory of Clinical Geriatric Medicine Research Center on Aging and MedicineFudan UniversityShanghai 200032China Department of Echocardiography Zhongshan HospitalFudan UniversityShanghai 200032China Department of Biochemistry School of Basic Medical SciencesFudan UniversityShanghai 200032China

Dear Editor,Dilated cardiomyopathy(DCM)is a common form of inherited *** the past decades,single mutations in various genes encoding sarcomeric,cytoskeletal,and channel proteins *** been found to be associated with DCM(Hershberger et al.,2013;McNally and Mestroni,2017).However,the mechanisms how single mutations in sarcomeric or structural genes lead to the disease remain *** interesting phenomenon often seen in familial cardiomyopathy is that different single mutations on the same gene can cause either DCM or hypertrophic cardiomyopathy(HCM)(Kathiresan and Srivastava,2012),which exhibit almost opposite disease *** is characterized by thinned myocardium and septum,ventricular chamber dilation,and systolic dysfunction(Jefferies and Towbin,2010;McNally and Mestroni,2017),while HCM exhibits thickened myocardium and septum,reduced ventricular chamber,and diastolic dysfunction(Richard et al.,2003).At the cellular level,HCM cardiomyocytes exhibit concentric hypertrophy characterized by assembly of myofilaments in parallel and widening of the *** contrast,DCM cardiomyocytes show eccentric hypertrophy,with assembly of the myofilaments in series and myocyte elongation(Kehat and Molkentin,2010).

关键词： cardiomyopathy familial

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基于关系建模的弱监督时序动作定位

中国科学技术大学学报 2021年第10期51卷 753-765页

作者：占永昆杨文飞张天柱中国科学技术大学未来网络实验室安徽合肥230027

时序动作定位因其广泛的实际应用成为重要且具有挑战性的方向.由于全监督定位方法需要大量的人力对长视频进行视频帧或视频片段级别的细腻标注,近些年来,弱监督学习受到了越来越多的关注.弱监督动作定位在训练阶段只需提供视频级别类别... 详细信息

时序动作定位因其广泛的实际应用成为重要且具有挑战性的方向.由于全监督定位方法需要大量的人力对长视频进行视频帧或视频片段级别的细腻标注,近些年来,弱监督学习受到了越来越多的关注.弱监督动作定位在训练阶段只需提供视频级别类别标签,即可定位出视频中动作的区间位置.然而,大多数现存的方法往往只对独立的视频片段进行分类损失约束,而忽略了这些视频片段之间的关系.本文提出一种新的关系感知网络实现了基于弱监督的行为时序定位.通过考虑对视频内和视频间的片段进行关系建模,从而学习出更加鲁棒的视频动作定位特征表示.具体来说,视频内关系模块的目的是使得网络预测出更加完整的动作,而视频间关系模块的目是将动作从高度依赖的背景中分离出来.通过在THUOUS14,ActivityNet1.2/1.3等三个公共基准定位数据集上进行实验,与最新的方法比,我们提出的方法取得了更好的结果.

关键词：时序动作定位弱监督学习关系建模

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上承式悬带桥力学特性实验和模拟分析

实验室研究与探索 2024年第6期43卷 7-10页

作者：任九生詹永坤李亚琳张能辉上海大学力学与工程科学学院上海200444 上海大学上海市应用数学和力学研究所上海200444

为满足新工科人才培养需求,结合结构力学课程改革,开发了上承式悬带桥力学特性分析的高阶教学模块。针对3D打印制备上承式悬带桥模型开展了变形和破坏性实验,对结构内力和变形进行有限元数值模拟,分析结构的位移-载荷关系等力学特性。... 详细信息

为满足新工科人才培养需求,结合结构力学课程改革,开发了上承式悬带桥力学特性分析的高阶教学模块。针对3D打印制备上承式悬带桥模型开展了变形和破坏性实验,对结构内力和变形进行有限元数值模拟,分析结构的位移-载荷关系等力学特性。教学实践表明,实验、数值模拟和理论结合的高阶模块的探索有助于加强学生对理论知识的理解,有利于培养学生解决工程问题的能力。

关键词：上承式悬带桥内力变形模拟实验有限元计算

Evolution of Microstructures and Mechanical Properties of Zr-Containing Y-CLAM During Thermal Aging

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Acta Metallurgica Sinica(English Letters) 2020年第6期33卷 881-891页

作者： Dongping zhan Guoxing Qiu Changsheng Li yongkun Yang Zhouhua Jiang Huishu zhang School of Metallurgy Northeastern UniversityShenyang 110819China State Key Laboratory of Rolling and Automation Northeastern UniversityShenyang 110819China School of Metallurgical Engineering Xi'an University of Architecture and TechnologyXi'an 710055China School of Metallurgy Engineering Liaoning Institute of Science and TechnologyBenxi 117004China

The thermal stability and mechanical properties of China low activation martensitic steel with Zr and Y were investigated via thermal aging at 550 °C for 8000 h. The Laves phase content monotonically increased with thermal aging, and the volume fraction of the Laves phases stabilized in the alloy after 3000 h of thermal aging. The observed degradation in mechanical properties was because of the coarsening of M23C6 carbides and matrix grains during the earlier stages of thermal aging. The precipitation of Laves phases and V3Zr3C particles increased the strength and hardness of the alloy. Grain coarsening was the primary reason for the decrease in impact properties, and the ductile-to-brittle transition temperature increased from-71 to -48 °C after 8000 h of thermal aging.

关键词： Thermal stability Zr-containing RAFM Precipitation Microstructures Mechanical properties

地塞米松对腹腔镜结直肠癌根治术患者腹横肌平面阻滞镇痛效果的影响

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转化医学杂志 2024年第6期13卷 939-944页

作者：廖成群李增强詹永堃章梦超黄建平邵武市立医院麻醉科福建邵武354000 福建医科大学附属第一医院麻醉科福州354000

目的探讨地塞米松对腹腔镜结直肠癌根治术患者腹横肌平面阻滞(TAPB)镇痛效果的影响。方法选取2021年5月至2024年3月邵武市立医院收治的120例腹腔镜结直肠癌根治术患者作为研究对象,按照随机数表法分为A组、B组、C组,每组40例。其中A组... 详细信息

目的探讨地塞米松对腹腔镜结直肠癌根治术患者腹横肌平面阻滞(TAPB)镇痛效果的影响。方法选取2021年5月至2024年3月邵武市立医院收治的120例腹腔镜结直肠癌根治术患者作为研究对象,按照随机数表法分为A组、B组、C组,每组40例。其中A组只接受全身麻醉,B组全身麻醉后在超声引导下行TAPB,C组在B组的基础上加用地塞米松。比较3组围手术期指标(瑞芬太尼用量、首次补救镇痛时间、补救镇痛药物用量)、镇痛效果[疼痛数字评分法(NRS)评分]、炎症指标[白细胞介素6(IL-6)、肿瘤坏死因子α(TNF-α)]、应激指标[皮质醇(Cor)、去甲肾上腺素(NE)、丙二醛(MDA)]以及不良反应情况。结果A组瑞芬太尼用量、补救镇痛药物用量高于B组和C组,首次补救镇痛时间少于B组和C组,差异有统计学意义(P0.05);B组首次补救镇痛时间少于C组,补救镇痛药物用量高于C组,差异有统计学意义(P0.05);B组术后6 h、12 h、24 h的NRS评分高于C组,差异有统计学意义(PB组>C组,差异有统计学意义(PB组>C组,差异有统计学意义(P0.05)。结论静脉注射地塞米松(麻醉诱导前)+全身麻醉后超声引导下行TAPB可提高腹腔镜结直肠癌根治术患者的镇痛效果,减少阿片类药物的消耗,并且可减轻术后炎症反应和应激反应。

关键词：腹腔镜结直肠癌根治术地塞米松腹横肌平面阻滞镇痛效果炎症反应

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激光原型装置KBAX射线显微镜网格测试

强激光与粒子束 2010年第1期22卷 75-78页

作者：董建军曹柱荣袁永腾詹夏宇刘慎业丁永坤中国工程物理研究院激光聚变研究中心四川绵阳621900

利用光线追迹的方法模拟了KBA显微镜成像,确定了光轴的方向并计算了KBA显微镜的几何调制传递函数。根据KBA模拟光路,提出了利用可见光作为模拟KBAX射线显微镜的光轴在激光原型装置上的瞄准和安装的方法,该方法掠入射角的调节精度为0.25... 详细信息

利用光线追迹的方法模拟了KBA显微镜成像,确定了光轴的方向并计算了KBA显微镜的几何调制传递函数。根据KBA模拟光路,提出了利用可见光作为模拟KBAX射线显微镜的光轴在激光原型装置上的瞄准和安装的方法,该方法掠入射角的调节精度为0.25°。利用周期为20μm的Ni网格在激光原型装置上对KBA显微镜进行了X射线成像实验,用X射线CCD记录图像,获得了较清晰的网格图像。

关键词： KBA-X射线显微镜光线追迹激光原型装置掠入射

First experimental comparisons of laser-plasma interactions between spherical and cylindrical hohlraums at SGⅢ laser facility

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Matter and Radiation at Extremes 2017年第2期2卷 77-86页

作者： Yaohua Chen Zhichao Li Xufei Xie Chunyang Zheng Chuanlei Zhai Liang Hao Dong Yang Wenyi Huo Guoli Ren Jie Liu Xiaoshi Peng Tao Xu Yulong Li Sanwei Li Zhiwen Yang Liang Guo Lifei Hou Yonggang Liu Huiyue Wei Xiangming Liu Weiyi Cha Yukun Li Keli Deng Zheng Yuan Xiayu zhan Haijun zhang Baibin Jiang Wei zhang Kai Du Xuewei Deng yongkun Ding Xiaofeng Wei Wanguo Zheng Xiaodong Chen Xiantu He Ke Lan Institute of Applied Physics and Computational Mathematics Beijing100088China Research Center of Laser Fusion China Academy of Engineering PhysicsMianyang621900China Center for Applied Physics and Technology Peking UniversityBeijing100871China Collaborative Innovation Center of IFSA Shanghai Jiao Tong UniversityShanghai200240China

We present our recent laser-plasmas instability(LPI)comparison experiment at the SGIII laser facility between the spherical and cylindrical *** kinds of filling are considered:vacuum,gas-filling with or without a capsule inside.A spherical hohlraum of 3.6 mm in diameter,and a cylindrical hohlraum of 2.4 mm?4.3 mm are *** capsule diameter is 0.96 mm.A flat-top laser pulse with 3 ns duration and up to 92.73 kJ energy is *** experiment has shown that the LPI level in the spherical hohlraum is close to that of the outer beam in the cylindrical hohlraum,while much lower than that of the inner *** experiment is further simulated by using our 2-dimensional radiation hydrodynamic code LARED-Integration,and the laser back-scattering fraction and the stimulated Raman scatter(SRS)spectrum are post-processed by the high efficiency code of laser interaction with plasmas *** to the simulation,the plasma waves are strongly damped and the SRS is mainly developed at the plasma conditions of electron density from 0.08 n_(c) to 0.1 n_(c) and electron temperature from 1.5 keV to 2.0 keV inside the ***,obvious differences between the simulation and experiment are found,such as that the SRS back-scattering is underestimated,and the numerical SRS spectrum peaks at a larger wavelength and at a later time than the *** dif-ferences indicate that the development of a 3D radiation hydrodynamic code,with more accurate physics models,is mandatory for spherical hohlraum study.

关键词： Laser-plasmas interactions Spherical hohlraum Stimulated Raman scattering Stimulated Brillouin scattering

KBA-X射线显微镜空间分辨力模拟和Au网格实验测量

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强激光与粒子束 2011年第9期23卷 2415-2418页

作者：董建军杨正华曹柱荣韦敏习詹夏宇刘慎业丁永坤中国工程物理研究院激光聚变研究中心四川绵阳621900

通过光线追踪模拟在SGⅡ激光装置上利用第9路激光入射到Cu背光靶面产生X射线,通过Au网格背光照相,利用KBA显微镜对此网格成像,获得了清晰的网格图像。通过对实验网格数据的分析发现:在掠射角减小的方向,空间分辨力随视场的变化比掠射角... 详细信息

通过光线追踪模拟在SGⅡ激光装置上利用第9路激光入射到Cu背光靶面产生X射线,通过Au网格背光照相,利用KBA显微镜对此网格成像,获得了清晰的网格图像。通过对实验网格数据的分析发现:在掠射角减小的方向,空间分辨力随视场的变化比掠射角增大的方向变化小,与光线追踪模拟比较,二者均表明KBA的视场是非对称的,从实验图像数据得出,视场的不对称相对于中心位置约为30%。

关键词： KBA-X射线显微镜视场掠入射角光线追踪模拟空间分辨力