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遗传性耳聋基因治疗临床指南

实用医院临床杂志 2024年第2期21卷 39-44页

作者：齐洁玉谈方志张李燕陆玲王洪阳李文妍刘闻闻付小龙贺祖宏丁小琼孙珊方巧军董耀东朱学伟童步升曹现宝郭敏范欣淼汪芹马璐张天虹于亚峰李永新樊建刚崔勇吴佩娜张宏征唐杰郭维维查定军叶放蕾何双八曹卫杨见明钱晓云赵宇孙敬武陈晓巍孙宇夏明王秋菊袁慧军冯永孔维佳杨仕明王海波高下李华伟徐磊柴人杰东南大学数字医学工程全国重点实验室附属中大医院耳鼻咽喉头颈外科生命科学与技术学院生命与健康高等研究院江苏省生物医学高新技术研究重点实验室江苏南京210096 南通大学神经再生联合创新中心江苏南通226001 北京理工大学航天中心医院神经内科生命学院北京10081 南京大学医学院附属鼓楼医院耳鼻喉头颈外科江苏省医学重点学科(实验室)江苏南京210008 中国人民解放军总医院耳鼻咽喉头颈外科医学部北京100853 听觉与平衡觉全国重点实验室北京100853 国家耳鼻咽喉疾病临床医学研究中心北京100853 聋病教育部重点实验室北京100853 聋病防治北京市重点实验室北京100853 复旦大学附属眼耳鼻喉科医院医学神经生物学国家重点实验室教育部脑科学前沿研究中心上海200031 复旦大学生物医学研究所上海200032 国家卫健委听觉医学重点实验室上海200031 复旦大学脑科学研究院和脑科学协同创新中心上海200032 山东大学山东省耳鼻喉医院耳鼻咽喉头颈外科山东济南250022 山东省耳鼻喉研究所山东济南250022 山东第一医科大学/山东省医学科学院医学科技创新中心山东济南250000 武汉大学中南医院耳鼻咽喉头颈外科湖北武汉430071 东南大学附属中大医院耳鼻咽喉头颈外科江苏南京210009 复旦大学附属眼耳鼻喉科医院耳鼻喉科上海200032 安徽医科大学第二附属医院耳鼻咽喉头颈外科安徽合肥230601 中国医科大学附属盛京医院耳鼻咽喉头颈外科辽宁沈阳110004 吉林大学中日联谊医院耳鼻咽喉头颈外科吉林长春130033 安徽医科大学第一附属医院耳鼻咽喉头颈外科安徽合肥230022 云南省第一人民医院耳鼻喉科云南昆明650032 昆明医科大学第一附属医院耳鼻喉科云南昆明650032 中国医学科学院北京协和医学院北京协和医院耳鼻咽喉科北京100730 中南大学湘雅二医院耳鼻咽喉头颈外科湖南长沙410008 南华大学衡阳医学院基础医学院细胞生物学与遗传学教研室细胞应激生物学衡阳市重点实验室湖南衡阳421001 哈尔滨医科大学附属第一医院黑龙江哈尔滨150001 苏州大学附属第一医院耳鼻咽喉科江苏苏州215006 首都医科大学附属北京同仁医院耳鼻咽喉头颈外科北京100730 四川省医学科学院·四川省人民医院/电子科技大学附属医院耳鼻咽喉头颈外科四川成都610072 广东省人民医院耳鼻咽喉头颈外科/广东省医学科学院/南方医科大学广东广州510080 南方医科大学珠江医院耳鼻咽喉头颈外科广东广州510282 空军军医大学西京医院耳鼻咽喉-头颈外科陕西西安710032 郑州大学第一附属医院耳科河南郑州450000 东南大学医学院附属南京同仁医院耳鼻咽喉头颈外科江苏南京211102 四川大学华西医院耳鼻咽喉头颈外科四川成都610041 中国科学技术大学附属第一医院耳鼻咽喉头颈外科安徽合肥230001 华中科技大学同济医学院附属协和医院耳鼻咽喉头颈外科湖北武汉430022 山东第一医科大学附属山东省立医院耳鼻咽喉科山东济南250021 山东省医学科学院医学科技创新中心山东济南250021 山东大学附属山东省立医院耳鼻咽喉科山东济南250021 国家卫生健康委耳鼻咽喉重点实验室山东济南250021 四川大学华西医院罕见病研究院四川成都6010041 南华大学衡阳医学院南华大学附属妇幼保健院湖南长沙410008 中南大学湘雅医院耳鼻咽喉头颈外科湖南长沙410008 上海人工耳蜗工程技术研究中心上海200031 东南大学深圳研究院广东深圳518063

遗传性耳聋是一种常见的遗传性疾病,新生儿的发病率为1.~3‰。患者终身携带致病突变,导致不可逆性耳聋,至今尚无临床可用的治疗药物。在部分遗传性耳聋动物模型中,基因治疗已被证实为潜在有效的治疗方法。国内外已开展了多项遗传性耳... 详细信息

遗传性耳聋是一种常见的遗传性疾病,新生儿的发病率为1.~3‰。患者终身携带致病突变,导致不可逆性耳聋,至今尚无临床可用的治疗药物。在部分遗传性耳聋动物模型中,基因治疗已被证实为潜在有效的治疗方法。国内外已开展了多项遗传性耳聋基因治疗的临床试验。其中,由东南大学附属中大医院牵头,联合国内多家医院成功开展的遗传性耳聋基因治疗临床试验,取得了显著的疗效,并积累了丰富的经验。为规范遗传性耳聋基因治疗并提供临床研究指导,全国多家医院的耳科专家讨论制定了遗传性耳聋基因治疗临床指南,内容涵盖了伦理审查、遗传性耳聋的诊断和入组标准、临床前准备、药物、疗效与安全性评估标准、术后言语康复等。本指南将为耳聋基因治疗的临床诊疗提供规范的理论和技术指导。

关键词：遗传性耳聋基因治疗临床指南

Expression and Characterization of Catalytic Domain of T Cell Protein Tyrosine Phosphatase(ΔTC-PTP)——Immunohistochemical Study of ΔTC-PTP Expression in Non-small Cell Lung Carcinomas

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Chemical Research in Chinese Universities 2007年第3期23卷 289-296页

作者： ZHU zhi-cheng {1. Mei ZHANG Xing-yi {2.U Ke-xiang SHI Dong-lei {2. Jin-dong SU Ji-quan XU Yue-chi FU Xue-qi Department of Cardiovascular Surgery The Second Hospital of Jilin University Changchun 130041 P. R. China Department of Pathology The Second Hospital of Jilin University Changchun 130041 P. R. China Department of Thoracic Surgery The Second Hospital of Jilin University Changchun 130041 P. R. China college of {1.fe {2.s Jilin University Changchun 130023 P. R. China

This study objective was to express and characterize the catalytic domain of the human T cell protein tyrosine phosphatase（△TC-PTP） and to study immunohistochemically the expression of △TC-PTP in human non-small cell lung cancers. △TC-PTP gene was PCR amplified with the cDNA of human TC-PTP as template, and cloned into the pT7 expression vector. The recombinant pT7-△TC-PTP was expressed in E. coli Rosetta （ DE3 ） host cells and puri- fied. The enzymatic characteristics of △TC-PTP including enzyme activity and kinetics assay were measured. The antiserum was prepared by immunizing rabbit with the purified recombinant △TC-PTP. Rabbit polyclonal antibody against △TC-PTP was purified by PVDF immobilized antigen affinity chromatography. Immunohistochemical staining of lung cancer tissues was performed with antibody against △TC-PTP protein. △TC-PTP gene was correctly cloned, expressed, and purified. The recombinant △TC-PTP had a highly catalytic activity of PTPase. Squamous cell lung carcinoma showed a significantly higher expression rate of △TC-PTP （76. 92., 1./1. ） than adenocarcinoma （57.1.%, 4/7） and normal lung tissue（2.%, 1.5 ）. This study represents the first demonstration that △TC-PTP is highly expressed in human squamous cell lung carcinomas. In addition, this study provides an important basis for further studying the biological function of TC-PTP and its relationship with lung carcinomas and other diseases.

关键词： T cell protein tyrosine phosphatase Catalytic domain Characterization Lung cancer

Was Wuhan the early epicenter of the COVID-1. pandemic?——a critique

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National science Review 2023年第4期10卷 19-21页

作者： yanan Cao lingling Chen Hua Chen Yupeng Cun Xiaofeng Dai Hongli Du feng Gao fengbiao Guo yalong Guo Pei Hao Shunmin He Shunping He XiongLei He Zheng Hu Boon-Peng Hoh Xin Jin Qian Jiang Qinghua Jiang Asifullah Khan Hong-zhi Kong Jinchen li Shuai Cheng li ying li Qiang lin Jianquan liu Qi liu Jian Lu Xuemei Lu Shujin Luo Qinghua Nie Zilong Qiu Tieliu Shi Xiaofeng Song Jianzhong Su Sheng-ce Tao Chaolong wang Chuan-Chao wang Guo-Dong wang Jiguang wang Qi Wu Shaoyuan Wu Shuhua Xu Yu Xue wenjun yang Zhaohui yang Kai Ye Yuan-Nong Ye li Yu Fangqing Zhao Yiqiang Zhao Weiwei Zhai Dandan Zhang liye Zhang Houfeng Zheng Qi Zhou Tianqi Zhu ya-ping Zhang Ruijin Hospital Shanghai Jiao Tong University college of {1.fe {2. and technology Guangxi University Beijing Institute of Genomics Chinese Academy of Sciences Children's Hospital of Chongqing Medical university Wuxi School of Medicine Jiangnan University School of Biology and Biological Engineering South China University of Technology Department of Physics School of ScienceTianjin University School of Pharmaceutical sciences Wuhan University Institute of Botany Chinese Academy of Sciences Institut Pasteur of Shanghai Chinese Academy of Sciences Institute of Biophysics Chinese Academy of Sciences Institute of Hydrobiology Chinese Academy of Sciences School of life {1.s Sun Yat-sen University Institute of Synthetic Biology Shenzhen Institute of Advanced TechnologyChinese Academy of Sciences Faculty of Medicine and Health sciences University College Sedaya International School of Medicine South China University of Technology Department of Medical Genetics Capital Institute of Pediatrics School of life {1. and {2. Harbin Institute of Technology Department of Biochemistry Abdul Wali Khan University Xiangya Hospital Central South University Department of computer {1. City University of Hong Kong college of {1.fe {2. and technology Foshan University South China Sea Institute of Oceanology Chinese Academy of Sciences college of Ecology Lanzhou University School of life {1.s and {2. Tongji University School of life {1.s Peking University Kunming Institute of Zoology Chinese Academy of Sciences college of Animal {1. South China Agricultural University Institute of Neuroscience Chinese Academy of Sciences School of life {1.s East China Normal University Nanjing university of Aeronautics and Astronautics wenzhou Institute University of Chinese Academy of Sciences Institute of Systems Biomedicine Shanghai Jiao Tong University Tongji Medical college Huazhong University of Science and Technology School of life {1.s Xiamen University Division of life {1. and Department of

Recently, Worobey et al.(2.2.) published a report entitled ‘The Huanan Seafood Wholesale Market in Wuhan was the early epicenter of the COVID-1. pandemic’ that succinctly summarizes their study [1.. A pre-print version of this study had earlier elicited a series of highprofile media coverages [2.3]. All these reports deliver a social-political message that the Huanan market is the epicenter of COVID-1..

关键词： SARS-COV-2 ORIGIN

Reciprocating Magnetic Fields in the Pulsar Wind Observed from the Black Widow Pulsar J1.2.-0534

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Research in Astronomy and Astrophysics 2023年第10期23卷 255-266页

作者： Chen-Chen Miao Victoria Blackmon Wei-Wei Zhu Dong-Zi li Ming-Yu Ge Xiao-Peng You Maura McLaughlin Di li Na wang Pei wang Jia-Rui Niu M.Cruces Jian-Ping Yuan Jun-Tao Bai D.J.Champion Yu-Tong Chen Ming-Min Chi P.C.C.Freire Yi feng Zhen-Ye Gan M.Kramer Fei-Fei Kou Yu-Xi li Xue-li Miao ling-Qi Meng Chen-hui Niu Sheng-Nan sun Zhong-Yi sun H.M.Tedila Shuang-Qiang wang Qing-Dong Wu Jing-Bo wang zhi-Gang wen Shen wang ya-Biao wang Cheng-Jie wang Meng-yao Xue You-ling Yue Mao Yuan Ju-Mei yao wen-Ming yan Ru-Shuang Zhao Lei Zhang De Zhao National Astronomical Observatories Chinese Academy of SciencesBeijing 100101China School of Astronomy and Space science University of Chinese Academy of SciencesBeijing 100049China West Virginia university 1500 University AveMorgantownWV 26506USA Institute for Frontiers in Astronomy and Astrophysics Beijing Normal UniversityBeijing 102206China Cahill Center for Astronomy and Astrophysics California Institute of Technology1216 E California BoulevardPasadenaCA 91125USA Key Laboratory of Particle Astrophysics Institute of High Energy PhysicsChinese Academy of SciencesBeijing 100049China School of Physical science and {1. Southwest UniversityChongqing 400715China Research Center for Intelligent Computing Platforms Zhejiang LaboratoryHangzhou 311100China Xinjiang Astronomical Observatory Chinese Academy of SciencesUrumqi 830011China Max-Planck Institut für Radioastronomie Auf dem Hügel 69D-53121 BonnGermany School of computer {1. Fudan UniversityShanghai 200433China Tencent Youtu Lab Shanghai 200233China college of Physical {1. and {2. Central China Normal UniversityWuhan 430079China Institute of Optoelectronic technology Lishui UniversityLishui 323000China Guizhou Normal university Guiyang 550001China

We report the radio observations of the eclipsing black widow pulsar J1.2.-0534, a 3.2. ms pulsar in orbit with a low mass companion of mass 0.02. to 0.034 M⊙. We obtain the phase-connected timing ephemeris and polarization profile of this millisecond pulsar(MSP) using the Five-hundred-meter Aperture Spherical radio Telescope(FAST), the Green Bank Telescope(GBT), and the Parkes Telescope. For the first time from such a system, an oscillatory polarization angle change was observed from a particular eclipse egress with partial depolarization, indicating 1.-milliGauss-level reciprocating magnetic fields oscillating in a length scale of 5 ×1.^(3)km(assuming an orbital inclination angle of 90°) outside the companion's magnetosphere. The dispersion measure variation observed during the ingresses and egresses shows the rapid raising of the electron density in the shock boundary between the companion's magnetosphere and the surrounding pulsar wind. We suggest that the observed oscillatory magnetic fields originate from the pulsar wind outside the companion's magnetosphere.

关键词： (stars:)pulsars:general (stars:)pulsars:individual(J1.2.-0534) (stars:)binaries:eclipsing

天冬氨酸降解人参二醇组皂苷及其美拉德反应产物的抗氧化活性

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食品科学 2018年第7期39卷 20-26页

作者：刘志夏娟李伟张晶孙光芝阮长春吉林农业大学农业现代化综合技术研究所吉林长春130118 吉林农业大学中药材学院吉林长春130118

以天冬氨酸为催化剂,在高温蒸煮条件下,研究了天冬氨酸对人参二醇组皂苷的降解和美拉德反应的影响以及美拉德反应产物的抗氧化活性。结果表明:天冬氨酸能使人参二醇组皂苷降解成稀有皂苷2.S-Rg3、2.R-Rg3、Rk1.Rg5,其转化途径为人参二... 详细信息

以天冬氨酸为催化剂,在高温蒸煮条件下,研究了天冬氨酸对人参二醇组皂苷的降解和美拉德反应的影响以及美拉德反应产物的抗氧化活性。结果表明:天冬氨酸能使人参二醇组皂苷降解成稀有皂苷2.S-Rg3、2.R-Rg3、Rk1.Rg5,其转化途径为人参二醇组皂苷→2.S-Rg3/2.R-Rg3→Rk1.Rg5。人参皂苷2.R-Rg3和Rg5的质量浓度随着温度的升高而升高,2.S-Rg3和Rk1.质量浓度随着温度的升高而降低。抗氧化实验结果表明:随着蒸煮温度的升高,天冬氨酸与人参二醇组皂苷反应产物对1.1.二苯基-2.三硝基苯肼自由基的清除作用明显增强(P1.,其抗氧化作用的主要物质为天冬氨酸与人参皂苷上水解产生的糖发生反应生成的美拉德反应产物。本研究对开发绿色环保型人参稀有皂苷保健食品具有参考价值和意义。

关键词：天冬氨酸人参二醇组皂苷稀有人参皂苷抗氧化活性美拉德反应

非线性拟合方法用于透射式脉冲红外技术测试碳/碳复合材料的热扩散系数

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物理学报 2017年第18期66卷 268-275页

作者：李晓丽 sun Jian-Gang 陶宁曾智赵跃进沈京玲张存林北京理工大学光电学院精密光电测试仪器及技术北京市重点实验室北京100081 Nuclear Engineering Division Argonne National Laboratoryil60439 首都师范大学物理系太赫兹光电子学教育部重点实验室北京市太赫兹波谱与成像重点实验室北京成像技术高精尖中心北京100048 重庆师范大学计算机与信息科学学院机器人与智能装备工程研究中心重庆400047

为了测试碳/碳复合材料的热扩散系数,本文提出了非线性拟合用于透射式脉冲红外检测的数据处理方法.非线性拟合通过循环迭代的方法持续调整拟合参数,让理论值不断逼近实验值,直至获得最佳结果.传统的透射式脉冲红外成像技术利用半高时间... 详细信息

为了测试碳/碳复合材料的热扩散系数,本文提出了非线性拟合用于透射式脉冲红外检测的数据处理方法.非线性拟合通过循环迭代的方法持续调整拟合参数,让理论值不断逼近实验值,直至获得最佳结果.传统的透射式脉冲红外成像技术利用半高时间法测试材料的热扩散系数,但通常会受到采集时间不足和信噪比差的限制.本文提出的非线性拟合方法可以有效消除或减弱这两种影响.在使用该方法之前,首先选用常见的304不锈钢评估了该方法的测量精度及拟合长度对测试结果的影响.结果显示304不锈钢的测量精度达到0.3%,且当拟合长度不小于半高时间法采集时间的1.5时,拟合长度对非线性拟合结果影响很小.随后使用该拟合方法测试了不同厚度的碳/碳复合材料试件,并通过热扩散系数测量结果分析了试件之间的热参数差异性和材料自身的均匀性.

关键词：非线性拟合透射式脉冲红外检测碳/碳复合材料热扩散系数

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新的无线传感器网络覆盖控制算法

通信学报 2011年第10期32卷 174-184页

作者：韩志杰吴志斌王汝传孙力娟肖甫中国科技大学计算机科学技术学院安徽合肥230026 晨星软件研发(深圳)有限公司广东深圳518057 南京邮电大学计算机学院江苏南京210003

首先,设计了节点自适应传感半径调整算法(AASR,adaptive adjustment of sensing radius),通过节点自适应选择最佳的覆盖范围,有效地进行节点覆盖控制,减少节点能量虚耗,提高覆盖效率。其次,从调整效果、能量消耗和覆盖冗余度3个方面对... 详细信息

首先,设计了节点自适应传感半径调整算法(AASR,adaptive adjustment of sensing radius),通过节点自适应选择最佳的覆盖范围,有效地进行节点覆盖控制,减少节点能量虚耗,提高覆盖效率。其次,从调整效果、能量消耗和覆盖冗余度3个方面对节点自适应传感半径调整算法进行了模拟实验和分析。仿真结果表明,AASR能够有效提高节点生存时间,减少能量消耗,提高覆盖率。

关键词： WSN 覆盖控制拓扑控制半径调整

登革病毒SYBR Green Ⅰ real-time PCR方法的建立及应用

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中国兽医科学 2020年第11期50卷 1353-1359页

作者：汪伟于宁刘宇梦李成辉韩知晓杜倩孙文超鲁会军金宁一广西大学动物科学技术学院广西南宁530001 军事科学院军事兽医研究所吉林长春130122 延边大学农学院吉林延吉133000 温州大学病毒研究所浙江温州325035

为建立灵敏、高效的登革病毒检测方法,本试验拟以包含登革病毒3′端保守序列的质粒pUC57-DENV为模板,建立检测DENV的荧光定量PCR方法。结果显示,该检测方法在4.88×1.^1.4.88×1.^9copies/μL范围内呈良好的线性关系,相关系数为0.999,... 详细信息

为建立灵敏、高效的登革病毒检测方法,本试验拟以包含登革病毒3′端保守序列的质粒pUC57-DENV为模板,建立检测DENV的荧光定量PCR方法。结果显示,该检测方法在4.88×1.^1.4.88×1.^9copies/μL范围内呈良好的线性关系,相关系数为0.999,斜率为-3.653。最低检测限度为4.88 copies/μL,对照组未出现特异性扩增,所有稀释度的标准品在80.2.℃出现特异性熔解峰。组内和组间试验的变异系数均小于1.。本试验建立的SYBR Green Ⅰ荧光定量PCR方法,可为登革病毒早期检测提供技术支持。

关键词：登革病毒 SYBR GreenⅠreal-time PCR 检测方法

Diagnosis and Treatment of Acne Inversa/Hidradenitis Suppurativa in China: An Expert Consensus Statement (2.2.0}Version)

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International Journal of Dermatology and Venereology 2021年第2期4卷 100-108页

作者： Hong Fang Xing-Hua Gao Song-Mei Geng Heng Gu Jun Gu li He Xian Jiang Hong-Zhong Jin Qiang Ju Xiao-Jing Kang Wei Lai Cheng-Xin li Hang li Heng-Jin li Shan-Shan li Yu-Zhen li Qing sun Juan Tao Baoxi wang Gang wang Xin-feng Wu Lei-Hong Xiang Hong-Fu Xie Hao-Xiang Xu Jin-Hua Xu yan yan {12.-Zhong Zheng Department of Dermatology The First Affiliated Hospital of Zhejiang UniversityHangzhouZhejiang 310003China Department of Dermatology No.1 Hospital of China Medical UniversityShenyangLiaoning 110001China Department of Dermatology The Second Affiliated Hospital of Xi’an Jiaotong UniversityXi’anShaanxi 710061China Hospital for Skin Diseases(Institute of Dermatology) Chinese Academy of Medical Sciences and Peking Union Medical CollegeNanjingJiangsu 210042China Department of Dermatology Shanghai Tenth People’s HospitalTongji University School of MedicineShanghai 200072China Department of Dermatology First Affiliated Hospital of Kunming Medical UniversityKunmingYunnan 650032China Department of Dermatology West China HospitalSichuan UniversityChengduSichuan 610041China Department of Dermatology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China Department of Dermatology Renji HospitalSchool of MedicineShanghai Jiaotong UniversityShanghai 200025China Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqiXinjiang 830001China Department of Dermatology and Venereology The Third Affiliated HospitalSun Yat-sen UniversityGuangzhouGuangdong 510630China Department of Dermatology First Medical Center of Chinese PLA General HospitalBeijing 100853China Department of Dermatology and Venerology Peking University First HospitalBeijing 100034China Department of Dermatology Hainan Hospital of PLA General HospitalSanyaHainan 572013China Department of Dermatology and Venereology The First Hospital of Jilin UniversityChangchunJilin 130021China Department of Dermatology Second Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjiang 150086China Department of Dermatology Qilu Hospital of Shandong UniversityJinanShandong 250012China Department of Dermatology Affiliated Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei 430022China De

Acne inversa/hidradenitis suppurativa is a chronic,recurrent,inflammatory skin disease that affects the pilosebaceous units,causinfollicular *** etiology and pathogenesis of acne inversa/hidradenitis suppurativa involves internal and external factors such as genetic susceptibility,inflammation and immunity,microorganisms,obesity,and *** inversa/hidradenitis suppurativa is difficult to treat,and the current aim of treatment is to control the frequency and duration of disease flares and improve the quality of *** protocols for acne inversa/hidradenitis suppurativa should be selected based on the disease severity *** treatments include antibiotics,retinoids,biologics,immunosuppressive agents,and antiandrogen *** treatments include surgery and laser/light *** consensus aims to further standardize the diagnosis and treatment procedures of acne inversa/hidradenitis suppurativa in China to facilitate its diagnosis and treatment.

关键词： acne inversa consensus diagnosis hidradenitis suppurativa therapy