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chinese consensus on the diagnosis and treatment of immunoglobulin light-chain cardiac amyloidosis

chinese Medical Journal 2024年第2期137卷 127-129页

作者： Kaini Shen Zhuang Tian Yajuan Gao Yining Wang Li Huo Jian Li Yun Zhang Shuyang Zhang on behalf of chinese society of rare diseases and rare diseases branch of china research hospital association Department of Hematology State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Cardiology State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Clinical Medicine Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Radiology State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Nuclear Medicine Beijing Key Laboratory of Molecular Targeted Diagnosis and Therapy in Nuclear MedicineState Key Laboratory of Complex Severe and Rare DiseasesCenter for Rare Diseases ResearchPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Cardiology The Key Laboratory of Cardiovascular Remodeling and Function ResearchChinese Ministry of EducationChinese National Health Commission and Chinese Academy of Medical SciencesThe State and Shandong Province Joint Key Laboratory of Translational Cardiovascular MedicineQilu HospitalCheeloo College of MedicineShandong UniversityJinanShandong 250012China Cardiovascular Disease research Center of Shandong First Medical University Central Hospital Affiliated to Shandong First Medical UniversityJinanShandong 250013China 不详

Epidemiology of Amyloid Light-Chain Cardiac Amyloidosis(AL-CA)The annual incidence of amyloid light-chain(AL)amyloidosis is 3-5/million,and the incidence in men is slightly higher than that in ***,70%of patients with ... 详细信息

关键词： amyloid cardiac diagnosis

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2023 Guideline for the management of hypertension in the elderly population in china

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Journal of Geriatric Cardiology 2024年第6期21卷 589-630页

作者： Hypertension branch of chinese Geriatrics society,Beijing Hypertension association,National Clinical research Center of the Geriatric diseases Qi HUA Li FAN Zeng-Wu WANG Jing LI 不详 Xuanwu hospital Capital Medical UniversityBeijingChina chinese PLA General hospital BeijingChina Fuwai hospital Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

Preamble Hypertension is one of the most common chronic diseases and the primary risk factor for stroke,myocardial infarction and even cardiovascular *** than half of the elderly population has high blood *** people are a unique group,and strategies for the prevention,diagnosis,evaluation,and treatment of hypertension in elderly individuals differ significantly from those in the general population.

关键词： hypertension prevention diagnosis

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Expert Consensus on the Prevention and Treatment of Chronic Hepatitis B in Children

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Infectious diseases & Immunity 2024年第3期4卷 106-120页

作者： chinese society of Infectious diseases chinese Medical association chinese society of Hepatology chinese Medical association Group of Infectious diseases chinese Pediatric society chinese Medical association National Clinical research Center for Infectious diseases(Beijing) Fu-Sheng Wang Shishu Zhu Min Zhang Jianshe Wang Shuangjie Li Junliang Fu Yuanyuan Li Yuming Guo Jing Li Hongmei Xu Wenxian Ouyang Yuemin Nan Sainan Shu Shuangsuo Dang Xiaoyuan Xu Taisheng Li Jinlin Hou 不详 The Fifth Medical Center of PLA General hospital Beijing 100039China Fudan University Children’s hospital Hunan Children’s hospital Children’s hospital of Chongqing Medical University Third hospital Hebei Medical University Tongji hospital Tongji Medical CollegeHuazhong University of Science and Technology The Second Affiliated hospital of Xi’an Jiaotong University Peking University First hospital Peking Union Medical College hospital Chinese Academy of Medical Sciences&Peking Union Medical College Nanfang hospital Southern Medical University

The aim of this consensus is to standardize the prevention, diagnosis, and treatment of chronic hepatitis B in children and to achieve the goal of “eliminating viral hepatitis as a major public health threat by 2030” issued by the World Health Organization. Formulated by organized experts of the chinese society of Infectious diseases and chinese society of Hepatology, chinese Medical association;Group of Infectious diseases, chinese Pediatric society, chinese Medical association;and the National Clinical research Center for Infectious diseases (Beijing), the consensus provides the latest evidence and recommendations for the prevention, diagnosis, and treatment of chronic hepatitis B in children.

关键词： Chronic hepatitis B Children Treatment Prevention Consensus

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chinese national clinical practice guidelines on prevention, diagnosis and treatment of early colorectal cancer

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中华医学杂志(英文版) 2024年第17期137卷 2017-2039页

作者： Li Jingnan Yao Hongwei Lu Yun Zhang Shutian Zhang Zhongtao society of Digestive Endoscopy of the chinese Medical association Colorectal Surgery Group of the chinese Medical association chinese association of Gastroenterologist & Hepatologist National Clinical research Center for Digestive diseases chinese Medical Journal Clinical Practie Guideline Collaborative Department of Gastroenterology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Peking Union Medical College Beijing China Department of General Surgery Beijing Friendship Hospital Capital Medical University National Clinical Research Center for Digestive Diseases Beijing China Department of General Surgery The Affiliated Hospital of Qingdao University Qingdao Shandong China Department of Gastroenterology Beijing Friendship Hospital Capital Medical University National Clinical Research Center for Digestive Disease Beijing China

Background: The incidence and mortality of colorectal cancer (CRC) in china are increasing in recent years. The clarified pathogenesis and detectable precancerous lesions of CRC make it possible to prevent, screen, and diagnose CRC at an early stage. With the development of endoscopic and surgical techniques, the choice of treatment for early CRC is also worth further discussion, and accordingly, a standard follow-up program after treatment needs to be ***: This clinical practice guideline (CPG) was developed following the recommended process of the World Health Organization, adopting Grading of Recommendations Assessment, Development and Evaluation (GRADE) in assessing evidence quality, and using the Evidence to Decision framework to formulate clinical recommendations, thereby minimizing bias and increasing transparency of the CPG development process. We used the Reporting Items for practice Guidelines in HealThcare (RIGHT) statement and Appraisal of Guidelines for research and Evaluation II (AGREE II) as reporting and conduct guides to ensure the guideline’s completeness and ***: This CPG comprises 46 recommendations concerning prevention, screening, diagnosis, treatment, and surveillance of CRC. In these recommendations, we have indicated protective and risk factors for CRC and made recommendations for chemoprevention. We proposed a suitable screening program for CRC based on the chinese context. We also provided normative statements for the diagnosis, treatment, and surveillance of CRC based on existing clinical evidence and ***: The 46 recommendations in this CPG are formed with consideration for stakeholders’ values and preferences, feasibility, and acceptability. Recommendations are generalizable to resource-limited settings with similar CRC epidemiology pattern as china.

关键词： Colorectal cancer Early detection of cancer Prevention Screening Diagnosis Treatment Follow-up Guideline

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chinese national clinical practice guidelines on the prevention,diagnosis,and treatment of early gastric cancer

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chinese Medical Journal 2024年第8期137卷 887-908页

作者： Peng Li Ziyu Li Enqiang Linghu Jiafu Ji society of Digestive Endoscopy of the chinese Medical association Colorectal Surgery Group of the chinese Medical association chinese association of Gastroenterologists&Hepatologists National Clinical research Center for Digestive diseases chinese Medical Journal Clinical Practice Guideline Collaborative Department of Gastroenterology Beijing Friendship HospitalCapital Medical UniversityNational Clinical Research Center for Digestive DiseaseBeijing 100050China Department of Gastrointestinal Surgery Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education)Peking University Cancer Hospital and InstituteBeijing 100142China Department of Gastroenterology and Hepatology the First Medical CenterChinese People’s Liberation Army General HospitalBeijing 100853China 不详

Background:Gastric cancer is one of the most common malignant tumors in the digestive system in *** comprehensive practice guidelines for early gastric cancer in china are currently ***,we created the chinese national clinical practice guideline for the prevention,diagnosis,and treatment of early gastric ***:This clinical practice guideline(CPG)was developed in accordance with the World Health Organization’s recommended process and with the Grading of Recommendations Assessment,Development,and Evaluation(GRADE)in assessing evidence *** used the Evidence to Decision framework to formulate clinical recommendations to minimize bias and increase transparency in the CPG development *** used the Reporting Items for practice Guidelines in HealThcare(RIGHT)statement and the Appraisal of Guidelines for research and Evaluation II(AGREE II)as reporting and conduct guidelines to ensure completeness and transparency of the ***:This CPG contains 40 recommendations regarding the prevention,screening,diagnosis,treatment,and follow-up of early gastric cancer based on available clinical studies and *** provide recommendations for the timing of Helicobacter pylori eradication,screening populations for early gastric cancer,indications for endoscopic resection and surgical gastrectomy,follow-up interval after treatment,and other ***:This CPG can lead to optimum care for patients and populations by providing up-to-date medical *** intend this CPG for widespread adoption to increase the standard of prevention,screening,diagnosis,treatment,and follow-up of early gastric cancer;thereby,contributing to improving national health care and patient quality of life.

关键词： Early gastric cancer Prevention Screening Diagnosis Treatment Follow-up

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抗肌萎缩蛋白病中国诊断指南

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中华医学杂志 2024年第11期104卷 822-833页

作者：中华医学会罕见病分会北京医学会罕见病分会熊晖袁云谢志颖不详北京大学第一医院儿科北京100034 北京大学第一医院神经内科北京100034

抗肌萎缩蛋白病是由编码抗肌萎缩蛋白的DMD基因致病性变异所导致的一组主要累及骨骼肌和(或)心肌的X-连锁隐性遗传性肌病,包括Duchenne型肌营养不良、Becker型肌营养不良以及X-连锁扩张型心肌病。DMD基因致病性变异广泛而复杂,导致部分... 详细信息

抗肌萎缩蛋白病是由编码抗肌萎缩蛋白的DMD基因致病性变异所导致的一组主要累及骨骼肌和(或)心肌的X-连锁隐性遗传性肌病,包括Duchenne型肌营养不良、Becker型肌营养不良以及X-连锁扩张型心肌病。DMD基因致病性变异广泛而复杂,导致部分患者的诊断和临床分型复杂而困难。精准的分子遗传学诊断对于抗肌萎缩蛋白病的临床诊治、多学科管理、遗传咨询、产前诊断和基因治疗的选择具有重要意义。本指南基于抗肌萎缩病的研究进展,借鉴国内外抗肌萎缩蛋白病的指南共识,在抗肌萎缩蛋白病的临床表现、遗传学基础、诊断及临床分型、遗传学诊断流程以及临床遗传咨询方面达成共识,提出18条推荐意见。本指南旨在规范和优化抗肌萎缩蛋白病的诊断,为临床医师和政府管理人员的工作提供参考,共同降低抗肌萎缩蛋白病患者的诊断难度。

关键词：肌营养不良抗肌萎缩蛋白诊断指南

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中国常染色体显性遗传视神经萎缩诊疗专家共识(2024年)

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中华眼科杂志 2024年第3期60卷 226-233页

作者：中国罕见病联盟/北京罕见病诊疗与保障学会眼科分会中华医学会眼科学分会神经眼科学组魏文斌魏世辉不详首都医科大学附属北京同仁医院北京同仁眼科中心、北京市眼科研究所、北京市眼科学与视觉科学重点实验室北京100730 解放军总医院眼科医学部北京100853

常染色体显性遗传视神经萎缩(ADOA)主要累及视网膜神经节细胞及其轴突,表现为开始于儿童时期的不同程度双眼中心视力下降。鉴于ADOA在临床工作中非常罕见,目前我国眼科医师对该病的认知不足,出现诊断流程不规范以及临床诊断及基因诊断... 详细信息

常染色体显性遗传视神经萎缩(ADOA)主要累及视网膜神经节细胞及其轴突,表现为开始于儿童时期的不同程度双眼中心视力下降。鉴于ADOA在临床工作中非常罕见,目前我国眼科医师对该病的认知不足,出现诊断流程不规范以及临床诊断及基因诊断误诊率高等问题。中国罕见病联盟/北京罕见病诊疗与保障学会眼科分会联合中华医学会眼科学分会神经眼科学组,组织国内相关专家,经过多轮背对背提出意见和充分讨论,历时1年,针对ADOA的诊断和治疗达成共识性意见,旨在为临床正确开展工作和研究提供指导和参考,提升我国ADOA的诊疗水平。

关键词：视神经萎缩,常染色体显性诊疗准则(主题)

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中国天疱疮诊疗指南(2024版)

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中华皮肤科杂志 2024年第10期57卷 873-886页

作者：中国医师协会皮肤科医师分会中华医学会皮肤性病学分会治疗学组中国医疗保健国际交流促进会皮肤医学分会国家皮肤与免疫疾病临床医学研究中心中国罕见病联盟皮肤罕见病专业委员会晋红中王刚张翰林左亚刚不详中国医学科学院北京协和医院皮肤科空军军医大学西京皮肤医院

天疱疮是一组少见而严重的自身免疫性大疱性疾病,以皮肤和/或黏膜的水疱、大疱、糜烂为主要临床表现。随着对天疱疮认识的不断深入和治疗手段的不断更新,有必要制订中国天疱疮诊疗指南。由相关学术组织组建的指南工作组,基于国内外现有... 详细信息

天疱疮是一组少见而严重的自身免疫性大疱性疾病,以皮肤和/或黏膜的水疱、大疱、糜烂为主要临床表现。随着对天疱疮认识的不断深入和治疗手段的不断更新,有必要制订中国天疱疮诊疗指南。由相关学术组织组建的指南工作组,基于国内外现有证据,结合我国国情,经过多轮论证与遴选,形成了关于天疱疮诊断和治疗的12个亟待解决的临床问题和30条推荐意见,为天疱疮的诊断和治疗提供参考,指导临床实践。

关键词：天疱疮诊断治疗糖皮质激素利妥昔单抗免疫抑制剂指南

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新型冠状病毒感染影像学诊断标准

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武汉大学学报(医学版) 2024年第10期45卷 1151-1158+1182页

作者：廖美焱刘军刘晋新张寒菲赵伟林琳胡天丽中华医学会放射学分会传染病学组中国研究型医院学会感染与炎症放射专业委员会中国医院协会传染病分会传染病影像学组北京影像诊疗技术创新联盟武汉大学中南医院中南大学湘雅二医院广州医科大学附属市八医院

新型冠状病毒感染（COVID-19）目前为全球性重大的公共卫生事件，诊断需有病原学或血清学证据，疫苗接种者和儿童COVID-19症状轻。影像评估是COVID-19临床诊断、鉴别诊断、疗效监测和预后随访的主要和常用手段，资源有限时影像学检查适... 详细信息

新型冠状病毒感染（COVID-19）目前为全球性重大的公共卫生事件，诊断需有病原学或血清学证据，疫苗接种者和儿童COVID-19症状轻。影像评估是COVID-19临床诊断、鉴别诊断、疗效监测和预后随访的主要和常用手段，资源有限时影像学检查适用于中重度临床特征COVID-19疑似和高概率患者的医学分诊。推荐高分辨率CT评估COVID-19肺损伤及随访，重症患者使用便携式数字X线检查，孕妇和儿童可使用MRI检查评估疗效，COVID-19人工智能诊断可用于发热患者早期筛查。典型COVID-19影像学演变分为早期、进展期、重症期、恢复期四个阶段，早期为胸膜下局限分布的斑片状、亚段或节段性磨玻璃样影（GGO）；进展期病灶范围增大、增多，累及多个肺叶；重症期双肺弥漫性实变或GGO，呈“白肺”表现；恢复期病变吸收。大部分非重患者病变可完全吸收。部分患者出现COVID-19后综合征，3个月后肺部见低密度区，GGO伴马赛克征、条索影、网状或蜂窝样改变、支气管扩张、肺气囊、肺纤维化等表现。临床中型以GGO病变为主，重型/危重型GGO范围增大、实变增多，双肺多叶受累多见。COVID-19肺炎需与其他病毒引起的肺炎、严重急性呼吸综合征、隐源性机化性肺炎、过敏性肺炎等鉴别。

关键词：新型冠状病毒 COVID-19 肺炎呼吸道疾病影像诊断标准

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阿拉杰里综合征相关肝病诊治共识(2024)

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中华儿科杂志 2024年第8期62卷 706-714页

作者：中国罕见病联盟遗传性肝病分会中华医学会儿科学分会感染学组中华儿科杂志编辑委员会王建设不详复旦大学附属儿科医院感染传染科上海201102

阿拉杰里综合征是儿科胆汁淤积性肝病的重要遗传病因,也是伴有多系统受累的最常见的胆汁淤积症病因。因为相对罕见,且临床表现多变,造成误诊和漏诊相当常见,进而延误治疗。为改进对阿拉杰里综合征相关肝病的管理,中国罕见病联盟遗传性... 详细信息

阿拉杰里综合征是儿科胆汁淤积性肝病的重要遗传病因,也是伴有多系统受累的最常见的胆汁淤积症病因。因为相对罕见,且临床表现多变,造成误诊和漏诊相当常见,进而延误治疗。为改进对阿拉杰里综合征相关肝病的管理,中国罕见病联盟遗传性肝病分会等组织了儿科肝病相关专家经过证据筛查和反复讨论共同制订了"阿拉杰里综合征相关肝病诊治共识(2024)",旨在更好地指导临床实践,帮助儿科医生尽早识别该病,并通过科学管理以改善患儿预后。

关键词：儿科医生胆汁淤积症罕见病胆汁淤积性肝病临床实践诊治共识延误治疗科学管理

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