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北京协和医院罕见病临床思维与多学科诊疗方案集(2023年版)
$93.02
2023年版沿用2021年版的主体风格,并继续完善和提升,全部病例更新,专家分析提升深度。本书是中国聚焦于罕见病诊疗和多学科会诊的病例集,依托北京协和医院罕见病团队和疑难病会诊中心的资源,汇集北京协和医院各个科室的智慧,突出病种齐全,病例资料完整,特别细化专家对多学科会诊的价值和思路的分析。本版共计42个经典病例,涵盖罕见病更多的种类,增加不同学科专家分析,为罕见病患者提供从诊断到治疗的全方位服务,书籍的出版也更加有利于全国各大...
2023年版沿用2021年版的主体风格,并继续完善和提升,全部病例更新,专家分析提升深度。本书是中国聚焦于罕见病诊疗和多学科会诊的病例集,依托北京协和医院罕见病团队和疑难病会诊中心的资源,汇集北京协和医院各个科室的智慧,突出病种齐全,病例资料完整,特别细化专家对多学科会诊的价值和思路的分析。本版共计42个经典病例,涵盖罕见病更多的种类,增加不同学科专家分析,为罕见病患者提供从诊断到治疗的全方位服务,书籍的出版也更加有利于全国各大中小医院,进一步提高罕见病的诊疗水平,为罕见病患者谋求福音。
心内科主任医师、教授、博士生导师。北京协和医院院长。国家重点研发计划"罕见病临床队列研究"项目负责人,中国研究型医院学会罕见病分会会长,国家卫生健康委员会罕见病诊疗与保障专家委员会副主任委员兼任办公室主任。中华医学会常务理事,内科学分会副主委,临床药学分会副主委,北京医学会临床药学分会主委,心血管病学分会副主委。
从抗体检测到免疫组库分析——一例慢性脑膜炎的确诊/ 1
范思远 关鸿志
家族性慢性脑膜炎?原来是转甲状腺素蛋白淀粉样变性/ 9
范思远关鸿志
IGHMBP2 基因缺陷致遗传性运动感觉周围神经病/ 16
赵心悦戴毅
与时间赛跑的生命接力 /24
杨辰韩冰
两难的抉择/ 31
“意外”的肺结节/ 39
张路李剑
咯血的噩梦 /46
沈恺妮李剑
“环环相扣”,罕见的罕见病/ 52
张妙颜张路
顽固而反复的肺部感染 /59
张腾越田欣伦
“腹泻人生”的偶然与必然/ 66
郑威扬李景南
有遗传背景的回肠溃疡/ 82
柏小寅杨红
隐藏在常见病表象下的罕见病 /91
刘长宜宋知行赖雅敏
“长不大”的烦恼 /99
王林杰朱惠娟
青少年高血压- 双侧肾上腺占位- 胰腺多发占位- 视网膜病变 /107
段炼童安莉
“长不高”的女孩 /119
周智博陈适
引起全身多发肿瘤的“幕后黑手”/ 127
赵宇星朱惠娟
当IgG4 相关疾病遇上外源性胰岛素自身免疫综合征/ 140
彭琳一张文
弥漫皮肤变硬 /149
彭琳一侯勇张文
是谁在模拟 /157
周爽钟慧张文
一元论的困境/ 165
吴迪张文
包裹肾脏的“毛衣”/ 172
乐偲陈丽萌
无尿,突盲,意识障碍/ 180
致命的细胞/ 187
张冰清曾学军
右腋下包块及胸壁皮肤变硬- 胸腔积液- 脾多发结节- 骨质病变/ 198
徐娜曾学军
变形的手脚 /211
张冰清徐娜曾学军
扑朔迷离的反复晕厥/ 224
被误诊的“荨麻疹”/ 232
王雪支玉香
罕见炎性肌病的不典型表现 /241
张宁康琳
谁是“凶手”/ 252
邢浩王月坤杨蕙钰石易鑫王裕
与生俱来的“海神”样改变 /260
黄盈棹吴南
16 岁心力衰竭的男孩/ 265
黄盈棹吴南仉建国
脊柱侧凸又心痛的男孩/ 270
四肢肿大的男孩 /278
劳累后的血尿 /284
丁娟马明圣
胸骨后疼痛的少年/ 290
唐晓艳陈昉园李正红
令医生“头痛”的头痛少女/ 299
钟林庆宋红梅
多发牛奶咖啡斑原因待查 /306
马明圣邱正庆
不能改变基因,能否改变命运 /315
1 个月,皮肤红疹竟成肿瘤 /322
王涛晋红中
阿喀琉斯之踵——反复足部溃疡的真相 /327
高祎濛晋红中
“红皮病”背后的真相 /335
吴超于晨旸高祎濛晋红中
殊因同源? /343
朱田张婷田欣伦睢瑞芳
罕见遗传性结缔组织病的综合诊疗/ 357
李融融陈伟王珞田欣伦
生而不同,永不放弃党的二十大报告强调“把保障人民健康放在优先发展的战略位置”。人民健康是实现中国式现代化的应有之义。自党的十八大以来,党和国家全面布局罕见病诊疗和研究,高度重视罕见病用药保障和重大疾病防控工作,实现了一系列零的突破。2018 年,具有里程碑意义的《中国第一批罕见病目录》正式发布。2019 年,国家卫生健康委员会成立全国罕见病诊疗协作网,罕见病三级防控体系基本形成。作为全国罕见病诊疗协作网中唯一的国家级牵头医院,北京协和医院充分依托诊疗协作网,通过采取“一站式”救治方案,努力破解罕见病诊疗难问题。自2019 年2 月协和罕见病多学科诊疗平台建立以来,4 年里的每个周四中午,在门诊楼的疑难病会诊中心,多名医学专家集聚于此,通过罕见病多学科会诊,争取最大限度减少患者误诊误治,缩短等待时间,增加治疗方案的可选择性,避免了不停转诊、重复检查给患者家庭带来的负担,让罕见病患者有希望。这是对协和百年多学科协作优良传统的传承弘扬,更是协和在新征程中坚守初心、勇担使命的生动的医疗实践。为解决罕见病识别诊断能力不足的问题,破解“能看罕见病的医生比罕见病患者更罕见”难题,协和将罕见病多学科会诊向协作网医院同时开放,通过开展远程会诊等形式,为全国广大医生提供学术交流、临床合作平台,助力医生综合能力提升,特别是青年医师培养。我们欣喜地看到,截至目前,通过协作网转诊的患者已超千例,罕见病确诊时间也从4 年缩短到4 周,这不仅为罕见病患者点燃了生的希望,也让我们每一名参与罕见病诊疗救治的医生汲取了奋进力量。为更好地发挥优质医疗资源的辐射引领作用,协和通过联合全国各领域专家,积极编写目录释义,出标准、出指南、出教材,推动罕见病诊疗能力大幅提升。通过开发“中国罕见病诊疗服务信息系统”,创立“中国国家罕见病注册系统”,建成了国际最大的罕见病资源库,为百余项罕见病临床研究开展提供了重要基础支撑。通过积极筹建国家罕见病专业质控中心等,协和始终秉承“人民至上、生命至上”理念,在不断开拓罕见病用药可及性、探索多层次医疗保障体系的道路上逢山开路,遇水架桥,努力破解罕见病治疗难问题。功在当代,利在千秋,面向未来,在国家的支持下,协和将依托疑难重症及罕见病国家重点实验室、转化医学国家重大科技基础设施,积极搭建和探索一条从基础、临床到转化的协和罕见病研究模式,坚定不移地沿着倾力擘画的罕见病诊疗蓝图实干笃行。回首过去3 年极不平凡的抗疫防疫历程,协和罕见病团队在统筹做好疫情防控与医疗救治工作的同时,克服重重困难,秉持着“患者不能等,医院不能停”“不论在任何困境下,都要发出协和声音”的坚定信念,努力收集整理具有代表性的罕见病病例,以期为临床医师提供更多一手的临床资料。2021 年,由协和近百位专家参与编写的《北京协和医院罕见病多学科合作诊疗病例集(2021 年版)》正式出版,为基层医院医生罕见病诊疗能力的提升提供了案例参考。今年,在延续2021 年版内容结构的基础上,包含了43 例罕见病病例,凝聚了来自14 个学科百余位罕见病专家共同智慧的《北京协和医院罕见病临床思维与多学科诊疗方案集(2023 年版)》正式与大家见面,希望能帮助更多临床医师开拓临床思维,引导大家追根溯源、加深理解,持续提升诊疗能力。除此之外,今年的编写团队还得到了医务、法务等部门的大力支持,增加了法规解读、用药制度规范、医学伦理审查等内容,进一步完善了本书的知识结构和内容体系。生而不同,永不放弃。每一个罕见病患者及其家庭的愿望也是所有医者不忘初心、终生执求的答案。希望各位医学同仁阅读本书后,能够在寻找答案的科学道路上,做起而行之的行动者,攻坚克难的奋斗者,创新发展的实践者;也希望协和罕见病多学科诊疗平台能够汇聚更多智慧与资源,携手各方为中国罕见病事业贡献力量,为健康中国建设作出新的更大贡献。由于罕见病学科的独特性,还有诸多未知领域仍待探索攻克,在书籍编写过程中的疏漏之处敬请业内各位专家批评指正。张抒扬2023 年2 月于北京
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