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（四）肌肉活体组织检查肌肉活体组织检查对确诊SMA具有重要意义，其病理表现特征是具有失神经和神经再支配现象。 | [
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各型SMA有不同的肌肉病理特点，病程早期有同型肌群化，晚期可有肌纤维坏死。 | [
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"entity": "肌纤维坏死",
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【治疗】目前尚无有效治疗，治疗措施主要是预防或治疗SMA的各种并发症。 | [
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由于肋间肌和膈肌的肌无力，引起通气不足以及咳嗽微弱；长期卧床可造成坠积；误吸也可造成肺炎。 | [
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"entity": "肺炎",
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预防肺炎的有效措施有辅助咳嗽、胸部叩击治疗及间歇正压通气。 | [
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即使在没有急性呼吸道感染的情况下，患者也需保持良好的肺部通气状态，预防发生进行性肺不张。 | [
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除急性感染患者，氧疗一般不适用，因为限制性肺病患者在出现低氧血症前就已有CO2</sub>潴留，氧疗可能会引起呼吸功能抑制，呼吸暂停，最终导致死亡。 | [
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"entity": "呼吸暂停",
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血气和FVC是有效的监测手段，当患者出现CO2</sub>潴留，可应用非侵入性通气、正压或负压通气。 | [
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患者常由于吮吸乏力、气道不畅营养不良和生长障碍。 | [
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部分不能经口摄入足够热量的患者，需要予以鼻饲喂养。 | [
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脊柱矫正法常不能预防或延缓脊柱侧弯，但可以帮助患者坐起。 | [
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无论有无脊柱矫正，患者的肺功能均应予以监测。 | [
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脊柱手术的时间至关重要，因为必须让患儿充分生长，并等待时机直至弯曲已十分严重，同时只有肺功能相对正常时才有望进行手术。 | [
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脊柱融合术后，脊柱侧弯的程度将明显改善，同时肺活量、坐、平衡以及舒适感也明显改善。 | [
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另外，有学者对6例SMA病例进行促甲状腺激素释放激素（TRH）治疗，剂量为每次0.1mg/kg，通过经皮静脉导管给药。 | [
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结果显示患儿腓神经传导速度比对照组明显增快，且患儿家长也反映患儿某些功能明显改善。 | [
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因此TRH不失为一种有用的治疗手段，但需要进一步研究证实。 | [
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随着SMN和NAIP基因的确认及深入研究，基因治疗或体外基因活化治疗将是非常有希望的治疗手段。 | [
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【预后】目前为止，SMA无特异治疗，预后主要与疾病的类型有关，Ⅰ型患者一般生存期在2岁以内，Ⅱ型患者生存期在5岁以内，而Ⅲ型患者可存活至成人，部分患者不影响寿命。 | [
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参考文献1.李家宜，苏祖佑，陈新民.心肌炎//杨思源.小儿心脏病学.第2版.北京：人民卫生出版社，1994：359-3592.中华医学会儿科学分会心血管学组.中华儿科杂志编辑委员会.病毒性心肌炎诊断标准（修订草案）.中华儿科杂志，2000，38（2）：753.AingerLE，LawyerNG，FitchCW.Neonatalrubellamyocarditis.BrHeartJ，1996，28：691-6974.BowlesNE，TowbinJA.Molecularaspectsofmyocarditis.CurrOpinCardiol，1998，13：179-1795.FriedmanRA，SchowengerdtKO，TowbinJA.Myocarditis.In：BrickerJT，GarsonAJr，FisherDJ，etal.Thescienceandpracticeofpediatriccardiology，2nded.Baltimore：Williams＆Wilkins，1998，1777-17776.LiuPP，MasonJW.Advancesintheunderstandingofmyocarditis.Circulation，2001，104：1076-10767.MasonJW，O’ConnellJB，HerskowitzA，etal.Aclinicaltrialofimmunosuppressivetherapyformyocarditis.NEnglJMed，1995，33：269-2698.ParrilloJE.Myocarditis：howshouldwetreatin1998？ | [
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三、在经验性治疗前，应进行病原菌培养和药敏试验尽管呼吸道感染病原学检查阳性率不高，而且结果有明显的滞后性，但阳性的结果对治疗有很高的指导价值，尤其在初次经验性治疗失败后，有助于对治疗方案的修正，改善治疗效果。 | [
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为了尽可能减少药物治疗对病原学检查结果的影响，在经验性治疗之前，进行必要的病原学检查。 | [
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病原学检查主要对痰、胸腔积液、经皮肺穿刺物和肺泡灌洗液进行涂片后革兰染色、抗酸染色、免疫荧光或酶标抗体染色，细菌培养或病原核酸测定。 | [
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革兰染色可以显示：镰刀状成串排列双球菌（肺炎链球菌）、成簇分布的革兰阳性球菌（金黄色葡萄球菌）、革兰阴性球杆菌（流感嗜血杆菌）、革兰阴性杆菌（肺炎克雷伯杆菌或肠杆菌）；抗酸染色阳性，提示为结核杆菌感染；必要时可以用免疫荧光或酶标抗体染色后进行确认。 | [
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只有25%～50%的CAP痰培养阳性，即使有菌血症的患儿，痰培养阳性率也仅为40%～60%。 | [
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由于一些致病菌，如肺炎链球菌和流感嗜血杆菌可以是正常口腔菌群的一部分，从痰标本分离出的病原菌不一定是致病的原因；而且非典型病原中如肺炎支原体、肺炎衣原体以及厌氧菌，常规痰培养难以获得阳性结果，因而痰培养的结果也只能作为临床治疗的参考。 | [
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"end_offset": 39,
"label": "equ"
},
{
"id": 5,
"entity": "病原菌",
"start_offset": 43,
"end_offset": 46,
"label": "mic"
},
{
"id": 6,
"entity": "肺炎支原体",
"start_offset": 65,
"end_offset": 70,
"label": "mic"
},
{
"id": 7,
"entity": "肺炎衣原体",
"start_offset": 71,
"end_offset": 76,
"label": "mic"
},
{
"id": 8,
"entity": "厌氧菌",
"start_offset": 78,
"end_offset": 81,
"label": "mic"
},
{
"id": 9,
"entity": "痰培养",
"start_offset": 84,
"end_offset": 87,
"label": "ite"
},
{
"id": 10,
"entity": "痰培养",
"start_offset": 98,
"end_offset": 101,
"label": "ite"
}
] |
必要时，通过经皮肺穿刺或纤维支气管镜获取肺泡灌洗液进行培养，有助于明确下呼吸道感染局部的病原，对难治性下呼吸道感染有重要价值。 | [
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"entity": "经皮肺穿刺",
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{
"id": 1,
"entity": "纤维支气管镜",
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{
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{
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{
"id": 4,
"entity": "下呼吸道感染",
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"end_offset": 57,
"label": "dis"
}
] |
血液或胸腔积液中分离出的病原菌具有高度的特异性，但住院肺炎患儿的血培养阳性率仅为5%～20%，伴有胸腔积液的肺炎只占住院肺炎患儿15%。 | [
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"id": 0,
"entity": "血液",
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"id": 1,
"entity": "胸腔积液",
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{
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"entity": "肺炎",
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"id": 4,
"entity": "血培养",
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{
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"entity": "胸腔积液",
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{
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"entity": "肺炎",
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{
"id": 7,
"entity": "肺炎",
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"end_offset": 62,
"label": "dis"
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] |
此外还可以进行血清病原特异性抗体测定，如肺炎支原体抗体、结核抗体等。 | [
{
"id": 0,
"entity": "血清病原特异性抗体测定",
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"id": 1,
"entity": "肺炎支原体抗体",
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{
"id": 2,
"entity": "结核抗体",
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"label": "bod"
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] |
但特异性抗体的产生和消失具有明显的滞后性，要明确本次感染的病原，必须进行动态观察抗体滴度的改变。 | [
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] |
参考文献1.周吕.胃肠生理学基础与临床.北京：科学出版社，1991：3432.江米足，叶瑞云，欧弼悠，等.24小时食管pH值小儿胃食管反流.中华儿科杂志，1997，35：2603.MazioIL，GiacobleA，ConoscitoreP，etal.Evaluationoftheuseofultrasonographyinthestudyofliquidgastricemptying.AmJGastroenterol，1989，84：4964.HillemierAC.Gastroesophagealreflux：diagnosticandtherapeuticapproaches.PediatricClinNorthAm，1996，43：197 | [
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"entity": "胃肠",
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"id": 1,
"entity": "食管pH值",
"start_offset": 57,
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{
"id": 2,
"entity": "小儿胃食管反流",
"start_offset": 62,
"end_offset": 69,
"label": "dis"
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] |
二、红细胞沉降率与急性期反应物希腊人很早就发现某些风湿性疾病患者有血红细胞沉降率（ESR，以下简称血沉）加快现象，现已证明ESR反映了红细胞凝集性变化，多种生物机制都可能影响其凝集性，尤其是血浆中某些蛋白质量增加，特别是纤维蛋白。 | [
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"id": 0,
"entity": "红细胞沉降率",
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{
"id": 1,
"entity": "急性期反应物",
"start_offset": 9,
"end_offset": 15,
"label": "ite"
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{
"id": 2,
"entity": "风湿性疾病",
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"label": "dis"
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{
"id": 3,
"entity": "血红细胞沉降率",
"start_offset": 33,
"end_offset": 40,
"label": "ite"
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{
"id": 4,
"entity": "ESR",
"start_offset": 41,
"end_offset": 44,
"label": "ite"
},
{
"id": 5,
"entity": "血沉",
"start_offset": 49,
"end_offset": 51,
"label": "ite"
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{
"id": 6,
"entity": "ESR",
"start_offset": 61,
"end_offset": 64,
"label": "ite"
},
{
"id": 7,
"entity": "红细胞",
"start_offset": 67,
"end_offset": 70,
"label": "ite"
},
{
"id": 8,
"entity": "血浆",
"start_offset": 95,
"end_offset": 97,
"label": "ite"
},
{
"id": 9,
"entity": "蛋白",
"start_offset": 100,
"end_offset": 102,
"label": "ite"
},
{
"id": 10,
"entity": "纤维蛋白",
"start_offset": 110,
"end_offset": 114,
"label": "ite"
}
] |
急性期反应蛋白成分增加是炎症状态下的非特异性现象，也是ESR加快的重要原因。 | [
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"id": 0,
"entity": "急性期反应蛋白成分",
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"end_offset": 9,
"label": "ite"
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{
"id": 1,
"entity": "ESR",
"start_offset": 27,
"end_offset": 30,
"label": "ite"
}
] |
相反，红细胞增多症、镰状细胞贫血以及变形红细胞增多等均将出现ESR减慢。 | [
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"id": 0,
"entity": "红细胞增多症",
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{
"id": 1,
"entity": "镰状细胞贫血",
"start_offset": 10,
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"label": "dis"
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"label": "dis"
},
{
"id": 3,
"entity": "ESR",
"start_offset": 30,
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"label": "ite"
}
] |
但并不是所有活动性炎症病人ESR都会升高，ESR检测正常也不能除外风湿性疾病活动的可能性。 | [
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"label": "pro"
},
{
"id": 2,
"entity": "风湿性疾病",
"start_offset": 33,
"end_offset": 38,
"label": "dis"
}
] |
检测ESR或任何一种急性期反应物对风湿性疾病的诊断价值甚微。 | [
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"id": 0,
"entity": "ESR",
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"start_offset": 10,
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"label": "ite"
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{
"id": 2,
"entity": "风湿性疾病",
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"end_offset": 22,
"label": "dis"
}
] |
第七节弓形虫病弓形虫病（toxoplasmosis）是一种由刚地弓形虫（toxoplasmagondii）所致的一种人畜共患的寄生虫性传染病。 | [
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{
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"entity": "toxoplasmosis",
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{
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"entity": "toxoplasmagondii",
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{
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"entity": "寄生虫性传染病",
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【病原】刚地弓形虫是一种专性细胞内寄生的原虫，属顶端复合物亚门，孢子纲，真球虫目。 | [
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{
"id": 1,
"entity": "原虫",
"start_offset": 20,
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"label": "mic"
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] |
弓形虫以三种形态存在：滋养体、囊殖子、卵囊。 | [
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"entity": "弓形虫",
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滋养体大小为3μm×7μm，呈新月形，滋养体可感染所有哺乳动物的细胞，是急性感染的特征；囊殖子的大小与滋养体相同，可在宿主体内的组织中持续终生，是感染复发的来源；卵囊大小约10μm×12μm，随粪便排出体外的卵囊发育成孢子囊并产生孢子。 | [
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"label": "dis"
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{
"id": 1,
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"start_offset": 73,
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"label": "dis"
},
{
"id": 2,
"entity": "粪便",
"start_offset": 97,
"end_offset": 99,
"label": "bod"
}
] |
刚地弓形虫基因组含有8×107</sup>个碱基对。 | [
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【流行病学】弓形虫病在世界上分部广泛，感染率约为25%～50%左右，欧美某些国家高达50%以上。 | [
{
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] |
根据卫生部2001年6月～2004年年底在全国进行的人体重要寄生虫病现状调查，弓形虫的血清学阳性率为7.88%，贵州最高15.09%，黑龙江最低为0.55%。 | [
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"entity": "寄生虫病",
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{
"id": 1,
"entity": "弓形虫",
"start_offset": 39,
"end_offset": 42,
"label": "mic"
}
] |
免疫功能正常的母亲在妊娠期间受到初次感染，或者免疫受损的母亲受到急性或慢性感染，胎儿可获得先天性感染。 | [
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"entity": "感染",
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{
"id": 1,
"entity": "免疫受损",
"start_offset": 23,
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{
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},
{
"id": 3,
"entity": "先天性感染",
"start_offset": 45,
"end_offset": 50,
"label": "dis"
}
] |
母婴总的传播率为29%，孕妇弓形虫IgM血清转化出现时间与其子女临床症状的发生有明显相关，当孕期13周出现IgM阳性，其子女发生临床症状的危险率为61%，26周时为25%。 | [
{
"id": 0,
"entity": "IgM阳性",
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"end_offset": 58,
"label": "sym"
}
] |
【临床表现】弓形虫病在不同人群的表现差异较大。 | [
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] |
（一）在免疫功能正常的年长儿中的感染原发性感染为无症状性，或引起淋巴结肿大，伴或不伴发热，引起脑、心、眼等组织损伤者少见。 | [
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"entity": "原发性感染",
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{
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{
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"entity": "发热",
"start_offset": 42,
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{
"id": 3,
"entity": "脑、心、眼等组织损伤",
"start_offset": 47,
"end_offset": 57,
"label": "dis"
}
] |
淋巴结肿大最常见于颈部，但也可累及所有解剖部位的淋巴结，可有触痛，不发生化脓，病程可持续1年。 | [
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{
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"label": "sym"
},
{
"id": 4,
"entity": "化脓",
"start_offset": 36,
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"label": "sym"
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] |
（二）在免疫受损的年长儿中的感染原发感染，或慢性、既往隐性感染的再活化，可累及所有器官，但最常见的是中枢神经系统。 | [
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"entity": "免疫受损",
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{
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{
"id": 4,
"entity": "中枢神经系统",
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] |
40%的艾滋病患者发生活动性弓形虫病。 | [
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{
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"entity": "活动性弓形虫病",
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"label": "dis"
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] |
在伴有艾滋病的患者中，脑是最常受累的器官，但肺、眼和多个器官也可受累。 | [
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{
"id": 2,
"entity": "肺",
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"label": "bod"
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{
"id": 3,
"entity": "眼",
"start_offset": 24,
"end_offset": 25,
"label": "bod"
}
] |
伴有艾滋病的患者表现为局限性神经系统体征（包括偏瘫，语言异常）、惊厥、帕金森体征、痴呆、精神异常。 | [
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"id": 0,
"entity": "艾滋病",
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{
"id": 1,
"entity": "局限性神经系统体征",
"start_offset": 11,
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{
"id": 2,
"entity": "偏瘫",
"start_offset": 23,
"end_offset": 25,
"label": "sym"
},
{
"id": 3,
"entity": "语言异常",
"start_offset": 26,
"end_offset": 30,
"label": "sym"
},
{
"id": 4,
"entity": "惊厥",
"start_offset": 32,
"end_offset": 34,
"label": "sym"
},
{
"id": 5,
"entity": "帕金森体征",
"start_offset": 35,
"end_offset": 40,
"label": "sym"
},
{
"id": 6,
"entity": "痴呆",
"start_offset": 41,
"end_offset": 43,
"label": "sym"
},
{
"id": 7,
"entity": "精神异常",
"start_offset": 44,
"end_offset": 48,
"label": "sym"
}
] |
（三）宫内获得性感染先天性弓形虫感染较后天性感染严重。 | [
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"entity": "宫内获得性感染",
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{
"id": 1,
"entity": "先天性弓形虫感染",
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{
"id": 2,
"entity": "后天性感染",
"start_offset": 19,
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"label": "dis"
}
] |
在妊娠4、5、6个月传播的感染若不治疗，出生时也常出现弓形虫病症状；在妊娠7、8、9个月获得的感染在新生儿期常无症状，若不治疗，几乎同样引起后遗症，如脉络膜视网膜炎和视力受损，也有认知和运动功能障碍、惊厥和听力受损。 | [
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"id": 0,
"entity": "弓形虫病",
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"end_offset": 31,
"label": "dis"
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{
"id": 1,
"entity": "脉络膜视网膜炎",
"start_offset": 75,
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"label": "dis"
},
{
"id": 2,
"entity": "视力受损",
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"label": "dis"
},
{
"id": 3,
"entity": "认知和运动功能障碍",
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"label": "dis"
},
{
"id": 4,
"entity": "惊厥",
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"label": "dis"
},
{
"id": 5,
"entity": "听力受损",
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"end_offset": 107,
"label": "dis"
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] |
（一）患儿的血液、骨髓、淋巴穿刺液或脑脊液沉淀等涂片用吉姆萨或瑞氏染色可能找到病原，但阳性率不高。 | [
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"label": "bod"
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{
"id": 2,
"entity": "淋巴穿刺液",
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{
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"entity": "脑脊液沉淀",
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{
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"entity": "涂片",
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{
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"entity": "吉姆萨",
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"entity": "瑞氏染色",
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"entity": "阳性率不高",
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（二）血清学检查方法1.亚甲蓝染色试验在感染早期（10～14天）即开始阳性，第3～5周效价可达高峰，可维持数月和数年，而从母亲得来的抗体在生后3～6个月内消失。 | [
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{
"id": 1,
"entity": "抗体",
"start_offset": 66,
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2.间接免疫荧光试验所测抗体是抗弓形虫IgG抗体，其临床意义与亚甲蓝染色试验相仿。 | [
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"id": 1,
"entity": "抗弓形虫IgG抗体",
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"entity": "亚甲蓝染色试验",
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3.聚合酶链反应可以早期、快速地明确诊断。 | [
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【治疗】弓形虫病的治疗因不同的感染人群及免疫功能而不同。 | [
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（一）急性弓形虫病的孕妇若胎儿未感染，螺旋霉素1g，8小时1次，不与食物同服，疗程到发现胎儿感染为止，或在18～20周停用；若发现胎儿感染，可换用乙胺嘧啶、磺胺嘧啶和四氢叶酸，足月为止。 | [
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{
"id": 4,
"entity": "四氢叶酸",
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（二）妊娠17周后肯定胎儿感染或母亲在妊娠最后几周内获得感染乙胺嘧啶负荷量：100mg/d，分为2次，2天后改为50mg/d；磺胺嘧啶负荷量：75mg/（kg•d），分为2次，（最大量4g/d），2天后改为100mg/（kg•d）分2次（最大量4g/d）；四氢叶酸5～20mg/d。 | [
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"entity": "四氢叶酸",
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疗程到足月为止（在乙胺嘧啶停用后，四氢叶酸继用1周）。 | [
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"entity": "四氢叶酸",
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（三）婴儿先天性弓形虫感染乙胺嘧啶负荷量：2mg/（kg•d），2天后改为1mg/（kg•d），持续2～6个月后改为每周一、三、五各服1次；磺胺嘧啶100mg/（kg•d），分2次；四氢叶酸5～10mg，每周3次。 | [
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"entity": "婴儿先天性弓形虫感染",
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疗程1年（在乙胺嘧啶停用后，四氢叶酸继用一周）。 | [
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{
"id": 1,
"entity": "四氢叶酸",
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（四）年长儿活动性脉络膜视网膜炎乙胺嘧啶负荷量：2mg/（kg•d）（最大剂量50mg），2天后改为1mg/（kg•d），最大剂量25mg维持。 | [
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"entity": "年长儿活动性脉络膜视网膜炎",
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磺胺嘧啶负荷量：75mg/（kg•d），然后以50mg/（kg•d）维持，12小时1次。 | [
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四氢叶酸5～20mg，每周3次。 | [
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皮质类固醇1mg/（kg•d），分为2次。 | [
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（五）免疫功能正常的儿童单纯淋巴结肿大者，不需治疗；若重要器官损害，危及生命，治疗同“年长儿活动性脉络膜视网膜炎”，无需肾上腺皮质类固醇，疗程常为4～6周或在体征和症状消退后继续用2周。 | [
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{
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"entity": "肾上腺皮质类固醇",
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] |
做好人、畜的粪便的管理。 | [
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"entity": "做好人、畜的粪便的管理",
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肉、蛋、乳类食物要煮熟，饭前洗手。 | [
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"entity": "肉、蛋、乳类食物要煮熟",
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{
"id": 1,
"entity": "饭前洗手",
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"label": "pro"
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孕妇早期用血清学方法检测抗体，若胎儿已受感染者可终止妊娠。 | [
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二、病毒感染性口炎病毒感染性口炎中，疱疹性口炎（herpeticstomatitis）的发病率最高。 | [
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{
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"entity": "herpeticstomatitis",
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【病因】疱疹性口炎又称疱疹性齿龈口炎，由疱疹病毒感染而引起，通过飞沫和接触传染。 | [
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{
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{
"id": 2,
"entity": "疱疹病毒",
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"label": "mic"
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] |
一般不用抗生素，局部可用疱疹净（研细涂之）或中药锡类散等。 | [
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"entity": "中药锡类散",
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进食前为减轻疼痛可用2%利多卡因局部涂之有发热者给予退热剂，患病期间应加强全身支持治疗如给予高维生素高营养流质，或静脉补充营养。 | [
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"entity": "静脉补充营养",
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第十九章进行性肌营养不良进行性肌营养不良（progressivemusculardystrophy）是一组遗传性骨骼肌变性疾病，临床表现为进行性肌无力和肌萎缩，最终完全丧失运动功能。 | [
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{
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{
"id": 4,
"entity": "进行性肌无力",
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{
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"entity": "肌萎缩",
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{
"id": 6,
"entity": "最终完全丧失运动功能",
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"label": "sym"
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] |
肌营养不良主要分为8大类：假肥大型、Emery-DreiFuss型、肢带型、面肩肱型、远端型、强直型、眼咽型和先天性肌营养不良。 | [
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"entity": "肌营养不良",
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{
"id": 1,
"entity": "假肥大型",
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{
"id": 2,
"entity": "Emery-DreiFuss型",
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{
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"entity": "肢带型",
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"id": 4,
"entity": "面肩肱型",
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"label": "dis"
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{
"id": 5,
"entity": "远端型",
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{
"id": 6,
"entity": "强直型",
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{
"id": 7,
"entity": "眼咽型",
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"label": "dis"
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{
"id": 8,
"entity": "先天性肌营养不良",
"start_offset": 55,
"end_offset": 63,
"label": "dis"
}
] |
近年来随着分子生物学研究的不断深入，其中不少类型的基因已经定位，基因产物已经分离，进行基因诊断、基因携带者检出以及产前诊断已成为可能。 | [
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"id": 1,
"entity": "基因",
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尽管肌营养不良的研究有了很大的进展，但至今本病的主要治疗方法仍是支持和对症治疗，尚无提高患者肌力或者延缓肌无力进展的有效药物。 | [
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第一节假肥大型肌营养不良假肥大型肌营养不良包括DMD（Duchennemusculardystrophy，DMD）和BMD（Beckermusculardystrophy，BMD）两型，是X-染色体隐性遗传的等位基因病。 | [
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{
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"entity": "DMD",
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{
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{
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{
"id": 8,
"entity": "X-染色体",
"start_offset": 94,
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"label": "bod"
}
] |
【发病机制】应用分子生物学方法已将DMD的基因定位于X染色体Xp21.1～Xp21.3，致病基因为dystrophin基因，它是至今发现的最大的人类基因，约2000kb以上，含有79个外显子编码，1个14kb的转录区。 | [
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{
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研究表明60%～70%的DMD是由于基因缺失或重复突变所致。 | [
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基因缺失呈非随机性分布，主要发生在基因的中央区（80%），少数发生在5'端（20%）。 | [
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大的基因缺失常常开始于基因的5'端，基因缺失造成开放的读码框的破坏，导致DMD表现。 | [
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"entity": "基因",
"start_offset": 18,
"end_offset": 20,
"label": "bod"
},
{
"id": 3,
"entity": "DMD",
"start_offset": 36,
"end_offset": 39,
"label": "dis"
}
] |
BMD患者，缺失基因保持了翻译读码框，并能产生一个具有一半功能、长度缩短的蛋白质。 | [
{
"id": 0,
"entity": "BMD",
"start_offset": 0,
"end_offset": 3,
"label": "dis"
},
{
"id": 1,
"entity": "基因",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "翻译读码框",
"start_offset": 13,
"end_offset": 18,
"label": "bod"
},
{
"id": 3,
"entity": "蛋白质",
"start_offset": 37,
"end_offset": 40,
"label": "bod"
}
] |
“读码框”假说解释了92%的DMD/BMD患者不同的临床类型。 | [
{
"id": 0,
"entity": "DMD",
"start_offset": 14,
"end_offset": 17,
"label": "dis"
},
{
"id": 1,
"entity": "BMD",
"start_offset": 18,
"end_offset": 21,
"label": "dis"
}
] |
Dystrophin是dystrophin糖蛋白复合物（DGC）的一部分，DGC是膜相关蛋白的综合体，跨越肌纤维膜，连接细胞内的细胞骨架和细胞外的基质。 | [
{
"id": 0,
"entity": "Dystrophin",
"start_offset": 0,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "dystrophin糖蛋白复合物",
"start_offset": 11,
"end_offset": 27,
"label": "bod"
},
{
"id": 2,
"entity": "DGC",
"start_offset": 28,
"end_offset": 31,
"label": "bod"
},
{
"id": 3,
"entity": "DGC",
"start_offset": 37,
"end_offset": 40,
"label": "bod"
},
{
"id": 4,
"entity": "膜相关蛋白的综合体",
"start_offset": 41,
"end_offset": 50,
"label": "bod"
},
{
"id": 5,
"entity": "肌纤维膜",
"start_offset": 53,
"end_offset": 57,
"label": "bod"
},
{
"id": 6,
"entity": "细胞",
"start_offset": 60,
"end_offset": 62,
"label": "bod"
},
{
"id": 7,
"entity": "细胞骨架",
"start_offset": 64,
"end_offset": 68,
"label": "bod"
},
{
"id": 8,
"entity": "细胞",
"start_offset": 69,
"end_offset": 71,
"label": "bod"
}
] |
Duchenne肌营养不良患者，由于dystrophin的缺失导致DGC成分的减少，虽能正常合成但不能正确地装配和整合至肌纤维膜上。 | [
{
"id": 0,
"entity": "Duchenne肌营养不良",
"start_offset": 0,
"end_offset": 13,
"label": "dis"
},
{
"id": 1,
"entity": "dystrophin",
"start_offset": 18,
"end_offset": 28,
"label": "bod"
},
{
"id": 2,
"entity": "DGC",
"start_offset": 33,
"end_offset": 36,
"label": "bod"
},
{
"id": 3,
"entity": "肌纤维膜",
"start_offset": 60,
"end_offset": 64,
"label": "bod"
}
] |
由此推测由于DGC的受损，引发一系列连锁反应，导致DMD的肌细胞坏死。 | [
{
"id": 0,
"entity": "DGC",
"start_offset": 6,
"end_offset": 9,
"label": "bod"
},
{
"id": 1,
"entity": "DMD",
"start_offset": 25,
"end_offset": 28,
"label": "dis"
},
{
"id": 2,
"entity": "肌细胞坏死",
"start_offset": 29,
"end_offset": 34,
"label": "dis"
}
] |
Dystrophin的缺乏使肌纤维膜下的细胞骨架和细胞外基质的联系受到破坏，造成肌纤维膜不稳定，膜撕裂，肌细胞坏死。 | [
{
"id": 0,
"entity": "Dystrophin",
"start_offset": 0,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "肌纤维膜",
"start_offset": 14,
"end_offset": 18,
"label": "bod"
},
{
"id": 2,
"entity": "细胞骨架",
"start_offset": 20,
"end_offset": 24,
"label": "bod"
},
{
"id": 3,
"entity": "细胞外基质",
"start_offset": 25,
"end_offset": 30,
"label": "bod"
},
{
"id": 4,
"entity": "肌纤维膜不稳定",
"start_offset": 40,
"end_offset": 47,
"label": "sym"
},
{
"id": 5,
"entity": "膜撕裂",
"start_offset": 48,
"end_offset": 51,
"label": "sym"
},
{
"id": 6,
"entity": "肌细胞坏死",
"start_offset": 52,
"end_offset": 57,
"label": "sym"
}
] |
【病理改变】各型有不同病理改变，在实验室检查中分别叙述。 | [
{
"id": 0,
"entity": "实验室检查",
"start_offset": 17,
"end_offset": 22,
"label": "pro"
}
] |
【临床表现】（一）骨骼肌DMD患者儿童期发病，一般在4～6岁时走路易跌，奔跑困难，逐渐出现走路和上楼困难，下蹲站起困难。 | [
{
"id": 0,
"entity": "骨骼肌",
"start_offset": 9,
"end_offset": 12,
"label": "bod"
},
{
"id": 1,
"entity": "DMD",
"start_offset": 12,
"end_offset": 15,
"label": "dis"
},
{
"id": 2,
"entity": "走路易跌",
"start_offset": 31,
"end_offset": 35,
"label": "sym"
},
{
"id": 3,
"entity": "奔跑困难",
"start_offset": 36,
"end_offset": 40,
"label": "sym"
},
{
"id": 4,
"entity": "逐渐出现走路和上楼困难",
"start_offset": 41,
"end_offset": 52,
"label": "sym"
},
{
"id": 5,
"entity": "下蹲站起困难",
"start_offset": 53,
"end_offset": 59,
"label": "sym"
}
] |
神经系统检查可见四肢肌力低下，肌肉萎缩，腱反射减弱。 | [
{
"id": 0,
"entity": "神经系统检查",
"start_offset": 0,
"end_offset": 6,
"label": "pro"
},
{
"id": 1,
"entity": "可见四肢肌力低下",
"start_offset": 6,
"end_offset": 14,
"label": "sym"
},
{
"id": 2,
"entity": "肌肉萎缩",
"start_offset": 15,
"end_offset": 19,
"label": "sym"
},
{
"id": 3,
"entity": "腱反射减弱",
"start_offset": 20,
"end_offset": 25,
"label": "sym"
}
] |
由于骨盆带肌肉无力而呈典型的鸭步，肩带肌肉萎缩无力形成翼状肩或游离肩，腹肌和髂腰肌的萎缩无力形成特征性的Gowers征。 | [
{
"id": 0,
"entity": "骨盆带肌肉无力",
"start_offset": 2,
"end_offset": 9,
"label": "dis"
},
{
"id": 1,
"entity": "鸭步",
"start_offset": 14,
"end_offset": 16,
"label": "sym"
},
{
"id": 2,
"entity": "肩带肌肉萎缩无力",
"start_offset": 17,
"end_offset": 25,
"label": "dis"
},
{
"id": 3,
"entity": "翼状肩",
"start_offset": 27,
"end_offset": 30,
"label": "sym"
},
{
"id": 4,
"entity": "游离肩",
"start_offset": 31,
"end_offset": 34,
"label": "sym"
},
{
"id": 5,
"entity": "腹肌",
"start_offset": 35,
"end_offset": 37,
"label": "bod"
},
{
"id": 6,
"entity": "髂腰肌",
"start_offset": 38,
"end_offset": 41,
"label": "bod"
},
{
"id": 7,
"entity": "特征性的Gowers征",
"start_offset": 48,
"end_offset": 59,
"label": "dis"
}
] |
绝大多数患儿有腓肠肌假性肥大舌肌假性肥大心脏大多数DMD患者无心血管症状，只有在疾病晚期和反复感染的应激情况下才出现心力衰竭和心律失常，很少有明显的充血性心力衰竭。 | [
{
"id": 0,
"entity": "腓肠肌",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "腓肠肌假性肥大",
"start_offset": 7,
"end_offset": 14,
"label": "sym"
},
{
"id": 2,
"entity": "舌肌",
"start_offset": 14,
"end_offset": 16,
"label": "bod"
},
{
"id": 3,
"entity": "舌肌假性肥大",
"start_offset": 14,
"end_offset": 20,
"label": "sym"
},
{
"id": 4,
"entity": "心脏",
"start_offset": 20,
"end_offset": 22,
"label": "bod"
},
{
"id": 5,
"entity": "DMD",
"start_offset": 25,
"end_offset": 28,
"label": "dis"
},
{
"id": 6,
"entity": "心血管",
"start_offset": 31,
"end_offset": 34,
"label": "bod"
},
{
"id": 7,
"entity": "心力衰竭",
"start_offset": 58,
"end_offset": 62,
"label": "sym"
},
{
"id": 8,
"entity": "心律失常",
"start_offset": 63,
"end_offset": 67,
"label": "sym"
},
{
"id": 9,
"entity": "充血性心力衰竭",
"start_offset": 74,
"end_offset": 81,
"label": "sym"
}
] |
（三）胃肠道胃肠道的平滑肌也可受累。 | [
{
"id": 0,
"entity": "胃肠道",
"start_offset": 3,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "胃肠道",
"start_offset": 6,
"end_offset": 9,
"label": "bod"
},
{
"id": 2,
"entity": "平滑肌",
"start_offset": 10,
"end_offset": 13,
"label": "bod"
}
] |
急性胃扩张可导致死亡，死于此症的患者尸检显示胃的纵行肌外层有退行性改变便秘。 | [
{
"id": 0,
"entity": "急性胃扩张",
"start_offset": 0,
"end_offset": 5,
"label": "dis"
},
{
"id": 1,
"entity": "尸检",
"start_offset": 18,
"end_offset": 20,
"label": "pro"
},
{
"id": 2,
"entity": "胃",
"start_offset": 22,
"end_offset": 23,
"label": "bod"
},
{
"id": 3,
"entity": "纵行肌外层",
"start_offset": 24,
"end_offset": 29,
"label": "bod"
},
{
"id": 4,
"entity": "胃的纵行肌外层有退行性改变",
"start_offset": 22,
"end_offset": 35,
"label": "sym"
},
{
"id": 5,
"entity": "便秘",
"start_offset": 35,
"end_offset": 37,
"label": "dis"
}
] |
（四）神经系统DMD和BMD患者可有中枢神经系统功能障碍，尤其是智能迟缓，患者平均IQ在正常值的1个标准差以下。 | [
{
"id": 0,
"entity": "神经系统",
"start_offset": 3,
"end_offset": 7,
"label": "bod"
},
{
"id": 1,
"entity": "DMD",
"start_offset": 7,
"end_offset": 10,
"label": "dis"
},
{
"id": 2,
"entity": "BMD",
"start_offset": 11,
"end_offset": 14,
"label": "dis"
},
{
"id": 3,
"entity": "中枢神经系统功能障碍",
"start_offset": 18,
"end_offset": 28,
"label": "dis"
},
{
"id": 4,
"entity": "智能迟缓",
"start_offset": 32,
"end_offset": 36,
"label": "dis"
},
{
"id": 5,
"entity": "患者平均IQ在正常值的1个标准差以下",
"start_offset": 37,
"end_offset": 55,
"label": "sym"
}
] |
智能迟缓的神经病理机制目前尚未明确，是否由于dystrophin蛋白在肌肉和中枢神经系统都有表达有关、尚未肯定。 | [
{
"id": 0,
"entity": "智能迟缓",
"start_offset": 0,
"end_offset": 4,
"label": "dis"
},
{
"id": 1,
"entity": "dystrophin蛋白",
"start_offset": 22,
"end_offset": 34,
"label": "bod"
},
{
"id": 2,
"entity": "肌肉",
"start_offset": 35,
"end_offset": 37,
"label": "bod"
},
{
"id": 3,
"entity": "中枢神经系统",
"start_offset": 38,
"end_offset": 44,
"label": "bod"
}
] |
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