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（三）医源性传播由于医用器械（如吸痰器、雾化器、供氧面罩、气管插管等）消毒不严，暖箱湿度过高使水生菌易于繁殖，或使用呼吸机时间过长等引起肺炎；医护人员洗手不勤，将患儿的致病菌带给其他新生儿；广谱抗生素使用过久容易发生真菌性肺等。 | [
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镜检各病灶存在不同阶段的炎性反应。 | [
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【临床表现】起病前有时有上呼吸道感染的症状，患儿常出现呼吸急促、呻吟、鼻扇、口吐白沫、发绀、发热或体温不升等，吸气时胸廓有三凹征，肺部体征有细湿啰音等。 | [
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呼吸道合胞病毒性肺炎可表现为喘憋、咳嗽，肺部闻及哮鸣音。 | [
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咽部分泌物等进行培养等检测，有助于病原学诊断。 | [
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【治疗】（一）加强护理和监护注意保暖，使患儿皮温达36.5℃，环境湿度在50%以上。 | [
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吸净口咽、鼻部分泌物，保持呼吸道通畅、定期翻身拍背有利于痰液排出。 | [
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（二）供氧有低氧血症时可根据病情供氧，维持血氧在6.65～10.7kPa（50～80mmHg），不超过16.0kPa（120mmHg），以防氧中毒。 | [
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（三）抗病原体治疗细菌性肺炎以早期静脉给予抗生素为宜，原则上根据病原菌选用抗生素，如金黄色葡萄球菌可用耐酶青霉素、第一代头孢菌素或阿米卡星；G<sup>-</sup>阴性菌可用第三代头孢菌素。 | [
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（四）支持疗法维持水、电解质平衡；输新鲜血或血浆：每次10ml/kg，根据病情可少量多次应用；丙种球蛋白增加免疫功能对某些肺炎有一定疗效，500mg/（kg•d），可用3～5天。 | [
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参考文献1.吴希如，林庆，主编.小儿神经系统疾病基础与临床（第2版）.北京：人民卫生出版社，20092.林庆.婴幼儿发育医学.北京：人民卫生出版社，19853.PilzD，StoodleyN，GoldenJA.Neuronalmigration，cerebralcorticaldevelopment，andcerebralcorticalanomalies.JNeuropatholExpNeurol.2002，61（1）：1-14.SowellER，TraunerDA，GamstA，etal.Developmentofcorticalandsubcorticalbrainstructuresinchildhoodandadolesc... | [
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四、Kartagener综合征本病1933年由Kartagener首次报告，包括支气管扩张、鼻窦炎或鼻息肉、内脏转位（主要为右位心）。 | [
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病因尚未肯定，可能与遗传及原发性纤毛动力障碍（primaryciliadyskinesia，PCD）即纤毛不动综合征（immotileciliasyndrome）有关。 | [
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50%PCD患儿伴发本病。 | [
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由于纤毛轴丝臂缺乏，引起纤毛活动能力丧失，黏液纤毛运输功能障碍，引起分泌物和细菌的潴留，导致持续感染，日久即演变为支气管扩张和鼻窦炎，亦可表现广泛性毛细支气管炎。 | [
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心脏及胃泡在右侧，肝浊音区在左侧。 | [
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常合并先天性心脏病、脑积水、肛门闭锁、尿道下裂、重复肾等畸形。 | [
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支气管造影显示支气管呈柱状或囊状扩张。 | [
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支气管黏膜活检组织电子显微镜下可观察到纤毛超微结构缺陷或有纤毛功能异常的证据。 | [
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如有鼻窦炎或下呼吸道感染，应积极给予抗生素治疗。 | [
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对局灶性支气管扩张伴反复感染、咯血等严重症状，且不易控制者可考虑手术切除。 | [
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第三节肢带型肌营养不良最初的肢带型肌营养不良（limb-girdlemusculardystrophy，LGMD）的分型由Walton及Nattrass于1954年确定。 | [
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表16-14LGMDS分类【临床表现】所有类型患者都表现为肢带肌无力，而面肌、眼外肌及咽肌不受累肌无力的程度个体差异很大。 | [
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{
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"entity": "咽肌",
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据报道Calpain-3缺乏患者（LGMD2A）有腓肠肌挛缩，造成足趾行走。 | [
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在某些家系中，受累者可有近端肌群或远端肌群受累的表现智能往往正常。 | [
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... |
LGMD1B可合并心肌病，62.5%患者在50岁左右出现心脏传导系统紊乱，并造成心动过缓及晕厥，需要安装心脏起搏器，也可发生猝死。 | [
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【诊断】（一）临床表现肌无力与阳性家族史。 | [
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（二）实验室检查1.血清CK血清CK可增高，常染色体隐性遗传型LGMD患者比显性遗传型增高更明显，但由于有重叠现象，因此不可能依靠CK水平作出诊断。 | [
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2.肌电图及肌肉活体组织检查肌电图示肌源性损伤，肌肉活体组织检查为非特异性肌源性改变。 | [
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3.其他检查如通过组织染色，以抗体检测肌聚糖复合物的成分，但缺乏特异性。 | [
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4.基因诊断LGMDs或为常染色体显性遗传（LGMD1A、1B和1C），或为常染色体隐性遗传（LGMD2A～H）。 | [
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对α-肌聚糖缺陷型研究较为深入，已确认了近40种不同的α-肌聚糖基因突变，大多数定位于细胞外区域，特别是在3号外显子，发现了12种不同的基因突变，Arg77Cys最为多见。 | [
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{
"id": 2,
"entity": "细胞",
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在β-肌聚糖缺陷型中，大多数被确认的基因突变发生于细胞外的外显子3和4。 | [
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{
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γ-肌聚糖缺陷型中确定的基因突变则较少，而δ-肌聚糖缺陷型只有2种基因突变，也位于细胞外。 | [
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{
"id": 2,
"entity": "细胞",
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【治疗】各种维持功能的治疗措施均对LGMD患者有利，伸展训练可减轻挛缩，支架及脊柱侧弯手术均可适用，指征同DMD患者。 | [
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{
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{
"id": 2,
"entity": "脊柱侧弯手术",
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同时，rAAV对宿主免疫系统无显著刺激。 | [
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参考文献1.FalkRJ，JennetteJC，NachmanPH.PrimaryGlomerulardisease.In：BrennerBM.BrennerandRector’stheKidney.1st</sup>ed，NY，HarcourtPublisherslimited，1999，1263-12632.TejaniA，IngulliE.Poststrptococcalglomerulonephritis.Currentclinicalandpathologicconcepts.Nephron，1990，55：13.KrausW，OhyamaaK，SynderS，etal.Autoimmunesequenceofstrept... | [
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第四节新生儿疾病筛查新生儿疾病筛查（neonatalscreening）是指医疗保健机构在新生儿群体中，用快速、简便、敏感的检验方法，对一些危及儿童生命、危害儿童生长发育、导致儿童智能障碍的一些先天性疾病和遗传性疾病进行群体筛检，从而使患儿在临床上未出现疾病表现，而其体内生化、激素水平已有明显变化时就做出早期诊断，结合有效治疗，避免患儿重要脏器出现不可逆的损害，保障儿童正常的体格发育和智能发育的系统服务。 | [
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新生儿疾病筛查是预防医学的一项重要措施，目前已在世界范围内推广，成为人类卫生保健的重要内容之一。 | [
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经过40年的发展，新生儿疾病筛查的疾病病种逐步增多，由最初苯丙酮尿症一种增加到数十种，新生儿疾病筛查的概念被普遍认可，新生儿疾病筛查逐步由发达国家向发展中国家普及。 | [
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我国自1981年开始进行新生儿疾病筛查，目前正在由大城市向中小城市推广，由经济较发达的沿海地区向内地发展。 | [
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一、国际新生儿疾病筛查的历史自1934年挪威生化学家Folling首次报道了苯丙酮尿症（PKU）这种疾病以来，世界各国科学家对PKU进行了大量的研究。 | [
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1953年德国Bickel医生首创使用饮食疗法治疗苯丙酮尿症获得成功，并提出早期诊断及早期治疗的重要性，由此设想把患儿尽早从正常人群中筛选出来，新生儿疾病筛查的概念因而形成。 | [
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但是在当时条件下，实验诊断PKU的手段只有三氯化铁试验，其准确性和实用性都不适合新生儿群体普查。 | [
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1961年美国Guthrie医生建立了细菌抑制法对血中苯丙氨酸中苯丙氨酸进行半定量测定，尤其是创立了干血滤纸片血样采集法，血片采集简便，标本运送方便，为开展大规模人群筛查提供了基本条件，苯丙酮尿症的新生儿筛查开始得以实施。 | [
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先天性甲状腺机能减低症（CH）的新生儿筛查首先从美国Pittsburgh用脐血测定促甲状腺激素（TSH）开始，1973年Dussault等用干血滤纸片放射免疫方法测新生儿末梢血T4天的新生儿末梢血T4</sub>进行CH筛查。 | [
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1975年Irie和Naruse在日本采用干血滤纸片法测定TSH的方法进行CH筛查。 | [
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1982年在日本东京召开了第二届国际新生儿筛查大会，会上提出了适合大规模筛查的四种疾病：PKU、CH、半乳糖血症和先天性肾上腺皮质增生症。 | [
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"id": 2,
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随着对遗传代谢病的深入了解和技术的发展，其他一些疾病也被列入了筛查范围，例如葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症、生物素酶缺乏、酪氨酸血症、镰刀状红细胞贫血、组氨酸血症、枫糖尿病、同型胱氨酸尿症、囊性纤维变性、高胱氨酸尿症以及地中海贫血等数十种疾病。 | [
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目前的共识是在众多的出生缺陷疾病中开展新生儿疾病筛查，应该结合本国国情，筛查的疾病选择一般应符合以下几个标准：1.疾病危害严重，可导致残疾或致死，已构成公共卫生问题。 | [
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6.筛查费用相对低廉，筛查、诊断和治疗所需的费用应低于发病后的诊断、治疗的支出费用，即投入、产出比的经济效益良好。 | [
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以苯丙酮尿症为例，在国际上，日本人的PKU发病率最低，为1/80500，其成本/效益比达1∶2.5，根据计算，即使发病率为1/140000，其成本/效益比仍达到1∶1.7。 | [
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我国的PKU发病率约为1∶11000，经济效益应该更为可观。 | [
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由于各国的经济、文化、科技水平、疾病的流行与发病情况不同，开展的项目也不同，其中PKU和CH发病率较高，治疗效果好，多数国家都首先从这两种疾病开始筛查，逐步增加项目。 | [
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新生儿疾病筛查覆盖率由1977年的29.2%上升至1986年的99.8%，至今筛查已超过3千万新生儿，筛查疾病包括苯丙酮尿症、枫糖尿病、同型胱氨酸尿症、半乳糖血症、先天性甲状腺功能减低症和先天性肾上腺皮质增生症等6种疾病。 | [
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此外，日本还对婴儿进行了神经母细胞瘤筛查，调查发现发病率为1∶8000。 | [
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目前全球每年有上千万新生儿进行疾病筛查，一些发达国家已将新生儿疾病筛查列入国家卫生法，或者采用行政手段实施，筛查覆盖率接近100%。 | [
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美国每年有400万婴儿接受新生儿疾病筛查。 | [
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第二节恙虫病【病原及流行病学】恙虫病立克次体是恙虫病（scrubtyphus）的病原体，又称东方立克次体。 | [
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恙虫病是一种自然疫源性疾病，恙螨既是恙虫病唯一的传播媒介，又是恙虫病立克次体的保存宿主。 | [
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恙螨幼虫需吸取人或动物的淋巴液或血液才能完成从幼虫到稚虫的发育过程，只有恙螨的幼虫才是恙虫病的传播媒介。 | [
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携带恙虫病立克次体的啮齿类动物主要有黄毛鼠、黄胸鼠、褐家鼠等。 | [
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恙虫病主要分布于东半球的日本、印度、巴基斯坦、澳大利亚、前苏联的西伯利亚、朝鲜、中国、菲律宾和泰国等地。 | [
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恙虫病的分布过去认为比较局限，近年来不断扩大，病例数有急剧上升趋势。 | [
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我国东南、西北各省区都有恙虫病病例报道。 | [
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【发病机制和病理改变】带有病原体的恙螨幼虫叮咬人体后，立克次体从叮咬部位进入人体，局部繁殖后侵入血流到达全身各组织器官。 | [
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全身及局部淋巴结有炎性细胞浸润、出血及灶性坏死。 | [
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被恙螨叮咬的局部可见焦痂。 | [
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心血管方面有间质性心肌炎、心包积液、冠状动脉和主动脉外膜炎；脑膜充血、大脑水肿、脑膜脑炎；肝脏呈间质性肝炎、中央性坏死、肝组织自溶；出血性脾炎、脾淤血、脾组织自溶；肺炎、肺出血、肺水肿；胃黏膜出血性糜烂，小肠黏膜淋巴细胞浸润，大肠黏膜水肿；泌尿生殖系统也可累及。 | [
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发病急，伴高热寒战，体温在39～41℃，持续2～3周。 | [
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年长儿能自诉头痛、腹痛或全身酸痛。 | [
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尚有精神委靡、嗜睡、食欲减退。 | [
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大多数患儿出现结膜充血，局部及全身浅表淋巴结肿大，肝脾肿大，四肢水肿。 | [
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起病后3～8日多出现皮疹，为疏散的斑丘疹，大小不等，初为鲜红色，后逐渐变暗红，重症病例有出血点、瘀斑，压之不褪色。 | [
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{
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{
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皮疹可持续7～12天，以后开始消退，无脱屑。 | [
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焦痂是恙虫病的特有症状，是恙虫叮咬的部位。 | [
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}
] |
为圆形或椭圆形，直径约1～2cm，边缘稍突起，高出于皮肤，周围有红晕，中央稍凹陷，表面黑色，不化脓，在软组织部位仅呈白色溃疡面，溃疡大多不痛，常不为患者注意。 | [
{
"id": 0,
"entity": "周围有红晕，中央稍凹陷，表面黑色，不化脓",
"start_offset": 29,
"end_offset": 49,
"label": "sym"
},
{
"id": 1,
"entity": "白色溃疡面",
"start_offset": 58,
"end_offset": 63,
"label": "sym"
}
] |
【诊断】（一）流行病学资料为恙虫病的自然疫源地区；1周前曾去过草地或鼠类出没的污秽环境。 | [
{
"id": 0,
"entity": "恙虫病",
"start_offset": 14,
"end_offset": 17,
"label": "dis"
}
] |
（二）临床症状和体征除发热和皮疹外，焦痂具有特殊的诊断价值。 | [
{
"id": 0,
"entity": "发热",
"start_offset": 11,
"end_offset": 13,
"label": "sym"
},
{
"id": 1,
"entity": "皮疹",
"start_offset": 14,
"end_offset": 16,
"label": "sym"
},
{
"id": 2,
"entity": "焦痂",
"start_offset": 18,
"end_offset": 20,
"label": "sym"
... |
外斐试验特异性敏感性低，不应作为恙虫病的诊断方法。 | [
{
"id": 0,
"entity": "外斐试验",
"start_offset": 0,
"end_offset": 4,
"label": "pro"
},
{
"id": 1,
"entity": "恙虫病",
"start_offset": 16,
"end_offset": 19,
"label": "dis"
}
] |
免疫荧光试验检测患者血清中的抗恙虫病立克次体IgM、IgG效价，效价在1∶80以上有诊断意义。 | [
{
"id": 0,
"entity": "免疫荧光试验检测",
"start_offset": 0,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "血清",
"start_offset": 10,
"end_offset": 12,
"label": "bod"
}
] |
应用聚合酶链反应可在发病2天内检出恙虫病立克次体特异性DNA而作出病原学诊断。 | [
{
"id": 0,
"entity": "聚合酶链反应",
"start_offset": 2,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "恙虫病立克次体特异性DNA",
"start_offset": 17,
"end_offset": 30,
"label": "mic"
}
] |
【治疗及预防】（一）治疗可用氯霉素、四环素、多西环素治疗。 | [
{
"id": 0,
"entity": "氯霉素",
"start_offset": 14,
"end_offset": 17,
"label": "dru"
},
{
"id": 1,
"entity": "四环素",
"start_offset": 18,
"end_offset": 21,
"label": "dru"
},
{
"id": 2,
"entity": "多西环素",
"start_offset": 22,
"end_offset": 26,
"label": "dru... |
重症可采用静脉滴注。 | [
{
"id": 0,
"entity": "静脉滴注",
"start_offset": 5,
"end_offset": 9,
"label": "pro"
}
] |
同时应注意对症支持治疗。 | [
{
"id": 0,
"entity": "对症支持治疗",
"start_offset": 5,
"end_offset": 11,
"label": "pro"
}
] |
（二）预防重视环境卫生，消灭老鼠。 | [
{
"id": 0,
"entity": "消灭老鼠",
"start_offset": 12,
"end_offset": 16,
"label": "pro"
}
] |
目前尚未研制出高效理想的恙虫病疫苗。 | [
{
"id": 0,
"entity": "恙虫病疫苗",
"start_offset": 12,
"end_offset": 17,
"label": "dru"
}
] |
【预后】轻者于1周后可退热，重者于2～3周退热，一切症状减轻而进入恢复期，但并发肺炎、出现脑症状、胃肠道大出血者则预后不良。 | [
{
"id": 0,
"entity": "退热",
"start_offset": 11,
"end_offset": 13,
"label": "sym"
},
{
"id": 1,
"entity": "退热",
"start_offset": 21,
"end_offset": 23,
"label": "sym"
},
{
"id": 2,
"entity": "肺炎",
"start_offset": 40,
"end_offset": 42,
"label": "dis"
... |
参考文献1.王振义，李家增，阮长耿.血栓与止血-基础理论与临床.第2版.上海：上海科学技术出版社，1996：261-261，283-283，298-298，312-3122.陈淑容.血友病A//王振义，李家增，阮长耿.血栓与止血-基础理论与临床.第2版.上海：上海科学技术出版社，1996，283-2833.高怡瑾.血友病的诊断治疗研究进展.国外医学儿科学分册，1999，26（4）∶169-1694.李志广.血友病A基因突变及其检测方法的进展.国外医学临床生物化学与检验学分册，2000，21（6）∶310-3105.阮长耿.血管性血友病.//张之南.血液病诊断及治疗标准.第2版.北京：科学出版社，1998，312-3126.张之南.血... | [
{
"id": 0,
"entity": "血栓",
"start_offset": 18,
"end_offset": 20,
"label": "dis"
},
{
"id": 1,
"entity": "血友病A",
"start_offset": 91,
"end_offset": 95,
"label": "dis"
},
{
"id": 2,
"entity": "血栓",
"start_offset": 109,
"end_offset": 111,
"label": "dis... |
三、扁桃体周围脓肿扁桃体周围脓肿（peritonsillarabscess）常见的病原是A组溶血性链球菌和口腔厌氧菌。 | [
{
"id": 0,
"entity": "扁桃体周围脓肿",
"start_offset": 3,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "扁桃体周围脓肿",
"start_offset": 10,
"end_offset": 17,
"label": "dis"
},
{
"id": 2,
"entity": "peritonsillarabscess",
"start_offset": 18,
"end_offset"... |
多数先有咽扁桃体炎病史。 | [
{
"id": 0,
"entity": "咽扁桃体炎",
"start_offset": 4,
"end_offset": 9,
"label": "dis"
}
] |
受累侧扁桃体明显充血肿大。 | [
{
"id": 0,
"entity": "扁桃体",
"start_offset": 3,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "受累侧扁桃体明显充血肿大",
"start_offset": 0,
"end_offset": 12,
"label": "sym"
}
] |
如既往无慢性扁桃体炎病史，复发率约10%，无需扁桃体切除。 | [
{
"id": 0,
"entity": "慢性扁桃体炎",
"start_offset": 4,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "扁桃体切除",
"start_offset": 23,
"end_offset": 28,
"label": "pro"
}
] |
如既往有慢性扁桃体炎或扁桃体脓肿史，最好行扁桃体切除术。 | [
{
"id": 0,
"entity": "慢性扁桃体炎",
"start_offset": 4,
"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "扁桃体脓肿",
"start_offset": 11,
"end_offset": 16,
"label": "dis"
},
{
"id": 2,
"entity": "扁桃体切除术",
"start_offset": 21,
"end_offset": 27,
"label"... |
第二节纤维支气管镜术自1964年日本Ikeda采用可曲式光导纤维支气管镜（flexiblefiberopticbronchoscope）以来，随着激光、荧光微波、电视等技术的进展以及临床的需要，纤维支气管镜的功能与用途不断扩展，目前已成为成人支气管及肺部疾病诊断和治疗的重要工具。 | [
{
"id": 0,
"entity": "纤维支气管镜术",
"start_offset": 4,
"end_offset": 11,
"label": "pro"
},
{
"id": 1,
"entity": "可曲式光导纤维支气管镜",
"start_offset": 26,
"end_offset": 37,
"label": "equ"
},
{
"id": 2,
"entity": "flexiblefiberopticbronchoscope",
"start_offset": 38,
... |
由于小儿气道狭窄及配合不佳等原因，纤维支气管镜在儿科临床应用中起步较晚。 | [
{
"id": 0,
"entity": "气道狭窄",
"start_offset": 4,
"end_offset": 8,
"label": "sym"
},
{
"id": 1,
"entity": "纤维支气管镜",
"start_offset": 17,
"end_offset": 23,
"label": "equ"
},
{
"id": 2,
"entity": "儿科",
"start_offset": 24,
"end_offset": 26,
"label": "dep... |
但近年来国内小儿纤维支气管镜检查与治疗已得到了很大的发展。 | [
{
"id": 0,
"entity": "小儿纤维支气管镜",
"start_offset": 6,
"end_offset": 14,
"label": "pro"
}
] |
一、小儿纤维支气管镜的检查和治疗技术（一）形态学检查纤维支气管镜纤细、柔软又可弯曲，在气管中可以随意调整前进方向。 | [
{
"id": 0,
"entity": "小儿纤维支气管镜",
"start_offset": 2,
"end_offset": 10,
"label": "pro"
},
{
"id": 1,
"entity": "纤维支气管镜",
"start_offset": 26,
"end_offset": 32,
"label": "equ"
},
{
"id": 2,
"entity": "气管",
"start_offset": 43,
"end_offset": 45,
"label":... |
能进入硬支气管镜无法探及的左右上叶，并可插入到段、亚段支气管以下。 | [
{
"id": 0,
"entity": "硬支气管镜",
"start_offset": 3,
"end_offset": 8,
"label": "equ"
},
{
"id": 1,
"entity": "左右上叶",
"start_offset": 13,
"end_offset": 17,
"label": "bod"
},
{
"id": 2,
"entity": "段、亚段支气管",
"start_offset": 23,
"end_offset": 30,
"label": ... |
从声门由上而下注意黏膜是否正常、管腔有无变形、管壁运动状况，有无赘生物、异物、出血点、窦道及分泌物情况。 | [
{
"id": 0,
"entity": "声门",
"start_offset": 1,
"end_offset": 3,
"label": "bod"
},
{
"id": 1,
"entity": "黏膜",
"start_offset": 9,
"end_offset": 11,
"label": "bod"
},
{
"id": 2,
"entity": "管腔",
"start_offset": 16,
"end_offset": 18,
"label": "bod"
},
... |
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