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瑞氏综合征@近年来国内外报告确诊病例很少。
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瑞氏综合征@这一方面可能和水杨酸应用减少有关,更主要的则是临床对遗传代谢病的认识和诊断水平提高的结果。
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瑞氏综合征@很多符合RS临床诊断条件的患儿,最后确诊为脂肪酸或其他代谢障碍,实际上为“类Reye综合征”(Reye’s-likesyndromes)。
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瑞氏综合征@已证实可表现为瑞氏综合征的遗传代谢病包括尿素循环障碍、某些亚型糖原累积病、原发性肉碱缺陷、遗传果糖不耐症、甲基丙二酸血症、3-羟-3-戊二酶血症及脂肪酸β氧化缺陷等。
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瑞氏综合征@【流行病学】美国18岁以下人群发病率为0.1/10万~0.88/10万,部分地区发病率曾高达2.4/10万~8.4/10万。
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瑞氏综合征@20世纪60年代以来,美国疾病控制中心(CDC)登记病例数达3000例以上,死亡率达26%~42%。
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瑞氏综合征@从1967—1973年,年报告病例数为11~83。
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瑞氏综合征@在1974—1983年,报告病例明显增加,其中仅1979—1980年就达555例。
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瑞氏综合征@此后由于慎用阿司匹林,发病人数逐渐下降,死亡率也下降至10%~20%,目前Reye综合征已经十分罕见。
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瑞氏综合征@近年来RS在澳大利亚和新西兰等国也几乎消失。
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瑞氏综合征@我国自1973年以来,广州、上海、福建、贵州、北京及湖南等地均有RS的报道,迄今已报道200余例,其中约100例经尸检证实。
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瑞氏综合征@与欧美RS的临床特点不同,国内报告的RS患儿不一定有病毒感染病史,与阿司匹林的应用也无明显相关。
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瑞氏综合征@【病因和发病机制】RS的病因和发病机制迄今未明。
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瑞氏综合征@研究发现RS病人存在线粒体形态异常肝脏线粒体内酶活性降低线粒体外酶活性保持正常血清中线粒体型GOT增加尿中二羧酸增加急性脂肪酸β氧化紊乱。
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瑞氏综合征@临床观察也发现RS的症状类似于伴有线粒体异常的遗传代谢疾病,而线粒体抑制剂或毒素(如柳酸盐及棘皮油等)可引起类似的临床病理改变。
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瑞氏综合征@因此多数学者认为本病与病毒感染或其他因素诱发的线粒体损伤有关。
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瑞氏综合征@国外证实本病的发生与B型流感和水痘等病毒感染的流行有关。
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瑞氏综合征@【病理】RS的病理改变主要表现在脑和肝脏。
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瑞氏综合征@脑的病理改变主要是脑水肿。
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瑞氏综合征@外观肿胀,重量增加,脑回变平脑沟变浅瑞氏综合征@可见枕骨大孔小脑幕切迹疝瑞氏综合征@光镜下可见神经元损伤脑水肿和脑缺血的继发性病变。
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瑞氏综合征@电镜下可见弥漫性神经元线粒体肿胀瑞氏综合征@星形胶质细胞水肿颗粒减少,并有空泡。
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瑞氏综合征@肝脏外观呈浅黄至白色脂肪含量增加。
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瑞氏综合征@光镜下可见肝细胞脂肪变性瑞氏综合征@电镜检查可见线粒体肿胀和变形线粒体嵴可消失,肝细胞浆中可见许多细小的脂肪滴瑞氏综合征@肝活检发现上述典型的线粒体改变是确定诊断的重要病理依据。
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瑞氏综合征@【临床表现】典型RS呈“双相期”疾病特征。
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瑞氏综合征@患儿常先有前驱期感染(如流感),可伴低热、咳嗽及流涕等症状。
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瑞氏综合征@3~7天后突发高烧、频繁呕吐、惊厥和意识障碍(昏睡或昏迷)等脑病症状瑞氏综合征@重症常有呼吸节律不整等中枢性呼吸衰竭症状,危重者可出现去皮层或去大脑强直。
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瑞氏综合征@常伴循环紊乱、低血糖或腹泻等症状。
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瑞氏综合征@常伴肝脏肿大质地韧或硬,一般不伴黄疸(表16-16)。
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瑞氏综合征@表16-13临床表现根据病程进展,美国国立卫生研究院(NIH)于1982年将RS分为5级。
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瑞氏综合征@一般于1~2天内由Ⅰ级进展至Ⅴ级,危重者多于起病后数日内死亡,重型RS来势凶猛,发展迅速,甚至在24小时内死亡。
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瑞氏综合征@存活者于病情好转后多在2~3日内恢复。
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瑞氏综合征@重型,特别是婴儿存活病例中,脑病后遗症可占1/3~2/3,一般无肝脏后遗症。
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瑞氏综合征@【辅助检查】1.肝功能血清谷草转氨酶、谷丙转氨酶以及肌酸磷酸激酶(CK)在病后明显上升,多于1周内恢复正常。
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瑞氏综合征@血氨明显增高瑞氏综合征@凝血酶原降低瑞氏综合征@2.其他代谢紊乱血清游离脂酸浓度上升瑞氏综合征@尿及血清中出现二羧酸。
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瑞氏综合征@婴幼儿常出现低血糖。
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瑞氏综合征@可出现低肉碱血症、低胆固醇血症、低脂蛋白血症和二羧酸血(尿)症。
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瑞氏综合征@血乳酸及丙酮酸增高瑞氏综合征@3.脑脊液压力多明显增高,脑脊液常规检查大多正常,低血糖明显者糖含量相应降低瑞氏综合征@4.肝活检可发现典型的RS肝病表现。
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瑞氏综合征@【诊断】目前临床最常用的标准为美国疾病控制中心(CDC)所制定的诊断标准。
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瑞氏综合征@主要包括:①急性非炎症性脑病(意识障碍,CSF除外中枢神经系统感染,或组织学证实)。
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瑞氏综合征@②血清GOT、GPT增高2~3倍以上血氨增高,急性脂肪肝。
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瑞氏综合征@可伴有血乳酸及丙酮酸增高凝血酶原降低CK升高婴幼儿常出现低血糖。
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瑞氏综合征@③除外其他类似疾病,如急性中毒、遗传代谢病以及暴发性肝炎等。
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瑞氏综合征@如符合上述临床诊断标准而未做肝活检或尸检者称为临床诊断的RS(CRS)。
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瑞氏综合征@如果肝活检或尸检符合RS诊断标准,则称之为确诊的RS(DRS)。
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瑞氏综合征@RS的症状可发生于很多类似于RS的疾病。
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瑞氏综合征@因此需鉴别除外的疾病很多,如急性中枢神经系统感染、中毒性脑病以及遗传代谢病等。
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瑞氏综合征@由于上述RS诊断标准是非特异性的,甚至光镜呈“急性脂肪肝”,也无特异性,因此应尽可能行肝活检,电镜下观察肝细胞线粒体的改变以确定诊断。
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瑞氏综合征@肝活检应争取在起病后4~5日内进行,尸检标本不适于线粒体形态学或有关代谢的检查。
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瑞氏综合征@【治疗】本病预后不良,早期认识轻症患儿并给予及时治疗是争取改善预后的关键。
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瑞氏综合征@一旦出现严重的意识障碍则有很高的死亡率,幸存者也往往出现严重的神经系统后遗症。
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瑞氏综合征@迄今对RS的治疗尚缺乏特效疗法,以病情监护以及维持内环境稳定、降低颅内压、止惊、控制低血糖控制低血糖和凝血障碍等对症治疗为主。
[ { "id": 0, "entity": "瑞氏综合征", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "RS", "start_offset": 9, "end_offset": 11, "label": "dis" }, { "id": 2, "entity": "颅内压", "start_offset": 39, "end_offset": 42, "label": "ite" ...
瑞氏综合征@控制致命的脑水肿最为关键,可合用甘露醇、呋塞米及皮质激素。
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瑞氏综合征@适量输入葡萄糖和胰岛素,补充肉碱及瓜氨酸有助于缓解肝病进展。
[ { "id": 0, "entity": "瑞氏综合征", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "葡萄糖", "start_offset": 10, "end_offset": 13, "label": "dru" }, { "id": 2, "entity": "胰岛素", "start_offset": 14, "end_offset": 17, "label": "dru"...
瑞氏综合征@(秦炯)。
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第五章尿路感染尿路感染(urinarytractinfection,UTI)简称尿感,是指病原微生物入侵泌尿系统并在尿中繁殖,侵入泌尿道黏膜或组织引起炎症反应。
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根据1986年全国21个省市224291例健康小儿尿筛查的结果,尿感发病率为8.25%。
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上尿路感染的危害较大,以婴幼儿发病率最高,反复感染可形成肾疤痕,严重者可致继发性高血压和慢性肾衰竭。
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【病因和发病机制】(一)病因各种病原微生物即为尿感的病因,大肠杆菌占75%~90%,其次为肺炎克雷伯杆菌、变形杆菌、产气杆菌和产碱杆菌,近年来革兰阳性球菌的比例升高,如肠链球菌和葡萄球菌。
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(二)发病机制主要通过上行和血行感染,邻近器官感染的直接侵犯少见。
[ { "id": 0, "entity": "上行和血行感染", "start_offset": 11, "end_offset": 18, "label": "sym" }, { "id": 1, "entity": "邻近器官感染", "start_offset": 19, "end_offset": 25, "label": "sym" } ]
正常泌尿道通过以下机制有抗感染作用:①定期排尿将细菌冲洗出尿道;②尿中有IgA、溶菌酶及有机酸等抗菌物质;③泌尿道黏膜产生的分泌型IgA及膀胱黏膜移行上皮细胞分泌的黏附分子(mucin),可有效减少细菌的黏附,所以只有在诱因存在,才为易发尿感的原因。
[ { "id": 0, "entity": "泌尿道", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "感染", "start_offset": 13, "end_offset": 15, "label": "dis" }, { "id": 2, "entity": "尿", "start_offset": 33, "end_offset": 34, "label": "bod" },...
1.上行感染正常小儿尿道有少许细菌存在,当机体抵抗力下降或尿道黏膜损伤时,细菌可入侵或沿尿道上行,引起膀胱、肾盂和肾间质的感染。
[ { "id": 0, "entity": "上行感染", "start_offset": 2, "end_offset": 6, "label": "sym" }, { "id": 1, "entity": "尿道", "start_offset": 10, "end_offset": 12, "label": "bod" }, { "id": 2, "entity": "细菌", "start_offset": 15, "end_offset": 17, "label": "mic" ...
正常输尿管蠕动可使尿液注入膀胱。
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女孩尿道短,上行感染机会比男孩多。
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婴儿用尿布,外阴容易受粪便污染是婴幼儿容易发生上行性感染的原因之一,以下因素可促发上行感染:(1)小儿解剖生理特点:小儿输尿管长而弯曲,管壁肌肉弹力纤维发育不全,蠕动力弱,易于扩张,尿流不畅。
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(2)膀胱输尿管反流(vesico-ureteralreflux,VUR):输尿管分腹段、盆腔段和膀胱段,正常输尿管进入膀胱呈一钝角,向内向下进入膀胱壁有一定的斜度和长度,输尿管膀胱连接处是由肌肉筋膜鞘组成,输尿管膀胱开口呈斜行裂隙状,起瓣膜作用。
[ { "id": 0, "entity": "膀胱输尿管反流", "start_offset": 3, "end_offset": 10, "label": "dis" }, { "id": 1, "entity": "vesico-ureteralreflux", "start_offset": 11, "end_offset": 32, "label": "dis" }, { "id": 2, "entity": "VUR", "start_offset": 33, "end_offset": 3...
当输尿管进入膀胱的角度改变、在膀胱壁内行程太短、输尿管末端环形和纵行肌纤维数量和分布异常或输尿管膀胱开口的先天异常,以及脊髓脊膜膨出所致的神经源性膀胱均可引起输尿管膀胱反流。
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婴儿期下尿道神经发育不成熟,在膀胱充盈期和排尿期产生的逼尿肌功能亢进,使膀胱内压增高,改变了膀胱壁和输尿管交界处的解剖关系也引起VUR,但为暂时性。
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尿液反流分5级。
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Ⅰ级:反流仅见于输尿管;Ⅱ级:反流至肾盂及肾盏;Ⅲ级:输尿管轻~中度扩张与扭曲,肾盏中度扩张,穹隆无或轻度变钝;Ⅳ级:输尿管中度扩张,穹隆角完全消失;Ⅴ级:输尿管显著扩张与扭曲,肾盂肾盏显著扩张,多数肾盏不见乳头压迹。
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尿液反流的危害在于可造成上行性尿感反复发作,引起肾疤痕,而且,Ⅲ级以上的尿液反流也可因肾盏内压力过高引起肾内反流和肾间质损害。
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两者同时或单独存在均可致慢性肾衰竭。
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(3)其他先天畸形和尿路梗阻:如肾盂输尿管连接处狭窄、肾盂积水、后尿道瓣膜及多囊肾等均可使引流不畅而继发感染。
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此外,还可由神经源性膀胱、结石及肿瘤等引起梗阻。
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(4)病原菌的致病力也是影响尿感的主要因素,以大肠杆菌为例,其菌体抗原和荚膜抗原K是决定大肠杆菌尿路致病性的必要条件。
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此外,大肠杆菌菌体表面有许多P菌毛,能表达黏附素。
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能特异地与泌尿道上皮细胞表面的特异受体结合,使菌体紧密黏附于泌尿道上皮,避免被尿液冲洗,得以在局部繁殖,引起上行感染。
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2.血行感染在败血症或其他病灶引起的菌血症时,细菌经血流进入肾皮质和肾盂引起尿感。
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血行感染以新生儿多见。
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【临床表现】因年龄和尿感部位不同而异,主要有三种表现形式:即肾盂肾炎、膀胱炎和无症状性菌尿。
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(一)肾盂肾炎婴幼儿占多数,以全身感染中毒症状为主要表现,常有38.5℃以上的发热,高热时可有惊厥或寒战。
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(二)膀胱炎大多为年长女孩,有尿频、尿急、排尿困难、排尿不尽、下腹不适、耻骨上区疼痛及尿失禁的症状,有时尿恶臭,有外阴部湿疹。
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膀胱炎一般不引起发热。
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(三)无症状性菌尿无症状性菌尿指小儿尿培养阳性而无任何感染的临床症状。
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几乎全是女孩,但若不治疗可能发展为有症状的尿路感染。
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【实验室检查】(一)血液检查急性肾盂肾炎常有血白细胞总数和中性粒细胞比例明显增高、血沉增快、C反应蛋白>20mg/L。
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膀胱炎时上述实验指标多正常。
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(二)尿常规检查清洁中段尿离心镜检中WBC≥5/HP提示尿路感染,若见白细胞管型,提示肾盂肾炎。
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肾乳头或膀胱炎可有明显血尿。
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尿路炎症严重者,可有短暂明显的蛋白尿。
[ { "id": 0, "entity": "尿路炎症", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "短暂明显的蛋白尿", "start_offset": 10, "end_offset": 18, "label": "sym" } ]
部分患儿可有血尿或终末血尿。
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(三)细菌学检查尿培养因可受前尿道和尿道周围杂菌的污染,故需在治疗前做清洁中段尿培养及菌落计数,若菌落计数≥105</sup>/ml有诊断意义,104</sup>~105</sup>/ml为可疑。
[ { "id": 0, "entity": "细菌学检查", "start_offset": 3, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "尿培养", "start_offset": 8, "end_offset": 11, "label": "ite" }, { "id": 2, "entity": "前尿道", "start_offset": 14, "end_offset": 17, "label": "bod" ...
但已有膀胱炎尿路刺激症状的患者,尿白细胞明显增多,尿培养菌落计数为103</sup>~104</sup>/ml亦应考虑尿感的诊断,此外,某些革兰阳性球菌如肠链球菌分裂慢,如为103</sup>/ml亦可诊断尿感。
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对婴幼儿和新生儿以及怀疑尿感而留尿困难的小儿,可作耻骨上膀胱穿刺培养,阳性培养即有诊断意义。
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留做细菌培养的尿若不能及时送验时,应暂放4℃冰箱内,否则会影响结果。
[ { "id": 0, "entity": "细菌培养", "start_offset": 2, "end_offset": 6, "label": "pro" } ]
有发热的尿感应同时做血培养。
[ { "id": 0, "entity": "发热", "start_offset": 1, "end_offset": 3, "label": "sym" }, { "id": 1, "entity": "尿感", "start_offset": 4, "end_offset": 6, "label": "dis" }, { "id": 2, "entity": "血培养", "start_offset": 10, "end_offset": 13, "label": "ite" } ]
大量利尿或已应用抗菌治疗则影响尿培养的结果。
[ { "id": 0, "entity": "抗菌治疗", "start_offset": 8, "end_offset": 12, "label": "pro" }, { "id": 1, "entity": "尿培养", "start_offset": 15, "end_offset": 18, "label": "ite" } ]
尿培养如阳性,应作药物敏感试验,指导治疗。
[ { "id": 0, "entity": "尿培养", "start_offset": 0, "end_offset": 3, "label": "ite" }, { "id": 1, "entity": "药物敏感试验", "start_offset": 9, "end_offset": 15, "label": "pro" } ]
(四)尿直接涂片找细菌用一滴均匀新鲜尿液置玻片上烘干,用美蓝或革兰染色,在高倍或油镜下每视野若见到细菌≥1个,表示尿内菌落计数>105</sup>/ml。
[ { "id": 0, "entity": "尿直接涂片找细菌", "start_offset": 3, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "玻片", "start_offset": 21, "end_offset": 23, "label": "equ" }, { "id": 2, "entity": "高倍或油镜", "start_offset": 37, "end_offset": 42, "label": ...
根据尿沉渣涂片革兰染色及细菌形态,可作为选用药物治疗的参考。
[ { "id": 0, "entity": "尿沉渣涂片革兰染色", "start_offset": 2, "end_offset": 11, "label": "pro" } ]
(五)菌尿辅助检查尿液亚硝酸盐还原试验,可作为过筛检查,阳性率可达80%。
[ { "id": 0, "entity": "菌尿辅助检查", "start_offset": 3, "end_offset": 9, "label": "pro" }, { "id": 1, "entity": "尿液亚硝酸盐还原试验", "start_offset": 9, "end_offset": 19, "label": "pro" } ]