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【临床表现】典型表现为足月男婴,生后3~6周起出现渐进性、非胆汁样喷射性呕吐食物过敏或胃食管反流,直至出现进食后呕吐这一特征性表现,才想到此病。
[ { "id": 0, "entity": "胆汁", "start_offset": 30, "end_offset": 32, "label": "bod" }, { "id": 1, "entity": "渐进性、非胆汁样喷射性呕吐", "start_offset": 25, "end_offset": 38, "label": "sym" }, { "id": 2, "entity": "食物过敏", "start_offset": 38, "end_offset": 42, "label": "dis" }, { "id": 3, "entity": "胃食管反流", "start_offset": 43, "end_offset": 48, "label": "dis" }, { "id": 4, "entity": "进食后呕吐", "start_offset": 53, "end_offset": 58, "label": "sym" } ]
因此,许多患儿就诊时已有严重脱水,但少见营养不良。
[ { "id": 0, "entity": "严重脱水", "start_offset": 12, "end_offset": 16, "label": "dis" }, { "id": 1, "entity": "营养不良", "start_offset": 20, "end_offset": 24, "label": "dis" } ]
血生化指标提示低氯低钾性代谢性碱中毒,病情严重时可出现反常性酸性尿。
[ { "id": 0, "entity": "低氯低钾性代谢性碱中毒", "start_offset": 7, "end_offset": 18, "label": "dis" }, { "id": 1, "entity": "反常性酸性尿", "start_offset": 27, "end_offset": 33, "label": "dis" } ]
临床可见重度低血糖甚至低血糖性抽搐;肝葡萄糖醛酸转移酶活性下降高非结合胆红素血症,可出现黄疸,但一旦胃出口部梗阻解除即好转。
[ { "id": 0, "entity": "重度低血糖", "start_offset": 4, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "低血糖性抽搐", "start_offset": 11, "end_offset": 17, "label": "dis" }, { "id": 2, "entity": "肝葡萄糖醛酸转移酶", "start_offset": 18, "end_offset": 27, "label": "bod" }, { "id": 3, "entity": "肝葡萄糖醛酸转移酶活性下降", "start_offset": 18, "end_offset": 31, "label": "sym" }, { "id": 4, "entity": "高非结合胆红素血症", "start_offset": 31, "end_offset": 40, "label": "dis" }, { "id": 5, "entity": "黄疸", "start_offset": 44, "end_offset": 46, "label": "dis" }, { "id": 6, "entity": "胃出口部梗阻", "start_offset": 50, "end_offset": 56, "label": "dis" } ]
因而有人推测这种现象与胃和肝细胞之间的胃肠激素反馈异常有关。
[ { "id": 0, "entity": "胃", "start_offset": 11, "end_offset": 12, "label": "bod" }, { "id": 1, "entity": "肝细胞", "start_offset": 13, "end_offset": 16, "label": "bod" }, { "id": 2, "entity": "胃肠激素反馈异常", "start_offset": 19, "end_offset": 27, "label": "dis" } ]
【诊断】上腹部触及一小而活动的橄榄样包块触诊方法:两或三个手指轻按上腹,慢慢沿肋缘向肝脏深面触探,接着滑向脐部,此时可感觉到似有橄榄样物在指间滑动。
[ { "id": 0, "entity": "上腹", "start_offset": 4, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "上腹部触及一小而活动的橄榄样包块", "start_offset": 4, "end_offset": 20, "label": "sym" }, { "id": 2, "entity": "触诊", "start_offset": 20, "end_offset": 22, "label": "pro" }, { "id": 3, "entity": "上腹", "start_offset": 33, "end_offset": 35, "label": "bod" }, { "id": 4, "entity": "肋缘", "start_offset": 39, "end_offset": 41, "label": "bod" }, { "id": 5, "entity": "脐部", "start_offset": 53, "end_offset": 55, "label": "bod" }, { "id": 6, "entity": "橄榄样物", "start_offset": 64, "end_offset": 68, "label": "sym" } ]
患儿保持安静合作是触诊探及包块的关键,有时可能耗时较长,甚至15~20分钟,才能摸到肥厚幽门。
[ { "id": 0, "entity": "触诊", "start_offset": 9, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "肥厚幽门", "start_offset": 42, "end_offset": 46, "label": "bod" } ]
有时需置鼻胃管,抽出胃内容物,拔除胃管后再行触诊。
[ { "id": 0, "entity": "鼻胃管", "start_offset": 4, "end_offset": 7, "label": "equ" }, { "id": 1, "entity": "胃内容物", "start_offset": 10, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "胃管", "start_offset": 17, "end_offset": 19, "label": "equ" }, { "id": 3, "entity": "触诊", "start_offset": 22, "end_offset": 24, "label": "pro" } ]
若清楚触及肥厚幽门,即可明确诊断,无需其他检查。
[ { "id": 0, "entity": "肥厚幽门", "start_offset": 5, "end_offset": 9, "label": "bod" } ]
如果未能触及肥厚幽门,而临床症状典型,需进一步行影像学检查以明确之。
[ { "id": 0, "entity": "肥厚幽门", "start_offset": 6, "end_offset": 10, "label": "bod" }, { "id": 1, "entity": "影像学检查", "start_offset": 24, "end_offset": 29, "label": "pro" } ]
诊断HPS的B超影像学指标由Teele和Smit提出,包括:幽门直径≥17mm、幽门壁厚度≥4mm幽门管长度≥17mm,其中后两项更常用。
[ { "id": 0, "entity": "HPS", "start_offset": 2, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "B超影像", "start_offset": 6, "end_offset": 10, "label": "pro" }, { "id": 2, "entity": "幽门直径", "start_offset": 30, "end_offset": 34, "label": "ite" }, { "id": 3, "entity": "幽门直径≥17mm", "start_offset": 30, "end_offset": 39, "label": "sym" }, { "id": 4, "entity": "幽门壁厚", "start_offset": 40, "end_offset": 44, "label": "ite" }, { "id": 5, "entity": "幽门壁厚度≥4mm", "start_offset": 40, "end_offset": 49, "label": "sym" }, { "id": 6, "entity": "幽门管长度", "start_offset": 49, "end_offset": 54, "label": "ite" }, { "id": 7, "entity": "幽门管长度≥17mm", "start_offset": 49, "end_offset": 59, "label": "sym" } ]
30天以内婴儿如果壁厚达3mm就可诊断;若数据模棱两可(如壁厚2~3mm,管长12~16mm测量幽门容积,尤其是在小龄儿中。
[ { "id": 0, "entity": "壁厚达3mm", "start_offset": 9, "end_offset": 15, "label": "sym" }, { "id": 1, "entity": "壁厚", "start_offset": 29, "end_offset": 31, "label": "ite" }, { "id": 2, "entity": "壁厚2~3mm", "start_offset": 29, "end_offset": 36, "label": "sym" }, { "id": 3, "entity": "管长", "start_offset": 37, "end_offset": 39, "label": "ite" }, { "id": 4, "entity": "管长12~16mm", "start_offset": 37, "end_offset": 46, "label": "sym" }, { "id": 5, "entity": "测量幽门容积", "start_offset": 46, "end_offset": 52, "label": "pro" } ]
如果B超无法明确诊断,需行上消化道钡餐检查。
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透视下可见幽门管狭窄、延长两侧肥厚幽门壁呈特征性的唇样结构凸入胃腔HPS患儿病程尚短,无脱水表现,血浆电解质、血糖水平及尿量正常,可立即手术。
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但许多患儿就诊时已存在较严重的脱水、低糖及低钾等,需术前积极准备24~48小时,调节水电解质平衡。
[ { "id": 0, "entity": "脱水", "start_offset": 15, "end_offset": 17, "label": "dis" }, { "id": 1, "entity": "低糖", "start_offset": 18, "end_offset": 20, "label": "dis" }, { "id": 2, "entity": "水电解质", "start_offset": 42, "end_offset": 46, "label": "bod" } ]
首先应立即静脉推注等渗Ringer液(10~20ml/kg),纠治严重脱水所致低灌注情况,直至血流动力学指标恢复正常。
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轻、中度的水电解质失衡可静脉输注5%葡萄糖与0.45%NaCl混合液,速度为维持速度的1.5倍。
[ { "id": 0, "entity": "轻、中度的水电解质失衡", "start_offset": 0, "end_offset": 11, "label": "dis" }, { "id": 1, "entity": "静脉输注", "start_offset": 12, "end_offset": 16, "label": "pro" }, { "id": 2, "entity": "葡萄糖", "start_offset": 18, "end_offset": 21, "label": "dru" }, { "id": 3, "entity": "NaCl混合液", "start_offset": 27, "end_offset": 34, "label": "dru" } ]
因患儿多有低钾和低氯,维持液中应常规添加氯化钾(浓度20~40mmol/L)。
[ { "id": 0, "entity": "低钾", "start_offset": 5, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "低氯", "start_offset": 8, "end_offset": 10, "label": "dis" }, { "id": 2, "entity": "氯化钾", "start_offset": 20, "end_offset": 23, "label": "dis" } ]
需要特别指出的是,碱中毒时,机体细胞外钾代偿性转移至细胞内,因此测得血钾水平低于体内实际水平。
[ { "id": 0, "entity": "碱中毒", "start_offset": 9, "end_offset": 12, "label": "dis" }, { "id": 1, "entity": "机体细胞", "start_offset": 14, "end_offset": 18, "label": "bod" }, { "id": 2, "entity": "钾", "start_offset": 19, "end_offset": 20, "label": "bod" }, { "id": 3, "entity": "细胞内", "start_offset": 26, "end_offset": 29, "label": "bod" }, { "id": 4, "entity": "血钾水平", "start_offset": 34, "end_offset": 38, "label": "ite" } ]
一旦循环总量、尿量、血钾及血氯恢复正常,血浆浓度低于30mmol/L,即可安全手术。
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术中正确判断十二指肠边界很重要,因十二指肠黏液呈唇样向幽门远端凸出,若切口过分靠近幽门远端,一旦切入过深,可能损伤十二指肠。
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无并发症的H.Pyloris术后处理比较简单,6~8小时可进少量糖水,每隔3小时逐渐增加量与浓度,直至开奶。
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手术48小时后仍持续呕吐者少见,此时应考虑是否存在环肌切开不彻底或穿孔可能,消化道造影或B超检查对明确环肌切开是否彻底意义不大,因为环肌切开术前后的幽门超声与其他影像学表现基本相同,但造影可排除黏膜破裂致幽门内液体外溢压迫胃出口可能。
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如果既无穿孔又无完全性梗阻,应考虑可能存在环肌切开不全引起的不全梗阻,此时应至少等待2周再做探查。
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充分的术前准备与补液治疗,专业麻醉与标准术式,大大降低了该病死亡率。
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虽然不同作者报道的十二指肠穿孔率从3%~30%不等,但少有超过10%。
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切口感染与裂开曾是严重并发症,如今已相当少见。
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研究表明:曾经接受幽门环肌切开术的HPS患儿,数十年后,其胃排空及腹部情况无异于正常对照组。
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第五节腹膜透析腹膜透析(peritonealdialysis,PD)是肾替代疗法的重要形式之一,主要用于儿童的急、慢性肾衰竭,急性药物或毒物中毒,严重的感染及败血症等疾病的治疗。
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儿童腹膜对于中小分子物质的通透性与成人相似,但由于儿童腹膜面积相对较大,又无成年人血管硬化所致腹膜毛细血管的改变,因此儿童腹膜透析对溶质清除较成人充分。
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1978年,加拿大的一位3岁女孩成为世界上第一位接受连续性非卧床腹膜透析(CAPD)治疗的患儿,1981年当循环腹膜透析机治疗成人后,很快用于患儿,它能更有效地清除尿毒症的毒素及水分,纠正水电解质紊乱及代谢性酸中毒,并为患儿创造了等待肾脏移植的机会。
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根据北美、欧洲等许多发达国家报道,已经成为15岁以下慢性肾衰患儿最常用的透析方式。
[ { "id": 0, "entity": "慢性肾衰", "start_offset": 26, "end_offset": 30, "label": "dis" }, { "id": 1, "entity": "透析", "start_offset": 36, "end_offset": 38, "label": "pro" } ]
一、腹膜透析的适应证和禁忌证(一)适应证1.急性肾衰竭有以下指征之一,即应早期积极透析:①出现尿毒症症状,如恶心、呕吐和嗜睡;②有重度水肿、心力衰竭、胸腹水等严重水、钠潴留;③血钾>6.5mmol/L;④血BUN>28.4mmol/L;⑤血二氧化碳结合力<7mmol/L。
[ { "id": 0, "entity": "腹膜透析", "start_offset": 2, "end_offset": 6, "label": "pro" }, { "id": 1, "entity": "急性肾衰竭", "start_offset": 22, "end_offset": 27, "label": "dis" }, { "id": 2, "entity": "尿毒症", "start_offset": 47, "end_offset": 50, "label": "dis" }, { "id": 3, "entity": "恶心", "start_offset": 54, "end_offset": 56, "label": "sym" }, { "id": 4, "entity": "呕吐", "start_offset": 57, "end_offset": 59, "label": "sym" }, { "id": 5, "entity": "嗜睡", "start_offset": 60, "end_offset": 62, "label": "sym" }, { "id": 6, "entity": "水肿", "start_offset": 67, "end_offset": 69, "label": "sym" }, { "id": 7, "entity": "心力衰竭", "start_offset": 70, "end_offset": 74, "label": "sym" }, { "id": 8, "entity": "胸腹水", "start_offset": 75, "end_offset": 78, "label": "sym" }, { "id": 9, "entity": "钠潴留", "start_offset": 83, "end_offset": 86, "label": "sym" }, { "id": 10, "entity": "血钾", "start_offset": 88, "end_offset": 90, "label": "ite" }, { "id": 11, "entity": "血BUN", "start_offset": 102, "end_offset": 106, "label": "ite" }, { "id": 12, "entity": "血二氧化碳结合力", "start_offset": 119, "end_offset": 127, "label": "ite" } ]
2.慢性肾衰竭患儿出现以下临床和生化指征时,要考虑腹膜透析:①出现少尿、肾性贫血或中度以上高血压;②出现明显水肿、腹水等水钠潴留表现;③严重恶心、呕吐等尿毒症症状;④肾小球滤过率GFR<5~10ml/(min•1.73m2</sup>)。
[ { "id": 0, "entity": "慢性肾衰竭", "start_offset": 2, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "腹膜透析", "start_offset": 25, "end_offset": 29, "label": "pro" }, { "id": 2, "entity": "少尿", "start_offset": 33, "end_offset": 35, "label": "sym" }, { "id": 3, "entity": "肾性贫血", "start_offset": 36, "end_offset": 40, "label": "sym" }, { "id": 4, "entity": "高血压", "start_offset": 45, "end_offset": 48, "label": "sym" }, { "id": 5, "entity": "腹水", "start_offset": 57, "end_offset": 59, "label": "sym" }, { "id": 6, "entity": "水钠潴留", "start_offset": 60, "end_offset": 64, "label": "sym" }, { "id": 7, "entity": "恶心", "start_offset": 70, "end_offset": 72, "label": "sym" }, { "id": 8, "entity": "呕吐", "start_offset": 73, "end_offset": 75, "label": "sym" }, { "id": 9, "entity": "尿毒症", "start_offset": 76, "end_offset": 79, "label": "dis" }, { "id": 10, "entity": "肾小球", "start_offset": 83, "end_offset": 86, "label": "bod" }, { "id": 11, "entity": "GFR", "start_offset": 89, "end_offset": 92, "label": "ite" } ]
3.各种原因所致严重水、电解质紊乱,经一般治疗无效。
[ { "id": 0, "entity": "水、电解质紊乱", "start_offset": 10, "end_offset": 17, "label": "sym" } ]
4.多种毒物或药物中毒,严重感染合并多脏器衰竭等。
[ { "id": 0, "entity": "毒物或药物中毒", "start_offset": 4, "end_offset": 11, "label": "dis" } ]
(二)禁忌证1.绝对禁忌证①腹腔内广泛粘连;②腹腔或腹壁广泛感染;③严重胀气或大胀气或大量腹水.相对禁忌证①腹部手术3天内;②腹腔内有局限性炎性病灶,而腹透可使炎症扩散;③长期蛋白质和热量摄入不足者;④严重的呼吸功能不全。
[ { "id": 0, "entity": "腹腔", "start_offset": 14, "end_offset": 16, "label": "bod" }, { "id": 1, "entity": "胀气或大量腹水", "start_offset": 40, "end_offset": 47, "label": "sym" }, { "id": 2, "entity": "腹部", "start_offset": 54, "end_offset": 56, "label": "bod" }, { "id": 3, "entity": "腹透", "start_offset": 76, "end_offset": 78, "label": "pro" }, { "id": 4, "entity": "炎症", "start_offset": 80, "end_offset": 82, "label": "dis" }, { "id": 5, "entity": "蛋白质", "start_offset": 88, "end_offset": 91, "label": "bod" }, { "id": 6, "entity": "呼吸功能不全", "start_offset": 104, "end_offset": 110, "label": "sym" } ]
第三节期前收缩期前收缩由异位起搏点发出冲动所致。
[ { "id": 0, "entity": "期前收缩", "start_offset": 3, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "期前收缩", "start_offset": 7, "end_offset": 11, "label": "dis" }, { "id": 2, "entity": "异位起搏点", "start_offset": 12, "end_offset": 17, "label": "bod" } ]
在某些情况下,期前收缩可由器质性心脏病(炎症、缺血、纤维化等)或引起,特别是洋地黄类。
[ { "id": 0, "entity": "期前收缩", "start_offset": 7, "end_offset": 11, "label": "dis" }, { "id": 1, "entity": "心脏病", "start_offset": 16, "end_offset": 19, "label": "dis" }, { "id": 2, "entity": "炎症", "start_offset": 20, "end_offset": 22, "label": "sym" }, { "id": 3, "entity": "缺血", "start_offset": 23, "end_offset": 25, "label": "sym" }, { "id": 4, "entity": "纤维化", "start_offset": 26, "end_offset": 29, "label": "sym" }, { "id": 5, "entity": "洋地黄类", "start_offset": 38, "end_offset": 42, "label": "dru" } ]
如房性期前收缩落在前一QRS波群的不应期,则其后无QRS波群。
[ { "id": 0, "entity": "房性期前收缩", "start_offset": 1, "end_offset": 7, "label": "dis" } ]
房性期前收缩必须与室性期前收缩区别。
[ { "id": 0, "entity": "房性期前收缩", "start_offset": 0, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "室性期前收缩", "start_offset": 9, "end_offset": 15, "label": "dis" } ]
房性期前收缩时,提前出现的QRS波群前有P波,其形态与正常窦性P波不同。
[ { "id": 0, "entity": "房性期前收缩", "start_offset": 0, "end_offset": 6, "label": "dis" } ]
房性期前收缩常重新调整窦房结起搏点计时,因而其后代偿间隙不完全。
[ { "id": 0, "entity": "房性期前收缩", "start_offset": 0, "end_offset": 6, "label": "dis" } ]
室性期前收缩常有完全性代偿间隙,但这不是可靠的鉴别标准。
[ { "id": 0, "entity": "室性期前收缩", "start_offset": 0, "end_offset": 6, "label": "dis" } ]
如形态不一,且联律间期不等,则称之为多源性室性期前收缩。
[ { "id": 0, "entity": "多源性室性期前收缩", "start_offset": 18, "end_offset": 27, "label": "dis" } ]
室性期前收缩后常为完全性代偿间隙。
[ { "id": 0, "entity": "室性期前收缩", "start_offset": 0, "end_offset": 6, "label": "dis" } ]
室性融合波的存在也提示着期前收缩起源于心室。
[ { "id": 0, "entity": "期前收缩", "start_offset": 12, "end_offset": 16, "label": "dis" }, { "id": 1, "entity": "心室", "start_offset": 19, "end_offset": 21, "label": "bod" } ]
室性期前收缩时搏量减少,如期前收缩提得很前,听诊器可听不到,桡动脉处也不能扪及。
[ { "id": 0, "entity": "室性期前收缩", "start_offset": 0, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "期前收缩", "start_offset": 13, "end_offset": 17, "label": "dis" }, { "id": 2, "entity": "听诊器", "start_offset": 22, "end_offset": 25, "label": "equ" }, { "id": 3, "entity": "桡动脉", "start_offset": 30, "end_offset": 33, "label": "bod" } ]
第十章生殖细胞性肿瘤生殖细胞性肿瘤(germcelltumor)是指由原始多潜能生殖细胞在分化、成熟和移行过程中形成的一组肿瘤,其原发部位及临床表现不一。
[ { "id": 0, "entity": "生殖细胞性肿瘤", "start_offset": 3, "end_offset": 10, "label": "dis" }, { "id": 1, "entity": "生殖细胞性肿瘤", "start_offset": 10, "end_offset": 17, "label": "dis" }, { "id": 2, "entity": "germcelltumor", "start_offset": 18, "end_offset": 31, "label": "dis" }, { "id": 3, "entity": "生殖细胞", "start_offset": 40, "end_offset": 44, "label": "bod" }, { "id": 4, "entity": "肿瘤", "start_offset": 61, "end_offset": 63, "label": "dis" } ]
15岁以下儿童生殖细胞性肿瘤发病率为2.4/100万,约占同年龄组儿童肿瘤的1%。
[ { "id": 0, "entity": "儿童生殖细胞性肿瘤", "start_offset": 5, "end_offset": 14, "label": "dis" }, { "id": 1, "entity": "儿童肿瘤", "start_offset": 33, "end_offset": 37, "label": "dis" } ]
【起源】胚胎发育第4周在卵黄囊区可见未分化的、无性别差异的胚胎性生殖腺,此后原始的生殖腺从卵黄囊移行至后腹膜的生殖脊,受性染色体信息指令调控发育成熟为卵巢或睾丸并渐分别下降至盆腔、阴囊。
[ { "id": 0, "entity": "胚胎", "start_offset": 4, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "卵黄囊区", "start_offset": 12, "end_offset": 16, "label": "bod" }, { "id": 2, "entity": "生殖腺", "start_offset": 32, "end_offset": 35, "label": "bod" }, { "id": 3, "entity": "生殖腺", "start_offset": 41, "end_offset": 44, "label": "bod" }, { "id": 4, "entity": "卵黄囊", "start_offset": 45, "end_offset": 48, "label": "bod" }, { "id": 5, "entity": "腹膜", "start_offset": 52, "end_offset": 54, "label": "bod" }, { "id": 6, "entity": "生殖脊", "start_offset": 55, "end_offset": 58, "label": "bod" }, { "id": 7, "entity": "性染色体", "start_offset": 60, "end_offset": 64, "label": "bod" }, { "id": 8, "entity": "卵巢", "start_offset": 75, "end_offset": 77, "label": "bod" }, { "id": 9, "entity": "睾丸", "start_offset": 78, "end_offset": 80, "label": "bod" }, { "id": 10, "entity": "盆腔", "start_offset": 87, "end_offset": 89, "label": "bod" }, { "id": 11, "entity": "阴囊", "start_offset": 90, "end_offset": 92, "label": "bod" } ]
原始生殖腺可发生异位移行,如移行至松果体、纵隔、后腹膜、骶尾部等。
[ { "id": 0, "entity": "原始生殖腺", "start_offset": 0, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "松果体", "start_offset": 17, "end_offset": 20, "label": "bod" }, { "id": 2, "entity": "纵隔", "start_offset": 21, "end_offset": 23, "label": "bod" }, { "id": 3, "entity": "后腹膜", "start_offset": 24, "end_offset": 27, "label": "bod" }, { "id": 4, "entity": "骶尾部", "start_offset": 28, "end_offset": 31, "label": "bod" } ]
因此生殖细胞性肿瘤可发生于任何一个原始生殖腺正常或异位移行的部位。
[ { "id": 0, "entity": "生殖细胞性肿瘤", "start_offset": 2, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "原始生殖腺", "start_offset": 17, "end_offset": 22, "label": "bod" } ]
(图11-4)示生殖细胞性肿瘤的组织起源。
[ { "id": 0, "entity": "生殖细胞性肿瘤", "start_offset": 8, "end_offset": 15, "label": "dis" } ]
图11-4生殖细胞性肿瘤的组织起源【病理】(一)组织学分类儿童性腺及性腺外生殖细胞性肿瘤的组织学分类如下。
[ { "id": 0, "entity": "生殖细胞性肿瘤", "start_offset": 5, "end_offset": 12, "label": "dis" }, { "id": 1, "entity": "儿童性腺及性腺外生殖细胞性肿瘤", "start_offset": 29, "end_offset": 44, "label": "dis" } ]
1.卵巢原发(1)生殖细胞性:无性生殖细胞性;内胚窦瘤(卵黄囊瘤);畸胎瘤(成熟、未成熟、恶性);胚胎性癌;恶性混合性生殖细胞瘤;多胚瘤;绒毛膜癌;生殖腺母细胞瘤。
[ { "id": 0, "entity": "卵巢", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "内胚窦瘤", "start_offset": 23, "end_offset": 27, "label": "dis" }, { "id": 2, "entity": "卵黄囊瘤", "start_offset": 28, "end_offset": 32, "label": "dis" }, { "id": 3, "entity": "畸胎瘤", "start_offset": 34, "end_offset": 37, "label": "dis" }, { "id": 4, "entity": "胚胎性癌", "start_offset": 49, "end_offset": 53, "label": "dis" }, { "id": 5, "entity": "恶性混合性生殖细胞瘤", "start_offset": 54, "end_offset": 64, "label": "dis" }, { "id": 6, "entity": "多胚瘤", "start_offset": 65, "end_offset": 68, "label": "dis" }, { "id": 7, "entity": "绒毛膜癌", "start_offset": 69, "end_offset": 73, "label": "dis" }, { "id": 8, "entity": "生殖腺母细胞瘤", "start_offset": 74, "end_offset": 81, "label": "dis" } ]
2.睾丸原发(1)生殖细胞性:内胚窦瘤(卵黄囊瘤);畸胎瘤(成熟、未成熟、恶性);胚胎性癌;生殖腺母细胞瘤;其他如恶性混合性生殖细胞瘤、精原细胞瘤、绒毛膜癌。
[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "内胚窦瘤", "start_offset": 15, "end_offset": 19, "label": "dis" }, { "id": 2, "entity": "卵黄囊瘤", "start_offset": 20, "end_offset": 24, "label": "dis" }, { "id": 3, "entity": "畸胎瘤", "start_offset": 26, "end_offset": 29, "label": "dis" }, { "id": 4, "entity": "胚胎性癌", "start_offset": 41, "end_offset": 45, "label": "dis" }, { "id": 5, "entity": "生殖腺母细胞瘤", "start_offset": 46, "end_offset": 53, "label": "dis" }, { "id": 6, "entity": "恶性混合性生殖细胞瘤", "start_offset": 57, "end_offset": 67, "label": "dis" }, { "id": 7, "entity": "精原细胞瘤", "start_offset": 68, "end_offset": 73, "label": "dis" }, { "id": 8, "entity": "绒毛膜癌", "start_offset": 74, "end_offset": 78, "label": "dis" } ]
(2)非生殖细胞性:性索-基质性肿瘤。
[ { "id": 0, "entity": "性索-基质性肿瘤", "start_offset": 10, "end_offset": 18, "label": "dis" } ]
3.生殖腺外生殖细胞瘤畸胎瘤(骶尾部、纵隔、后腹膜、松果体等):+/-卵黄囊瘤成分;+/-胚胎性癌成分。
[ { "id": 0, "entity": "生殖腺外生殖细胞瘤畸胎瘤", "start_offset": 2, "end_offset": 14, "label": "dis" }, { "id": 1, "entity": "骶尾部", "start_offset": 15, "end_offset": 18, "label": "bod" }, { "id": 2, "entity": "纵隔", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "后腹膜", "start_offset": 22, "end_offset": 25, "label": "bod" }, { "id": 4, "entity": "松果体", "start_offset": 26, "end_offset": 29, "label": "bod" }, { "id": 5, "entity": "+/-卵黄囊瘤", "start_offset": 32, "end_offset": 39, "label": "dis" }, { "id": 6, "entity": "+/-胚胎性癌", "start_offset": 42, "end_offset": 49, "label": "dis" } ]
(二)病理学特征1.同一类型的生殖细胞性肿瘤在生殖腺内和生殖腺外不同部位的病理形态学表现一致。
[ { "id": 0, "entity": "生殖细胞性肿瘤", "start_offset": 15, "end_offset": 22, "label": "dis" }, { "id": 1, "entity": "生殖腺", "start_offset": 23, "end_offset": 26, "label": "bod" }, { "id": 2, "entity": "生殖腺", "start_offset": 28, "end_offset": 31, "label": "bod" } ]
2.肿瘤可同时包含良性和恶性成分,其恶性成分决定它的临床特征。
[ { "id": 0, "entity": "肿瘤", "start_offset": 2, "end_offset": 4, "label": "dis" } ]
同一肿瘤的不同部位有不同的细胞成分,因此需作多层次病理切片以避免诊断误差。
[ { "id": 0, "entity": "肿瘤", "start_offset": 2, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "细胞", "start_offset": 13, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "病理切片", "start_offset": 25, "end_offset": 29, "label": "pro" } ]
【临床表现】生殖细胞性肿瘤在出生后至青少年期均可发病,但以婴幼儿、学龄前期发病较为多见。
[ { "id": 0, "entity": "生殖细胞性肿瘤", "start_offset": 6, "end_offset": 13, "label": "dis" } ]
不同的发病部位有不同的临床表现,常因可扪及肿块或增大的肿块产生压迫症状而就诊。
[ { "id": 0, "entity": "肿块", "start_offset": 21, "end_offset": 23, "label": "bod" }, { "id": 1, "entity": "肿块", "start_offset": 27, "end_offset": 29, "label": "bod" }, { "id": 2, "entity": "可扪及肿块或增大的肿块产生压迫症状", "start_offset": 18, "end_offset": 35, "label": "sym" } ]
当肿瘤原发于骶尾部或盆腔并压迫直肠及尿路时发生大小便习惯改变,骶尾部外形改变或不对称骶尾部睾丸肿块较易早期发现,睾丸不对称肿大、硬卵巢肿块早期无症状而不易发现,常在腹围增大或扪及腹块时才就诊,卵巢肿块扭转可因急腹痛而就诊。
[ { "id": 0, "entity": "肿瘤", "start_offset": 1, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "骶尾部", "start_offset": 6, "end_offset": 9, "label": "bod" }, { "id": 2, "entity": "盆腔", "start_offset": 10, "end_offset": 12, "label": "bod" }, { "id": 3, "entity": "直肠", "start_offset": 15, "end_offset": 17, "label": "bod" }, { "id": 4, "entity": "尿路", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 5, "entity": "发生大小便习惯改变", "start_offset": 21, "end_offset": 30, "label": "sym" }, { "id": 6, "entity": "骶尾部", "start_offset": 31, "end_offset": 34, "label": "bod" }, { "id": 7, "entity": "骶尾部外形改变或不对称", "start_offset": 31, "end_offset": 42, "label": "sym" }, { "id": 8, "entity": "骶尾部", "start_offset": 42, "end_offset": 45, "label": "bod" }, { "id": 9, "entity": "睾丸肿块", "start_offset": 45, "end_offset": 49, "label": "bod" }, { "id": 10, "entity": "骶尾部睾丸肿块", "start_offset": 42, "end_offset": 49, "label": "sym" }, { "id": 11, "entity": "睾丸", "start_offset": 56, "end_offset": 58, "label": "bod" }, { "id": 12, "entity": "睾丸不对称肿大、硬", "start_offset": 56, "end_offset": 65, "label": "sym" }, { "id": 13, "entity": "卵巢", "start_offset": 65, "end_offset": 67, "label": "bod" }, { "id": 14, "entity": "腹围增大或扪及腹块", "start_offset": 82, "end_offset": 91, "label": "sym" }, { "id": 15, "entity": "卵巢肿块", "start_offset": 96, "end_offset": 100, "label": "bod" }, { "id": 16, "entity": "急腹痛", "start_offset": 104, "end_offset": 107, "label": "dis" } ]
原发于纵隔的肿块可压迫血管或气道,产生上腔静脉压迫综合征及呼吸道压迫症状晚期肿瘤出现全身症状,如消瘦、发热、贫血及胸腹水等。
[ { "id": 0, "entity": "纵隔", "start_offset": 3, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "肿块", "start_offset": 6, "end_offset": 8, "label": "bod" }, { "id": 2, "entity": "血管", "start_offset": 11, "end_offset": 13, "label": "bod" }, { "id": 3, "entity": "气道", "start_offset": 14, "end_offset": 16, "label": "bod" }, { "id": 4, "entity": "上腔静脉压迫综合征", "start_offset": 19, "end_offset": 28, "label": "dis" }, { "id": 5, "entity": "产生上腔静脉压迫综合征及呼吸道压迫症状", "start_offset": 17, "end_offset": 36, "label": "sym" }, { "id": 6, "entity": "晚期肿瘤", "start_offset": 36, "end_offset": 40, "label": "dis" }, { "id": 7, "entity": "消瘦", "start_offset": 48, "end_offset": 50, "label": "sym" }, { "id": 8, "entity": "发热", "start_offset": 51, "end_offset": 53, "label": "sym" }, { "id": 9, "entity": "贫血及胸腹水等", "start_offset": 54, "end_offset": 61, "label": "sym" } ]
【实验室检查】(一)血液生化检查可作为辅助诊断及疾病的随访。
[ { "id": 0, "entity": "血液生化检查", "start_offset": 10, "end_offset": 16, "label": "pro" } ]
1.甲胎蛋白(α-FP)αFP是一种胚胎性蛋白,半衰期为5~7天,出生时水平较成人明显高,至1岁时降至成人水平。
[ { "id": 0, "entity": "甲胎蛋白", "start_offset": 2, "end_offset": 6, "label": "ite" }, { "id": 1, "entity": "α-FP", "start_offset": 7, "end_offset": 11, "label": "ite" }, { "id": 2, "entity": "αFP", "start_offset": 12, "end_offset": 15, "label": "ite" }, { "id": 3, "entity": "胚胎性蛋白", "start_offset": 18, "end_offset": 23, "label": "bod" } ]
肝母细胞瘤、肝癌、肝细胞大量坏死后再生及生殖细胞性肿瘤时升高。
[ { "id": 0, "entity": "肝母细胞瘤", "start_offset": 0, "end_offset": 5, "label": "dis" }, { "id": 1, "entity": "肝癌", "start_offset": 6, "end_offset": 8, "label": "dis" }, { "id": 2, "entity": "肝细胞", "start_offset": 9, "end_offset": 12, "label": "bod" }, { "id": 3, "entity": "生殖细胞性肿瘤", "start_offset": 20, "end_offset": 27, "label": "dis" } ]
儿童生殖细胞性肿瘤好发部位肿块,伴有明显增高的α-FP提示肿块为生殖细胞性肿瘤可能较大。
[ { "id": 0, "entity": "儿童生殖细胞性肿瘤", "start_offset": 0, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "肿块", "start_offset": 13, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "α-FP", "start_offset": 23, "end_offset": 27, "label": "bod" }, { "id": 3, "entity": "肿块", "start_offset": 29, "end_offset": 31, "label": "bod" }, { "id": 4, "entity": "生殖细胞性肿瘤", "start_offset": 32, "end_offset": 39, "label": "dis" } ]
肿块α-FP组织化学染色阳性提示肿块内有恶性生殖细胞瘤成分。
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随访过程中α-FP的水平可反映肿瘤负荷的变化。
[ { "id": 0, "entity": "α-FP", "start_offset": 5, "end_offset": 9, "label": "ite" }, { "id": 1, "entity": "肿瘤", "start_offset": 15, "end_offset": 17, "label": "dis" } ]
对有α-FP增高的病例,在完全缓解和停药后随访α-FP的水平变化是必要的。
[ { "id": 0, "entity": "α-FP", "start_offset": 2, "end_offset": 6, "label": "ite" }, { "id": 1, "entity": "α-FP", "start_offset": 23, "end_offset": 27, "label": "ite" } ]
正常婴儿α-FP的变化范围(表11-11)。
[ { "id": 0, "entity": "α-FP", "start_offset": 4, "end_offset": 8, "label": "ite" } ]
2.β-人绒毛膜促性腺激素(β-HCG)在孕期由胎盘滋养层合胞体细胞合成,在生殖细胞性肿瘤病人中如β-HCG升高表明肿瘤中存在滋养层合胞体细胞克隆,常见于绒毛膜癌、精原细胞瘤或无性生殖细胞瘤,偶见于成人的胚胎性癌。
[ { "id": 0, "entity": "β-人绒毛膜促性腺激素", "start_offset": 2, "end_offset": 13, "label": "ite" }, { "id": 1, "entity": "β-HCG", "start_offset": 14, "end_offset": 19, "label": "ite" }, { "id": 2, "entity": "胎盘滋养层合胞体细胞", "start_offset": 24, "end_offset": 34, "label": "bod" }, { "id": 3, "entity": "生殖细胞性肿瘤", "start_offset": 38, "end_offset": 45, "label": "dis" }, { "id": 4, "entity": "β-HCG", "start_offset": 49, "end_offset": 54, "label": "ite" }, { "id": 5, "entity": "肿瘤", "start_offset": 58, "end_offset": 60, "label": "dis" }, { "id": 6, "entity": "滋养层合胞体细胞", "start_offset": 63, "end_offset": 71, "label": "bod" }, { "id": 7, "entity": "绒毛膜癌", "start_offset": 77, "end_offset": 81, "label": "dis" }, { "id": 8, "entity": "精原细胞瘤", "start_offset": 82, "end_offset": 87, "label": "dis" }, { "id": 9, "entity": "无性生殖细胞瘤", "start_offset": 88, "end_offset": 95, "label": "dis" }, { "id": 10, "entity": "胚胎性癌", "start_offset": 102, "end_offset": 106, "label": "dis" } ]
3.血清乳酸脱氢酶(LDH)可非特异性升高,并与肿瘤负荷成正比。
[ { "id": 0, "entity": "血清乳酸脱氢酶", "start_offset": 2, "end_offset": 9, "label": "ite" }, { "id": 1, "entity": "LDH", "start_offset": 10, "end_offset": 13, "label": "ite" }, { "id": 2, "entity": "肿瘤负荷", "start_offset": 24, "end_offset": 28, "label": "ite" } ]
表11-28正常婴儿α-FP值(二)影像学检查特征1.B型超声波骶尾部、睾丸、卵巢、盆腔、后腹膜肿块的大小、质地可由B型超声波检查得到证实,通常肿块密度不匀可伴有液化灶。
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畸胎瘤时可有类似骨组织样的强反光团CT或MRI示肿块大而质地不均一,伴有坏死灶或囊性变,畸胎瘤时也可见有密度较高的骨组织。
[ { "id": 0, "entity": "畸胎瘤", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "骨组织", "start_offset": 8, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "有类似骨组织样的强反光团", "start_offset": 5, "end_offset": 17, "label": "sym" }, { "id": 3, "entity": "CT", "start_offset": 17, "end_offset": 19, "label": "pro" }, { "id": 4, "entity": "MRI", "start_offset": 20, "end_offset": 23, "label": "pro" }, { "id": 5, "entity": "肿块", "start_offset": 24, "end_offset": 26, "label": "bod" }, { "id": 6, "entity": "畸胎瘤", "start_offset": 44, "end_offset": 47, "label": "dis" }, { "id": 7, "entity": "骨组织", "start_offset": 57, "end_offset": 60, "label": "bod" } ]
【治疗】生殖细胞瘤为一组在年龄、病理组织学类型、原发部位差异较大的疾病,因此在诊断和治疗过程中需因人给予相应的治疗措施。
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近年来由于化疗的进展,对手术的指征、时间及切除范围提出了新的建议。
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放疗在生殖细胞性肿瘤中的应用尚未确立。
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(一)手术对于局限性肿瘤及良性肿瘤如良性畸胎瘤等主要治疗手段为手术。
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对恶性生殖细胞性肿瘤,估计肿瘤不能完全切除或切除可能损害重要的生命组织结构时,应考虑仅做活检。
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在明确诊断后先行化疗,减少肿瘤负荷创造手术条件,待肿块明显缩小至基本能完全切除时再行根除手术。
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对于第一次手术未能完全切除者,并在化疗后仍有残留病灶时可考虑第二次手术。
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(二)化疗对于手术不能完全切除的儿童恶性生殖细胞瘤,过去预后很差,近年来由于有效的化疗的介入,预后有了较大的改善。
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单药有效的药物包括放线菌素D、长春碱、博来霉素、阿霉素、顺铂、VP-16等,其他较新的药物如卡铂、异环磷酰胺也有效。
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临床上主要采用联合化疗,以长春碱为基础增加其他有效的化疗药物,结合手术使无病生存率进一步提高,近来顺铂的加入使治愈率明显上升。
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目前常用的联合化疗方案(表11-11)。
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表11-29生殖细胞瘤常用的联合化疗方案(一般21天为一周期)对于局限性肿瘤如Ⅰ期完全切除的睾丸肿瘤和卵巢肿瘤可以术后不作化疗,定期观察随访。
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(三)放疗放疗在生殖细胞性肿瘤治疗中的地位未确定。
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克-雅病@二、克-雅病(Creutzfeldt-Jakobdisease,CJD)主要见于50~60岁成人,儿童少见。
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克-雅病@散发性发病。
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克-雅病@起病隐匿,首发症状多为疲倦、抑郁和体重减轻。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "疲倦", "start_offset": 16, "end_offset": 18, "label": "sym" }, { "id": 2, "entity": "抑郁", "start_offset": 19, "end_offset": 21, "label": "sym" }, { "id": 3, "entity": "体重减轻", "start_offset": 22, "end_offset": 26, "label": "sym" } ]
克-雅病@精神异常发生较早,表现为记忆力减退、判断力下降、异常行为和人格改变,提示高级皮层的特异性受累。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "精神异常发生较早", "start_offset": 5, "end_offset": 13, "label": "sym" }, { "id": 2, "entity": "记忆力减退", "start_offset": 17, "end_offset": 22, "label": "sym" }, { "id": 3, "entity": "判断力下降", "start_offset": 23, "end_offset": 28, "label": "sym" }, { "id": 4, "entity": "异常行为和人格改变", "start_offset": 29, "end_offset": 38, "label": "sym" }, { "id": 5, "entity": "提示高级皮层的特异性受累", "start_offset": 39, "end_offset": 51, "label": "sym" } ]
克-雅病@早期最常见的运动症状是协同障碍,常逐渐进展至典型的小脑性共济失调。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "协同障碍", "start_offset": 16, "end_offset": 20, "label": "sym" }, { "id": 2, "entity": "常逐渐进展至典型的小脑性共济失调", "start_offset": 21, "end_offset": 37, "label": "sym" } ]
克-雅病@发病数周至数月以内出现其他神经体征,如强直,动作缓慢,静止时面部表情丧失,静止性震颤等。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "强直", "start_offset": 24, "end_offset": 26, "label": "sym" }, { "id": 2, "entity": "动作缓慢", "start_offset": 27, "end_offset": 31, "label": "sym" }, { "id": 3, "entity": "静止时面部表情丧失", "start_offset": 32, "end_offset": 41, "label": "sym" }, { "id": 4, "entity": "静止性震颤", "start_offset": 42, "end_offset": 47, "label": "sym" } ]
克-雅病@中期病人出现肌阵挛,常可为突然的感觉性刺激所诱发。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "肌阵挛", "start_offset": 11, "end_offset": 14, "label": "sym" }, { "id": 2, "entity": "常可为突然的感觉性刺激所诱发", "start_offset": 15, "end_offset": 29, "label": "sym" } ]
克-雅病@稍晚出现惊厥。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "惊厥", "start_offset": 9, "end_offset": 11, "label": "sym" } ]
克-雅病@CJD最常见的特征是痴呆。
[ { "id": 0, "entity": "克-雅病", "start_offset": 0, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "CJD", "start_offset": 5, "end_offset": 8, "label": "dis" }, { "id": 2, "entity": "痴呆", "start_offset": 15, "end_offset": 17, "label": "sym" } ]