text stringlengths 4 4.87k | entities list |
|---|---|
时间是能否保留小肠的关键。 | [
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"entity": "小肠",
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"label": "bod"
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如果影像学检查发现肠旋转不良，但无临床症状，不必急诊手术。 | [
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手术采用经典的Ladd术式，须遵循以下6个原则：1.探查进腹后，立即将全部肠管托出腹腔，探查是否存在肠扭转或造成肠梗阻的其他原因，辨识回盲部位置。 | [
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"start_offset": 37,
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{
"id": 1,
"entity": "腹腔",
"start_offset": 41,
"end_offset": 43,
"label": "bod"
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"id": 2,
"entity": "肠扭转",
"start_offset": 50,
"end_offset": 53,
"label": "dis"
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"id": 3,
"entity": "肠梗阻",
"start_offset": 56,
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"label": "dis"
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"id": 4,
"entity": "回盲部",
"start_offset": 67,
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"label": "bod"
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肠扭转时，腹腔内浑浊腹水提示可能已存在细菌污染，脓性渗出见于缺血性肠坏死；如淋巴回流受阻则出现乳糜样腹水，应常规作腹水培养。 | [
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"id": 0,
"entity": "肠扭转",
"start_offset": 0,
"end_offset": 3,
"label": "dis"
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{
"id": 1,
"entity": "腹腔",
"start_offset": 5,
"end_offset": 7,
"label": "bod"
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{
"id": 2,
"entity": "肠坏死",
"start_offset": 33,
"end_offset": 36,
"label": "sym"
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"id": 3,
"entity": "腹水培养",
"start_offset": 57,
"end_offset": 61,
"label": "pro"
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2.扭转复位大多数情况下，肠扭转呈顺时针方向，应行逆时针旋转复位，也就是“把时针往后拨”。 | [
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"entity": "肠扭转",
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复位后，小肠可能已有充血、水肿及局部坏死，此时可用温水热敷一会儿，观察肠管血运情况。 | [
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"id": 1,
"entity": "肠管",
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若已存在肠坏死，应行肠切除与造瘘。 | [
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为了尽可能多地保留小肠，对一些暂时无法判断的可疑肠段，应旷置观察24～36小时，再次手术决定是否切除。 | [
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3.束带松解束带可压迫十二指肠造成反复梗阻，必须松解，通常松解至十二指肠上方的肝门，下方至十二指肠空肠连接部。 | [
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"entity": "十二指肠",
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"entity": "反复梗阻",
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"entity": "十二指肠空肠连接部",
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4.加宽肠系膜基底部，松解十二指肠内侧部分的束带，可进一步增加十二指肠和升结肠间距离，最大限度地扩大肠系膜基底部，以减少肠扭转机会。 | [
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"entity": "十二指肠",
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"entity": "十二指肠",
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"entity": "肠系膜基底部",
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"id": 4,
"entity": "肠扭转",
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但并不强调回盲部和十二指肠复位至正常解剖位置。 | [
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5.解除十二指肠梗阻十二指肠粘连处可形成“螺旋样”结构，从幽门至空肠近端的整个十二指肠，应彻底暴露松解，解除梗阻。 | [
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"entity": "十二指肠",
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6.顺行切除阑尾后，回盲部最终位于左侧腹，若将来发生阑尾炎，诊断具有困难，故应顺便切除阑尾。 | [
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"entity": "左侧腹",
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"entity": "阑尾",
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小肠放回右侧腹腔，而结肠放在左侧腹。 | [
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【结果】手术治疗肠旋转不良的死亡率为3%～9%，如同时伴有小肠坏死、早产及其他畸形，则死亡率上升。 | [
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此外，及时辨识肠扭转和肠旋转不良症状、早期诊断与治疗均是改善其预后的重要环节。 | [
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【并发症】临床上很少复发肠扭转，但术后出现肠梗阻表现时，仍需考虑复发可能。 | [
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导致肠扭转复发的因素包括：将小肠固定于腹腔右侧、结肠固定于左侧的腹腔内粘连形成不全；或肠系膜基底部不够宽大。 | [
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"entity": "肠系膜",
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有报告肠扭转的复发率为0～10%。 | [
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约18%小儿短肠综合征的原因是肠扭转，因此早期及时的诊断与治疗是关键。 | [
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第二章儿童心血管系统的解剖生理特点第一节心脏的解剖特点在先天性心脏病中，任何的腔室、任何的瓣膜或血管可位于心脏的任何位置。 | [
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"entity": "腔室",
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"entity": "瓣膜",
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"entity": "血管",
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"id": 8,
"entity": "心脏",
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因此，心腔判别既不能依靠其相对位置（左侧或右侧），也不能单靠其功能进行判断。 | [
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因为在先天性心脏病中位置和功能变化无常。 | [
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一个心室可位于左侧且为动脉系统，但它可为形态学左心室，亦可为形态学右心室，解剖学形态的判别是先天性心脏病准确诊断的最大难点。 | [
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一、心房形态学左右心房的特征（表9-9），每个心房均包含有三个部分：①静脉部，②原始心房部，及③房室通道部。 | [
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"id": 1,
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"entity": "心房",
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"entity": "原始心房部",
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"entity": "房室通道部",
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两心房的静脉部组成不同，但固有心房部均由心耳及小梁组成，房室通道部均由房室瓣及房室隔所组成。 | [
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"entity": "心房部",
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{
"id": 3,
"entity": "心耳",
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{
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"entity": "小梁",
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"entity": "房室通道部",
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{
"id": 6,
"entity": "房室瓣",
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{
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"entity": "房室隔",
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表9-2左右心房解剖形态学特征（一）形态学右心房在右心房，静脉部在形态上即是腔静脉窦，由上腔静脉入口，上下腔静脉汇合部静脉汇合部及冠状窦所组成的光滑的腔室。 | [
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"entity": "静脉部",
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{
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"entity": "上腔静脉",
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"entity": "冠状窦",
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"label": "bod"
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{
"id": 9,
"entity": "腔室",
"start_offset": 75,
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] |
下腔静脉与腔静脉窦下方相连，上腔静脉则与其上方相接，冠状静脉窦则回流入腔静脉窦中部。 | [
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"entity": "冠状静脉窦",
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{
"id": 4,
"entity": "腔静脉窦中部",
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其房隔面为继发隔，房间隔的平面与人体的冠状面呈45°角，故当病人平卧时，房间隔平面并不在水平位置，如需要将房间隔保持水平则需将病人右侧垫高30°～45°。 | [
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{
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"entity": "房间隔",
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"entity": "房间隔",
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终嵴为与心外界沟相对应的肌性组织，位于下腔静脉入口的侧面，窦房结位于其内膜下方，为腔静脉窦与固有心房的分界线。 | [
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{
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"label": "bod"
},
{
"id": 5,
"entity": "内膜",
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"end_offset": 37,
"label": "bod"
},
{
"id": 6,
"entity": "腔静脉窦",
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"end_offset": 45,
"label": "bod"
},
{
"id": 7,
"entity": "心房",
"start_offset": 48,
"end_offset": 50,
"label": "bod"
}
] |
外科手术时如果缝到终嵴可引起窦房结动脉栓塞导致窦房结缺血及病窦综合征。 | [
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{
"id": 4,
"entity": "病窦综合征",
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TS接近与终嵴垂直，在心导管术时，导管头可能卡在TS下方造成心房穿孔，心房向前突出的部分即为右心耳，其形态为宽底的三角形，位于右心房的前方，将主动脉右侧遮盖，其内面梳状肌丰富。 | [
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心脏手术时，右心耳为手指心内探查及右心房内插管的理想部位。 | [
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房室结位于冠状静脉窦口的前方，希氏束则位于冠状窦口与三尖瓣隔前瓣交点（膜部室间隔）的连线上。 | [
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房室束紧贴在膜部室间隔下方穿入心室。 | [
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因此，房室结及房室束位于三尖瓣隔瓣、冠状静脉瓣（Thebesian瓣）及欧氏瓣形成的三角区内（Koch三角）。 | [
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{
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（二）形态学左心房左心房是四个心腔中最靠后、上且近中线的部分，前方有狭长的指头样突起的左心耳为其特征。 | [
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"id": 1,
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"entity": "左心耳",
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在其内面，房隔面为原发隔，即卵圆孔膜。 | [
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"entity": "卵圆孔膜",
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在心房位置正常时，原发隔位于继发隔的左侧，而在心房反位时则位于继发隔的右侧。 | [
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左心房的静脉部由正常情况下四根肺静脉汇合成的共同肺静脉所组成。 | [
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三、特异性免疫治疗（脱敏治疗）变应原特异性免疫治疗是通过使用高效、标准化的纯化抗原，使机体对变应原反应性降低，以减轻气道慢性特应性炎症；与成人哮喘相比，呼吸道过敏在儿童哮喘中更为突出，使变应原特异性免疫成为一种重要的治疗儿童过敏性哮喘方法。 | [
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] |
这种疗法的唯一缺点是需要多次注射才能达到（个体）最大剂量，而且由于IgE介导的（B细胞抗原决定族引起的）不良反应，每次注射的变应原剂量不能随意增大。 | [
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{
"id": 1,
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{
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通过对变应原加工，进行化学修饰（如使用甲醛），改变蛋白结构，可以制成类变应原。 | [
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理论上使用类变应原可以减少不良反应，延长作用持续时间，减少注射次数。 | [
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目前认为变应原特异性免疫治疗对下列物质过敏治疗有效：1.花粉引起的哮喘和过敏性鼻炎桦属和桦木科植物花粉、禾本科植物花粉、豚草属植物花粉、Parietaria植物花粉2.屋尘螨引起的哮喘和过敏性鼻炎3.猫皮屑引起的哮喘4.真菌引起的哮喘链格孢属、支孢霉属霉菌现强调治疗应从早期开始，它既可以抑制已形成的变应原过敏状态的进一步发展，还能阻止机体对其他变应原过敏的形成。 | [
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递增阶段是一个逐渐增加变应原浓度的过程，目的是在减少机体反应性同时，使IgE介导的不良反应降低到最小程度。 | [
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] |
目前国内主要使用的是螨特异性免疫治疗，并已有舌下螨脱敏制剂开始应用于临床。 | [
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第十七篇免疫系统疾病第一章小儿免疫系统发育特征一、概述免疫（immune）的最基本含义是识别自己、排斥异己。 | [
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免疫系统在机体防御感染、清除衰老、死亡、损伤以及突变细胞等方面发挥重要作用。 | [
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] |
免疫系统的各类细胞均来自多能造血干细胞（SC），SC在胚胎期储于卵黄囊或胚肝，最终均存于骨髓。 | [
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{
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{
"id": 6,
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SC在特殊的微环境中受到特定诱导信号刺激后将向各种细胞方向分化、发育。 | [
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SC向免疫有关的细胞发育主要有两方面：一方面向免疫效应细胞分化，构成天然免疫系统，如生发中心的树状突细胞、皮肤朗格汉斯细胞（Langerhan）、分泌炎症介质的细胞（肥大细胞、嗜碱性细胞以及嗜酸性细胞等）以及内皮细胞、成纤维细胞、成骨细胞、破骨细胞和肝上皮细胞等天然免疫反应细胞；另一方面分化成两大类淋巴细胞，即T细胞和B细胞，由它们构成了抗原特异性免疫系统。 | [
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{
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{
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{
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"id": 6,
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{
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"entity": "嗜碱性细胞",
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{
"id": 8,
"entity": "嗜酸性细胞",
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{
"id": 9,
"entity": "内皮细胞",
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},
{
"id": 10,
"entity": "成纤维细胞",
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{
"id": 11,
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{
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{
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{
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{
"id": 16,
"entity": "B细胞",
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}
] |
成熟淋巴细胞都有自己明确的免疫效能，如通过分泌各类抗体，直接杀伤细胞，分泌效应细胞因子等来发挥特异性免疫功能。 | [
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{
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"start_offset": 37,
"end_offset": 43,
"label": "bod"
}
] |
同时淋巴细胞通过表达各种细胞膜表面分子，由它决定淋巴细胞在免疫网络反应中各自传递信号的形式；通过分泌多种细胞因子来调节免疫系统中细胞间各自的功能状态，从而有机地、协调地发挥免疫系统的完整功能。 | [
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] |
免疫功能的实现主要由五种成分完成：①单核/巨噬细胞（MC/MΦ）；②中性粒细胞（PMN）；③补体系统；④T淋巴细胞及其分泌的淋巴因子；⑤B淋巴细胞及其分泌的免疫球蛋白（Ig）。 | [
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"entity": "B淋巴细胞",
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{
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"entity": "免疫球蛋白",
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{
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"entity": "Ig",
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] |
狭义上讲，由淋巴细胞介导的免疫反应称为特异性免疫，由非淋巴细胞介导的免疫反应为非特异性免疫，事实上淋巴细胞也参与一些非特异性免疫效应，MC/MΦ等也参与一些特异性免疫效应过程。 | [
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MC/MΦ作为抗原提呈细胞（APC）吞噬、消化及处理抗原，并将抗原信息递呈给淋巴细胞，另一方面MC/MΦ也分泌细胞因子参与免疫反应。 | [
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"entity": "细胞因子",
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Ⅰ类APC分泌IL-12及IL-18，诱导CD4+T淋巴细胞向TH1（辅助性T细胞1）方向分化，TH1细胞分泌白细胞介素-2（IL-2）和干扰素-γ（IFN-γ），促进CD8+</sup>T淋巴细胞、毒性杀伤性T细胞（CTL）和自然杀伤细胞（NK）活性，发挥细胞免疫功能；Ⅱ类APC细胞分泌IL-4，诱导CD4+</sup>T淋巴向TH</sub>2细胞方向分化，TH</sub>2细胞分泌IL-4、IL-5、IL-6、IL-8、IL-10、IL-13以及IL-15等细胞因子，辅助B淋巴细胞分化成浆细胞，合成并分泌抗体。 | [
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{
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{
"id": 8,
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{
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{
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"entity": "自然杀伤细胞",
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{
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{
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{
"id": 18,
"entity": "IL-5",
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{
"id": 19,
"entity": "IL-6",
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"label": "bod"
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{
"id": 20,
"entity": "IL-8",
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{
"id": 21,
"entity": "IL-10",
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{
"id": 22,
"entity": "IL-13",
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},
{
"id": 23,
"entity": "IL-15",
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{
"id": 24,
"entity": "细胞因子",
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"end_offset": 238,
"label": "bod"
},
{
"id": 25,
"entity": "辅助B淋巴细胞",
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"end_offset": 246,
"label": "bod"
},
{
"id": 26,
"entity": "浆细胞",
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"label": "bod"
},
{
"id": 27,
"entity": "抗体",
"start_offset": 258,
"end_offset": 260,
"label": "bod"
}
] |
抗体结合抗原形成免疫复合物，并激活补体，补体复合物或效应片段可激活中性粒细胞的趋化、吞噬、氧化和杀菌功能，发生炎症，有利于清除抗原物质，发挥体液免疫功能。 | [
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{
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"entity": "中性粒细胞",
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{
"id": 3,
"entity": "炎症",
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},
{
"id": 4,
"entity": "体液",
"start_offset": 70,
"end_offset": 72,
"label": "bod"
}
] |
此外，静息T细胞还可以在转化生长因子-β（TGF-β）诱导下分化成CD4+</sup>CD25+</sup>调节性T细胞（CD4+</sup>CD25+</sup>Treg），CD4+</sup>CD25+</sup>Treg主要发挥免疫抑制作用，调节免疫反应的强度。 | [
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{
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"entity": "TGF-β",
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上述免疫反应网络中，APC与T细胞或B细胞之间的信息传递，除抗原信号之外还需要一些共刺激信号，如T细胞与B细胞或APC之间的CD40配体（CD40L）-CD40；T细胞与B细胞或APC之间的CD28及配体分子（CD80，也称B7）等信号间交联，才能最终完成免疫应答程序。 | [
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"entity": "CD40",
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"entity": "B细胞",
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"entity": "APC",
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"entity": "CD28",
"start_offset": 95,
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{
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"entity": "配体分子",
"start_offset": 100,
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{
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"entity": "CD80",
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},
{
"id": 15,
"entity": "B7",
"start_offset": 112,
"end_offset": 114,
"label": "bod"
}
] |
在免疫调节网络中T细胞发挥“中心”作用，免疫网络调节失衡将产生各种临床疾病。 | [
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"entity": "T细胞",
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] |
第六节先天性睾丸发育不全综合征【概述】先天性睾丸发育不全综合征又称Klinefelter综合征，是一种发病率较高的性染色体疾病，在染色体鉴定之前，1942年Klinefelter首先报道了此症，1956年Bradbury等表明患者体细胞内呈女性X染色质，1959年Jacobs和Strong首先发现该病患者的染色体核型为47，XXY。 | [
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"entity": "先天性睾丸发育不全综合征",
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{
"id": 3,
"entity": "性染色体疾病",
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{
"id": 4,
"entity": "体细胞内呈女性X染色质",
"start_offset": 115,
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"label": "sym"
},
{
"id": 5,
"entity": "染色体核型为47",
"start_offset": 154,
"end_offset": 162,
"label": "sym"
}
] |
由于性染色体异常导致睾丸发育不全、不育及智能低下等。 | [
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"entity": "智能低下",
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在男性无生育力或性腺发育不良患者中高达30%。 | [
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【病理生理和发病机制】先天性睾丸发育不全综合征是一种先天性睾丸生精发育不全或不发育的疾病，患者常因不育或体检外生殖器不发育而就诊，然后经染色体检查确诊。 | [
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该病不同类型的共同特征是性染色体比正常的XY多一个或一个以上的X染色体。 | [
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{
"id": 2,
"entity": "X染色体",
"start_offset": 31,
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] |
多余的X染色体对睾丸及体征均有不对体征影响更甚。 | [
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"entity": "X染色体",
"start_offset": 3,
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{
"id": 1,
"entity": "睾丸",
"start_offset": 8,
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X染色体越多，睾丸发育不良程度越明显，症状越严重，智能发育越差，其他畸症状越严重愈多。 | [
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{
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"entity": "畸症状越严重",
"start_offset": 34,
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"label": "sym"
}
] |
由于Y染色体有睾丸决定基因（TDF），该病患者均睾丸决定基因，因此患者表型为男性，但超过正常的X染色体导致不同程度的女性化。 | [
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"entity": "基因",
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"entity": "TDF",
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{
"id": 5,
"entity": "X染色体",
"start_offset": 47,
"end_offset": 51,
"label": "bod"
}
] |
先天性睾丸发育不全综合征的染色体核型较多，1987年在国内王德芬等报道的62例中，47，XXY占71.0%，47，XXY/46，XY嵌合体占24.2%，48，XXXY及48，XXYY各约3.2%和1.6%。 | [
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{
"id": 5,
"entity": "XXYY",
"start_offset": 87,
"end_offset": 91,
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}
] |
这些核型的形成是由于细胞成熟分裂，或受精卵在卵裂中发生的性染色体或性染色单体不分离的结果。 | [
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{
"id": 1,
"entity": "性染色单体",
"start_offset": 33,
"end_offset": 38,
"label": "bod"
}
] |
染色体基因标记研究提示，卵子细胞的不染色体基因标记的2倍。 | [
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{
"id": 1,
"entity": "不染色体基因标记",
"start_offset": 17,
"end_offset": 25,
"label": "pro"
}
] |
性染色体畸变，以高龄孕妇妊娠中机会为多，可因卵细胞的衰老、着丝点纵裂动力减弱或纺锤丝迷向的缘故着丝点纵裂动力减弱生殖细胞形成过程中发生了性染色体不分离。 | [
{
"id": 0,
"entity": "卵细胞",
"start_offset": 22,
"end_offset": 25,
"label": "bod"
},
{
"id": 1,
"entity": "着丝点纵裂动力减弱",
"start_offset": 47,
"end_offset": 56,
"label": "sym"
},
{
"id": 2,
"entity": "生殖细胞",
"start_offset": 56,
"end_offset": 60,
"label": "bod"
},
{
"id": 3,
"entity": "性染色体",
"start_offset": 68,
"end_offset": 72,
"label": "bod"
}
] |
有分析表明，60%的患者是由于母体染色体不分离，40%是由于父体染色体不分离所致。 | [
{
"id": 0,
"entity": "母体染色体",
"start_offset": 15,
"end_offset": 20,
"label": "bod"
},
{
"id": 1,
"entity": "父体染色体",
"start_offset": 30,
"end_offset": 35,
"label": "bod"
}
] |
成熟分裂过程父体染色体不分离约有83%的可能发生在第一次减数分裂，17%的可能发生在第二次减数分裂。 | [
{
"id": 0,
"entity": "父体染色体",
"start_offset": 6,
"end_offset": 11,
"label": "bod"
},
{
"id": 1,
"entity": "父体染色体不分离",
"start_offset": 6,
"end_offset": 14,
"label": "sym"
}
] |
由于X染色体的增多，致使睾丸未发育，阴茎短小，血浆睾酮降低，FSH及LH升高；血浆睾酮降低不足，FSH升高可能是因为支持细胞损伤，分泌抑制素减少之故。 | [
{
"id": 0,
"entity": "X染色体",
"start_offset": 2,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "睾丸",
"start_offset": 12,
"end_offset": 14,
"label": "bod"
},
{
"id": 2,
"entity": "致使睾丸未发育",
"start_offset": 10,
"end_offset": 17,
"label": "sym"
},
{
"id": 3,
"entity": "阴茎",
"start_offset": 18,
"end_offset": 20,
"label": "bod"
},
{
"id": 4,
"entity": "阴茎短小",
"start_offset": 18,
"end_offset": 22,
"label": "sym"
},
{
"id": 5,
"entity": "血浆睾酮",
"start_offset": 23,
"end_offset": 27,
"label": "ite"
},
{
"id": 6,
"entity": "血浆睾酮降低",
"start_offset": 23,
"end_offset": 29,
"label": "sym"
},
{
"id": 7,
"entity": "FSH",
"start_offset": 30,
"end_offset": 33,
"label": "ite"
},
{
"id": 8,
"entity": "LH",
"start_offset": 34,
"end_offset": 36,
"label": "ite"
},
{
"id": 9,
"entity": "血浆睾酮降低不足",
"start_offset": 39,
"end_offset": 47,
"label": "sym"
},
{
"id": 10,
"entity": "FSH",
"start_offset": 48,
"end_offset": 51,
"label": "ite"
},
{
"id": 11,
"entity": "细胞",
"start_offset": 60,
"end_offset": 62,
"label": "bod"
},
{
"id": 12,
"entity": "抑制素",
"start_offset": 67,
"end_offset": 70,
"label": "bod"
}
] |
支持细胞损伤低，说明该病患者睾丸间质细胞分泌睾酮功能降低，这就必然使LH代偿性升高。 | [
{
"id": 0,
"entity": "支持细胞损伤",
"start_offset": 0,
"end_offset": 6,
"label": "sym"
},
{
"id": 1,
"entity": "睾丸间质细胞",
"start_offset": 14,
"end_offset": 20,
"label": "bod"
},
{
"id": 2,
"entity": "睾酮",
"start_offset": 22,
"end_offset": 24,
"label": "bod"
}
] |
通过电镜观察，患者LH代偿性升高内有异常线粒体和内质网，这可能是干扰睾酮生物合成障碍的物质基础。 | [
{
"id": 0,
"entity": "电镜",
"start_offset": 2,
"end_offset": 4,
"label": "equ"
},
{
"id": 1,
"entity": "LH代偿性升高",
"start_offset": 9,
"end_offset": 16,
"label": "sym"
},
{
"id": 2,
"entity": "异常线粒体",
"start_offset": 18,
"end_offset": 23,
"label": "bod"
},
{
"id": 3,
"entity": "内质网",
"start_offset": 24,
"end_offset": 27,
"label": "bod"
},
{
"id": 4,
"entity": "睾酮生物",
"start_offset": 34,
"end_offset": 38,
"label": "bod"
}
] |
【临床表现】患者表型男性，体格较瘦长，身材较高，指间距大往往增大，乳房女性化约占40%。 | [
{
"id": 0,
"entity": "体格较瘦长",
"start_offset": 13,
"end_offset": 18,
"label": "sym"
},
{
"id": 1,
"entity": "身材较高",
"start_offset": 19,
"end_offset": 23,
"label": "sym"
},
{
"id": 2,
"entity": "指间距大",
"start_offset": 24,
"end_offset": 28,
"label": "sym"
}
] |
青春期发育常延缓，由于无精子，一般青春期发育常延缓有例外）。 | [
{
"id": 0,
"entity": "青春期发育常延缓",
"start_offset": 17,
"end_offset": 25,
"label": "sym"
}
] |
体格检查发现男性第二性征不明显，无胡须，无喉结，皮肤白皙，睾丸小，可有隐睾或尿道下裂，阴茎亦小。 | [
{
"id": 0,
"entity": "胡须",
"start_offset": 17,
"end_offset": 19,
"label": "bod"
},
{
"id": 1,
"entity": "无胡须",
"start_offset": 16,
"end_offset": 19,
"label": "sym"
},
{
"id": 2,
"entity": "喉结",
"start_offset": 21,
"end_offset": 23,
"label": "bod"
},
{
"id": 3,
"entity": "无喉结",
"start_offset": 20,
"end_offset": 23,
"label": "sym"
},
{
"id": 4,
"entity": "皮肤",
"start_offset": 24,
"end_offset": 26,
"label": "bod"
},
{
"id": 5,
"entity": "皮肤白皙",
"start_offset": 24,
"end_offset": 28,
"label": "sym"
},
{
"id": 6,
"entity": "睾丸",
"start_offset": 29,
"end_offset": 31,
"label": "bod"
},
{
"id": 7,
"entity": "睾丸小",
"start_offset": 29,
"end_offset": 32,
"label": "sym"
},
{
"id": 8,
"entity": "有隐睾或尿道下裂",
"start_offset": 34,
"end_offset": 42,
"label": "sym"
},
{
"id": 9,
"entity": "阴茎",
"start_offset": 43,
"end_offset": 45,
"label": "bod"
},
{
"id": 10,
"entity": "阴茎亦小",
"start_offset": 43,
"end_offset": 47,
"label": "sym"
}
] |
患者可有性格孤僻、腼腆、不活跃、胆小。 | [
{
"id": 0,
"entity": "性格孤僻",
"start_offset": 4,
"end_offset": 8,
"label": "sym"
},
{
"id": 1,
"entity": "腼腆",
"start_offset": 9,
"end_offset": 11,
"label": "sym"
},
{
"id": 2,
"entity": "不活跃",
"start_offset": 12,
"end_offset": 15,
"label": "sym"
},
{
"id": 3,
"entity": "胆小",
"start_offset": 16,
"end_offset": 18,
"label": "sym"
}
] |
在标准47，XXY核型缺乏男孩性格25%显示中等度智能发育落后，表现为语言和学习障碍。 | [
{
"id": 0,
"entity": "XXY",
"start_offset": 6,
"end_offset": 9,
"label": "bod"
},
{
"id": 1,
"entity": "缺乏男孩性格",
"start_offset": 11,
"end_offset": 17,
"label": "sym"
},
{
"id": 2,
"entity": "智能发育落后",
"start_offset": 25,
"end_offset": 31,
"label": "sym"
},
{
"id": 3,
"entity": "语言和学习障碍",
"start_offset": 35,
"end_offset": 42,
"label": "sym"
}
] |
若对智能落后或行为异常的儿童作常规的染色体核型分析进行早期诊断。 | [
{
"id": 0,
"entity": "染色体核型分析",
"start_offset": 18,
"end_offset": 25,
"label": "pro"
}
] |
【实验室检查】1.染色体核型分析（1）外周血淋巴细胞染色体核型分析：正常男性体细胞中的性染色体为XY，该病性染色体标准型为XXY，为性染色体三体型。 | [
{
"id": 0,
"entity": "染色体核型分析",
"start_offset": 9,
"end_offset": 16,
"label": "pro"
},
{
"id": 1,
"entity": "外周血淋巴细胞染色体核型分析",
"start_offset": 19,
"end_offset": 33,
"label": "pro"
},
{
"id": 2,
"entity": "XY",
"start_offset": 48,
"end_offset": 50,
"label": "bod"
},
{
"id": 3,
"entity": "XXY",
"start_offset": 61,
"end_offset": 64,
"label": "bod"
},
{
"id": 4,
"entity": "性染色体三体型",
"start_offset": 66,
"end_offset": 73,
"label": "dis"
}
] |
该病80%核型为标准型47，XXY或者标准型核型变型，例如48，XXXY；48，XXYY；49，XXXXY；49，XXXYY。 | [
{
"id": 0,
"entity": "XXY",
"start_offset": 14,
"end_offset": 17,
"label": "bod"
},
{
"id": 1,
"entity": "XXXY",
"start_offset": 32,
"end_offset": 36,
"label": "bod"
},
{
"id": 2,
"entity": "XXYY",
"start_offset": 40,
"end_offset": 44,
"label": "bod"
},
{
"id": 3,
"entity": "XXXXY",
"start_offset": 48,
"end_offset": 53,
"label": "bod"
},
{
"id": 4,
"entity": "XXXYY",
"start_offset": 57,
"end_offset": 62,
"label": "bod"
}
] |
15%为嵌合体型，嵌合体有47，XXY/46，XY；47，XXY/46，XX；47，XXY/46，XY/45，X；47，XXY/46，XY/46，XX等。 | [
{
"id": 0,
"entity": "XXY",
"start_offset": 16,
"end_offset": 19,
"label": "bod"
},
{
"id": 1,
"entity": "XY",
"start_offset": 23,
"end_offset": 25,
"label": "bod"
},
{
"id": 2,
"entity": "XXY",
"start_offset": 29,
"end_offset": 32,
"label": "bod"
},
{
"id": 3,
"entity": "XX",
"start_offset": 36,
"end_offset": 38,
"label": "bod"
},
{
"id": 4,
"entity": "XXY",
"start_offset": 42,
"end_offset": 45,
"label": "bod"
},
{
"id": 5,
"entity": "XY",
"start_offset": 49,
"end_offset": 51,
"label": "bod"
},
{
"id": 6,
"entity": "X",
"start_offset": 55,
"end_offset": 56,
"label": "bod"
},
{
"id": 7,
"entity": "XXY",
"start_offset": 60,
"end_offset": 63,
"label": "bod"
},
{
"id": 8,
"entity": "XY",
"start_offset": 67,
"end_offset": 69,
"label": "bod"
},
{
"id": 9,
"entity": "XX",
"start_offset": 73,
"end_offset": 75,
"label": "bod"
}
] |
（2）羊水细胞染色体核型分析：为了防止先羊水细胞染色体核型分析性染色体疾病患儿的出生，在妊娠中期第16～20周行羊膜腔穿刺，抽取羊水细胞，经培养后进行胎儿染色体核型分析，发现异常核型及时终止妊娠，可降低出生缺陷。 | [
{
"id": 0,
"entity": "羊水细胞染色体核型分析",
"start_offset": 3,
"end_offset": 14,
"label": "pro"
},
{
"id": 1,
"entity": "羊水细胞染色体核型分析",
"start_offset": 20,
"end_offset": 31,
"label": "pro"
},
{
"id": 2,
"entity": "性染色体疾病",
"start_offset": 31,
"end_offset": 37,
"label": "dis"
},
{
"id": 3,
"entity": "羊膜腔穿刺",
"start_offset": 56,
"end_offset": 61,
"label": "pro"
},
{
"id": 4,
"entity": "染色体核型分析",
"start_offset": 77,
"end_offset": 84,
"label": "pro"
}
] |
2.荧光原位杂交妊娠中期对胎儿染色体核荧光原位杂交论是外周血淋巴细胞还是羊水细胞均需作细胞培养后才能进行核型分析，因此很细胞培养，而荧光原位杂交检测不需细胞培养，可直接对间期细胞进行杂交检测，缩短了诊断时间期细胞于产前诊断则该方法更显出其优势，可直接和绒毛细胞、羊水细胞杂交，1天即可得出结论。 | [
{
"id": 0,
"entity": "荧光原位杂交",
"start_offset": 2,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "荧光原位杂交",
"start_offset": 19,
"end_offset": 25,
"label": "pro"
},
{
"id": 2,
"entity": "细胞培养",
"start_offset": 43,
"end_offset": 47,
"label": "pro"
},
{
"id": 3,
"entity": "核型分析",
"start_offset": 52,
"end_offset": 56,
"label": "pro"
},
{
"id": 4,
"entity": "细胞培养",
"start_offset": 60,
"end_offset": 64,
"label": "pro"
},
{
"id": 5,
"entity": "荧光原位杂交检测",
"start_offset": 66,
"end_offset": 74,
"label": "pro"
},
{
"id": 6,
"entity": "间期细胞",
"start_offset": 102,
"end_offset": 106,
"label": "ite"
},
{
"id": 7,
"entity": "产前诊断",
"start_offset": 107,
"end_offset": 111,
"label": "pro"
},
{
"id": 8,
"entity": "绒毛细胞",
"start_offset": 126,
"end_offset": 130,
"label": "bod"
},
{
"id": 9,
"entity": "羊水细胞杂交",
"start_offset": 131,
"end_offset": 137,
"label": "bod"
}
] |
3.生化检验及其他检验患者血清中睾酮生化检验对下丘脑垂体反馈抑制减弱，垂体促性腺激素黄体生成激素（LH）及促卵泡生长激素（FSH）水平LH高，血清睾酮水平较正常为低；促性腺激素释放激素（LHRH）兴奋试验显示FSH反应增高，LH反应正常；人绒毛HCG）刺激试验睾酮呈低反应。 | [
{
"id": 0,
"entity": "血清",
"start_offset": 13,
"end_offset": 15,
"label": "bod"
},
{
"id": 1,
"entity": "睾酮",
"start_offset": 16,
"end_offset": 18,
"label": "bod"
},
{
"id": 2,
"entity": "生化检验",
"start_offset": 18,
"end_offset": 22,
"label": "pro"
},
{
"id": 3,
"entity": "下丘脑垂体",
"start_offset": 23,
"end_offset": 28,
"label": "bod"
},
{
"id": 4,
"entity": "垂体促性腺激素",
"start_offset": 35,
"end_offset": 42,
"label": "bod"
},
{
"id": 5,
"entity": "激素",
"start_offset": 46,
"end_offset": 48,
"label": "bod"
},
{
"id": 6,
"entity": "促卵泡生长激素",
"start_offset": 53,
"end_offset": 60,
"label": "bod"
},
{
"id": 7,
"entity": "FSH",
"start_offset": 61,
"end_offset": 64,
"label": "bod"
},
{
"id": 8,
"entity": "LH",
"start_offset": 67,
"end_offset": 69,
"label": "bod"
},
{
"id": 9,
"entity": "血清睾酮",
"start_offset": 71,
"end_offset": 75,
"label": "bod"
},
{
"id": 10,
"entity": "促性腺激素",
"start_offset": 83,
"end_offset": 88,
"label": "bod"
},
{
"id": 11,
"entity": "激素",
"start_offset": 90,
"end_offset": 92,
"label": "bod"
},
{
"id": 12,
"entity": "LHRH",
"start_offset": 93,
"end_offset": 97,
"label": "bod"
},
{
"id": 13,
"entity": "FSH反应增高",
"start_offset": 104,
"end_offset": 111,
"label": "sym"
},
{
"id": 14,
"entity": "LH反应正常",
"start_offset": 112,
"end_offset": 118,
"label": "sym"
},
{
"id": 15,
"entity": "人绒毛HCG",
"start_offset": 119,
"end_offset": 125,
"label": "bod"
},
{
"id": 16,
"entity": "睾酮呈低反应",
"start_offset": 130,
"end_offset": 136,
"label": "sym"
}
] |
患者精液中无精子生成，睾丸活体组织患者精液中无精子生成变性，间质细胞增生。 | [
{
"id": 0,
"entity": "精液",
"start_offset": 2,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "精子",
"start_offset": 6,
"end_offset": 8,
"label": "bod"
},
{
"id": 2,
"entity": "睾丸",
"start_offset": 11,
"end_offset": 13,
"label": "bod"
},
{
"id": 3,
"entity": "患者精液中无精子生成",
"start_offset": 17,
"end_offset": 27,
"label": "sym"
},
{
"id": 4,
"entity": "间质细胞",
"start_offset": 30,
"end_offset": 34,
"label": "bod"
}
] |
【诊断】Klinefelter综合征在儿童期可因隐睾或者小睾丸来诊，但多数因症状不严重，缺乏特征性或体格检查疏忽不易被重视缺乏特征性青春发育期，由于睾丸不发育，男性化不全，部分患者有女性乳腺发育或不育而来诊。 | [
{
"id": 0,
"entity": "Klinefelter综合征",
"start_offset": 4,
"end_offset": 18,
"label": "dis"
},
{
"id": 1,
"entity": "隐睾",
"start_offset": 24,
"end_offset": 26,
"label": "bod"
},
{
"id": 2,
"entity": "小睾丸",
"start_offset": 28,
"end_offset": 31,
"label": "bod"
},
{
"id": 3,
"entity": "缺乏特征性",
"start_offset": 61,
"end_offset": 66,
"label": "sym"
}
] |
根据临床特征怀疑为先天性睾丸发育不全综合征的患者可先予生化检查。 | [
{
"id": 0,
"entity": "先天性睾丸发育不全综合征",
"start_offset": 9,
"end_offset": 21,
"label": "dis"
}
] |
若血清FSH及LH增高，睾酮水平较正常为低，可对患者作睾酮水平较正常为低型分析。 | [
{
"id": 0,
"entity": "血清FSH及LH增高",
"start_offset": 1,
"end_offset": 11,
"label": "sym"
},
{
"id": 1,
"entity": "睾酮水平较正常为低",
"start_offset": 12,
"end_offset": 21,
"label": "sym"
},
{
"id": 2,
"entity": "睾酮水平较正常为低",
"start_offset": 27,
"end_offset": 36,
"label": "sym"
}
] |
确定X染色体数目，是诊断先天性睾丸发育不全的主要依据。 | [
{
"id": 0,
"entity": "先天性睾丸发育不全",
"start_offset": 12,
"end_offset": 21,
"label": "dis"
}
] |
FISH技术是快速诊断方法。 | [
{
"id": 0,
"entity": "FISH技术",
"start_offset": 0,
"end_offset": 6,
"label": "pro"
}
] |
本症要与青春期发育延迟作鉴别诊断。 | [
{
"id": 0,
"entity": "青春期发育延迟",
"start_offset": 4,
"end_offset": 11,
"label": "dis"
}
] |
Klinefelter综合征青春期血促性腺激素明显升高，睾酮水平较低，而青春期发育延迟者处于未发育水平，无促性腺激素升高。 | [
{
"id": 0,
"entity": "Klinefelter综合征",
"start_offset": 0,
"end_offset": 14,
"label": "dis"
},
{
"id": 1,
"entity": "青春期血促性腺激素明显升高",
"start_offset": 14,
"end_offset": 27,
"label": "sym"
},
{
"id": 2,
"entity": "睾酮水平较低",
"start_offset": 28,
"end_offset": 34,
"label": "sym"
},
{
"id": 3,
"entity": "无促性腺激素升高",
"start_offset": 52,
"end_offset": 60,
"label": "sym"
}
] |
如对本症患者在无促性腺激素升高活体组织检查，可见曲细精管玻璃样变，其睾丸间质细胞（Legdig细胞）虽有增加，但内分泌【治疗】患者自11～12岁开始应进行雄激素疗法。 | [
{
"id": 0,
"entity": "无促性腺激素升高",
"start_offset": 7,
"end_offset": 15,
"label": "sym"
},
{
"id": 1,
"entity": "活体组织检查",
"start_offset": 15,
"end_offset": 21,
"label": "pro"
},
{
"id": 2,
"entity": "睾丸间质细胞",
"start_offset": 34,
"end_offset": 40,
"label": "bod"
},
{
"id": 3,
"entity": "Legdig细胞",
"start_offset": 41,
"end_offset": 49,
"label": "bod"
},
{
"id": 4,
"entity": "雄激素疗法",
"start_offset": 77,
"end_offset": 82,
"label": "pro"
}
] |
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