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临床上如果母亲无ITP却娩出先天性血小板减少的新生儿，患儿巨核细胞数增加，此时应考虑NAIT。 | [
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确诊的条件需要鉴定母亲的血小板缺乏同种特异性抗原，血清中存在同种血小板抗体。 | [
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病情不重时可给肾上腺皮质激素、丙种球蛋白静滴，症状重时可输注血小板浓缩制剂，输入母亲的血小板为最安全有效。 | [
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第二节发育特点儿童发育除了具备体格生长的三个特点之外，还具有下述三个特点：（一）发育是成熟的过程儿童在生长的同时，也在不断发育，随着神经系统的成长和功能分化，儿童的行为也逐渐发生改变。 | [
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儿童认知发育（cognitivedevelopment）从手和眼的感觉运动到具体运算，最终达到逻辑运算这样一个过程。 | [
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二、吸入NO的临床应用（一）用于临床治疗1.医用NO气体浓度［NO］一般为1000±50×10-6</sup>（ppm）；［NO<sub>2</sub>］＜10ppm；容器为铝合金钢瓶+不锈钢减压阀，压力5～10mPa（50～100大气压）。 | [
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2.用于NO/NO<sub>2</sub>浓度监测仪的定标气体［NO］为20～80ppm；［NO<sub>2</sub>］＜1ppm，一般每周校正，避免由于监测仪工作状态漂移导致的吸入NO浓度过高。 | [
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3.适应证新生儿低氧性呼吸衰竭和持续肺动脉高压续肺动脉高压，潜在适应证为儿童复杂先天性心脏病合并肺动脉高压，儿童和成人急性肺损伤（ALI）和急性呼吸窘迫综合征（ARDS）。 | [
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4.临床治疗研究标准①低氧血症性呼吸衰竭：呼吸机正压通气下，FiO<sub>2</sub>＞0.6，SpO<sub>2</sub>＜80%。 | [
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肺动脉高压：彩超，导管或临床诊断，以出现动脉导管、卵圆孔的右向左分流、三尖瓣反流等为依据。 | [
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③疗效判断：FiO2下降＞0.3，SpO<sub>2</sub>＞85%，PaO<sub>2</sub>＞50mmHg，PAP/SAP＜0.7。 | [
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（二）临床研究的结果对于足月和近足月新生儿（＞2500g、＞35周）研究的文献中，确定吸入NO可以迅速提高血氧，改善低氧血症，显著减少对ECMO的依赖，并可以减少在NICU治疗的总费用。 | [
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对于早产儿（500～2500g、＜35周）给予5ppm吸入NO治疗1～7天，可以迅速提高血氧，但不能显著减少病死率。 | [
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其死亡主要为极低出生体重和脏器发育不成熟。 | [
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吸入NO不加重颅内出血，但可以减轻发生慢性肺病的可能。 | [
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1.新生儿持续缺氧性呼吸衰竭伴肺动脉高压症（PPHN）多中心临床对照试验证实，吸入NO对于足月和近足月新生儿PPHN和危重缺氧性呼吸衰竭有效，主要效果表现为迅速降低肺动脉压、改善肺血流，减少对体外膜肺治疗的依赖，并弥补了机械通气和肺表面活性物质治疗效果不能持久的缺点，也反映出对近足月和足月新生儿低氧性呼吸衰竭采用肺表面活性物质应慎重考虑。 | [
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2.早产儿RDS可以在应用肺表面活性物质无效并存在肺动脉高压时使用，但必须密切观察是否出现颅内出血症状。 | [
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目前是否可以对有指征的早产儿常规应用吸入NO有待研究。 | [
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近年研究发现，新生儿出生后24小时呼出气NO浓度在3×10<sup>-6</sup>～5×10<sup>-6</sup>ppm，1周后下降，主要来自于鼻窦。 | [
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提示出生早期自身NO对于调节肺血管张力起过渡性生理代偿作用，出生后立即气道插管机械通气的新生儿可能存在自身吸入和利用NO的障碍，可考虑将吸入NO作为替代治疗。 | [
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3.支气管肺发育不良（BPD）对于生后1～2周持续依赖机械通气和高浓度氧的新生儿，持续吸入低浓度NO对预防BPD发生有一定作用。 | [
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有试验对预计长期呼吸机治疗小儿给予预防性吸入NO，但是已有的报道疗效不一。 | [
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4.治疗方案和疗效观察目前治疗原发和继发的PPHN，起始NO浓度一般在10×10<sup>-6</sup>～20×10<sup>-6</sup>（10～20ppm），长时间吸入则降到5×10<sup>-6</sup>～10×10<sup>-6</sup>，甚至1×10<sup>-6</sup>～3×10<sup>-6</sup>。 | [
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临床判断是否对吸入NO有反应，包括多普勒彩超确定肺外分流的改善、肺动脉压的下降，经皮氧饱和度和动脉氧分压的上升，血气参数的改善，可以将吸入氧浓度和呼吸机参数的下调等，作为临床治疗有效的依据。 | [
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可能原因为：①肺泡扩张不够，可以用CPAP、高频通气治疗，或应用气道滴入肺表面活性物质，使肺泡复张；②高铁血红蛋白血症，一般MetHb＞3%可以有明显症状，可以降低吸入NO，如效果不佳，可以用维生素C、亚甲蓝（methyleneblue）或输血，以纠正；③肺血管器质性病变，对NO没有反应。 | [
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"label": "pro"
},
{
"id": 5,
"entity": "肺泡",
"start_offset": 45,
"end_offset": 47,
"label": "bod"
},
{
"id": 6,
"entity": "肺泡复张",
"start_offset": 45,
"end_offset": 49,
"label": "sym"
},
{
"id": 7,
"entity": "高铁血红蛋白血症",
"start_offset": 51,
"end_offset": 59,
"label": "dis"
},
{
"id": 8,
"entity": "吸入NO",
"start_offset": 82,
"end_offset": 86,
"label": "pro"
},
{
"id": 9,
"entity": "维生素C",
"start_offset": 96,
"end_offset": 100,
"label": "dru"
},
{
"id": 10,
"entity": "亚甲蓝",
"start_offset": 101,
"end_offset": 104,
"label": "dru"
},
{
"id": 11,
"entity": "methyleneblue",
"start_offset": 105,
"end_offset": 118,
"label": "dru"
},
{
"id": 12,
"entity": "输血",
"start_offset": 120,
"end_offset": 122,
"label": "pro"
},
{
"id": 13,
"entity": "肺血管",
"start_offset": 128,
"end_offset": 131,
"label": "bod"
},
{
"id": 14,
"entity": "肺血管器质性病变",
"start_offset": 128,
"end_offset": 136,
"label": "sym"
}
] |
2.NO依赖在治疗中不能将NO浓度降低，或停止NO后立即出现低氧血症危象。 | [
{
"id": 0,
"entity": "低氧血症",
"start_offset": 30,
"end_offset": 34,
"label": "dis"
}
] |
目前由于大多数采用低浓度NO吸入（＜10ppm），因此在3～7天内撤除NO一般没有困难。 | [
{
"id": 0,
"entity": "低浓度NO吸入",
"start_offset": 9,
"end_offset": 16,
"label": "pro"
}
] |
撤除后可以短时间适当提高FiO<sub>2</sub>0.1～0.2，防止低氧血症。 | [
{
"id": 0,
"entity": "低氧血症",
"start_offset": 37,
"end_offset": 41,
"label": "dis"
}
] |
呼吸机参数不必大调。 | [
{
"id": 0,
"entity": "呼吸机",
"start_offset": 0,
"end_offset": 3,
"label": "equ"
}
] |
如果出现低氧血症和肺动脉高压危象，可以再将NO接入。 | [
{
"id": 0,
"entity": "低氧血症",
"start_offset": 4,
"end_offset": 8,
"label": "dis"
},
{
"id": 1,
"entity": "肺动脉高压",
"start_offset": 9,
"end_offset": 14,
"label": "dis"
}
] |
第七节肺的局部免疫和防御机制呼吸道的主要功能除了调节气道阻力外，还有保护作用，主要为加温湿化作用和过滤清洁作用。 | [
{
"id": 0,
"entity": "肺",
"start_offset": 3,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "呼吸道",
"start_offset": 14,
"end_offset": 17,
"label": "bod"
},
{
"id": 2,
"entity": "气道",
"start_offset": 26,
"end_offset": 28,
"label": "bod"
}
] |
（一）气道的黏膜屏障1.黏膜屏障功能气管和支气管内壁黏膜层为假复层纤毛柱状上皮细胞，主要由纤毛上皮细胞、杯状细胞，基底细胞、神经内分泌细胞等组成，覆盖大、中、小支气管。 | [
{
"id": 0,
"entity": "气道",
"start_offset": 3,
"end_offset": 5,
"label": "bod"
},
{
"id": 1,
"entity": "黏膜",
"start_offset": 6,
"end_offset": 8,
"label": "bod"
},
{
"id": 2,
"entity": "黏膜",
"start_offset": 12,
"end_offset": 14,
"label": "bod"
},
{
"id": 3,
"entity": "气管",
"start_offset": 18,
"end_offset": 20,
"label": "bod"
},
{
"id": 4,
"entity": "支气管内壁黏膜",
"start_offset": 21,
"end_offset": 28,
"label": "bod"
},
{
"id": 5,
"entity": "假复层纤毛柱状上皮细胞",
"start_offset": 30,
"end_offset": 41,
"label": "bod"
},
{
"id": 6,
"entity": "纤毛上皮细胞",
"start_offset": 45,
"end_offset": 51,
"label": "bod"
},
{
"id": 7,
"entity": "杯状细胞",
"start_offset": 52,
"end_offset": 56,
"label": "bod"
},
{
"id": 8,
"entity": "基底细胞",
"start_offset": 57,
"end_offset": 61,
"label": "bod"
},
{
"id": 9,
"entity": "神经内分泌细胞",
"start_offset": 62,
"end_offset": 69,
"label": "bod"
},
{
"id": 10,
"entity": "大、中、小支气管",
"start_offset": 75,
"end_offset": 83,
"label": "bod"
}
] |
黏膜下层分布有浆液腺、黏液腺等结构。 | [
{
"id": 0,
"entity": "黏膜",
"start_offset": 0,
"end_offset": 2,
"label": "bod"
},
{
"id": 1,
"entity": "浆液腺",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "黏液腺",
"start_offset": 11,
"end_offset": 14,
"label": "bod"
}
] |
随支气管逐级分支，柱状上皮和杯状细胞逐渐减少，至细支气管时，由假复层纤毛柱状上皮过渡为单层柱状上皮细胞和Clara细胞为主。 | [
{
"id": 0,
"entity": "支气管",
"start_offset": 1,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "柱状上皮",
"start_offset": 9,
"end_offset": 13,
"label": "bod"
},
{
"id": 2,
"entity": "杯状细胞",
"start_offset": 14,
"end_offset": 18,
"label": "bod"
},
{
"id": 3,
"entity": "细支气管",
"start_offset": 24,
"end_offset": 28,
"label": "bod"
},
{
"id": 4,
"entity": "假复层纤毛柱状上皮",
"start_offset": 31,
"end_offset": 40,
"label": "bod"
},
{
"id": 5,
"entity": "单层柱状上皮细胞",
"start_offset": 43,
"end_offset": 51,
"label": "bod"
},
{
"id": 6,
"entity": "Clara细胞",
"start_offset": 52,
"end_offset": 59,
"label": "bod"
}
] |
气道上皮细胞间、细胞和基底膜的连接依赖紧密连接、桥粒、半桥粒、中间连接等结构，起到黏附连接作用。 | [
{
"id": 0,
"entity": "气道上皮细胞",
"start_offset": 0,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "细胞",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "基底膜",
"start_offset": 11,
"end_offset": 14,
"label": "bod"
}
] |
这些细胞的增殖、分化及功能发挥与细胞黏附分子和细胞外基质相关，这些黏附分子包括整合素（integrin）、细胞外基质蛋白（tenascin）、选择素（selectin）、细胞间黏附分子（intercellularadhesionmolecules，ICAMs）、纤维连接蛋白（fibronectin）、钙依赖黏附分子（cadherin）等。 | [
{
"id": 0,
"entity": "细胞",
"start_offset": 2,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "细胞黏附分子",
"start_offset": 16,
"end_offset": 22,
"label": "bod"
},
{
"id": 2,
"entity": "细胞外基质",
"start_offset": 23,
"end_offset": 28,
"label": "bod"
},
{
"id": 3,
"entity": "整合素",
"start_offset": 39,
"end_offset": 42,
"label": "bod"
},
{
"id": 4,
"entity": "integrin",
"start_offset": 43,
"end_offset": 51,
"label": "bod"
},
{
"id": 5,
"entity": "细胞外基质蛋白",
"start_offset": 53,
"end_offset": 60,
"label": "bod"
},
{
"id": 6,
"entity": "tenascin",
"start_offset": 61,
"end_offset": 69,
"label": "bod"
},
{
"id": 7,
"entity": "选择素",
"start_offset": 71,
"end_offset": 74,
"label": "bod"
},
{
"id": 8,
"entity": "selectin",
"start_offset": 75,
"end_offset": 83,
"label": "bod"
},
{
"id": 9,
"entity": "细胞间黏附分子",
"start_offset": 85,
"end_offset": 92,
"label": "bod"
},
{
"id": 10,
"entity": "intercellularadhesionmolecules",
"start_offset": 93,
"end_offset": 123,
"label": "bod"
},
{
"id": 11,
"entity": "ICAMs",
"start_offset": 124,
"end_offset": 129,
"label": "bod"
},
{
"id": 12,
"entity": "纤维连接蛋白",
"start_offset": 131,
"end_offset": 137,
"label": "bod"
},
{
"id": 13,
"entity": "fibronectin",
"start_offset": 138,
"end_offset": 149,
"label": "bod"
},
{
"id": 14,
"entity": "钙依赖黏附分子",
"start_offset": 151,
"end_offset": 158,
"label": "bod"
},
{
"id": 15,
"entity": "cadherin",
"start_offset": 159,
"end_offset": 167,
"label": "bod"
}
] |
细胞外基质（extracellularmetrix，ECM）包括胶原蛋白（collagen）、弹力蛋白（elastin）、蛋白多糖（proteoglycan）类如透明质酸、硫酸软骨素、肝素等，以及ECM糖蛋白如基膜粘连蛋白（laminin）。 | [
{
"id": 0,
"entity": "细胞外基质",
"start_offset": 0,
"end_offset": 5,
"label": "bod"
},
{
"id": 1,
"entity": "extracellularmetrix",
"start_offset": 6,
"end_offset": 25,
"label": "bod"
},
{
"id": 2,
"entity": "ECM",
"start_offset": 26,
"end_offset": 29,
"label": "bod"
},
{
"id": 3,
"entity": "胶原蛋白",
"start_offset": 32,
"end_offset": 36,
"label": "bod"
},
{
"id": 4,
"entity": "collagen",
"start_offset": 37,
"end_offset": 45,
"label": "bod"
},
{
"id": 5,
"entity": "elastin",
"start_offset": 52,
"end_offset": 59,
"label": "bod"
},
{
"id": 6,
"entity": "蛋白多糖",
"start_offset": 61,
"end_offset": 65,
"label": "bod"
},
{
"id": 7,
"entity": "proteoglycan",
"start_offset": 66,
"end_offset": 78,
"label": "bod"
},
{
"id": 8,
"entity": "透明质酸",
"start_offset": 81,
"end_offset": 85,
"label": "bod"
},
{
"id": 9,
"entity": "硫酸软骨素",
"start_offset": 86,
"end_offset": 91,
"label": "bod"
},
{
"id": 10,
"entity": "肝素",
"start_offset": 92,
"end_offset": 94,
"label": "bod"
},
{
"id": 11,
"entity": "ECM糖蛋白",
"start_offset": 98,
"end_offset": 104,
"label": "bod"
},
{
"id": 12,
"entity": "基膜粘连蛋白",
"start_offset": 105,
"end_offset": 111,
"label": "bod"
},
{
"id": 13,
"entity": "laminin",
"start_offset": 112,
"end_offset": 119,
"label": "bod"
}
] |
这些蛋白影响细胞间黏附、迁移、分化，参与细胞骨架构建及形态形成，在肺发育、损伤、修复中起重要的控制与调节作用。 | [
{
"id": 0,
"entity": "蛋白",
"start_offset": 2,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "细胞",
"start_offset": 6,
"end_offset": 8,
"label": "bod"
},
{
"id": 2,
"entity": "细胞",
"start_offset": 20,
"end_offset": 22,
"label": "bod"
},
{
"id": 3,
"entity": "肺",
"start_offset": 33,
"end_offset": 34,
"label": "bod"
}
] |
上皮细胞以及细胞下基质作为连续性界面，通过生物物理作用而成为生理屏障。 | [
{
"id": 0,
"entity": "上皮细胞",
"start_offset": 0,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "细胞下基质",
"start_offset": 6,
"end_offset": 11,
"label": "bod"
}
] |
肺泡的黏膜屏障作用则主要依靠肺泡上皮细胞。 | [
{
"id": 0,
"entity": "肺泡",
"start_offset": 0,
"end_offset": 2,
"label": "bod"
},
{
"id": 1,
"entity": "黏膜",
"start_offset": 3,
"end_offset": 5,
"label": "bod"
},
{
"id": 2,
"entity": "肺泡上皮细胞",
"start_offset": 14,
"end_offset": 20,
"label": "bod"
}
] |
2.黏液-纤毛保护机制气道上皮细胞表面有大量黏液分泌，与上皮细胞端面的纤毛形成黏液-纤毛保护机制，并通过咳嗽作用，形成渐进式向上清除活动，可以将每日吸入的大量灰尘、颗粒、气雾、病原体清除出体外，或经咽喉部吞咽而清除。 | [
{
"id": 0,
"entity": "气道上皮细胞",
"start_offset": 11,
"end_offset": 17,
"label": "bod"
},
{
"id": 1,
"entity": "上皮细胞",
"start_offset": 28,
"end_offset": 32,
"label": "bod"
},
{
"id": 2,
"entity": "咳嗽",
"start_offset": 52,
"end_offset": 54,
"label": "pro"
},
{
"id": 3,
"entity": "病原体",
"start_offset": 88,
"end_offset": 91,
"label": "mic"
},
{
"id": 4,
"entity": "咽喉部",
"start_offset": 99,
"end_offset": 102,
"label": "bod"
}
] |
纤毛结构发育上的异常、病理性损伤、呼吸管理不善导致纤毛结构和功能障碍，会影响黏液-纤毛保护功能。 | [
{
"id": 0,
"entity": "纤毛结构和功能障碍",
"start_offset": 25,
"end_offset": 34,
"label": "dis"
}
] |
3.气道上皮分泌抗微生物活性物质气道上皮具有分泌抗微生物活性物质，溶菌酶、分泌型免疫球蛋白A，肺表面活性物质蛋白A、D、乳铁蛋白等，通过溶菌、中和、调理等作用，直接或间接抑制病原体侵袭，对气道上皮起保护作用。 | [
{
"id": 0,
"entity": "气道",
"start_offset": 2,
"end_offset": 4,
"label": "bod"
},
{
"id": 1,
"entity": "抗微生物活性物质",
"start_offset": 8,
"end_offset": 16,
"label": "bod"
},
{
"id": 2,
"entity": "气道",
"start_offset": 16,
"end_offset": 18,
"label": "bod"
},
{
"id": 3,
"entity": "抗微生物活性物质",
"start_offset": 24,
"end_offset": 32,
"label": "bod"
},
{
"id": 4,
"entity": "溶菌酶",
"start_offset": 33,
"end_offset": 36,
"label": "bod"
},
{
"id": 5,
"entity": "分泌型免疫球蛋白A",
"start_offset": 37,
"end_offset": 46,
"label": "bod"
},
{
"id": 6,
"entity": "肺表面活性物质蛋白A、D、乳铁蛋白",
"start_offset": 47,
"end_offset": 64,
"label": "bod"
},
{
"id": 7,
"entity": "病原体",
"start_offset": 87,
"end_offset": 90,
"label": "mic"
},
{
"id": 8,
"entity": "气道",
"start_offset": 94,
"end_offset": 96,
"label": "bod"
}
] |
4.抗过氧化物质气道上皮具有抗氧化活性物质，可以对抗氧自由基的细胞毒副作用，维持上皮细胞结构功能的完整。 | [
{
"id": 0,
"entity": "抗过氧化物质",
"start_offset": 2,
"end_offset": 8,
"label": "bod"
},
{
"id": 1,
"entity": "气道",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "抗氧化活性物质",
"start_offset": 14,
"end_offset": 21,
"label": "bod"
},
{
"id": 3,
"entity": "抗氧自由基",
"start_offset": 25,
"end_offset": 30,
"label": "bod"
},
{
"id": 4,
"entity": "上皮细胞",
"start_offset": 40,
"end_offset": 44,
"label": "bod"
}
] |
如谷胱甘肽氧化还原系统中的还原型谷胱甘肽，是上皮细胞重要的细胞抗氧化物质，帮助过氧化氢、脂过氧化物等还原；超氧化物歧化酶（SOD）使超氧自由基转变为过氧化氢；过氧化氢酶使过氧化氢还原为水。 | [
{
"id": 0,
"entity": "谷胱甘肽氧化还原系统",
"start_offset": 1,
"end_offset": 11,
"label": "bod"
},
{
"id": 1,
"entity": "还原型谷胱甘肽",
"start_offset": 13,
"end_offset": 20,
"label": "bod"
},
{
"id": 2,
"entity": "上皮细胞",
"start_offset": 22,
"end_offset": 26,
"label": "bod"
},
{
"id": 3,
"entity": "细胞抗氧化物质",
"start_offset": 29,
"end_offset": 36,
"label": "bod"
},
{
"id": 4,
"entity": "超氧化物歧化酶",
"start_offset": 53,
"end_offset": 60,
"label": "bod"
},
{
"id": 5,
"entity": "SOD",
"start_offset": 61,
"end_offset": 64,
"label": "bod"
},
{
"id": 6,
"entity": "过氧化氢酶",
"start_offset": 79,
"end_offset": 84,
"label": "bod"
}
] |
5.抗蛋白酶肺内抗蛋白酶如α1-抗胰蛋白酶、α1-抗糜蛋白酶均为特异性的肺内蛋白酶抑制物。 | [
{
"id": 0,
"entity": "抗蛋白酶",
"start_offset": 2,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "肺内抗蛋白酶",
"start_offset": 6,
"end_offset": 12,
"label": "bod"
},
{
"id": 2,
"entity": "α1-抗胰蛋白酶",
"start_offset": 13,
"end_offset": 21,
"label": "bod"
},
{
"id": 3,
"entity": "α1-抗糜蛋白酶",
"start_offset": 22,
"end_offset": 30,
"label": "bod"
},
{
"id": 4,
"entity": "肺内蛋白酶抑制物",
"start_offset": 36,
"end_offset": 44,
"label": "bod"
}
] |
如果抗蛋白酶和蛋白酶之间的平衡被破坏，则带来组织细胞的破坏。 | [
{
"id": 0,
"entity": "抗蛋白酶",
"start_offset": 2,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "蛋白酶",
"start_offset": 7,
"end_offset": 10,
"label": "bod"
},
{
"id": 2,
"entity": "组织细胞",
"start_offset": 22,
"end_offset": 26,
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}
] |
（二）特异性局部免疫分泌型IgA（sIgA）由气道黏膜下层浆细胞合成IgA和J链，然后经气道上皮细胞合成的分泌片段结合后而形成。 | [
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"entity": "分泌型IgA",
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{
"id": 1,
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{
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"entity": "气道黏膜",
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{
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{
"id": 4,
"entity": "气道上皮细胞",
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] |
在气道上皮表面发挥抑制外来抗原和一些细菌、病毒的作用。 | [
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{
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{
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"entity": "病毒",
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] |
新生儿和婴幼儿肺sIgA发育不完善，因此容易发生小气道的细菌或病毒感染。 | [
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"id": 0,
"entity": "肺sIgA",
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{
"id": 1,
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{
"id": 3,
"entity": "病毒",
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（三）肺泡巨噬细胞来源为骨髓幼单核细胞，经血流到达肺部后再发育成熟、转化而形成。 | [
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{
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直径约20～40μm，形态不规则，有伪足样突起，胞质含大量溶酶体、吞噬体。 | [
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{
"id": 1,
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肺泡巨噬细胞吞噬细菌、尘粒和衰老死亡细胞，参与对肺表面活性物质磷脂重摄取代谢循环，并具有抗肿瘤作用，成为机体重要的非特异性防御功能的一道防线。 | [
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{
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{
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{
"id": 3,
"entity": "肺表面活性物质",
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{
"id": 4,
"entity": "磷脂",
"start_offset": 31,
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"label": "bod"
}
] |
第二十章进行性脊髓性肌萎缩症进行性脊髓性肌萎缩症（progressivespinalmuscularatrophy，SMA）是一类由脊髓前角运动神经元和脑干运动神经核变性导致肌无力及肌萎缩的疾病。 | [
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"entity": "进行性脊髓性肌萎缩症",
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"id": 1,
"entity": "进行性脊髓性肌萎缩症",
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{
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{
"id": 4,
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{
"id": 5,
"entity": "运动神经元",
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{
"id": 6,
"entity": "脑干",
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{
"id": 7,
"entity": "运动神经核",
"start_offset": 78,
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"label": "bod"
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{
"id": 8,
"entity": "肌无力",
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"end_offset": 90,
"label": "dis"
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{
"id": 9,
"entity": "肌萎缩",
"start_offset": 91,
"end_offset": 94,
"label": "dis"
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] |
SMA为常染色体隐性遗传病，根据发病年龄和肌无力严重程度临床分为3型。 | [
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"id": 0,
"entity": "SMA",
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{
"id": 1,
"entity": "常染色体隐性遗传病",
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{
"id": 2,
"entity": "肌无力",
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【流行病学】本病是一较常见的常染色体隐性遗传性疾病，发生率约为1/10万，基因携带率为1/50。 | [
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【发病机制】1990年Gillian等报道SMA基因位点在染色体5q11.2-2.3。 | [
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{
"id": 1,
"entity": "染色体5q11.2-2.3",
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] |
1994年Meli等发现严重型SMA（Werdnig-Hoffmann型）患者在5q11.2-2.3发生较大的基因突变，而轻型患者（Kugelberg-Welander型）则无基因突变或突变较轻。 | [
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{
"id": 3,
"entity": "Kugelberg-Welander型",
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] |
目前发现的与SMA相关的基因有2种，即神经元凋亡抑制蛋白（neuronalapoptosisinhibitoryprotein，NAIP）基因和运动神经元（survivalmotoneuron，SMN）存活基因。 | [
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{
"id": 1,
"entity": "神经元凋亡抑制蛋白",
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"entity": "运动神经元",
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{
"id": 5,
"entity": "survivalmotoneuron",
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{
"id": 6,
"entity": "SMN",
"start_offset": 97,
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"label": "bod"
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] |
NAIP基因定位于5q13区，67%的SMA患者发生此基因突变，相比之下正常人群中突变率仅2%。 | [
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"entity": "NAIP基因",
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{
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"entity": "5q13区",
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{
"id": 2,
"entity": "SMA",
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] |
SMN基因也定位于5q13区，约98%以上的SMA患者发生此基因突变。 | [
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{
"id": 2,
"entity": "SMA",
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] |
5q13连锁的SMA患者中，96.4%显示SMN1外显子7和8或者外显子7出现纯合缺失。 | [
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"entity": "5q13连锁",
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{
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{
"id": 2,
"entity": "SMN1外显子7和8",
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] |
SMN基因有多种拷贝［SMNt（telomeric）、SMNc（centromeric）］，以及不同外显子缺失的遗传异质性，给SMA的研究带来了巨大的挑战。 | [
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"entity": "SMA",
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有关SMN基因拷贝数与临床症状的严重程度的相关性尚在观察中。 | [
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正常人的每个SMNt和SMNc都有2个等位基因，SMNt的两个等位基因的突变可能与疾病有关，而SMNc的突变与疾病很少或没有关联。 | [
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目前研究表明在部分SMA-Ⅱ型和SMA-Ⅲ型患者中SMNt转化为SMNc，意味着随着SMNc拷贝数增加，临床症状的严重程度降低。 | [
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{
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{
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"entity": "SMNc",
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] |
已知SMN基因的产物能与RNA结合蛋白相互作用，但其确切功能尚未阐明。 | [
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"entity": "SMN基因",
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{
"id": 1,
"entity": "RNA结合蛋白",
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与正常人群相比反应产物在SMA-Ⅰ型患者的神经元中缺失，而在SMA-Ⅱ型和SMA-Ⅲ型中减少。 | [
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{
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{
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{
"id": 3,
"entity": "SMA-Ⅲ型",
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] |
正是由于基因的突变及转化引起脊髓前角运动神经元和脑干运动神经核变性，最终导致肌无力和肌萎缩。 | [
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"entity": "脊髓前角运动神经元",
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{
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{
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{
"id": 3,
"entity": "肌萎缩",
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] |
【病理改变】各型SMA有不同的病理特点：（一）SMA-Ⅰ型肌肉病理特征是存在着大组分布的圆形萎缩肌纤维，常累及整个肌束亦见肥大纤维之中两型纤维均可受累并呈不完全同型肌群化萎缩肌纤维与那些未成熟纤维以及发育障碍与胚胎期肌纤维的外观相似，有作者称此为胚胎型或婴儿型肌纤维。 | [
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{
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{
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{
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{
"id": 4,
"entity": "肌束",
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{
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"entity": "常累及整个肌束",
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{
"id": 6,
"entity": "肥大纤维",
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{
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{
"id": 8,
"entity": "两型纤维",
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{
"id": 9,
"entity": "两型纤维均可受累",
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"label": "sym"
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{
"id": 10,
"entity": "肌群",
"start_offset": 82,
"end_offset": 84,
"label": "bod"
},
{
"id": 11,
"entity": "并呈不完全同型肌群化",
"start_offset": 75,
"end_offset": 85,
"label": "sym"
},
{
"id": 12,
"entity": "萎缩肌纤维",
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"label": "bod"
},
{
"id": 13,
"entity": "未成熟纤维",
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"end_offset": 98,
"label": "bod"
},
{
"id": 14,
"entity": "发育障碍与胚胎期肌纤维",
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"end_offset": 111,
"label": "bod"
},
{
"id": 15,
"entity": "胚胎型或婴儿型肌纤维",
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"end_offset": 133,
"label": "bod"
}
] |
（二）SMA-Ⅱ型肌肉病理形态改变类似SMA-Ⅰ型，但大组萎缩肌纤维不常见同型肌群化现象则更为突出继发性肌性损害改变，包括中央核增多肌纤维撕裂SMA-Ⅲ型本型在肌肉病理上可有多种表现。 | [
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{
"id": 1,
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{
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{
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{
"id": 4,
"entity": "大组萎缩肌纤维不常见",
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},
{
"id": 5,
"entity": "肌群",
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{
"id": 6,
"entity": "同型肌群化现象则更为突出",
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{
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"entity": "继发性肌性损害",
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{
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"entity": "中央核",
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{
"id": 9,
"entity": "中央核增多",
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{
"id": 10,
"entity": "肌纤维",
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{
"id": 11,
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{
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"label": "dis"
},
{
"id": 13,
"entity": "肌肉",
"start_offset": 80,
"end_offset": 82,
"label": "bod"
}
] |
某些病例仅显示轻微变化，如小组同型肌群化，少量萎缩肌纤维等；其形态大致正常。 | [
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"label": "sym"
},
{
"id": 2,
"entity": "形态大致正常",
"start_offset": 31,
"end_offset": 37,
"label": "sym"
}
] |
多数严重病例，肌肉活体组织检查表现与病期相关。 | [
{
"id": 0,
"entity": "肌肉活体组织检查",
"start_offset": 7,
"end_offset": 15,
"label": "pro"
}
] |
儿童早期，以萎缩小纤维为主可见同型肌群化以同型肌群化为主要特征合并成组或成束小点状萎缩肌纤维本型肌纤维肥大改变十分突出，直径可达100～150μm，常合并继发性肌原损害，包括纤维撕裂中央核改变NADH染色见蛾噬样指纹状纤维少量坏死和再生纤维巨噬细胞浸润间质脂肪结缔组织增生SMA-Ⅰ型、SMA-Ⅱ型以及SMA-Ⅲ型。 | [
{
"id": 0,
"entity": "萎缩小纤维",
"start_offset": 6,
"end_offset": 11,
"label": "bod"
},
{
"id": 1,
"entity": "以萎缩小纤维为主",
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},
{
"id": 2,
"entity": "同型肌群",
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"label": "bod"
},
{
"id": 3,
"entity": "可见同型肌群化",
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"label": "sym"
},
{
"id": 4,
"entity": "同型肌群",
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"end_offset": 25,
"label": "bod"
},
{
"id": 5,
"entity": "以同型肌群化为主要特征",
"start_offset": 20,
"end_offset": 31,
"label": "sym"
},
{
"id": 6,
"entity": "小点状萎缩肌纤维",
"start_offset": 38,
"end_offset": 46,
"label": "bod"
},
{
"id": 7,
"entity": "合并成组或成束小点状萎缩肌纤维",
"start_offset": 31,
"end_offset": 46,
"label": "sym"
},
{
"id": 8,
"entity": "本型肌纤维肥大",
"start_offset": 46,
"end_offset": 53,
"label": "sym"
},
{
"id": 9,
"entity": "常合并继发性肌原损害",
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"label": "sym"
},
{
"id": 10,
"entity": "纤维",
"start_offset": 87,
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"label": "bod"
},
{
"id": 11,
"entity": "纤维撕裂",
"start_offset": 87,
"end_offset": 91,
"label": "sym"
},
{
"id": 12,
"entity": "中央核",
"start_offset": 91,
"end_offset": 94,
"label": "bod"
},
{
"id": 13,
"entity": "中央核改变",
"start_offset": 91,
"end_offset": 96,
"label": "sym"
},
{
"id": 14,
"entity": "NADH",
"start_offset": 96,
"end_offset": 100,
"label": "bod"
},
{
"id": 15,
"entity": "NADH染色见蛾噬样",
"start_offset": 96,
"end_offset": 106,
"label": "sym"
},
{
"id": 16,
"entity": "纤维",
"start_offset": 109,
"end_offset": 111,
"label": "bod"
},
{
"id": 17,
"entity": "指纹状纤维",
"start_offset": 106,
"end_offset": 111,
"label": "sym"
},
{
"id": 18,
"entity": "少量坏死",
"start_offset": 111,
"end_offset": 115,
"label": "sym"
},
{
"id": 19,
"entity": "纤维",
"start_offset": 118,
"end_offset": 120,
"label": "bod"
},
{
"id": 20,
"entity": "再生纤维",
"start_offset": 116,
"end_offset": 120,
"label": "sym"
},
{
"id": 21,
"entity": "巨噬细胞",
"start_offset": 120,
"end_offset": 124,
"label": "bod"
},
{
"id": 22,
"entity": "巨噬细胞浸润",
"start_offset": 120,
"end_offset": 126,
"label": "sym"
},
{
"id": 23,
"entity": "间质脂肪结缔组织",
"start_offset": 126,
"end_offset": 134,
"label": "bod"
},
{
"id": 24,
"entity": "间质脂肪结缔组织增生",
"start_offset": 126,
"end_offset": 136,
"label": "sym"
},
{
"id": 25,
"entity": "SMA-Ⅰ型",
"start_offset": 136,
"end_offset": 142,
"label": "dis"
},
{
"id": 26,
"entity": "SMA-Ⅱ型",
"start_offset": 143,
"end_offset": 149,
"label": "dis"
},
{
"id": 27,
"entity": "SMA-Ⅲ型",
"start_offset": 151,
"end_offset": 157,
"label": "dis"
}
] |
（一）SMA-Ⅰ型也称为婴儿型脊髓性肌萎缩症或Werdnig-Hoffmann病。 | [
{
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"entity": "SMA-Ⅰ型",
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{
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},
{
"id": 2,
"entity": "Werdnig-Hoffmann病",
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"end_offset": 40,
"label": "dis"
}
] |
本型在三型中最为严重，约1/3病例在宫内发病，胎动变弱，半数在出生时或出生后的最初几个月即可发病，且几乎均在5个月内发病。 | [
{
"id": 0,
"entity": "胎动变弱",
"start_offset": 23,
"end_offset": 27,
"label": "sym"
}
] |
患者有严重肌无力（以四肢近端为主，躯干肌也可受累肌张力的低下括约肌的张力和感觉仍保持正常仰卧时腿呈蛙式肋间肌无力影响呼吸胸廓凹陷畸形双侧腹部脏器突出膈肌麻痹面肌和咀嚼肌无力吮吸及吞咽困难；由于不能摄取足够的能量，造成营养不良；除了手指和脚趾之外，无自发活动，常常有手指的细微震颤多发性微小肌阵挛（polyminimyoclonus）。 | [
{
"id": 0,
"entity": "严重肌无力",
"start_offset": 3,
"end_offset": 8,
"label": "dis"
},
{
"id": 1,
"entity": "四肢近端",
"start_offset": 10,
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"label": "bod"
},
{
"id": 2,
"entity": "躯干肌",
"start_offset": 17,
"end_offset": 20,
"label": "bod"
},
{
"id": 3,
"entity": "躯干肌也可受累",
"start_offset": 17,
"end_offset": 24,
"label": "sym"
},
{
"id": 4,
"entity": "肌张力",
"start_offset": 24,
"end_offset": 27,
"label": "ite"
},
{
"id": 5,
"entity": "肌张力的低下",
"start_offset": 24,
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"label": "sym"
},
{
"id": 6,
"entity": "括约肌的张力",
"start_offset": 30,
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"label": "ite"
},
{
"id": 7,
"entity": "括约肌的张力和感觉仍保持正常",
"start_offset": 30,
"end_offset": 44,
"label": "sym"
},
{
"id": 8,
"entity": "腿",
"start_offset": 47,
"end_offset": 48,
"label": "bod"
},
{
"id": 9,
"entity": "仰卧时腿呈蛙式",
"start_offset": 44,
"end_offset": 51,
"label": "sym"
},
{
"id": 10,
"entity": "肋间肌无力",
"start_offset": 51,
"end_offset": 56,
"label": "dis"
},
{
"id": 11,
"entity": "肋间肌无力影响呼吸",
"start_offset": 51,
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"label": "sym"
},
{
"id": 12,
"entity": "胸廓",
"start_offset": 60,
"end_offset": 62,
"label": "bod"
},
{
"id": 13,
"entity": "胸廓凹陷畸形",
"start_offset": 60,
"end_offset": 66,
"label": "sym"
},
{
"id": 14,
"entity": "双侧腹部脏器",
"start_offset": 66,
"end_offset": 72,
"label": "bod"
},
{
"id": 15,
"entity": "双侧腹部脏器突出",
"start_offset": 66,
"end_offset": 74,
"label": "sym"
},
{
"id": 16,
"entity": "膈肌",
"start_offset": 74,
"end_offset": 76,
"label": "bod"
},
{
"id": 17,
"entity": "膈肌麻痹",
"start_offset": 74,
"end_offset": 78,
"label": "sym"
},
{
"id": 18,
"entity": "面肌",
"start_offset": 78,
"end_offset": 80,
"label": "bod"
},
{
"id": 19,
"entity": "咀嚼肌",
"start_offset": 81,
"end_offset": 84,
"label": "bod"
},
{
"id": 20,
"entity": "面肌和咀嚼肌无力",
"start_offset": 78,
"end_offset": 86,
"label": "sym"
},
{
"id": 21,
"entity": "吮吸及吞咽困难",
"start_offset": 86,
"end_offset": 93,
"label": "sym"
},
{
"id": 22,
"entity": "营养不良",
"start_offset": 108,
"end_offset": 112,
"label": "sym"
},
{
"id": 23,
"entity": "手指",
"start_offset": 115,
"end_offset": 117,
"label": "bod"
},
{
"id": 24,
"entity": "脚趾",
"start_offset": 118,
"end_offset": 120,
"label": "bod"
},
{
"id": 25,
"entity": "手指",
"start_offset": 132,
"end_offset": 134,
"label": "bod"
},
{
"id": 26,
"entity": "手指的细微震颤",
"start_offset": 132,
"end_offset": 139,
"label": "sym"
},
{
"id": 27,
"entity": "多发性微小肌阵挛",
"start_offset": 139,
"end_offset": 147,
"label": "dis"
},
{
"id": 28,
"entity": "polyminimyoclonus",
"start_offset": 148,
"end_offset": 165,
"label": "dis"
}
] |
舌肌束颤较为常见腱反射常常消失呼吸功能不全误吸，任何轻微的上呼吸道感染可迅速演变为重症肺炎，危及生命。 | [
{
"id": 0,
"entity": "舌肌",
"start_offset": 0,
"end_offset": 2,
"label": "bod"
},
{
"id": 1,
"entity": "舌肌束颤较为常见",
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},
{
"id": 2,
"entity": "腱",
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},
{
"id": 3,
"entity": "腱反射常常消失",
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},
{
"id": 4,
"entity": "呼吸功能",
"start_offset": 15,
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"label": "ite"
},
{
"id": 5,
"entity": "呼吸功能不全",
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},
{
"id": 6,
"entity": "误吸",
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"label": "sym"
},
{
"id": 7,
"entity": "上呼吸道感染",
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"end_offset": 35,
"label": "dis"
},
{
"id": 8,
"entity": "重症肺炎",
"start_offset": 41,
"end_offset": 45,
"label": "dis"
}
] |
患者的社会交往能力和运动功能的丧失有明显差异。 | [
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"id": 0,
"entity": "交往能力",
"start_offset": 5,
"end_offset": 9,
"label": "ite"
},
{
"id": 1,
"entity": "运动功能",
"start_offset": 10,
"end_offset": 14,
"label": "ite"
}
] |
（二）SMA-Ⅱ型也称为少年型SMA、中间型SMA或慢性SMA，发病较Ⅰ型稍迟，多于1岁内起病。 | [
{
"id": 0,
"entity": "SMA-Ⅱ型",
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"label": "dis"
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{
"id": 1,
"entity": "少年型SMA",
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"label": "dis"
},
{
"id": 2,
"entity": "中间型SMA",
"start_offset": 19,
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"label": "dis"
},
{
"id": 3,
"entity": "慢性SMA",
"start_offset": 26,
"end_offset": 31,
"label": "dis"
}
] |
患儿在6～8个月时生长发育正常，多数病例表现以近端为主的严重肌无力下肢重于上肢多发性微小肌阵挛呼吸肌以及吞咽肌不受累括约肌功能正常SMA-Ⅲ型也称为Wohlfart-Kugelberg-Welander综合征或轻度SMA，是SMA中表现最轻的一类。 | [
{
"id": 0,
"entity": "严重肌无力",
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"end_offset": 33,
"label": "dis"
},
{
"id": 1,
"entity": "以近端为主的严重肌无力",
"start_offset": 22,
"end_offset": 33,
"label": "sym"
},
{
"id": 2,
"entity": "下肢",
"start_offset": 33,
"end_offset": 35,
"label": "bod"
},
{
"id": 3,
"entity": "上肢",
"start_offset": 37,
"end_offset": 39,
"label": "bod"
},
{
"id": 4,
"entity": "下肢重于上肢",
"start_offset": 33,
"end_offset": 39,
"label": "sym"
},
{
"id": 5,
"entity": "微小肌",
"start_offset": 42,
"end_offset": 45,
"label": "bod"
},
{
"id": 6,
"entity": "多发性微小肌阵挛",
"start_offset": 39,
"end_offset": 47,
"label": "sym"
},
{
"id": 7,
"entity": "呼吸肌",
"start_offset": 47,
"end_offset": 50,
"label": "bod"
},
{
"id": 8,
"entity": "吞咽肌",
"start_offset": 52,
"end_offset": 55,
"label": "bod"
},
{
"id": 9,
"entity": "呼吸肌以及吞咽肌不受累",
"start_offset": 47,
"end_offset": 58,
"label": "sym"
},
{
"id": 10,
"entity": "括约肌",
"start_offset": 58,
"end_offset": 61,
"label": "bod"
},
{
"id": 11,
"entity": "括约肌功能正常",
"start_offset": 58,
"end_offset": 65,
"label": "sym"
},
{
"id": 12,
"entity": "SMA-Ⅲ型",
"start_offset": 65,
"end_offset": 71,
"label": "dis"
},
{
"id": 13,
"entity": "Wohlfart-Kugelberg-Welander综合征",
"start_offset": 74,
"end_offset": 104,
"label": "dis"
},
{
"id": 14,
"entity": "轻度SMA",
"start_offset": 105,
"end_offset": 110,
"label": "dis"
},
{
"id": 15,
"entity": "SMA",
"start_offset": 112,
"end_offset": 115,
"label": "dis"
}
] |
能行走的SMA-Ⅲ型患儿可出现蹒跚步态，腰椎前突腹部凸起腱反射可有可无肌无力的发病年龄密切相关，2岁前发病者将在15岁左右不能行走，2岁后发病者可一直保持行走能力至50岁左右。 | [
{
"id": 0,
"entity": "SMA-Ⅲ型",
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"end_offset": 10,
"label": "dis"
},
{
"id": 1,
"entity": "蹒跚步态",
"start_offset": 15,
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},
{
"id": 2,
"entity": "腰椎",
"start_offset": 20,
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"label": "bod"
},
{
"id": 3,
"entity": "腰椎前突",
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},
{
"id": 4,
"entity": "腹部",
"start_offset": 24,
"end_offset": 26,
"label": "bod"
},
{
"id": 5,
"entity": "腹部凸起",
"start_offset": 24,
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"label": "sym"
},
{
"id": 6,
"entity": "腱",
"start_offset": 28,
"end_offset": 29,
"label": "bod"
},
{
"id": 7,
"entity": "腱反射可有可无",
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"end_offset": 35,
"label": "sym"
},
{
"id": 8,
"entity": "肌无力",
"start_offset": 35,
"end_offset": 38,
"label": "dis"
}
] |
大量的前瞻性临床研究表明，SMA-Ⅱ型和Ⅲ型在数年内肌无力症状进展缓慢或没有进展。 | [
{
"id": 0,
"entity": "SMA-Ⅱ型",
"start_offset": 13,
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},
{
"id": 1,
"entity": "肌无力",
"start_offset": 26,
"end_offset": 29,
"label": "dis"
}
] |
另外，不典型SMA进行性延髓麻痹（Fazio-Londe病），患者脑干运动核进行性受损数量逐渐减少，引起进行性延髓麻痹，但不伴或很少伴有脊髓前角运动神经元受损现象明显的面肌无力脑神经运动神经核受累症状脑神经以下的神经核，眼外肌一般不受累。 | [
{
"id": 0,
"entity": "不典型SMA进行性延髓麻痹",
"start_offset": 3,
"end_offset": 16,
"label": "dis"
},
{
"id": 1,
"entity": "Fazio-Londe病",
"start_offset": 17,
"end_offset": 29,
"label": "dis"
},
{
"id": 2,
"entity": "脑干运动核",
"start_offset": 33,
"end_offset": 38,
"label": "bod"
},
{
"id": 3,
"entity": "脑干运动核进行性受损",
"start_offset": 33,
"end_offset": 43,
"label": "sym"
},
{
"id": 4,
"entity": "数量逐渐减少",
"start_offset": 43,
"end_offset": 49,
"label": "sym"
},
{
"id": 5,
"entity": "进行性延髓麻痹",
"start_offset": 52,
"end_offset": 59,
"label": "dis"
},
{
"id": 6,
"entity": "脊髓前角运动神经元",
"start_offset": 68,
"end_offset": 77,
"label": "bod"
},
{
"id": 7,
"entity": "伴有脊髓前角运动神经元受损现象",
"start_offset": 66,
"end_offset": 81,
"label": "sym"
},
{
"id": 8,
"entity": "面肌",
"start_offset": 84,
"end_offset": 86,
"label": "bod"
},
{
"id": 9,
"entity": "明显的面肌无力",
"start_offset": 81,
"end_offset": 88,
"label": "sym"
},
{
"id": 10,
"entity": "脑神经",
"start_offset": 88,
"end_offset": 91,
"label": "bod"
},
{
"id": 11,
"entity": "脑神经运动神经核受累症状",
"start_offset": 88,
"end_offset": 100,
"label": "sym"
},
{
"id": 12,
"entity": "脑神经",
"start_offset": 100,
"end_offset": 103,
"label": "bod"
},
{
"id": 13,
"entity": "神经核",
"start_offset": 106,
"end_offset": 109,
"label": "bod"
},
{
"id": 14,
"entity": "眼外肌",
"start_offset": 110,
"end_offset": 113,
"label": "bod"
}
] |
最近，分子生物学研究证实至少有部分SMA患者可伴有关节屈曲呼吸衰竭和关节屈曲SMN基因缺失，而另外2名无关节挛缩的婴儿无SMN基因缺失。 | [
{
"id": 0,
"entity": "SMA",
"start_offset": 17,
"end_offset": 20,
"label": "dis"
},
{
"id": 1,
"entity": "关节",
"start_offset": 25,
"end_offset": 27,
"label": "bod"
},
{
"id": 2,
"entity": "关节屈曲",
"start_offset": 25,
"end_offset": 29,
"label": "sym"
},
{
"id": 3,
"entity": "呼吸衰竭",
"start_offset": 29,
"end_offset": 33,
"label": "dis"
},
{
"id": 4,
"entity": "关节",
"start_offset": 34,
"end_offset": 36,
"label": "bod"
},
{
"id": 5,
"entity": "关节屈曲",
"start_offset": 34,
"end_offset": 38,
"label": "sym"
},
{
"id": 6,
"entity": "SMN基因",
"start_offset": 38,
"end_offset": 43,
"label": "bod"
},
{
"id": 7,
"entity": "SMN基因",
"start_offset": 60,
"end_offset": 65,
"label": "bod"
}
] |
这些发现提示伴有关节弯曲肌无力或肌张力低下SMN基因突变的检测。 | [
{
"id": 0,
"entity": "关节",
"start_offset": 8,
"end_offset": 10,
"label": "bod"
},
{
"id": 1,
"entity": "关节弯曲",
"start_offset": 8,
"end_offset": 12,
"label": "sym"
},
{
"id": 2,
"entity": "肌无力",
"start_offset": 12,
"end_offset": 15,
"label": "dis"
},
{
"id": 3,
"entity": "肌张力",
"start_offset": 16,
"end_offset": 19,
"label": "ite"
},
{
"id": 4,
"entity": "肌张力低下",
"start_offset": 16,
"end_offset": 21,
"label": "sym"
},
{
"id": 5,
"entity": "SMN基因",
"start_offset": 21,
"end_offset": 26,
"label": "bod"
}
] |
【实验室检查】（一）基因诊断自从SMN基因发现以来，SMA的诊断流程发生了改变，可通过血DNA分析检测SMN基因突变，从而诊断疾病。 | [
{
"id": 0,
"entity": "基因诊断",
"start_offset": 10,
"end_offset": 14,
"label": "pro"
},
{
"id": 1,
"entity": "SMN基因",
"start_offset": 16,
"end_offset": 21,
"label": "bod"
},
{
"id": 2,
"entity": "SMA",
"start_offset": 26,
"end_offset": 29,
"label": "dis"
},
{
"id": 3,
"entity": "血DNA分析",
"start_offset": 43,
"end_offset": 49,
"label": "pro"
},
{
"id": 4,
"entity": "SMN基因",
"start_offset": 51,
"end_offset": 56,
"label": "bod"
}
] |
一旦发现SMN基因突变，则不需要再作其他检查，即可确诊为SMA。 | [
{
"id": 0,
"entity": "SMN基因",
"start_offset": 4,
"end_offset": 9,
"label": "bod"
},
{
"id": 1,
"entity": "SMA",
"start_offset": 28,
"end_offset": 31,
"label": "dis"
}
] |
Ⅲ型患者SMN基因缺失率低，通过检测SMN基因7、8外显子进行基因诊断时需谨慎。 | [
{
"id": 0,
"entity": "SMN基因",
"start_offset": 4,
"end_offset": 9,
"label": "bod"
},
{
"id": 1,
"entity": "SMN基因7、8外显子",
"start_offset": 18,
"end_offset": 29,
"label": "bod"
},
{
"id": 2,
"entity": "基因诊断",
"start_offset": 31,
"end_offset": 35,
"label": "pro"
}
] |
NAIP基因在SMA发病中的作用尚不清楚，有待进一步研究。 | [
{
"id": 0,
"entity": "NAIP基因",
"start_offset": 0,
"end_offset": 6,
"label": "bod"
},
{
"id": 1,
"entity": "SMA",
"start_offset": 7,
"end_offset": 10,
"label": "dis"
}
] |
如果无SMN基因缺失，需作下列一些传统的检查方法以明确诊断。 | [
{
"id": 0,
"entity": "SMN基因",
"start_offset": 3,
"end_offset": 8,
"label": "bod"
}
] |
检查方法有血清肌酸磷酸激酶（CK）测定；电生理检查包括神经传导速度（NCV）和肌电图（EMG）的检测及肌肉活体组织检查。 | [
{
"id": 0,
"entity": "血清肌酸磷酸激酶（CK）测定",
"start_offset": 5,
"end_offset": 19,
"label": "pro"
},
{
"id": 1,
"entity": "电生理检查包括神经传导速度",
"start_offset": 20,
"end_offset": 33,
"label": "pro"
},
{
"id": 2,
"entity": "NCV",
"start_offset": 34,
"end_offset": 37,
"label": "pro"
},
{
"id": 3,
"entity": "肌电图（EMG）的检测",
"start_offset": 39,
"end_offset": 50,
"label": "pro"
},
{
"id": 4,
"entity": "肌肉活体组织检查",
"start_offset": 51,
"end_offset": 59,
"label": "pro"
}
] |
（二）血清CPKSMA-Ⅰ型正常，Ⅱ型偶见增高。 | [
{
"id": 0,
"entity": "血清CPK",
"start_offset": 3,
"end_offset": 8,
"label": "bod"
},
{
"id": 1,
"entity": "SMA-Ⅰ型",
"start_offset": 8,
"end_offset": 14,
"label": "dis"
}
] |
Ⅲ型常增高，甚至可达正常值10倍以上，同工酶变化以MM为主，随着肌损害的发展而增加，至晚期肌肉萎缩时，CK才开始下降，这与肌营养不良不同，后者于婴幼儿期即达到高峰，以后渐降。 | [
{
"id": 0,
"entity": "同工酶",
"start_offset": 19,
"end_offset": 22,
"label": "bod"
},
{
"id": 1,
"entity": "肌肉萎缩",
"start_offset": 45,
"end_offset": 49,
"label": "dis"
},
{
"id": 2,
"entity": "CK",
"start_offset": 51,
"end_offset": 53,
"label": "bod"
},
{
"id": 3,
"entity": "肌营养不良",
"start_offset": 61,
"end_offset": 66,
"label": "dis"
}
] |
（三）电生理检查（NCV和EMG）电生理检查可反映SMA的严重程度和进展程度，但各型EMG改变相似，包括纤颤电位、复合运动单位动作电位（MVAPS）波幅时限增加，以及干扰相减少。 | [
{
"id": 0,
"entity": "电生理检查",
"start_offset": 3,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "NCV",
"start_offset": 9,
"end_offset": 12,
"label": "pro"
},
{
"id": 2,
"entity": "EMG",
"start_offset": 13,
"end_offset": 16,
"label": "pro"
},
{
"id": 3,
"entity": "电生理检查",
"start_offset": 17,
"end_offset": 22,
"label": "pro"
},
{
"id": 4,
"entity": "SMA",
"start_offset": 25,
"end_offset": 28,
"label": "dis"
},
{
"id": 5,
"entity": "EMG",
"start_offset": 42,
"end_offset": 45,
"label": "pro"
},
{
"id": 6,
"entity": "纤颤电位",
"start_offset": 52,
"end_offset": 56,
"label": "ite"
},
{
"id": 7,
"entity": "复合运动单位动作电位",
"start_offset": 57,
"end_offset": 67,
"label": "ite"
},
{
"id": 8,
"entity": "MVAPS",
"start_offset": 68,
"end_offset": 73,
"label": "ite"
}
] |
纤颤电位及正锐波在各型SMA均可出现，但SMA-Ⅰ型更明显。 | [
{
"id": 0,
"entity": "纤颤电位",
"start_offset": 0,
"end_offset": 4,
"label": "ite"
},
{
"id": 1,
"entity": "正锐波",
"start_offset": 5,
"end_offset": 8,
"label": "ite"
},
{
"id": 2,
"entity": "SMA",
"start_offset": 11,
"end_offset": 14,
"label": "dis"
},
{
"id": 3,
"entity": "SMA-Ⅰ型",
"start_offset": 20,
"end_offset": 26,
"label": "dis"
}
] |
随意运动时，各型SMA均见干扰相减少，尤其是Ⅰ型SMA仅呈单相。 | [
{
"id": 0,
"entity": "SMA",
"start_offset": 8,
"end_offset": 11,
"label": "dis"
},
{
"id": 1,
"entity": "Ⅰ型SMA",
"start_offset": 22,
"end_offset": 27,
"label": "dis"
}
] |
在较晚期Ⅲ型SMA可见类似于肌源性损害的低波幅多相电位。 | [
{
"id": 0,
"entity": "Ⅲ型SMA",
"start_offset": 4,
"end_offset": 9,
"label": "dis"
},
{
"id": 1,
"entity": "肌源性损害",
"start_offset": 14,
"end_offset": 19,
"label": "dis"
}
] |
电生理检查NCV示运动传导速度可减慢，在Ⅰ型减慢，而其他类型正常；感觉传导速度正常。 | [
{
"id": 0,
"entity": "电生理检查NCV",
"start_offset": 0,
"end_offset": 8,
"label": "pro"
},
{
"id": 1,
"entity": "运动传导速度可减慢",
"start_offset": 9,
"end_offset": 18,
"label": "sym"
},
{
"id": 2,
"entity": "感觉传导速度正常",
"start_offset": 33,
"end_offset": 41,
"label": "sym"
}
] |
检测婴儿运动NCV有一定难度，这是因为婴儿的肢体较小且刺激点和记录电极的距离较短，检测结果常常是正常传导速度，或有时比预期的传导速度还快。 | [
{
"id": 0,
"entity": "NCV",
"start_offset": 6,
"end_offset": 9,
"label": "pro"
},
{
"id": 1,
"entity": "肢体",
"start_offset": 22,
"end_offset": 24,
"label": "bod"
}
] |
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