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2.头颅CT（图7-7）最常见异常为脑积水，其次为脑梗死、脑萎缩、脑水肿、结核瘤、钙化灶及硬膜下积液，只有10%患儿无异常发现。
|
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"end_idx": 5,
"entity": "头颅CT",
"start_idx": 2,
"type": "pro"
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{
"end_idx": 20,
"entity": "脑积水",
"start_idx": 18,
"type": "dis"
},
{
"end_idx": 27,
"entity": "脑梗死",
"start_idx": 25,
"type": "dis"
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{
"end_idx": 31,
"entity": "脑萎缩",
"start_idx": 29,
"type": "dis"
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{
"end_idx": 35,
"entity": "脑水肿",
"start_idx": 33,
"type": "dis"
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{
"end_idx": 39,
"entity": "结核瘤",
"start_idx": 37,
"type": "dis"
},
{
"end_idx": 43,
"entity": "钙化灶",
"start_idx": 41,
"type": "sym"
},
{
"end_idx": 49,
"entity": "硬膜下积液",
"start_idx": 45,
"type": "dis"
}
] |
图7-3头颅CT：第3、4脑室及两侧室扩大，周围可见低密度，大脑半球各叶沟回变平，基底池窄，密度增高，中线结构无移位3.脑电图急性期患儿绝大多数脑电图异常弥漫性慢活动，不对称。
|
[
{
"end_idx": 7,
"entity": "头颅CT",
"start_idx": 4,
"type": "pro"
},
{
"end_idx": 14,
"entity": "第3、4脑室",
"start_idx": 9,
"type": "bod"
},
{
"end_idx": 20,
"entity": "第3、4脑室及两侧室扩大",
"start_idx": 9,
"type": "sym"
},
{
"end_idx": 18,
"entity": "两侧室",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 28,
"entity": "周围可见低密度",
"start_idx": 22,
"type": "sym"
},
{
"end_idx": 37,
"entity": "大脑半球各叶沟回",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 39,
"entity": "大脑半球各叶沟回变平",
"start_idx": 30,
"type": "sym"
},
{
"end_idx": 43,
"entity": "基底池",
"start_idx": 41,
"type": "bod"
},
{
"end_idx": 44,
"entity": "基底池窄",
"start_idx": 41,
"type": "sym"
},
{
"end_idx": 49,
"entity": "密度增高",
"start_idx": 46,
"type": "sym"
},
{
"end_idx": 54,
"entity": "中线结构",
"start_idx": 51,
"type": "bod"
},
{
"end_idx": 57,
"entity": "中线结构无移位",
"start_idx": 51,
"type": "sym"
},
{
"end_idx": 62,
"entity": "脑电图",
"start_idx": 60,
"type": "pro"
},
{
"end_idx": 74,
"entity": "脑电图",
"start_idx": 72,
"type": "pro"
},
{
"end_idx": 76,
"entity": "脑电图异常",
"start_idx": 72,
"type": "sym"
},
{
"end_idx": 82,
"entity": "弥漫性慢活动",
"start_idx": 77,
"type": "sym"
},
{
"end_idx": 86,
"entity": "不对称",
"start_idx": 84,
"type": "sym"
}
] |
可见不对称偶发尖式棘波；重度异常时可见明显不对称，多发尖、棘、尖-慢、棘-慢等病理波。
|
[
{
"end_idx": 10,
"entity": "不对称偶发尖式棘波",
"start_idx": 2,
"type": "sym"
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{
"end_idx": 41,
"entity": "重度异常时可见明显不对称，多发尖、棘、尖-慢、棘-慢等病理波",
"start_idx": 12,
"type": "sym"
}
] |
于合并结核瘤或局部脑梗死时可见占位性或局灶性改变，表现为局部δ波。
|
[
{
"end_idx": 5,
"entity": "结核瘤",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 11,
"entity": "局部脑梗死",
"start_idx": 7,
"type": "dis"
},
{
"end_idx": 23,
"entity": "占位性或局灶性改变",
"start_idx": 15,
"type": "sym"
},
{
"end_idx": 31,
"entity": "局部δ波",
"start_idx": 28,
"type": "sym"
}
] |
但脑电图的改变无特异性，仅可作为临床的辅助诊断，而对病原的鉴别诊断方面意义不大。
|
[
{
"end_idx": 3,
"entity": "脑电图",
"start_idx": 1,
"type": "pro"
}
] |
（四）治疗1.一般治疗严格卧床休息，营养丰富，细心护理，保证入量等。
|
[
{
"end_idx": 16,
"entity": "卧床休息",
"start_idx": 13,
"type": "pro"
},
{
"end_idx": 21,
"entity": "营养丰富",
"start_idx": 18,
"type": "pro"
},
{
"end_idx": 26,
"entity": "细心护理",
"start_idx": 23,
"type": "pro"
},
{
"end_idx": 31,
"entity": "保证入量",
"start_idx": 28,
"type": "pro"
}
] |
目前多采用INH、RFP和PZA联合治疗。
|
[
{
"end_idx": 19,
"entity": "INH、RFP和PZA联合治疗",
"start_idx": 5,
"type": "pro"
}
] |
其中INH为主要的药物，整个疗程自始至终应用。
|
[
{
"end_idx": 4,
"entity": "INH",
"start_idx": 2,
"type": "dru"
}
] |
疗程1～1.5年，或脑脊液正常后不少于半年。
|
[
{
"end_idx": 12,
"entity": "脑脊液",
"start_idx": 10,
"type": "bod"
}
] |
3.激素疗法必须与有效的抗结核药物同时应用，剂量和疗程要适中，在需要应用的病例越早用越好。
|
[
{
"end_idx": 5,
"entity": "激素疗法",
"start_idx": 2,
"type": "pro"
},
{
"end_idx": 16,
"entity": "抗结核药物",
"start_idx": 12,
"type": "dru"
}
] |
激素对脑底脑膜炎型效果最好。
|
[
{
"end_idx": 1,
"entity": "激素",
"start_idx": 0,
"type": "dru"
},
{
"end_idx": 7,
"entity": "脑底脑膜炎",
"start_idx": 3,
"type": "dis"
}
] |
激素的剂量要适中，泼尼松或泼尼松龙1.5～2mg/（kg•d），最大量不超过45mg/d；氢化可的松在急性期可静脉滴注1疗程1～2周，剂量5mg/（kg•d）。
|
[
{
"end_idx": 1,
"entity": "激素",
"start_idx": 0,
"type": "dru"
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{
"end_idx": 11,
"entity": "泼尼松",
"start_idx": 9,
"type": "dru"
},
{
"end_idx": 16,
"entity": "泼尼松龙",
"start_idx": 13,
"type": "dru"
},
{
"end_idx": 49,
"entity": "氢化可的松",
"start_idx": 45,
"type": "dru"
},
{
"end_idx": 58,
"entity": "静脉滴注",
"start_idx": 55,
"type": "pro"
}
] |
对于中晚期结脑患儿用甲基泼尼松龙5mg/（kg•d），静脉滴注3～5天后逐渐减至1～2mg/（kg•d），总疗程1～2周，改为泼尼松口服，可以缩短昏迷时间，提高疗效。
|
[
{
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"entity": "结脑",
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"type": "dis"
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{
"end_idx": 15,
"entity": "甲基泼尼松龙",
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"type": "dru"
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{
"end_idx": 30,
"entity": "静脉滴注",
"start_idx": 27,
"type": "pro"
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{
"end_idx": 65,
"entity": "泼尼松",
"start_idx": 63,
"type": "dru"
},
{
"end_idx": 67,
"entity": "口服",
"start_idx": 66,
"type": "pro"
}
] |
4.脑积水的治疗治疗除常规使用激素外，可采用以下措施：（1）侧脑室穿刺、引流：适用于急性脑积水，用其他降颅压措施无效，或疑有脑疝形成时。
|
[
{
"end_idx": 4,
"entity": "脑积水",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 16,
"entity": "激素",
"start_idx": 15,
"type": "dru"
},
{
"end_idx": 37,
"entity": "侧脑室穿刺、引流",
"start_idx": 30,
"type": "pro"
},
{
"end_idx": 46,
"entity": "急性脑积水",
"start_idx": 42,
"type": "dis"
},
{
"end_idx": 53,
"entity": "降颅压",
"start_idx": 51,
"type": "pro"
},
{
"end_idx": 63,
"entity": "脑疝",
"start_idx": 62,
"type": "dis"
}
] |
引流时应注意固定好侧脑室穿刺针，预防继发感染。
|
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{
"end_idx": 1,
"entity": "引流",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 14,
"entity": "固定好侧脑室穿刺针",
"start_idx": 6,
"type": "pro"
},
{
"end_idx": 21,
"entity": "感染",
"start_idx": 20,
"type": "dis"
}
] |
（2）高渗液的应用：其作用原理为当静脉快速滴入高渗液后，由于血与脑脊液之间渗透压之差而产生降颅压作用。
|
[
{
"end_idx": 5,
"entity": "高渗液",
"start_idx": 3,
"type": "dru"
},
{
"end_idx": 22,
"entity": "静脉快速滴入",
"start_idx": 17,
"type": "pro"
},
{
"end_idx": 25,
"entity": "高渗液",
"start_idx": 23,
"type": "dru"
},
{
"end_idx": 39,
"entity": "血与脑脊液之间渗透压",
"start_idx": 30,
"type": "ite"
},
{
"end_idx": 47,
"entity": "降颅压",
"start_idx": 45,
"type": "pro"
}
] |
常用的高渗液有30%尿素、20%甘露醇、25%山梨醇、50%葡萄糖或尿素和甘露醇混合液。
|
[
{
"end_idx": 5,
"entity": "高渗液",
"start_idx": 3,
"type": "dru"
},
{
"end_idx": 11,
"entity": "尿素",
"start_idx": 10,
"type": "dru"
},
{
"end_idx": 18,
"entity": "甘露醇",
"start_idx": 16,
"type": "dru"
},
{
"end_idx": 25,
"entity": "山梨醇",
"start_idx": 23,
"type": "dru"
},
{
"end_idx": 32,
"entity": "葡萄糖",
"start_idx": 30,
"type": "dru"
},
{
"end_idx": 35,
"entity": "尿素",
"start_idx": 34,
"type": "dru"
},
{
"end_idx": 39,
"entity": "甘露醇",
"start_idx": 37,
"type": "dru"
}
] |
剂量为每次1～1.5g/kg，于30分钟内快速静脉注入，必要时可1天2～3次。
|
[
{
"end_idx": 26,
"entity": "快速静脉注入",
"start_idx": 21,
"type": "pro"
}
] |
此外，亦可应用50%甘油糖浆口服，每次1～1.5/kg，1日可服3～4次，但效果较差。
|
[
{
"end_idx": 13,
"entity": "甘油糖浆",
"start_idx": 10,
"type": "dru"
},
{
"end_idx": 15,
"entity": "口服",
"start_idx": 14,
"type": "pro"
}
] |
（3）分流手术：如果由于脑底脑膜粘连梗阻致发生梗阻性脑积水时，以上疗法均难以奏效时，在炎症基本控制的情况下，可考虑采用脑室腹腔分流术。
|
[
{
"end_idx": 6,
"entity": "分流手术",
"start_idx": 3,
"type": "pro"
},
{
"end_idx": 19,
"entity": "脑底脑膜粘连梗阻",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 13,
"entity": "脑底",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 15,
"entity": "脑膜",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 28,
"entity": "梗阻性脑积水",
"start_idx": 23,
"type": "dis"
},
{
"end_idx": 44,
"entity": "炎症",
"start_idx": 43,
"type": "dis"
},
{
"end_idx": 65,
"entity": "脑室腹腔分流术",
"start_idx": 59,
"type": "pro"
}
] |
5.中医疗法及对症治疗。
|
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{
"end_idx": 5,
"entity": "中医疗法",
"start_idx": 2,
"type": "pro"
},
{
"end_idx": 10,
"entity": "对症治疗",
"start_idx": 7,
"type": "pro"
}
] |
五、新生儿疾病（一）湿肺病变两侧对称。
|
[
{
"end_idx": 11,
"entity": "湿肺",
"start_idx": 10,
"type": "dis"
},
{
"end_idx": 17,
"entity": "病变两侧对称",
"start_idx": 12,
"type": "sym"
}
] |
轻者肺野透亮度降低，肺血管纹理增粗，胸腔少量积液，重者为白肺，但无支气管充气，数小时后就出现透亮度增强的改变，几天内可以完全吸收。
|
[
{
"end_idx": 8,
"entity": "轻者肺野透亮度降低",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 3,
"entity": "肺野",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 12,
"entity": "肺血管",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 16,
"entity": "肺血管纹理增粗",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 19,
"entity": "胸腔",
"start_idx": 18,
"type": "bod"
},
{
"end_idx": 23,
"entity": "胸腔少量积液",
"start_idx": 18,
"type": "sym"
},
{
"end_idx": 29,
"entity": "重者为白肺",
"start_idx": 25,
"type": "sym"
},
{
"end_idx": 29,
"entity": "肺",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 35,
"entity": "支气管",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 37,
"entity": "支气管充气",
"start_idx": 33,
"type": "sym"
},
{
"end_idx": 48,
"entity": "透亮度",
"start_idx": 46,
"type": "ite"
}
] |
（二）新生儿呼吸窘迫综合征两肺体积缩小。
|
[
{
"end_idx": 12,
"entity": "新生儿呼吸窘迫综合征",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 18,
"entity": "两肺体积缩小",
"start_idx": 13,
"type": "sym"
},
{
"end_idx": 16,
"entity": "两肺体积",
"start_idx": 13,
"type": "ite"
}
] |
轻度：两肺透亮度暗淡，有细小颗粒状阴影；中度：两肺野出现毛玻璃状阴影，有支气管充气影。
|
[
{
"end_idx": 18,
"entity": "两肺透亮度暗淡，有细小颗粒状阴影",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 4,
"entity": "两肺",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 41,
"entity": "两肺野出现毛玻璃状阴影，有支气管充气影",
"start_idx": 23,
"type": "sym"
},
{
"end_idx": 25,
"entity": "两肺野",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 38,
"entity": "支气管",
"start_idx": 36,
"type": "bod"
}
] |
重度：两肺显示白肺，心脏边缘消失，支气管充气征明显。
|
[
{
"end_idx": 8,
"entity": "两肺显示白肺",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 4,
"entity": "两肺",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 8,
"entity": "肺",
"start_idx": 8,
"type": "bod"
},
{
"end_idx": 15,
"entity": "心脏边缘消失",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 13,
"entity": "心脏边缘",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 19,
"entity": "支气管",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 24,
"entity": "支气管充气征明显",
"start_idx": 17,
"type": "sym"
}
] |
可出现气胸及支气管肺发育不良。
|
[
{
"end_idx": 4,
"entity": "气胸",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 13,
"entity": "支气管肺发育不良",
"start_idx": 6,
"type": "dis"
}
] |
（三）新生儿吸入综合征胎粪吸入表现为颗粒状阴影，羊水吸入为薄片状阴影，两者兼有则既有颗粒状阴影，又有薄片状阴影。
|
[
{
"end_idx": 10,
"entity": "新生儿吸入综合征",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 14,
"entity": "胎粪吸入",
"start_idx": 11,
"type": "dis"
},
{
"end_idx": 22,
"entity": "颗粒状阴影",
"start_idx": 18,
"type": "sym"
},
{
"end_idx": 27,
"entity": "羊水吸入",
"start_idx": 24,
"type": "dis"
},
{
"end_idx": 33,
"entity": "薄片状阴影",
"start_idx": 29,
"type": "sym"
},
{
"end_idx": 54,
"entity": "既有颗粒状阴影，又有薄片状阴影",
"start_idx": 40,
"type": "sym"
}
] |
可出现气胸。
|
[
{
"end_idx": 4,
"entity": "气胸",
"start_idx": 3,
"type": "dis"
}
] |
（四）新生儿支气管、肺发育不成熟两侧肺纹理增多，两肺野出现网粒状阴影，肺透亮度增高，有的则可出现囊状透亮区，与支气管-肺发育不良相似。
|
[
{
"end_idx": 15,
"entity": "新生儿支气管、肺发育不成熟",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 22,
"entity": "两侧肺纹理增多",
"start_idx": 16,
"type": "sym"
},
{
"end_idx": 20,
"entity": "两侧肺纹理",
"start_idx": 16,
"type": "ite"
},
{
"end_idx": 33,
"entity": "两肺野出现网粒状阴影",
"start_idx": 24,
"type": "sym"
},
{
"end_idx": 26,
"entity": "两肺野",
"start_idx": 24,
"type": "bod"
},
{
"end_idx": 40,
"entity": "肺透亮度增高",
"start_idx": 35,
"type": "sym"
},
{
"end_idx": 38,
"entity": "肺透亮度",
"start_idx": 35,
"type": "ite"
},
{
"end_idx": 52,
"entity": "囊状透亮区",
"start_idx": 48,
"type": "sym"
},
{
"end_idx": 63,
"entity": "支气管-肺发育不良",
"start_idx": 55,
"type": "dis"
}
] |
（五）新生儿气胸继发于某些疾病，如新生儿呼吸窘迫综合征、湿肺、新生儿吸入综合征等。
|
[
{
"end_idx": 7,
"entity": "新生儿气胸",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 26,
"entity": "新生儿呼吸窘迫综合征",
"start_idx": 17,
"type": "dis"
},
{
"end_idx": 29,
"entity": "湿肺",
"start_idx": 28,
"type": "dis"
},
{
"end_idx": 38,
"entity": "新生儿吸入综合征",
"start_idx": 31,
"type": "dis"
}
] |
大量气胸易识别，少量气胸位于纵隔、横膈旁者呈线条状，需引起重视。
|
[
{
"end_idx": 3,
"entity": "大量气胸",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 24,
"entity": "少量气胸位于纵隔、横膈旁者呈线条状",
"start_idx": 8,
"type": "sym"
},
{
"end_idx": 15,
"entity": "纵隔",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 19,
"entity": "横膈旁",
"start_idx": 17,
"type": "bod"
}
] |
三、适应证和禁忌证CPT主要适用于胸腔内中央气道内的分泌物清除，随着气道直径的逐渐缩小，其效应相对降低，因而不适用于肺泡、间质、血管及胸膜的疾病。
|
[
{
"end_idx": 12,
"entity": "CPT",
"start_idx": 10,
"type": "pro"
},
{
"end_idx": 24,
"entity": "胸腔内中央气道",
"start_idx": 18,
"type": "bod"
},
{
"end_idx": 31,
"entity": "分泌物清除",
"start_idx": 27,
"type": "pro"
},
{
"end_idx": 38,
"entity": "气道直径",
"start_idx": 35,
"type": "ite"
},
{
"end_idx": 43,
"entity": "气道直径的逐渐缩小",
"start_idx": 35,
"type": "sym"
},
{
"end_idx": 60,
"entity": "肺泡",
"start_idx": 59,
"type": "bod"
},
{
"end_idx": 63,
"entity": "间质",
"start_idx": 62,
"type": "bod"
},
{
"end_idx": 66,
"entity": "血管",
"start_idx": 65,
"type": "bod"
},
{
"end_idx": 69,
"entity": "胸膜",
"start_idx": 68,
"type": "bod"
}
] |
此外还应注意以下几种情况不应用CPT治疗，以免加重病情：1.患出血性疾病、心血管外科手术后、支气管出血及心律失常的患儿。
|
[
{
"end_idx": 19,
"entity": "CPT治疗",
"start_idx": 15,
"type": "pro"
},
{
"end_idx": 35,
"entity": "出血性疾病",
"start_idx": 31,
"type": "dis"
},
{
"end_idx": 43,
"entity": "心血管外科手术",
"start_idx": 37,
"type": "pro"
},
{
"end_idx": 50,
"entity": "支气管出血",
"start_idx": 46,
"type": "dis"
},
{
"end_idx": 55,
"entity": "心律失常",
"start_idx": 52,
"type": "dis"
}
] |
2.患胸廓疾病，如肿瘤、感染、外伤等容易引起骨折的患儿。
|
[
{
"end_idx": 6,
"entity": "胸廓疾病",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 10,
"entity": "肿瘤",
"start_idx": 9,
"type": "dis"
},
{
"end_idx": 13,
"entity": "感染",
"start_idx": 12,
"type": "dis"
},
{
"end_idx": 16,
"entity": "外伤",
"start_idx": 15,
"type": "dis"
},
{
"end_idx": 23,
"entity": "骨折",
"start_idx": 22,
"type": "dis"
}
] |
3.患有颅内压增高的疾病的患儿，CPT有进一步使颅内压增高的危险。
|
[
{
"end_idx": 8,
"entity": "颅内压增高",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 18,
"entity": "CPT",
"start_idx": 16,
"type": "pro"
},
{
"end_idx": 28,
"entity": "颅内压增高",
"start_idx": 24,
"type": "dis"
}
] |
4.患毛细支气管炎和支气管哮喘等气道反应性增高的患儿，CPT容易引起气道痉挛。
|
[
{
"end_idx": 8,
"entity": "毛细支气管炎",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 14,
"entity": "支气管哮喘",
"start_idx": 10,
"type": "dis"
},
{
"end_idx": 22,
"entity": "气道反应性增高",
"start_idx": 16,
"type": "dis"
},
{
"end_idx": 29,
"entity": "CPT",
"start_idx": 27,
"type": "pro"
},
{
"end_idx": 37,
"entity": "气道痉挛",
"start_idx": 34,
"type": "dis"
}
] |
5.一些疾病，如急性喉炎、急性会厌炎、大叶性或节段性肺实变、异物吸入等疗效不佳。
|
[
{
"end_idx": 11,
"entity": "急性喉炎",
"start_idx": 8,
"type": "dis"
},
{
"end_idx": 17,
"entity": "急性会厌炎",
"start_idx": 13,
"type": "dis"
},
{
"end_idx": 28,
"entity": "大叶性或节段性肺实变",
"start_idx": 19,
"type": "dis"
},
{
"end_idx": 33,
"entity": "异物吸入",
"start_idx": 30,
"type": "dis"
}
] |
图8-14不同部位病变体位引流方法A.上叶尖段：患儿坐在床或引流台上，背靠枕头，后倾30度；B.上叶前段：患儿平卧在床或引流台上，下肢屈曲，膝关节下垫一枕头；C.上叶后段：患儿坐位，前倾30度，扒在枕头上；D.左上叶舌段：床呈15度倾斜，脚高头低，右侧卧位，略向后旋转1/4，膝关节略弯曲，背后可用枕头支撑；E.右中叶内段或外段：床呈15度倾斜，脚高头低，左侧卧位，略向后旋转1/4，膝关节略弯曲，背后可用枕头支撑；F.下叶背段：床平放，患儿俯卧位，并用枕头垫高臀部；G.下叶左或右前基底段：床呈30度倾斜，脚高头低，右肺病变左侧卧位，左肺病变右侧卧位，略向后旋转30度，膝关节下垫一枕头；H.下叶左或右外基底段：床呈30度倾斜，脚高头低，患儿呈俯卧位，向上旋转1/4，使病变部位朝上，上位下肢屈曲在枕头上，以作支撑；I.下叶左或右后基底段：床呈30度倾斜，脚高头低，患儿呈俯卧位图8-15胸部拍击法A.cupped手法；B.three-fingertenting手法
|
[
{
"end_idx": 14,
"entity": "体位引流",
"start_idx": 11,
"type": "pro"
},
{
"end_idx": 22,
"entity": "上叶尖段",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 44,
"entity": "患儿坐在床或引流台上，背靠枕头，后倾30度",
"start_idx": 24,
"type": "pro"
},
{
"end_idx": 51,
"entity": "上叶前段",
"start_idx": 48,
"type": "bod"
},
{
"end_idx": 77,
"entity": "患儿平卧在床或引流台上，下肢屈曲，膝关节下垫一枕头",
"start_idx": 53,
"type": "pro"
},
{
"end_idx": 84,
"entity": "上叶后段",
"start_idx": 81,
"type": "bod"
},
{
"end_idx": 101,
"entity": "患儿坐位，前倾30度，扒在枕头上",
"start_idx": 86,
"type": "pro"
},
{
"end_idx": 109,
"entity": "左上叶舌段",
"start_idx": 105,
"type": "bod"
},
{
"end_idx": 152,
"entity": "床呈15度倾斜，脚高头低，右侧卧位，略向后旋转1/4，膝关节略弯曲，背后可用枕头支撑",
"start_idx": 111,
"type": "pro"
},
{
"end_idx": 163,
"entity": "右中叶内段或外段",
"start_idx": 156,
"type": "bod"
},
{
"end_idx": 206,
"entity": "床呈15度倾斜，脚高头低，左侧卧位，略向后旋转1/4，膝关节略弯曲，背后可用枕头支撑",
"start_idx": 165,
"type": "pro"
},
{
"end_idx": 213,
"entity": "下叶背段",
"start_idx": 210,
"type": "bod"
},
{
"end_idx": 232,
"entity": "床平放，患儿俯卧位，并用枕头垫高臀部",
"start_idx": 215,
"type": "pro"
},
{
"end_idx": 244,
"entity": "下叶左或右前基底段",
"start_idx": 236,
"type": "bod"
},
{
"end_idx": 293,
"entity": "床呈30度倾斜，脚高头低，右肺病变左侧卧位，左肺病变右侧卧位，略向后旋转30度，膝关节下垫一枕头",
"start_idx": 246,
"type": "pro"
},
{
"end_idx": 305,
"entity": "下叶左或右外基底段",
"start_idx": 297,
"type": "bod"
},
{
"end_idx": 357,
"entity": "床呈30度倾斜，脚高头低，患儿呈俯卧位，向上旋转1/4，使病变部位朝上，上位下肢屈曲在枕头上，以作支撑",
"start_idx": 307,
"type": "pro"
},
{
"end_idx": 369,
"entity": "下叶左或右后基底段",
"start_idx": 361,
"type": "bod"
},
{
"end_idx": 389,
"entity": "床呈30度倾斜，脚高头低，患儿呈俯卧位",
"start_idx": 371,
"type": "pro"
},
{
"end_idx": 399,
"entity": "胸部拍击法",
"start_idx": 395,
"type": "pro"
},
{
"end_idx": 409,
"entity": "cupped手法",
"start_idx": 402,
"type": "pro"
},
{
"end_idx": 433,
"entity": "three-fingertenting手法",
"start_idx": 413,
"type": "pro"
}
] |
附：外部性脑积水外部性脑积水（externalhydrocephalus，EH）是发生在婴儿期的一种良性、自愈性疾病。
|
[
{
"end_idx": 7,
"entity": "外部性脑积水",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 13,
"entity": "外部性脑积水",
"start_idx": 8,
"type": "dis"
},
{
"end_idx": 35,
"entity": "externalhydrocephalus",
"start_idx": 15,
"type": "dis"
},
{
"end_idx": 38,
"entity": "EH",
"start_idx": 37,
"type": "dis"
}
] |
随着神经影像学的发展，临床发现有些头颅较大的婴儿，行头颅CT和MRI检查显示双侧额部或额顶部有蛛网膜下腔增宽，没有或仅有轻度脑室扩大，在2～3岁以后扩大的蛛网膜下腔又慢慢自行消失，这种现象被称为EH，由Dandy于1917年首先提出。
|
[
{
"end_idx": 3,
"entity": "神经",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 18,
"entity": "头颅",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 29,
"entity": "头颅CT",
"start_idx": 26,
"type": "pro"
},
{
"end_idx": 53,
"entity": "头颅CT和MRI检查显示双侧额部或额顶部有蛛网膜下腔增宽",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 35,
"entity": "MRI检查",
"start_idx": 31,
"type": "pro"
},
{
"end_idx": 41,
"entity": "双侧额部",
"start_idx": 38,
"type": "bod"
},
{
"end_idx": 45,
"entity": "额顶部",
"start_idx": 43,
"type": "bod"
},
{
"end_idx": 51,
"entity": "蛛网膜下腔",
"start_idx": 47,
"type": "bod"
},
{
"end_idx": 65,
"entity": "没有或仅有轻度脑室扩大",
"start_idx": 55,
"type": "sym"
},
{
"end_idx": 63,
"entity": "脑室",
"start_idx": 62,
"type": "bod"
},
{
"end_idx": 88,
"entity": "在2～3岁以后扩大的蛛网膜下腔又慢慢自行消失",
"start_idx": 67,
"type": "sym"
},
{
"end_idx": 81,
"entity": "蛛网膜下腔",
"start_idx": 77,
"type": "bod"
},
{
"end_idx": 98,
"entity": "EH",
"start_idx": 97,
"type": "dis"
}
] |
又称为良性蛛网膜下腔扩大、婴儿良性硬脑膜下积液脑室外梗阻性脑积水脑外积水等，属于假性脑积水。
|
[
{
"end_idx": 11,
"entity": "良性蛛网膜下腔扩大",
"start_idx": 3,
"type": "dis"
},
{
"end_idx": 22,
"entity": "婴儿良性硬脑膜下积液",
"start_idx": 13,
"type": "dis"
},
{
"end_idx": 35,
"entity": "脑室外梗阻性脑积水脑外积水",
"start_idx": 23,
"type": "dis"
},
{
"end_idx": 44,
"entity": "脑积水",
"start_idx": 42,
"type": "dis"
}
] |
原发性EH系指找不出明确原因的EH。
|
[
{
"end_idx": 4,
"entity": "原发性EH",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 16,
"entity": "EH",
"start_idx": 15,
"type": "dis"
}
] |
EH的发病机制尚不清楚，多数学者认为与颅外静脉阻塞引起颅内静脉压力增高上矢状窦压力升高蛛网膜颗粒水平的脑脊液吸收障碍有关。
|
[
{
"end_idx": 1,
"entity": "EH",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 24,
"entity": "颅外静脉阻塞",
"start_idx": 19,
"type": "sym"
},
{
"end_idx": 22,
"entity": "颅外静脉",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 34,
"entity": "颅内静脉压力增高",
"start_idx": 27,
"type": "sym"
},
{
"end_idx": 32,
"entity": "颅内静脉压力",
"start_idx": 27,
"type": "ite"
},
{
"end_idx": 42,
"entity": "上矢状窦压力升高",
"start_idx": 35,
"type": "sym"
},
{
"end_idx": 40,
"entity": "上矢状窦压力",
"start_idx": 35,
"type": "ite"
},
{
"end_idx": 47,
"entity": "蛛网膜颗粒",
"start_idx": 43,
"type": "ite"
},
{
"end_idx": 57,
"entity": "蛛网膜颗粒水平的脑脊液吸收障碍",
"start_idx": 43,
"type": "sym"
},
{
"end_idx": 53,
"entity": "脑脊液",
"start_idx": 51,
"type": "bod"
},
{
"end_idx": 57,
"entity": "吸收障碍",
"start_idx": 54,
"type": "dis"
}
] |
新近有研究认为EH可能是源于蛛网膜功能发育延迟EH可能为脑与颅骨发育不均衡原发性EH的头颅CT或MRI表现可能就是部分正常婴儿的发育现象，无特殊病理意义。
|
[
{
"end_idx": 8,
"entity": "EH",
"start_idx": 7,
"type": "dis"
},
{
"end_idx": 18,
"entity": "蛛网膜功能",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 22,
"entity": "蛛网膜功能发育延迟",
"start_idx": 14,
"type": "sym"
},
{
"end_idx": 24,
"entity": "EH",
"start_idx": 23,
"type": "dis"
},
{
"end_idx": 28,
"entity": "脑",
"start_idx": 28,
"type": "bod"
},
{
"end_idx": 36,
"entity": "脑与颅骨发育不均衡",
"start_idx": 28,
"type": "sym"
},
{
"end_idx": 31,
"entity": "颅骨",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 41,
"entity": "原发性EH",
"start_idx": 37,
"type": "dis"
},
{
"end_idx": 46,
"entity": "头颅CT",
"start_idx": 43,
"type": "pro"
},
{
"end_idx": 50,
"entity": "MRI",
"start_idx": 48,
"type": "pro"
}
] |
【临床表现】本病发病年龄在1～1.5岁前囟未闭合之前，多发生于6个月左右婴儿。
|
[
{
"end_idx": 20,
"entity": "前囟",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 23,
"entity": "前囟未闭合",
"start_idx": 19,
"type": "sym"
}
] |
头颅CT或MRI扫描的表现为对称性的，显示：①额和额顶区蛛网膜下腔增宽＞5mm（正常＜2.3mm），其他区域蛛网膜下腔不增宽或稍宽脑前部纵裂池及侧裂池增宽基底池主要是鞍上池扩大额顶区脑沟加深加宽脑室不大或轻度扩大EH主要依据短期内头围增大及特有的头颅CT或MRI表现而予以诊断。
|
[
{
"end_idx": 3,
"entity": "头颅CT",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 7,
"entity": "MRI",
"start_idx": 5,
"type": "pro"
},
{
"end_idx": 32,
"entity": "额和额顶区蛛网膜下腔",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 64,
"entity": "额和额顶区蛛网膜下腔增宽＞5mm（正常＜2.3mm），其他区域蛛网膜下腔不增宽或稍宽",
"start_idx": 23,
"type": "sym"
},
{
"end_idx": 58,
"entity": "蛛网膜下腔",
"start_idx": 54,
"type": "bod"
},
{
"end_idx": 70,
"entity": "脑前部纵裂池",
"start_idx": 65,
"type": "bod"
},
{
"end_idx": 76,
"entity": "脑前部纵裂池及侧裂池增宽",
"start_idx": 65,
"type": "sym"
},
{
"end_idx": 74,
"entity": "侧裂池",
"start_idx": 72,
"type": "bod"
},
{
"end_idx": 79,
"entity": "基底池",
"start_idx": 77,
"type": "bod"
},
{
"end_idx": 87,
"entity": "基底池主要是鞍上池扩大",
"start_idx": 77,
"type": "sym"
},
{
"end_idx": 85,
"entity": "鞍上池",
"start_idx": 83,
"type": "bod"
},
{
"end_idx": 92,
"entity": "额顶区脑沟",
"start_idx": 88,
"type": "bod"
},
{
"end_idx": 96,
"entity": "额顶区脑沟加深加宽",
"start_idx": 88,
"type": "sym"
},
{
"end_idx": 105,
"entity": "脑室不大或轻度扩大",
"start_idx": 97,
"type": "sym"
},
{
"end_idx": 98,
"entity": "脑室",
"start_idx": 97,
"type": "bod"
},
{
"end_idx": 107,
"entity": "EH",
"start_idx": 106,
"type": "dis"
},
{
"end_idx": 118,
"entity": "短期内头围增大",
"start_idx": 112,
"type": "sym"
},
{
"end_idx": 115,
"entity": "头",
"start_idx": 115,
"type": "bod"
},
{
"end_idx": 126,
"entity": "头颅CT",
"start_idx": 123,
"type": "pro"
},
{
"end_idx": 130,
"entity": "MRI",
"start_idx": 128,
"type": "pro"
}
] |
参考标准为：①患儿在短期内（1～3个月）头围异常增大，部分出现抽搐发作或前囟隆起发育及智力正常；③头颅CT或MRI扫描显示双侧额和额顶区蛛网膜下腔对称性局限性增宽，伴或不伴脑室轻度扩大；④随访观察扩大的蛛网膜下腔可自行慢慢恢复正常。
|
[
{
"end_idx": 25,
"entity": "短期内（1～3个月）头围异常增大",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 20,
"entity": "头",
"start_idx": 20,
"type": "bod"
},
{
"end_idx": 34,
"entity": "抽搐发作",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 37,
"entity": "前囟",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 39,
"entity": "前囟隆起",
"start_idx": 36,
"type": "sym"
},
{
"end_idx": 46,
"entity": "发育及智力正常",
"start_idx": 40,
"type": "sym"
},
{
"end_idx": 52,
"entity": "头颅CT",
"start_idx": 49,
"type": "pro"
},
{
"end_idx": 91,
"entity": "头颅CT或MRI扫描显示双侧额和额顶区蛛网膜下腔对称性局限性增宽，伴或不伴脑室轻度扩大",
"start_idx": 49,
"type": "sym"
},
{
"end_idx": 58,
"entity": "MRI扫描",
"start_idx": 54,
"type": "pro"
},
{
"end_idx": 63,
"entity": "双侧额",
"start_idx": 61,
"type": "bod"
},
{
"end_idx": 72,
"entity": "额顶区蛛网膜下腔",
"start_idx": 65,
"type": "bod"
},
{
"end_idx": 87,
"entity": "脑室",
"start_idx": 86,
"type": "bod"
},
{
"end_idx": 114,
"entity": "扩大的蛛网膜下腔可自行慢慢恢复正常",
"start_idx": 98,
"type": "sym"
},
{
"end_idx": 105,
"entity": "蛛网膜下腔",
"start_idx": 101,
"type": "bod"
}
] |
需与脑萎缩及硬脑膜下积液脑萎缩患儿头围不大或更小些，在头颅CT或MRI上，呈现整个大脑脑沟普遍加深变宽，有时小脑沟也加深，脑室扩大，大部分病例无脑前部纵裂池增宽脑纵裂池增宽时，整个纵裂池均宽而不局限于前部硬脑膜下积液多由于脑膜炎和外伤引起，头颅CT或MRI扫描显示硬脑膜下积液不伴有基底池扩大及前纵裂增宽，多伴有脑室受压，其扩大腔内侧缘较平滑及左右两侧多不对称EH为良性自限性疾病，绝大多数患儿不需任何内外科治疗，可待其自行消失。
|
[
{
"end_idx": 4,
"entity": "脑萎缩",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 11,
"entity": "硬脑膜下积液",
"start_idx": 6,
"type": "dis"
},
{
"end_idx": 24,
"entity": "脑萎缩患儿头围不大或更小些",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 14,
"entity": "脑萎缩",
"start_idx": 12,
"type": "dis"
},
{
"end_idx": 17,
"entity": "头",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 50,
"entity": "在头颅CT或MRI上，呈现整个大脑脑沟普遍加深变宽",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 30,
"entity": "头颅CT",
"start_idx": 27,
"type": "pro"
},
{
"end_idx": 34,
"entity": "MRI",
"start_idx": 32,
"type": "pro"
},
{
"end_idx": 44,
"entity": "大脑脑沟",
"start_idx": 41,
"type": "bod"
},
{
"end_idx": 59,
"entity": "有时小脑沟也加深",
"start_idx": 52,
"type": "sym"
},
{
"end_idx": 56,
"entity": "小脑沟",
"start_idx": 54,
"type": "bod"
},
{
"end_idx": 62,
"entity": "脑室",
"start_idx": 61,
"type": "bod"
},
{
"end_idx": 64,
"entity": "脑室扩大",
"start_idx": 61,
"type": "sym"
},
{
"end_idx": 79,
"entity": "大部分病例无脑前部纵裂池增宽",
"start_idx": 66,
"type": "sym"
},
{
"end_idx": 77,
"entity": "脑前部纵裂池",
"start_idx": 72,
"type": "bod"
},
{
"end_idx": 83,
"entity": "脑纵裂池",
"start_idx": 80,
"type": "bod"
},
{
"end_idx": 85,
"entity": "脑纵裂池增宽",
"start_idx": 80,
"type": "sym"
},
{
"end_idx": 92,
"entity": "纵裂池",
"start_idx": 90,
"type": "bod"
},
{
"end_idx": 105,
"entity": "纵裂池均宽而不局限于前部硬脑膜下",
"start_idx": 90,
"type": "sym"
},
{
"end_idx": 104,
"entity": "前部硬脑膜",
"start_idx": 100,
"type": "bod"
},
{
"end_idx": 107,
"entity": "积液",
"start_idx": 106,
"type": "sym"
},
{
"end_idx": 113,
"entity": "脑膜炎",
"start_idx": 111,
"type": "dis"
},
{
"end_idx": 116,
"entity": "外伤",
"start_idx": 115,
"type": "dis"
},
{
"end_idx": 123,
"entity": "头颅CT",
"start_idx": 120,
"type": "pro"
},
{
"end_idx": 151,
"entity": "头颅CT或MRI扫描显示硬脑膜下积液不伴有基底池扩大及前纵裂增宽",
"start_idx": 120,
"type": "sym"
},
{
"end_idx": 129,
"entity": "MRI扫描",
"start_idx": 125,
"type": "pro"
},
{
"end_idx": 134,
"entity": "硬脑膜",
"start_idx": 132,
"type": "bod"
},
{
"end_idx": 143,
"entity": "基底池",
"start_idx": 141,
"type": "bod"
},
{
"end_idx": 149,
"entity": "前纵裂",
"start_idx": 147,
"type": "bod"
},
{
"end_idx": 157,
"entity": "脑室",
"start_idx": 156,
"type": "bod"
},
{
"end_idx": 159,
"entity": "脑室受压",
"start_idx": 156,
"type": "sym"
},
{
"end_idx": 179,
"entity": "扩大腔内侧缘较平滑及左右两侧多不对称",
"start_idx": 162,
"type": "sym"
},
{
"end_idx": 181,
"entity": "EH",
"start_idx": 180,
"type": "dis"
},
{
"end_idx": 189,
"entity": "良性自限性疾病",
"start_idx": 183,
"type": "dis"
},
{
"end_idx": 203,
"entity": "内外科",
"start_idx": 201,
"type": "dep"
}
] |
继发性EH的轻症病例亦可自愈，有原发病者要积极治疗原发病。
|
[
{
"end_idx": 4,
"entity": "继发性EH",
"start_idx": 0,
"type": "dis"
}
] |
六、造血干细胞移植的预处理接受异体或自体干细胞移植之前，受体需接受移植前治疗，称为预处理，预处理治疗主要达到两个目的：摧毁受体的免疫系统，以保证移植物植入，抑制移植物的免疫功能，控制移植后GVHD；清除受体内残留肿瘤细胞或带有疾病基因的骨髓细胞。
|
[
{
"end_idx": 8,
"entity": "造血干细胞移植",
"start_idx": 2,
"type": "pro"
},
{
"end_idx": 24,
"entity": "异体或自体干细胞移植",
"start_idx": 15,
"type": "pro"
},
{
"end_idx": 37,
"entity": "受体需接受移植前治疗",
"start_idx": 28,
"type": "pro"
},
{
"end_idx": 49,
"entity": "预处理治疗",
"start_idx": 45,
"type": "pro"
},
{
"end_idx": 67,
"entity": "受体的免疫系统",
"start_idx": 61,
"type": "bod"
},
{
"end_idx": 76,
"entity": "移植物植入",
"start_idx": 72,
"type": "pro"
},
{
"end_idx": 82,
"entity": "移植物",
"start_idx": 80,
"type": "dru"
},
{
"end_idx": 97,
"entity": "移植后GVHD",
"start_idx": 91,
"type": "dis"
},
{
"end_idx": 109,
"entity": "受体内残留肿瘤细胞",
"start_idx": 101,
"type": "bod"
},
{
"end_idx": 116,
"entity": "疾病基因",
"start_idx": 113,
"type": "bod"
},
{
"end_idx": 121,
"entity": "骨髓细胞",
"start_idx": 118,
"type": "bod"
}
] |
自体移植时预处理的目的主要是清除受体内残留肿瘤细胞。
|
[
{
"end_idx": 3,
"entity": "自体移植",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 24,
"entity": "受体内残留肿瘤细胞",
"start_idx": 16,
"type": "bod"
}
] |
预处理的手段包括超剂量化疗、全身放疗和免疫抑制药物应用。
|
[
{
"end_idx": 12,
"entity": "超剂量化疗",
"start_idx": 8,
"type": "pro"
},
{
"end_idx": 17,
"entity": "全身放疗",
"start_idx": 14,
"type": "pro"
},
{
"end_idx": 26,
"entity": "免疫抑制药物应用",
"start_idx": 19,
"type": "pro"
}
] |
各单位、各种疾病预处理方案不完全相同，因为全身放疗的远期毒副反应，人们尽可能避免这种预处理，但其在ALL中仍然显示能明显提高疗效，所以仍广泛应用于ALL中，除此之外清髓性预处理基本被白消安所替代。
|
[
{
"end_idx": 24,
"entity": "全身放疗",
"start_idx": 21,
"type": "pro"
},
{
"end_idx": 51,
"entity": "ALL",
"start_idx": 49,
"type": "dis"
},
{
"end_idx": 75,
"entity": "ALL",
"start_idx": 73,
"type": "dis"
},
{
"end_idx": 87,
"entity": "清髓性预处理",
"start_idx": 82,
"type": "pro"
},
{
"end_idx": 93,
"entity": "白消安",
"start_idx": 91,
"type": "dru"
}
] |
第二节基因诊断遗传性疾病是由于患者基因的缺陷或者变异，造成体内相应蛋白质合成的数量或者质量的异常，以致不能执行正常的生理功能而出现的疾病。
|
[
{
"end_idx": 6,
"entity": "基因诊断",
"start_idx": 3,
"type": "pro"
},
{
"end_idx": 11,
"entity": "遗传性疾病",
"start_idx": 7,
"type": "dis"
},
{
"end_idx": 18,
"entity": "基因",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 25,
"entity": "基因的缺陷或者变异",
"start_idx": 17,
"type": "sym"
},
{
"end_idx": 47,
"entity": "体内相应蛋白质合成的数量或者质量的异常",
"start_idx": 29,
"type": "sym"
},
{
"end_idx": 30,
"entity": "体内",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 35,
"entity": "蛋白质",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 61,
"entity": "不能执行正常的生理功能",
"start_idx": 51,
"type": "sym"
}
] |
基因诊断是在基因水平对疾病作出病因诊断。
|
[
{
"end_idx": 3,
"entity": "基因诊断",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 7,
"entity": "基因",
"start_idx": 6,
"type": "bod"
},
{
"end_idx": 18,
"entity": "病因诊断",
"start_idx": 15,
"type": "pro"
}
] |
通过DNA或者RNA抽提、基因体外扩增（PCR）、分子杂交以及DNA测序等技术，检测特定基因是否有改变，从基因水平阐明病因，从而诊断患者是否有某种遗传病。
|
[
{
"end_idx": 11,
"entity": "DNA或者RNA抽提",
"start_idx": 2,
"type": "pro"
},
{
"end_idx": 18,
"entity": "基因体外扩增",
"start_idx": 13,
"type": "pro"
},
{
"end_idx": 22,
"entity": "PCR",
"start_idx": 20,
"type": "pro"
},
{
"end_idx": 28,
"entity": "分子杂交",
"start_idx": 25,
"type": "pro"
},
{
"end_idx": 35,
"entity": "DNA测序",
"start_idx": 31,
"type": "pro"
},
{
"end_idx": 50,
"entity": "检测特定基因是否有改变",
"start_idx": 40,
"type": "pro"
},
{
"end_idx": 54,
"entity": "基因",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 75,
"entity": "遗传病",
"start_idx": 73,
"type": "dis"
}
] |
对胎儿进行DNA检测，明确是否患有遗传病，从而指导孕妇作出是否继续妊娠的选择。
|
[
{
"end_idx": 9,
"entity": "对胎儿进行DNA检测",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 19,
"entity": "遗传病",
"start_idx": 17,
"type": "dis"
}
] |
一、基因突变基因突变是指由于基因序列上DNA碱基对的置换、插入、缺失及重复等引起的基因结构的变化。
|
[
{
"end_idx": 3,
"entity": "基因",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 5,
"entity": "基因突变",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 7,
"entity": "基因",
"start_idx": 6,
"type": "bod"
},
{
"end_idx": 9,
"entity": "基因突变",
"start_idx": 6,
"type": "sym"
},
{
"end_idx": 24,
"entity": "基因序列上DNA碱基对",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 36,
"entity": "基因序列上DNA碱基对的置换、插入、缺失及重复",
"start_idx": 14,
"type": "sym"
},
{
"end_idx": 42,
"entity": "基因",
"start_idx": 41,
"type": "bod"
},
{
"end_idx": 47,
"entity": "基因结构的变化",
"start_idx": 41,
"type": "sym"
}
] |
基因突变可发生在生殖细胞，也可发生在体细胞。
|
[
{
"end_idx": 1,
"entity": "基因",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 3,
"entity": "基因突变",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 11,
"entity": "生殖细胞",
"start_idx": 8,
"type": "bod"
},
{
"end_idx": 20,
"entity": "体细胞",
"start_idx": 18,
"type": "bod"
}
] |
基因突变在生物界中是普遍存在的，它是生物变异的主要原因，是生物进化的主要因素。
|
[
{
"end_idx": 1,
"entity": "基因",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 3,
"entity": "基因突变",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 21,
"entity": "生物变异",
"start_idx": 18,
"type": "sym"
}
] |
但多数突变对生物体是有害的，影响氨基酸的组成，影响蛋白质功能，从而导致疾病，严重者影响胚胎发育而发生早期流产。
|
[
{
"end_idx": 4,
"entity": "突变",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 18,
"entity": "氨基酸",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 27,
"entity": "蛋白质",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 44,
"entity": "胚胎",
"start_idx": 43,
"type": "bod"
},
{
"end_idx": 53,
"entity": "早期流产",
"start_idx": 50,
"type": "sym"
}
] |
绝大多数的人类遗传病，例如人的苯丙酮尿症、白化病及地中海贫血等遗传病，都是突变性状，是由基因突变造成的，这些病对人类健康构成了严重威胁。
|
[
{
"end_idx": 9,
"entity": "人类遗传病",
"start_idx": 5,
"type": "dis"
},
{
"end_idx": 19,
"entity": "苯丙酮尿症",
"start_idx": 15,
"type": "dis"
},
{
"end_idx": 23,
"entity": "白化病",
"start_idx": 21,
"type": "dis"
},
{
"end_idx": 29,
"entity": "地中海贫血",
"start_idx": 25,
"type": "dis"
},
{
"end_idx": 33,
"entity": "遗传病",
"start_idx": 31,
"type": "dis"
},
{
"end_idx": 40,
"entity": "突变性状",
"start_idx": 37,
"type": "sym"
},
{
"end_idx": 45,
"entity": "基因",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 47,
"entity": "基因突变",
"start_idx": 44,
"type": "sym"
}
] |
突变是生物变异与进化的源泉，它也能为生物体提供新的基因。
|
[
{
"end_idx": 1,
"entity": "突变",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 6,
"entity": "生物变异",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 26,
"entity": "基因",
"start_idx": 25,
"type": "bod"
}
] |
通常将基因序列上单个碱基或少数碱基改变称为点突变。
|
[
{
"end_idx": 4,
"entity": "基因",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 11,
"entity": "碱基",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 16,
"entity": "碱基",
"start_idx": 15,
"type": "bod"
},
{
"end_idx": 18,
"entity": "碱基改变",
"start_idx": 15,
"type": "sym"
},
{
"end_idx": 23,
"entity": "点突变",
"start_idx": 21,
"type": "sym"
}
] |
突变有以下几种类型：1.碱基置换（basesubstitution）突变由一个错误的碱基对替代一个正确的碱基对的突变称为碱基置换突变。
|
[
{
"end_idx": 1,
"entity": "突变",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 13,
"entity": "碱基",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 35,
"entity": "碱基置换（basesubstitution）突变",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 44,
"entity": "错误的碱基对",
"start_idx": 39,
"type": "sym"
},
{
"end_idx": 44,
"entity": "碱基对",
"start_idx": 42,
"type": "bod"
},
{
"end_idx": 54,
"entity": "碱基对",
"start_idx": 52,
"type": "bod"
},
{
"end_idx": 57,
"entity": "碱基对的突变",
"start_idx": 52,
"type": "sym"
},
{
"end_idx": 61,
"entity": "碱基",
"start_idx": 60,
"type": "bod"
},
{
"end_idx": 65,
"entity": "碱基置换突变",
"start_idx": 60,
"type": "sym"
}
] |
例如在DNA分子中的GC碱基对由CG或AT或TA所代替，AT碱基对由TA或GC或CG所代替。
|
[
{
"end_idx": 13,
"entity": "DNA分子中的GC碱基",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 26,
"entity": "DNA分子中的GC碱基对由CG或AT或TA所代替",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 17,
"entity": "CG",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 20,
"entity": "AT",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 23,
"entity": "TA",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 32,
"entity": "AT碱基对",
"start_idx": 28,
"type": "bod"
},
{
"end_idx": 44,
"entity": "AT碱基对由TA或GC或CG所代替",
"start_idx": 28,
"type": "sym"
},
{
"end_idx": 35,
"entity": "TA",
"start_idx": 34,
"type": "bod"
},
{
"end_idx": 38,
"entity": "GC",
"start_idx": 37,
"type": "bod"
},
{
"end_idx": 41,
"entity": "CG",
"start_idx": 40,
"type": "bod"
}
] |
碱基替换过程只改变被替换碱基的那个密码子，也就是说每一次碱基替换只改变一个密码子，不会涉及其他的密码子。
|
[
{
"end_idx": 1,
"entity": "碱基",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 3,
"entity": "碱基替换",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 13,
"entity": "被替换碱基",
"start_idx": 9,
"type": "bod"
},
{
"end_idx": 19,
"entity": "密码子",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 29,
"entity": "碱基",
"start_idx": 28,
"type": "bod"
},
{
"end_idx": 31,
"entity": "碱基替换",
"start_idx": 28,
"type": "sym"
},
{
"end_idx": 39,
"entity": "密码子",
"start_idx": 37,
"type": "bod"
},
{
"end_idx": 50,
"entity": "密码子",
"start_idx": 48,
"type": "bod"
}
] |
碱基置换所致的基因突变既可发生在基因编码区，又可见于基因调控区，是最常见的基因点突变。
|
[
{
"end_idx": 1,
"entity": "碱基",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 3,
"entity": "碱基置换",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 8,
"entity": "基因",
"start_idx": 7,
"type": "bod"
},
{
"end_idx": 10,
"entity": "基因突变",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 20,
"entity": "基因编码区",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 30,
"entity": "基因调控区",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 38,
"entity": "基因",
"start_idx": 37,
"type": "bod"
},
{
"end_idx": 41,
"entity": "基因点突变",
"start_idx": 37,
"type": "sym"
}
] |
2.基因丢失（deletion）指基因核苷酸序列中核苷酸的丢失，这种丢失少则一个碱基，多至全基因或至几十个kb片段大小。
|
[
{
"end_idx": 3,
"entity": "基因",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 5,
"entity": "基因丢失",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 14,
"entity": "deletion",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 27,
"entity": "基因核苷酸序列中核苷酸",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 30,
"entity": "基因核苷酸序列中核苷酸的丢失",
"start_idx": 17,
"type": "sym"
},
{
"end_idx": 41,
"entity": "碱基",
"start_idx": 40,
"type": "bod"
},
{
"end_idx": 47,
"entity": "基因",
"start_idx": 46,
"type": "bod"
},
{
"end_idx": 56,
"entity": "kb片段",
"start_idx": 53,
"type": "bod"
}
] |
大片段DNA丢失可造成基因编码产物合成障碍，导致蛋白质完全或部分缺失，严重影响其功能。
|
[
{
"end_idx": 7,
"entity": "大片段DNA丢失",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 5,
"entity": "DNA",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 16,
"entity": "基因编码产物",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 20,
"entity": "基因编码产物合成障碍",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 26,
"entity": "蛋白质",
"start_idx": 24,
"type": "bod"
},
{
"end_idx": 33,
"entity": "蛋白质完全或部分缺失",
"start_idx": 24,
"type": "sym"
}
] |
3.基因插入（insertion）与缺失相反，为插入一段顺序，可插入一个碱基，甚至好几百个或者更多碱基对插入。
|
[
{
"end_idx": 3,
"entity": "基因",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 5,
"entity": "基因插入",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 15,
"entity": "insertion",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 29,
"entity": "插入一段顺序",
"start_idx": 24,
"type": "sym"
},
{
"end_idx": 37,
"entity": "插入一个碱基",
"start_idx": 32,
"type": "sym"
},
{
"end_idx": 37,
"entity": "碱基",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 53,
"entity": "好几百个或者更多碱基对插入",
"start_idx": 41,
"type": "sym"
},
{
"end_idx": 51,
"entity": "碱基对",
"start_idx": 49,
"type": "bod"
}
] |
4.基因融合指两个不同的核苷酸序列相接，形成一个新的基因。
|
[
{
"end_idx": 3,
"entity": "基因",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 5,
"entity": "基因融合",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 18,
"entity": "两个不同的核苷酸序列相接",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 16,
"entity": "核苷酸序列",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 27,
"entity": "形成一个新的基因",
"start_idx": 20,
"type": "sym"
},
{
"end_idx": 27,
"entity": "基因",
"start_idx": 26,
"type": "bod"
}
] |
如同源染色体之间的不等交换，或者染色体异位，例如染色体9q上癌基因ABL异位到22qBCR，形成BCRABL融合蛋白，导致慢性粒细胞性白血病。
|
[
{
"end_idx": 5,
"entity": "同源染色体",
"start_idx": 1,
"type": "bod"
},
{
"end_idx": 12,
"entity": "同源染色体之间的不等交换",
"start_idx": 1,
"type": "sym"
},
{
"end_idx": 18,
"entity": "染色体",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 20,
"entity": "染色体异位",
"start_idx": 16,
"type": "sym"
},
{
"end_idx": 35,
"entity": "染色体9q上癌基因ABL",
"start_idx": 24,
"type": "bod"
},
{
"end_idx": 44,
"entity": "染色体9q上癌基因ABL异位到22qBCR",
"start_idx": 24,
"type": "sym"
},
{
"end_idx": 44,
"entity": "22qBCR",
"start_idx": 39,
"type": "bod"
},
{
"end_idx": 57,
"entity": "形成BCRABL融合蛋白",
"start_idx": 46,
"type": "sym"
},
{
"end_idx": 57,
"entity": "BCRABL融合蛋白",
"start_idx": 48,
"type": "bod"
},
{
"end_idx": 69,
"entity": "慢性粒细胞性白血病",
"start_idx": 61,
"type": "dis"
}
] |
5.动态突变（dynamicmutation）是指DNA中的碱基重复序列拷贝数发生扩增而导致的突变。
|
[
{
"end_idx": 5,
"entity": "动态突变",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 21,
"entity": "dynamicmutation",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 35,
"entity": "DNA中的碱基重复序列",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 42,
"entity": "DNA中的碱基重复序列拷贝数发生扩增",
"start_idx": 25,
"type": "sym"
},
{
"end_idx": 48,
"entity": "突变",
"start_idx": 47,
"type": "sym"
}
] |
在人类基因中，当动态突变发生在转录序列内或附近时，就有可能对基因转录或其表达产物产生影响。
|
[
{
"end_idx": 4,
"entity": "人类基因",
"start_idx": 1,
"type": "bod"
},
{
"end_idx": 22,
"entity": "动态突变发生在转录序列内或附近",
"start_idx": 8,
"type": "sym"
},
{
"end_idx": 19,
"entity": "转录序列内",
"start_idx": 15,
"type": "bod"
},
{
"end_idx": 31,
"entity": "基因",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 39,
"entity": "表达产物",
"start_idx": 36,
"type": "bod"
}
] |
通常重复序列的拷贝数有一个范围，超过这个范围，重复序列将变得不稳定，从而表现出疾病症状或在染色体上表现出脆性位点。
|
[
{
"end_idx": 5,
"entity": "重复序列",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 26,
"entity": "重复序列",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 55,
"entity": "在染色体上表现出脆性位点",
"start_idx": 44,
"type": "sym"
},
{
"end_idx": 48,
"entity": "染色体上",
"start_idx": 45,
"type": "bod"
}
] |
至今已发现10余种遗传性疾病与动态突变有关，其中属于CGG/CCG重复的有脆性X综合征，以及Fraxe综合征；属于CAG/CTG重复的有重症肌无力（DM）、X连锁的脊柱和延髓肌萎缩、脊髓与小脑运动失调-1型（SCA1）、舞蹈症、亨廷顿病、齿状核与苍白球萎缩症，以苍白球萎缩症do-Josephdisease（MJD）等。
|
[
{
"end_idx": 13,
"entity": "遗传性疾病",
"start_idx": 9,
"type": "dis"
},
{
"end_idx": 18,
"entity": "动态突变",
"start_idx": 15,
"type": "sym"
},
{
"end_idx": 32,
"entity": "CGG/CCG",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 34,
"entity": "CGG/CCG重复",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 42,
"entity": "脆性X综合征",
"start_idx": 37,
"type": "dis"
},
{
"end_idx": 53,
"entity": "Fraxe综合征",
"start_idx": 46,
"type": "dis"
},
{
"end_idx": 63,
"entity": "CAG/CTG",
"start_idx": 57,
"type": "bod"
},
{
"end_idx": 65,
"entity": "CAG/CTG重复",
"start_idx": 57,
"type": "sym"
},
{
"end_idx": 72,
"entity": "重症肌无力",
"start_idx": 68,
"type": "dis"
},
{
"end_idx": 75,
"entity": "DM",
"start_idx": 74,
"type": "dis"
},
{
"end_idx": 83,
"entity": "X连锁的脊柱",
"start_idx": 78,
"type": "dis"
},
{
"end_idx": 89,
"entity": "延髓肌萎缩",
"start_idx": 85,
"type": "dis"
},
{
"end_idx": 102,
"entity": "脊髓与小脑运动失调-1型",
"start_idx": 91,
"type": "dis"
},
{
"end_idx": 107,
"entity": "SCA1",
"start_idx": 104,
"type": "dis"
},
{
"end_idx": 112,
"entity": "舞蹈症",
"start_idx": 110,
"type": "dis"
},
{
"end_idx": 117,
"entity": "亨廷顿病",
"start_idx": 114,
"type": "dis"
},
{
"end_idx": 121,
"entity": "齿状核",
"start_idx": 119,
"type": "dis"
},
{
"end_idx": 128,
"entity": "苍白球萎缩症",
"start_idx": 123,
"type": "dis"
},
{
"end_idx": 136,
"entity": "苍白球萎缩症",
"start_idx": 131,
"type": "dis"
},
{
"end_idx": 156,
"entity": "MJD",
"start_idx": 154,
"type": "dis"
}
] |
根据基因结构的改变方式，基因突变可分为碱基置换突变和移码突变两种类型。
|
[
{
"end_idx": 3,
"entity": "基因",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 13,
"entity": "基因",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 15,
"entity": "基因突变",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 20,
"entity": "碱基",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 24,
"entity": "碱基置换突变",
"start_idx": 19,
"type": "sym"
},
{
"end_idx": 27,
"entity": "移码",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 29,
"entity": "移码突变",
"start_idx": 26,
"type": "sym"
}
] |
碱基置换除了可改变编码区的密码子外，若发生在外显子与内含子连接部位（基因内含子剪接供体和受体位点）附近的内含子部位，突变内含子导致mRNA剪切异常，使mRNA短缺，mRNA异常，启动子区域的基因点突变可干扰基因的表达调控，干扰编码产物蛋白质的合成启动及合成速率，严重影响蛋白质的合成量。
|
[
{
"end_idx": 1,
"entity": "碱基",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 3,
"entity": "碱基置换",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 15,
"entity": "改变编码区的密码子",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 15,
"entity": "编码区的密码子",
"start_idx": 9,
"type": "bod"
},
{
"end_idx": 24,
"entity": "外显子",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 28,
"entity": "内含子",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 38,
"entity": "基因内含子",
"start_idx": 34,
"type": "bod"
},
{
"end_idx": 42,
"entity": "供体",
"start_idx": 41,
"type": "bod"
},
{
"end_idx": 45,
"entity": "受体",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 54,
"entity": "内含子",
"start_idx": 52,
"type": "bod"
},
{
"end_idx": 62,
"entity": "突变内含子",
"start_idx": 58,
"type": "sym"
},
{
"end_idx": 62,
"entity": "内含子",
"start_idx": 60,
"type": "bod"
},
{
"end_idx": 72,
"entity": "mRNA剪切异常",
"start_idx": 65,
"type": "sym"
},
{
"end_idx": 68,
"entity": "mRNA",
"start_idx": 65,
"type": "bod"
},
{
"end_idx": 78,
"entity": "mRNA",
"start_idx": 75,
"type": "bod"
},
{
"end_idx": 80,
"entity": "mRNA短缺",
"start_idx": 75,
"type": "sym"
},
{
"end_idx": 85,
"entity": "mRNA",
"start_idx": 82,
"type": "bod"
},
{
"end_idx": 87,
"entity": "mRNA异常",
"start_idx": 82,
"type": "sym"
},
{
"end_idx": 96,
"entity": "启动子区域的基因",
"start_idx": 89,
"type": "bod"
},
{
"end_idx": 99,
"entity": "启动子区域的基因点突变",
"start_idx": 89,
"type": "sym"
},
{
"end_idx": 109,
"entity": "干扰基因的表达调控",
"start_idx": 101,
"type": "sym"
},
{
"end_idx": 104,
"entity": "基因",
"start_idx": 103,
"type": "bod"
},
{
"end_idx": 129,
"entity": "干扰编码产物蛋白质的合成启动及合成速率",
"start_idx": 111,
"type": "sym"
},
{
"end_idx": 119,
"entity": "编码产物蛋白质",
"start_idx": 113,
"type": "bod"
},
{
"end_idx": 141,
"entity": "影响蛋白质的合成量",
"start_idx": 133,
"type": "sym"
},
{
"end_idx": 137,
"entity": "蛋白质",
"start_idx": 135,
"type": "bod"
}
] |
移码突变（frameshiftmutation）指基因中插入或者缺失一个或几个碱基对，使DNA的阅读框架（读码框）发生改变，导致插入或缺失部位之后的所有密码子都跟着发生变化，结果产生一种异常的多肽链。
|
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{
"end_idx": 1,
"entity": "移码",
"start_idx": 0,
"type": "bod"
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{
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"entity": "移码突变",
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},
{
"end_idx": 22,
"entity": "frameshiftmutation",
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{
"end_idx": 26,
"entity": "基因",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 41,
"entity": "基因中插入或者缺失一个或几个碱基对",
"start_idx": 25,
"type": "sym"
},
{
"end_idx": 41,
"entity": "碱基对",
"start_idx": 39,
"type": "bod"
},
{
"end_idx": 51,
"entity": "DNA的阅读框架",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 60,
"entity": "DNA的阅读框架（读码框）发生改变",
"start_idx": 44,
"type": "sym"
},
{
"end_idx": 55,
"entity": "读码框",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 85,
"entity": "插入或缺失部位之后的所有密码子都跟着发生变化",
"start_idx": 64,
"type": "sym"
},
{
"end_idx": 78,
"entity": "密码子",
"start_idx": 76,
"type": "bod"
},
{
"end_idx": 98,
"entity": "产生一种异常的多肽链",
"start_idx": 89,
"type": "sym"
},
{
"end_idx": 98,
"entity": "多肽链",
"start_idx": 96,
"type": "bod"
}
] |
根据遗传信息的改变方式，基因突变又可以分为同义突变、错义突变和无义突变三种类型。
|
[
{
"end_idx": 13,
"entity": "基因",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 15,
"entity": "基因突变",
"start_idx": 12,
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},
{
"end_idx": 24,
"entity": "同义突变",
"start_idx": 21,
"type": "sym"
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{
"end_idx": 29,
"entity": "错义突变",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 34,
"entity": "无义突变",
"start_idx": 31,
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}
] |
1.同义突变（synonymousmutation）DNA的一个碱基对的改变并不影响它所编码的蛋白质的氨基酸序列，这是因为改变后的密码子和改变前的密码子，它们编码同一种氨基酸。
|
[
{
"end_idx": 5,
"entity": "同义突变",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 24,
"entity": "synonymousmutation",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 28,
"entity": "DNA",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 37,
"entity": "DNA的一个碱基对的改变",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 34,
"entity": "碱基对",
"start_idx": 32,
"type": "bod"
},
{
"end_idx": 53,
"entity": "蛋白质的氨基酸",
"start_idx": 47,
"type": "bod"
},
{
"end_idx": 67,
"entity": "密码子",
"start_idx": 65,
"type": "bod"
},
{
"end_idx": 75,
"entity": "密码子",
"start_idx": 73,
"type": "bod"
},
{
"end_idx": 86,
"entity": "氨基酸",
"start_idx": 84,
"type": "bod"
}
] |
但目前发现个别原先认为是同义突变，可能会导致转录功能异常。
|
[
{
"end_idx": 15,
"entity": "同义突变",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 27,
"entity": "转录功能异常",
"start_idx": 22,
"type": "sym"
}
] |
2.错义突变（missensemutation）由于一对或几对碱基对的改变而使决定某一氨基酸的密码子变为决定另一种氨基酸的密码子，引起氨基酸序列和空间构象改变，导致它所编码的蛋白质部分或完全失活，例如人血红蛋白β链的基因如果将决定第6位氨基酸（谷氨酸）的密码子由CTT变为CAT，就会使它合成出的β链多肽的第6位氨基酸由谷氨酸变为缬氨酸，从而引起镰刀形红细胞贫血病。
|
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"end_idx": 5,
"entity": "错义突变",
"start_idx": 2,
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{
"end_idx": 22,
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"start_idx": 7,
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"entity": "一对或几对碱基对的改变",
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"end_idx": 33,
"entity": "碱基对",
"start_idx": 31,
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},
{
"end_idx": 63,
"entity": "决定某一氨基酸的密码子变为决定另一种氨基酸的密码子",
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"entity": "氨基酸",
"start_idx": 43,
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},
{
"end_idx": 49,
"entity": "密码子",
"start_idx": 47,
"type": "bod"
},
{
"end_idx": 59,
"entity": "氨基酸",
"start_idx": 57,
"type": "bod"
},
{
"end_idx": 63,
"entity": "密码子",
"start_idx": 61,
"type": "bod"
},
{
"end_idx": 78,
"entity": "引起氨基酸序列和空间构象改变",
"start_idx": 65,
"type": "sym"
},
{
"end_idx": 69,
"entity": "氨基酸",
"start_idx": 67,
"type": "bod"
},
{
"end_idx": 89,
"entity": "蛋白质",
"start_idx": 87,
"type": "bod"
},
{
"end_idx": 96,
"entity": "蛋白质部分或完全失活",
"start_idx": 87,
"type": "sym"
},
{
"end_idx": 109,
"entity": "血红蛋白β链的基因",
"start_idx": 101,
"type": "bod"
},
{
"end_idx": 138,
"entity": "决定第6位氨基酸（谷氨酸）的密码子由CTT变为CAT",
"start_idx": 113,
"type": "sym"
},
{
"end_idx": 120,
"entity": "第6位氨基酸",
"start_idx": 115,
"type": "bod"
},
{
"end_idx": 124,
"entity": "谷氨酸",
"start_idx": 122,
"type": "bod"
},
{
"end_idx": 129,
"entity": "密码子",
"start_idx": 127,
"type": "bod"
},
{
"end_idx": 133,
"entity": "CTT",
"start_idx": 131,
"type": "bod"
},
{
"end_idx": 138,
"entity": "CAT",
"start_idx": 136,
"type": "bod"
},
{
"end_idx": 167,
"entity": "合成出的β链多肽的第6位氨基酸由谷氨酸变为缬氨酸",
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"type": "sym"
},
{
"end_idx": 151,
"entity": "β链多肽",
"start_idx": 148,
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},
{
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"entity": "第6位氨基酸",
"start_idx": 153,
"type": "bod"
},
{
"end_idx": 162,
"entity": "谷氨酸",
"start_idx": 160,
"type": "bod"
},
{
"end_idx": 167,
"entity": "缬氨酸",
"start_idx": 165,
"type": "bod"
},
{
"end_idx": 181,
"entity": "镰刀形红细胞贫血病",
"start_idx": 173,
"type": "dis"
}
] |
3.无义突变（nonsensemutation）如果某一碱基被另一碱基替代后，决定某一氨基酸的密码子变成一个终止密码子，使翻译过程提前终止，合成的肽链变短，此终止密码子称为无义突变。
|
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{
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"entity": "无义突变",
"start_idx": 2,
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},
{
"end_idx": 22,
"entity": "nonsensemutation",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 36,
"entity": "某一碱基被另一碱基替代",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 29,
"entity": "碱基",
"start_idx": 28,
"type": "bod"
},
{
"end_idx": 34,
"entity": "碱基",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 58,
"entity": "决定某一氨基酸的密码子变成一个终止密码子",
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},
{
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},
{
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},
{
"end_idx": 58,
"entity": "终止密码子",
"start_idx": 54,
"type": "bod"
},
{
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"entity": "翻译过程提前终止",
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},
{
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"entity": "合成的肽链变短",
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},
{
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"entity": "肽链",
"start_idx": 73,
"type": "bod"
},
{
"end_idx": 83,
"entity": "终止密码子",
"start_idx": 79,
"type": "bod"
},
{
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"entity": "无义突变",
"start_idx": 86,
"type": "sym"
}
] |
参考文献1.胡亚美，江载芳.诸福棠实用儿科学.第7版.北京：人民卫生出版社，2002：1562-15622.Nationalhighbloodpressureeducationprogramworkinggrouponhighbloodpressureinchildrenandadolescents.Thefourthreportonthediagnosis，evaluation，andtreatmentofhighbloodpressureinchildrenandadolescents.Pediatrics，2004，114：555-5553.刘冲，杜忠东，李霞，等.住院儿童高血压的病因分析及鉴别诊断.首都医科大学学报，2010，31：187-1874.胡云南，易岂建.儿童高血压的诊治进展.儿科药学杂志，2010，16：57-605.MitsnefesMM.Hypertensioninchildrenandadolescents.PediatrCliNAm，2006，53：493-4936.FlyninJT，etal.Pharmacologictreatmentofhypertensioninchildrenandadolescents.JPediatr，2006，149：746-7467.FivushB，etal.Acutehypertensivecrisesinchildren：emergenciesandurgencies.CurrOpinPediar，1997，9：233-2338.KayJD，etal.Pediatrichypertension.AmHeartJ，2001，142：422-4329.齐建光，杜军保.儿童高血压及高血压危象的治疗.中国社区医师，2006，18：10-1010.中国高血压防治指南修订委员会.2004年中国高血压防治指南（实用本）.中华心血管病杂志，2004，32：1060-1060
|
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{
"end_idx": 20,
"entity": "儿科",
"start_idx": 19,
"type": "dep"
},
{
"end_idx": 78,
"entity": "highbloodpressure",
"start_idx": 62,
"type": "sym"
},
{
"end_idx": 70,
"entity": "blood",
"start_idx": 66,
"type": "bod"
},
{
"end_idx": 125,
"entity": "highbloodpressure",
"start_idx": 109,
"type": "sym"
},
{
"end_idx": 117,
"entity": "blood",
"start_idx": 113,
"type": "bod"
},
{
"end_idx": 222,
"entity": "highbloodpressure",
"start_idx": 206,
"type": "sym"
},
{
"end_idx": 214,
"entity": "blood",
"start_idx": 210,
"type": "bod"
},
{
"end_idx": 295,
"entity": "儿童高血压",
"start_idx": 291,
"type": "dis"
},
{
"end_idx": 345,
"entity": "儿童高血压",
"start_idx": 341,
"type": "dis"
},
{
"end_idx": 353,
"entity": "儿科",
"start_idx": 352,
"type": "dep"
},
{
"end_idx": 397,
"entity": "Hypertension",
"start_idx": 386,
"type": "dis"
},
{
"end_idx": 489,
"entity": "Pharmacologictreatment",
"start_idx": 468,
"type": "pro"
},
{
"end_idx": 503,
"entity": "hypertension",
"start_idx": 492,
"type": "dis"
},
{
"end_idx": 585,
"entity": "Acutehypertensive",
"start_idx": 569,
"type": "dis"
},
{
"end_idx": 689,
"entity": "Pediatrichypertension",
"start_idx": 669,
"type": "dis"
},
{
"end_idx": 730,
"entity": "儿童高血压",
"start_idx": 726,
"type": "dis"
},
{
"end_idx": 736,
"entity": "高血压危象",
"start_idx": 732,
"type": "dis"
},
{
"end_idx": 770,
"entity": "高血压防治",
"start_idx": 766,
"type": "pro"
},
{
"end_idx": 790,
"entity": "高血压防治",
"start_idx": 786,
"type": "pro"
},
{
"end_idx": 804,
"entity": "心血管病",
"start_idx": 801,
"type": "dis"
}
] |
七、腮腺炎病毒肺炎腮腺炎病毒肺炎（mumpspneumonia）常因其呼吸道症状不明显，易为腮腺肿大及其并发症所掩盖，以及极少进行X线肺部检查而漏诊。
|
[
{
"end_idx": 8,
"entity": "腮腺炎病毒肺炎",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 15,
"entity": "腮腺炎病毒肺炎",
"start_idx": 9,
"type": "dis"
},
{
"end_idx": 30,
"entity": "mumpspneumonia",
"start_idx": 17,
"type": "dis"
},
{
"end_idx": 37,
"entity": "呼吸道",
"start_idx": 35,
"type": "bod"
},
{
"end_idx": 39,
"entity": "呼吸道症状",
"start_idx": 35,
"type": "sym"
},
{
"end_idx": 49,
"entity": "腮腺肿大",
"start_idx": 46,
"type": "sym"
},
{
"end_idx": 70,
"entity": "X线肺部检查",
"start_idx": 65,
"type": "pro"
}
] |
临床表现大多较轻，一般无呼吸困难和发绀。
|
[
{
"end_idx": 15,
"entity": "呼吸困难",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 18,
"entity": "发绀",
"start_idx": 17,
"type": "sym"
}
] |
肺部呈局限性呼吸音粗糙，少数可闻水泡音。
|
[
{
"end_idx": 1,
"entity": "肺部",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 10,
"entity": "肺部呈局限性呼吸音粗糙",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 18,
"entity": "可闻水泡音",
"start_idx": 14,
"type": "sym"
}
] |
外周血白细胞计数多不升高。
|
[
{
"end_idx": 7,
"entity": "外周血白细胞计数",
"start_idx": 0,
"type": "ite"
}
] |
X线表现肺野斑片状或大片状阴影，或呈毛玻璃样改变。
|
[
{
"end_idx": 1,
"entity": "X线",
"start_idx": 0,
"type": "ite"
},
{
"end_idx": 23,
"entity": "X线表现肺野斑片状或大片状阴影，或呈毛玻璃样改变",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 4,
"entity": "肺",
"start_idx": 4,
"type": "bod"
}
] |
根据典型腮腺炎表现，加上述X线改变，可考虑本病。
|
[
{
"end_idx": 6,
"entity": "腮腺炎",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 14,
"entity": "X线",
"start_idx": 13,
"type": "pro"
}
] |
三、脂肪肉瘤脂肪肉瘤（liposarcoma）起源于原始间叶细胞，成人多见，小儿少见，多发于10～15岁，男女无差异。
|
[
{
"end_idx": 5,
"entity": "脂肪肉瘤",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 9,
"entity": "脂肪肉瘤",
"start_idx": 6,
"type": "dis"
},
{
"end_idx": 21,
"entity": "liposarcoma",
"start_idx": 11,
"type": "dis"
},
{
"end_idx": 31,
"entity": "原始间叶细胞",
"start_idx": 26,
"type": "bod"
}
] |
脂肪肉瘤分五种组织类型：分化良好型、黏液样型、圆细胞型、多形型和混合型。
|
[
{
"end_idx": 3,
"entity": "脂肪肉瘤",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 8,
"entity": "组织",
"start_idx": 7,
"type": "bod"
},
{
"end_idx": 25,
"entity": "圆细胞",
"start_idx": 23,
"type": "bod"
}
] |
脂肪肉瘤来自脂肪组织，故在全身各部位生长，最多发生于腹膜后，另为股部和膝部，肿瘤生长隐匿、缓慢，无明显界限，无特殊临床表现。
|
[
{
"end_idx": 3,
"entity": "脂肪肉瘤",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 9,
"entity": "脂肪组织",
"start_idx": 6,
"type": "bod"
},
{
"end_idx": 17,
"entity": "全身各部位",
"start_idx": 13,
"type": "bod"
},
{
"end_idx": 28,
"entity": "腹膜后",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 33,
"entity": "股部",
"start_idx": 32,
"type": "bod"
},
{
"end_idx": 36,
"entity": "膝部",
"start_idx": 35,
"type": "bod"
},
{
"end_idx": 39,
"entity": "肿瘤",
"start_idx": 38,
"type": "dis"
}
] |
治疗：手术完全切除是最好的治疗方法，放疗效果不确切，化疗只在手术无效或无法实施时才采用，常用药物为环磷酰胺、长春新碱、放线菌素D，但其效果也不明确。
|
[
{
"end_idx": 8,
"entity": "手术完全切除",
"start_idx": 3,
"type": "pro"
},
{
"end_idx": 19,
"entity": "放疗",
"start_idx": 18,
"type": "pro"
},
{
"end_idx": 27,
"entity": "化疗",
"start_idx": 26,
"type": "pro"
},
{
"end_idx": 31,
"entity": "手术",
"start_idx": 30,
"type": "pro"
},
{
"end_idx": 52,
"entity": "环磷酰胺",
"start_idx": 49,
"type": "dru"
},
{
"end_idx": 57,
"entity": "长春新碱",
"start_idx": 54,
"type": "dru"
},
{
"end_idx": 63,
"entity": "放线菌素D",
"start_idx": 59,
"type": "dru"
}
] |
二、出生后感染性肺炎【临床流行病学】出生后感染性肺炎发生率较高，常见的病原体有：金黄色葡萄球菌、大肠埃希菌、克雷伯杆菌、假单胞菌等细菌，呼吸道合胞病毒、腺病毒等病毒，以及卡氏肺囊虫、解脲支原体等。
|
[
{
"end_idx": 9,
"entity": "出生后感染性肺炎",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 15,
"entity": "流行病",
"start_idx": 13,
"type": "dis"
},
{
"end_idx": 25,
"entity": "出生后感染性肺炎",
"start_idx": 18,
"type": "dis"
},
{
"end_idx": 37,
"entity": "病原体",
"start_idx": 35,
"type": "mic"
},
{
"end_idx": 46,
"entity": "金黄色葡萄球菌",
"start_idx": 40,
"type": "mic"
},
{
"end_idx": 52,
"entity": "大肠埃希菌",
"start_idx": 48,
"type": "mic"
},
{
"end_idx": 58,
"entity": "克雷伯杆菌",
"start_idx": 54,
"type": "mic"
},
{
"end_idx": 63,
"entity": "假单胞菌",
"start_idx": 60,
"type": "mic"
},
{
"end_idx": 66,
"entity": "细菌",
"start_idx": 65,
"type": "mic"
},
{
"end_idx": 74,
"entity": "呼吸道合胞病毒",
"start_idx": 68,
"type": "mic"
},
{
"end_idx": 78,
"entity": "腺病毒",
"start_idx": 76,
"type": "mic"
},
{
"end_idx": 81,
"entity": "病毒",
"start_idx": 80,
"type": "mic"
},
{
"end_idx": 89,
"entity": "卡氏肺囊虫",
"start_idx": 85,
"type": "mic"
},
{
"end_idx": 95,
"entity": "解脲支原体",
"start_idx": 91,
"type": "mic"
}
] |
【病因机制和病理】出生后感染性肺炎的来源有：（一）接触传播接触新生儿者如患呼吸道感染，其病原体可经飞沫由上呼吸道向下传播至肺。
|
[
{
"end_idx": 16,
"entity": "出生后感染性肺炎",
"start_idx": 9,
"type": "dis"
},
{
"end_idx": 41,
"entity": "呼吸道感染",
"start_idx": 37,
"type": "dis"
},
{
"end_idx": 46,
"entity": "病原体",
"start_idx": 44,
"type": "mic"
},
{
"end_idx": 50,
"entity": "飞沫",
"start_idx": 49,
"type": "bod"
},
{
"end_idx": 55,
"entity": "呼吸道",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 61,
"entity": "肺",
"start_idx": 61,
"type": "bod"
}
] |
（二）血行传播脐炎、皮肤感染引起败血症时，病原体经血行传播至肺而引起肺炎。
|
[
{
"end_idx": 3,
"entity": "血",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 8,
"entity": "脐炎",
"start_idx": 7,
"type": "dis"
},
{
"end_idx": 13,
"entity": "皮肤感染",
"start_idx": 10,
"type": "dis"
},
{
"end_idx": 18,
"entity": "败血症",
"start_idx": 16,
"type": "dis"
},
{
"end_idx": 23,
"entity": "病原体",
"start_idx": 21,
"type": "mic"
},
{
"end_idx": 30,
"entity": "病原体经血行传播至肺",
"start_idx": 21,
"type": "sym"
},
{
"end_idx": 25,
"entity": "血",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 30,
"entity": "肺",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 35,
"entity": "肺炎",
"start_idx": 34,
"type": "dis"
}
] |
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