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另外，随着时间推移，NTDs临床医学和流行病学特征的改变，也提示了NTDs的病因异质性（不同临床表型之间存在的病因差异）。
|
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【病因与发病机制】研究NTDs病因，有必要搞清楚神经胚胎发育的正常过程。
|
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在人类胚胎发育第16天脊索上方外胚层增厚形成神经板两侧神经板增高形成神经褶并向中线靠拢融合形成神经管神经管融合最初出现在第22天，位于第3体节水平，即未来脑干形成区域，融合是从视原基部位开始，并自脑干和视原基部位向头和尾两个方向发展。
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"entity": "神经板",
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"entity": "两侧神经板",
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"entity": "神经褶",
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"entity": "脑干",
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"type": "bod"
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{
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"entity": "头",
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前神经管于胚胎发育第23～26天闭合，若闭合不全则形成颅裂及无脑畸形。
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而后神经管于胚胎发育第26～30天闭合，若闭合不全则形成脊柱裂。
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NTDs是一种多基因遗传病，其病因是极其复杂的，发病原因可能是多方面的，许多因素的干扰都会影响发病过程，根据动物实验、临床观察和流行病学研究认为NTDs是遗传因素和环境因素（子宫内环境）共同作用的结果。
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（一）遗传因素在NTDs病因研究中，很难把多基因或多因素作用与复杂的环境因素作用区别开来，如某些家族可能与共同生活的环境有关。
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这样，在病因中通常把某些特征归结为基因因素作用的结果，诸如不同地区和种族人群NTDs发病率的改变，近亲婚配NTDs发病率高，NTDs家族内的复发危险度高等。
|
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家系研究表明，有NTDs家族史的孕妇，其NTDs婴儿的出生概率比一般人群高。
|
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有过2次及以上NTDs生育经历的母亲再生育NTDs婴儿的危险性则提高10%。
|
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另外，双胎中NTDs的发病率比一般人群要高，且单卵双胎又比双卵双胎NTDs发病率高。
|
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这些研究结果均支持遗传因素对NTDs的作用。
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有关NTDs的遗传学研究结果不能用孟德尔遗传法则的单基因突变来解释，而是有多对基因遗传的基础，即微效基因。
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（二）环境因素环境致畸因子在妊娠早期，通常在3个月内作用于母体，导致神经管发育过程中出现障碍而发生畸形。
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研究较多的是母亲孕早期叶酸和其他多种维生素（包括维生素A、B1</sub>、B2</sub>、C、D、E以及尼克酸等）的缺乏与NTDs发生的关系，尤其是叶酸与NTDs关系自80年代以来已取得突破性进展，现已确定妇女怀孕早期叶酸缺乏是NTDs发生的主要原因。
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摄入不足、吸收不良、代谢障碍或需要增加等多种原因都可导致叶酸缺乏，致使DNA合成障碍，从而影响细胞分裂与增殖。
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叶酸是一种水溶性维生素，是胎儿早期神经发育必需的一种营养物质。
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怀孕早期正值胚胎分化以及胎盘形成阶段，细胞生长和分裂十分旺盛，如果孕妇叶酸缺乏，将影响胎儿神经系统雏形——神经管的正常发育，以后则将使颅骨或脊椎骨融合不良，出现NTDs，而引起自发性流产和死胎。
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其他微量元素如铜、钙和硒等的摄入不足也可诱发NTDs，但其确切作用尚不清楚。
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病毒学研究表明，母亲孕早期感染巨细胞病毒或A型流感病毒胎儿中枢神经系统发育障碍NTDs。
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母亲孕早期腹部或盆腔接受射线照射，其胎儿中枢神经系统发育往往受到影响，有的发生NTDs。
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患有癫痫的孕妇服用丙戊酸、苯巴比妥和苯妥英钠等抗癫痫药物，其后代容易发生NTDs。
|
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孕早期口服避孕药，服用某些抗肿瘤药物如氨甲蝶呤、维生素B4</sub>和巯基嘌呤等，以及大量或持续应用可的松或泼尼松龙，均可以诱发NTDs。
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【临床表现】NTDs是一组具有多种不同临床表型的先天畸形，主要包括无脑畸形、脑膨出及脊柱裂等。
|
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{
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] |
现将常见的几种NTDs分述如下。
|
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（一）无脑畸形无脑畸形（anencephaly）是一种严重的NTDs，为脑的全部或大部缺如。
|
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{
"end_idx": 44,
"entity": "脑的全部或大部缺如",
"start_idx": 36,
"type": "sym"
},
{
"end_idx": 42,
"entity": "脑的全部或大部",
"start_idx": 36,
"type": "bod"
}
] |
头颅的缺损从顶部开始，可延伸到其与枕骨大孔的任何部位。
|
[
{
"end_idx": 1,
"entity": "头颅",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 4,
"entity": "头颅的缺损",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 25,
"entity": "枕骨大孔的任何部位",
"start_idx": 17,
"type": "bod"
}
] |
患儿因颅骨穹隆缺如造成面部特殊外貌前颅窝缩短和眼眶变浅眼球向前突出下颌紧贴胸骨口半张开，耳廓很厚，前突出于头的两侧呈非常奇特的“蛙状脸”。
|
[
{
"end_idx": 8,
"entity": "颅骨穹隆缺如",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 6,
"entity": "颅骨穹隆",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 12,
"entity": "面部",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 16,
"entity": "面部特殊外貌",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 19,
"entity": "前颅窝",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 21,
"entity": "前颅窝缩短",
"start_idx": 17,
"type": "sym"
},
{
"end_idx": 24,
"entity": "眼眶",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 26,
"entity": "眼眶变浅",
"start_idx": 23,
"type": "sym"
},
{
"end_idx": 28,
"entity": "眼球",
"start_idx": 27,
"type": "bod"
},
{
"end_idx": 32,
"entity": "眼球向前突出",
"start_idx": 27,
"type": "sym"
},
{
"end_idx": 34,
"entity": "下颌",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 36,
"entity": "下颌紧贴",
"start_idx": 33,
"type": "sym"
},
{
"end_idx": 42,
"entity": "胸骨口半张开",
"start_idx": 37,
"type": "sym"
},
{
"end_idx": 39,
"entity": "胸骨口",
"start_idx": 37,
"type": "bod"
},
{
"end_idx": 45,
"entity": "耳廓",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 56,
"entity": "耳廓很厚，前突出于头的两侧",
"start_idx": 44,
"type": "sym"
},
{
"end_idx": 56,
"entity": "头的两侧",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 66,
"entity": "蛙状脸",
"start_idx": 64,
"type": "sym"
},
{
"end_idx": 66,
"entity": "脸",
"start_idx": 66,
"type": "bod"
}
] |
几乎都伴有母体羊水过多颅裂、脑膜膨出与脑脑膜膨出颅裂纯属先天颅骨发育异常，表现为颅缝闭合不全而遗有缺损，形成一个缺口。
|
[
{
"end_idx": 10,
"entity": "母体羊水过多",
"start_idx": 5,
"type": "sym"
},
{
"end_idx": 8,
"entity": "母体羊水",
"start_idx": 5,
"type": "bod"
},
{
"end_idx": 12,
"entity": "颅裂",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 11,
"entity": "颅",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 17,
"entity": "脑膜膨出",
"start_idx": 14,
"type": "sym"
},
{
"end_idx": 15,
"entity": "脑膜",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 23,
"entity": "脑脑膜膨出",
"start_idx": 19,
"type": "sym"
},
{
"end_idx": 21,
"entity": "脑脑膜",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 25,
"entity": "颅裂",
"start_idx": 24,
"type": "sym"
},
{
"end_idx": 24,
"entity": "颅",
"start_idx": 24,
"type": "bod"
},
{
"end_idx": 35,
"entity": "先天颅骨发育异常",
"start_idx": 28,
"type": "sym"
},
{
"end_idx": 31,
"entity": "颅骨",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 57,
"entity": "颅缝闭合不全而遗有缺损，形成一个缺口",
"start_idx": 40,
"type": "sym"
},
{
"end_idx": 41,
"entity": "颅缝",
"start_idx": 40,
"type": "bod"
}
] |
一般多发生在颅盖骨或颅底骨的中线，少数偏于一侧。
|
[
{
"end_idx": 8,
"entity": "颅盖骨",
"start_idx": 6,
"type": "bod"
},
{
"end_idx": 15,
"entity": "颅底骨的中线",
"start_idx": 10,
"type": "bod"
}
] |
如果从裂孔处无脑膜或脑组织膨出，则称为隐性颅裂。
|
[
{
"end_idx": 8,
"entity": "脑膜",
"start_idx": 7,
"type": "bod"
},
{
"end_idx": 14,
"entity": "脑组织膨出",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 12,
"entity": "脑组织",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 22,
"entity": "隐性颅裂",
"start_idx": 19,
"type": "sym"
},
{
"end_idx": 21,
"entity": "颅",
"start_idx": 21,
"type": "bod"
}
] |
反之，在颅裂的基础上，有脑膜或脑组织膨出则称囊性（显性）颅裂，其中囊内容物仅为脑脊液者称为脑膜膨出；囊内容物含有脑组织者称为脑脑膜膨出。
|
[
{
"end_idx": 5,
"entity": "颅裂",
"start_idx": 4,
"type": "sym"
},
{
"end_idx": 4,
"entity": "颅",
"start_idx": 4,
"type": "bod"
},
{
"end_idx": 19,
"entity": "有脑膜或脑组织膨出",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 13,
"entity": "脑膜",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 17,
"entity": "脑组织",
"start_idx": 15,
"type": "bod"
},
{
"end_idx": 29,
"entity": "囊性（显性）颅裂",
"start_idx": 22,
"type": "dis"
},
{
"end_idx": 36,
"entity": "囊内容物",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 41,
"entity": "囊内容物仅为脑脊液",
"start_idx": 33,
"type": "sym"
},
{
"end_idx": 41,
"entity": "脑脊液",
"start_idx": 39,
"type": "bod"
},
{
"end_idx": 48,
"entity": "脑膜膨出",
"start_idx": 45,
"type": "sym"
},
{
"end_idx": 46,
"entity": "脑膜",
"start_idx": 45,
"type": "bod"
},
{
"end_idx": 53,
"entity": "囊内容物",
"start_idx": 50,
"type": "bod"
},
{
"end_idx": 58,
"entity": "囊内容物含有脑组织",
"start_idx": 50,
"type": "sym"
},
{
"end_idx": 58,
"entity": "脑组织",
"start_idx": 56,
"type": "bod"
},
{
"end_idx": 66,
"entity": "脑脑膜膨出",
"start_idx": 62,
"type": "sym"
},
{
"end_idx": 64,
"entity": "脑脑膜",
"start_idx": 62,
"type": "bod"
}
] |
其实脑膜膨出和脑脑膜膨出是脑膨出中最多见的两种类型。
|
[
{
"end_idx": 5,
"entity": "脑膜膨出",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 3,
"entity": "脑膜",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 11,
"entity": "脑脑膜膨出",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 9,
"entity": "脑脑膜",
"start_idx": 7,
"type": "bod"
},
{
"end_idx": 15,
"entity": "脑膨出",
"start_idx": 13,
"type": "dis"
}
] |
隐性颅裂在临床上多无症状，大多在做头颅X线检查时偶然发现，可见边缘光滑的颅骨缺损神经受损症状。
|
[
{
"end_idx": 3,
"entity": "隐性颅裂",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 2,
"entity": "颅",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 22,
"entity": "头颅X线检查",
"start_idx": 17,
"type": "pro"
},
{
"end_idx": 39,
"entity": "边缘光滑的颅骨缺损",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 37,
"entity": "颅骨",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 43,
"entity": "神经受损",
"start_idx": 40,
"type": "sym"
},
{
"end_idx": 41,
"entity": "神经",
"start_idx": 40,
"type": "bod"
}
] |
囊性颅裂的脑膜膨出或脑脑膜膨出，可以有以下三方面的表现①局部症状：一般多为圆形或椭圆形的囊性膨出包块，如位于鼻根多为扁平状包块，其大小各异，大者近似儿头，小者直径可几厘米，有的生后即很大，有的逐渐长大厚者触之软而有弹性感，有的表面似有瘢痕状而较硬。
|
[
{
"end_idx": 3,
"entity": "囊性颅裂",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 2,
"entity": "颅",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 8,
"entity": "脑膜膨出",
"start_idx": 5,
"type": "sym"
},
{
"end_idx": 6,
"entity": "脑膜",
"start_idx": 5,
"type": "bod"
},
{
"end_idx": 14,
"entity": "脑脑膜膨出",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 12,
"entity": "脑脑膜",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 49,
"entity": "圆形或椭圆形的囊性膨出包块",
"start_idx": 37,
"type": "sym"
},
{
"end_idx": 122,
"entity": "位于鼻根多为扁平状包块，其大小各异，大者近似儿头，小者直径可几厘米，有的生后即很大，有的逐渐长大厚者触之软而有弹性感，有的表面似有瘢痕状而较硬",
"start_idx": 52,
"type": "sym"
},
{
"end_idx": 55,
"entity": "鼻根",
"start_idx": 54,
"type": "bod"
},
{
"end_idx": 75,
"entity": "头",
"start_idx": 75,
"type": "bod"
}
] |
其基底部可为细的带状或为广阔基底。
|
[
{
"end_idx": 9,
"entity": "其基底部可为细的带状",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 3,
"entity": "基底部",
"start_idx": 1,
"type": "bod"
},
{
"end_idx": 15,
"entity": "广阔基底",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 15,
"entity": "基底",
"start_idx": 14,
"type": "bod"
}
] |
有的可触及骨缺损的边缘。
|
[
{
"end_idx": 7,
"entity": "骨缺损",
"start_idx": 5,
"type": "dis"
}
] |
囊性包块透光试验阳性，在脑脑膜膨出时有可能见到膨出的脑组织阴影。
|
[
{
"end_idx": 9,
"entity": "囊性包块透光试验阳性",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 7,
"entity": "囊性包块透光试验",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 16,
"entity": "脑脑膜膨出",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 14,
"entity": "脑脑膜",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 30,
"entity": "膨出的脑组织阴影",
"start_idx": 23,
"type": "sym"
},
{
"end_idx": 28,
"entity": "脑组织",
"start_idx": 26,
"type": "bod"
}
] |
如发生在鼻根部时，可一侧或双侧嗅觉丧失，如膨出突入眶内Ⅱ、Ⅲ、Ⅳ、Ⅵ颅神经及第Ⅴ颅神经的第一支受累。
|
[
{
"end_idx": 6,
"entity": "鼻根部",
"start_idx": 4,
"type": "bod"
},
{
"end_idx": 18,
"entity": "一侧或双侧嗅觉丧失",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 26,
"entity": "膨出突入眶内",
"start_idx": 21,
"type": "sym"
},
{
"end_idx": 26,
"entity": "眶内",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 48,
"entity": "Ⅱ、Ⅲ、Ⅳ、Ⅵ颅神经及第Ⅴ颅神经的第一支受累",
"start_idx": 27,
"type": "sym"
},
{
"end_idx": 36,
"entity": "Ⅱ、Ⅲ、Ⅳ、Ⅵ颅神经",
"start_idx": 27,
"type": "bod"
},
{
"end_idx": 46,
"entity": "第Ⅴ颅神经的第一支",
"start_idx": 38,
"type": "bod"
}
] |
如发生在枕部的脑脑膜膨出，可有皮质盲及小脑受损症状器官的受压表现：膨出位于鼻根部者，常引起颜面畸形，鼻根扁宽，眼距加大，眶腔变小，有时眼睛呈三角形，双眼球被挤向外侧，可累及泪腺致泪囊炎。
|
[
{
"end_idx": 11,
"entity": "枕部的脑脑膜膨出",
"start_idx": 4,
"type": "sym"
},
{
"end_idx": 9,
"entity": "枕部的脑脑膜",
"start_idx": 4,
"type": "bod"
},
{
"end_idx": 22,
"entity": "皮质盲及小脑受损",
"start_idx": 15,
"type": "dis"
},
{
"end_idx": 29,
"entity": "器官的受压",
"start_idx": 25,
"type": "sym"
},
{
"end_idx": 26,
"entity": "器官",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 39,
"entity": "膨出位于鼻根部",
"start_idx": 33,
"type": "sym"
},
{
"end_idx": 39,
"entity": "鼻根部",
"start_idx": 37,
"type": "bod"
},
{
"end_idx": 48,
"entity": "颜面畸形",
"start_idx": 45,
"type": "dis"
},
{
"end_idx": 53,
"entity": "鼻根扁宽",
"start_idx": 50,
"type": "sym"
},
{
"end_idx": 51,
"entity": "鼻根",
"start_idx": 50,
"type": "bod"
},
{
"end_idx": 58,
"entity": "眼距加大",
"start_idx": 55,
"type": "sym"
},
{
"end_idx": 55,
"entity": "眼",
"start_idx": 55,
"type": "bod"
},
{
"end_idx": 63,
"entity": "眶腔变小",
"start_idx": 60,
"type": "sym"
},
{
"end_idx": 61,
"entity": "眶腔",
"start_idx": 60,
"type": "bod"
},
{
"end_idx": 72,
"entity": "有时眼睛呈三角形",
"start_idx": 65,
"type": "sym"
},
{
"end_idx": 68,
"entity": "眼睛",
"start_idx": 67,
"type": "bod"
},
{
"end_idx": 81,
"entity": "双眼球被挤向外侧",
"start_idx": 74,
"type": "sym"
},
{
"end_idx": 76,
"entity": "双眼球",
"start_idx": 74,
"type": "bod"
},
{
"end_idx": 87,
"entity": "累及泪腺",
"start_idx": 84,
"type": "sym"
},
{
"end_idx": 87,
"entity": "泪腺",
"start_idx": 86,
"type": "bod"
},
{
"end_idx": 91,
"entity": "泪囊炎",
"start_idx": 89,
"type": "dis"
}
] |
突入鼻腔可影响呼吸或侧卧时才呼吸通畅。
|
[
{
"end_idx": 3,
"entity": "突入鼻腔",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 3,
"entity": "鼻腔",
"start_idx": 2,
"type": "bod"
}
] |
膨出突入眶内时，可致眼球突出及移位脊柱裂、脊膜膨出与脊髓脊膜膨出脊柱裂是胚胎早期椎弓发育障碍，椎管闭合不全。
|
[
{
"end_idx": 5,
"entity": "膨出突入眶内",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 5,
"entity": "眶内",
"start_idx": 4,
"type": "bod"
},
{
"end_idx": 11,
"entity": "眼球",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 16,
"entity": "眼球突出及移位",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 19,
"entity": "脊柱裂",
"start_idx": 17,
"type": "dis"
},
{
"end_idx": 24,
"entity": "脊膜膨出",
"start_idx": 21,
"type": "sym"
},
{
"end_idx": 22,
"entity": "脊膜",
"start_idx": 21,
"type": "bod"
},
{
"end_idx": 31,
"entity": "脊髓脊膜膨出",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 29,
"entity": "脊髓脊膜",
"start_idx": 26,
"type": "bod"
},
{
"end_idx": 34,
"entity": "脊柱裂",
"start_idx": 32,
"type": "dis"
},
{
"end_idx": 45,
"entity": "椎弓发育障碍",
"start_idx": 40,
"type": "dis"
},
{
"end_idx": 52,
"entity": "椎管闭合不全",
"start_idx": 47,
"type": "dis"
}
] |
可发生在脊椎的任何部位，如颈椎、胸椎、腰椎和骶椎，以腰骶部最常见。
|
[
{
"end_idx": 5,
"entity": "脊椎",
"start_idx": 4,
"type": "bod"
},
{
"end_idx": 14,
"entity": "颈椎",
"start_idx": 13,
"type": "bod"
},
{
"end_idx": 17,
"entity": "胸椎",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 20,
"entity": "腰椎",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 23,
"entity": "骶椎",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 28,
"entity": "腰骶部",
"start_idx": 26,
"type": "bod"
}
] |
脊柱裂分为隐性与显性两类，前者是指有脊柱裂而无椎管内容物膨出；后者由于椎板闭合不全，椎管内容物通过缺损处向椎管外膨出，在背部皮下形成囊性包块。
|
[
{
"end_idx": 2,
"entity": "脊柱裂",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 20,
"entity": "脊柱裂",
"start_idx": 18,
"type": "dis"
},
{
"end_idx": 29,
"entity": "椎管内容物膨出",
"start_idx": 23,
"type": "sym"
},
{
"end_idx": 27,
"entity": "椎管内容物",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 40,
"entity": "椎板闭合不全",
"start_idx": 35,
"type": "dis"
},
{
"end_idx": 46,
"entity": "椎管内容物",
"start_idx": 42,
"type": "bod"
},
{
"end_idx": 57,
"entity": "椎管内容物通过缺损处向椎管外膨出",
"start_idx": 42,
"type": "sym"
},
{
"end_idx": 55,
"entity": "椎管外",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 69,
"entity": "在背部皮下形成囊性包块",
"start_idx": 59,
"type": "sym"
},
{
"end_idx": 63,
"entity": "背部皮下",
"start_idx": 60,
"type": "bod"
}
] |
显性脊柱裂又称为囊性脊柱裂，以脊膜膨出和脊髓脊膜膨出两种类型为多见，其中脊膜膨出的囊内充满脑脊液，无神经组织；而脊髓脊膜膨出的囊内既有脑脊液又有脊髓及其脊神经突入隐性脊柱裂大部分临床上无症状，大多是在X线检查中无意发现的，可见脊椎椎板缺损未闭合下肢无力、遗尿或大小便失禁等，缘于神经根与裂孔处有纤维带粘连或压迫所致。
|
[
{
"end_idx": 4,
"entity": "显性脊柱裂",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 12,
"entity": "囊性脊柱裂",
"start_idx": 8,
"type": "dis"
},
{
"end_idx": 18,
"entity": "脊膜膨出",
"start_idx": 15,
"type": "sym"
},
{
"end_idx": 16,
"entity": "脊膜",
"start_idx": 15,
"type": "bod"
},
{
"end_idx": 25,
"entity": "脊髓脊膜膨出",
"start_idx": 20,
"type": "sym"
},
{
"end_idx": 23,
"entity": "脊髓脊膜",
"start_idx": 20,
"type": "bod"
},
{
"end_idx": 47,
"entity": "脊膜膨出的囊内充满脑脊液",
"start_idx": 36,
"type": "sym"
},
{
"end_idx": 42,
"entity": "脊膜膨出的囊内",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 47,
"entity": "脑脊液",
"start_idx": 45,
"type": "bod"
},
{
"end_idx": 53,
"entity": "神经组织",
"start_idx": 50,
"type": "bod"
},
{
"end_idx": 64,
"entity": "脊髓脊膜膨出的囊内",
"start_idx": 56,
"type": "bod"
},
{
"end_idx": 80,
"entity": "脊髓脊膜膨出的囊内既有脑脊液又有脊髓及其脊神经突入",
"start_idx": 56,
"type": "sym"
},
{
"end_idx": 69,
"entity": "脑脊液",
"start_idx": 67,
"type": "bod"
},
{
"end_idx": 73,
"entity": "脊髓",
"start_idx": 72,
"type": "bod"
},
{
"end_idx": 78,
"entity": "脊神经",
"start_idx": 76,
"type": "bod"
},
{
"end_idx": 85,
"entity": "隐性脊柱裂",
"start_idx": 81,
"type": "dis"
},
{
"end_idx": 103,
"entity": "X线检查",
"start_idx": 100,
"type": "pro"
},
{
"end_idx": 116,
"entity": "脊椎椎板",
"start_idx": 113,
"type": "bod"
},
{
"end_idx": 121,
"entity": "脊椎椎板缺损未闭合",
"start_idx": 113,
"type": "sym"
},
{
"end_idx": 125,
"entity": "下肢无力",
"start_idx": 122,
"type": "sym"
},
{
"end_idx": 123,
"entity": "下肢",
"start_idx": 122,
"type": "bod"
},
{
"end_idx": 128,
"entity": "遗尿",
"start_idx": 127,
"type": "sym"
},
{
"end_idx": 134,
"entity": "大小便失禁",
"start_idx": 130,
"type": "sym"
},
{
"end_idx": 132,
"entity": "大小便",
"start_idx": 130,
"type": "bod"
},
{
"end_idx": 154,
"entity": "神经根与裂孔处有纤维带粘连或压迫",
"start_idx": 139,
"type": "sym"
},
{
"end_idx": 141,
"entity": "神经根",
"start_idx": 139,
"type": "bod"
},
{
"end_idx": 149,
"entity": "纤维带",
"start_idx": 147,
"type": "bod"
}
] |
脊膜膨出和脊髓脊膜膨出的临床表现分为三个方面：①局部包块：患儿出生时，在背部中线颈、胸或腰骶部可见一大小不等的囊性包块，呈圆形或椭圆形，多数基底较宽，少数为带状表面皮肤正常，也有时为瘢痕样，而且菲薄婴儿哭闹时包块膨大，压迫包块则前囟门膨隆，显示膨出包块与蛛网膜下腔相通包块透光试验，单纯的脊膜膨出，透光程度高，而内含脊髓与神经根者，可见包块内有阴影。
|
[
{
"end_idx": 3,
"entity": "脊膜膨出",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 10,
"entity": "脊髓脊膜膨出",
"start_idx": 5,
"type": "dis"
},
{
"end_idx": 27,
"entity": "局部包块",
"start_idx": 24,
"type": "sym"
},
{
"end_idx": 40,
"entity": "背部中线颈",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 79,
"entity": "背部中线颈、胸或腰骶部可见一大小不等的囊性包块，呈圆形或椭圆形，多数基底较宽，少数为带状",
"start_idx": 36,
"type": "sym"
},
{
"end_idx": 42,
"entity": "胸",
"start_idx": 42,
"type": "bod"
},
{
"end_idx": 46,
"entity": "腰骶部",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 58,
"entity": "囊性包块",
"start_idx": 55,
"type": "bod"
},
{
"end_idx": 83,
"entity": "表面皮肤",
"start_idx": 80,
"type": "bod"
},
{
"end_idx": 98,
"entity": "表面皮肤正常，也有时为瘢痕样，而且菲薄",
"start_idx": 80,
"type": "sym"
},
{
"end_idx": 105,
"entity": "包块",
"start_idx": 104,
"type": "bod"
},
{
"end_idx": 107,
"entity": "包块膨大",
"start_idx": 104,
"type": "sym"
},
{
"end_idx": 118,
"entity": "压迫包块则前囟门膨隆",
"start_idx": 109,
"type": "sym"
},
{
"end_idx": 112,
"entity": "包块",
"start_idx": 111,
"type": "bod"
},
{
"end_idx": 116,
"entity": "前囟门",
"start_idx": 114,
"type": "bod"
},
{
"end_idx": 125,
"entity": "膨出包块",
"start_idx": 122,
"type": "bod"
},
{
"end_idx": 133,
"entity": "膨出包块与蛛网膜下腔相通",
"start_idx": 122,
"type": "sym"
},
{
"end_idx": 131,
"entity": "蛛网膜下腔",
"start_idx": 127,
"type": "bod"
},
{
"end_idx": 139,
"entity": "包块透光试验",
"start_idx": 134,
"type": "pro"
},
{
"end_idx": 147,
"entity": "脊膜膨出",
"start_idx": 144,
"type": "sym"
},
{
"end_idx": 145,
"entity": "脊膜",
"start_idx": 144,
"type": "bod"
},
{
"end_idx": 159,
"entity": "脊髓",
"start_idx": 158,
"type": "bod"
},
{
"end_idx": 163,
"entity": "神经根",
"start_idx": 161,
"type": "bod"
},
{
"end_idx": 173,
"entity": "可见包块内有阴影",
"start_idx": 166,
"type": "sym"
},
{
"end_idx": 170,
"entity": "包块内",
"start_idx": 168,
"type": "bod"
}
] |
②神经损害症状：单纯的脊膜膨出，可以无神经系统症状。
|
[
{
"end_idx": 4,
"entity": "神经损害",
"start_idx": 1,
"type": "dis"
},
{
"end_idx": 14,
"entity": "脊膜膨出",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 12,
"entity": "脊膜",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 22,
"entity": "神经系统",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 24,
"entity": "神经系统症状",
"start_idx": 19,
"type": "sym"
}
] |
③其他症状：少数脊膜膨出向胸腔、腹腔以及盆腔内伸长，出现包块及压迫内脏的症状脊膜膨出患儿合并脑积水和其他畸形，出现相应症状。
|
[
{
"end_idx": 24,
"entity": "少数脊膜膨出向胸腔、腹腔以及盆腔内伸长",
"start_idx": 6,
"type": "sym"
},
{
"end_idx": 9,
"entity": "脊膜",
"start_idx": 8,
"type": "bod"
},
{
"end_idx": 14,
"entity": "胸腔",
"start_idx": 13,
"type": "bod"
},
{
"end_idx": 17,
"entity": "腹腔",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 21,
"entity": "盆腔",
"start_idx": 20,
"type": "bod"
},
{
"end_idx": 29,
"entity": "出现包块",
"start_idx": 26,
"type": "sym"
},
{
"end_idx": 34,
"entity": "压迫内脏",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 34,
"entity": "内脏",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 41,
"entity": "脊膜膨出",
"start_idx": 38,
"type": "sym"
},
{
"end_idx": 39,
"entity": "脊膜",
"start_idx": 38,
"type": "bod"
},
{
"end_idx": 48,
"entity": "脑积水",
"start_idx": 46,
"type": "dis"
},
{
"end_idx": 53,
"entity": "畸形",
"start_idx": 52,
"type": "dis"
}
] |
【诊断】无脑畸形患儿的临床表现一目了然，无需做CT或MRI检查即可进行临床诊断。
|
[
{
"end_idx": 7,
"entity": "无脑畸形",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 24,
"entity": "CT",
"start_idx": 23,
"type": "pro"
},
{
"end_idx": 30,
"entity": "MRI检查",
"start_idx": 26,
"type": "pro"
}
] |
但CT或MRI检查对产前诊断是有帮助的，特别是MRI，可显示宫内胎儿颅脑发育情况，如颅盖缺如脑组织缺如羊水过多。
|
[
{
"end_idx": 2,
"entity": "CT",
"start_idx": 1,
"type": "pro"
},
{
"end_idx": 8,
"entity": "MRI检查",
"start_idx": 4,
"type": "pro"
},
{
"end_idx": 25,
"entity": "MRI",
"start_idx": 23,
"type": "pro"
},
{
"end_idx": 33,
"entity": "宫内胎儿",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 35,
"entity": "颅脑",
"start_idx": 34,
"type": "bod"
},
{
"end_idx": 43,
"entity": "颅盖",
"start_idx": 42,
"type": "bod"
},
{
"end_idx": 45,
"entity": "颅盖缺如",
"start_idx": 42,
"type": "sym"
},
{
"end_idx": 48,
"entity": "脑组织",
"start_idx": 46,
"type": "bod"
},
{
"end_idx": 50,
"entity": "脑组织缺如",
"start_idx": 46,
"type": "sym"
},
{
"end_idx": 54,
"entity": "羊水过多",
"start_idx": 51,
"type": "sym"
},
{
"end_idx": 52,
"entity": "羊水",
"start_idx": 51,
"type": "bod"
}
] |
头颅X线片可发现有大小不等的颅骨缺损头颅CT平扫可显示颅骨缺损脑脊液同样密度的囊性肿物，如合并脑脑膜膨出则可见囊内有脑组织密度影。
|
[
{
"end_idx": 4,
"entity": "头颅X线片",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 17,
"entity": "头颅X线片可发现有大小不等的颅骨缺损",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 15,
"entity": "颅骨",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 23,
"entity": "头颅CT平扫",
"start_idx": 18,
"type": "pro"
},
{
"end_idx": 30,
"entity": "头颅CT平扫可显示颅骨缺损",
"start_idx": 18,
"type": "sym"
},
{
"end_idx": 28,
"entity": "颅骨",
"start_idx": 27,
"type": "bod"
},
{
"end_idx": 33,
"entity": "脑脊液",
"start_idx": 31,
"type": "bod"
},
{
"end_idx": 42,
"entity": "囊性肿物",
"start_idx": 39,
"type": "sym"
},
{
"end_idx": 51,
"entity": "脑脑膜膨出",
"start_idx": 47,
"type": "sym"
},
{
"end_idx": 49,
"entity": "脑脑膜",
"start_idx": 47,
"type": "bod"
},
{
"end_idx": 56,
"entity": "囊内",
"start_idx": 55,
"type": "bod"
},
{
"end_idx": 63,
"entity": "囊内有脑组织密度影",
"start_idx": 55,
"type": "sym"
},
{
"end_idx": 60,
"entity": "脑组织",
"start_idx": 58,
"type": "bod"
}
] |
头颅CT增强扫描可显示囊内脑组织强化，囊与蛛网膜下腔相交通头颅MRI扫描可见颅骨缺损及由此膨出的脑脊液、脑组织、脑血管及硬脑膜组织信号的肿物，并可见颅内其他结构的改变及畸形。
|
[
{
"end_idx": 7,
"entity": "头颅CT增强扫描",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 28,
"entity": "头颅CT增强扫描可显示囊内脑组织强化，囊与蛛网膜下腔相交通",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 15,
"entity": "囊内脑组织",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 19,
"entity": "囊",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 25,
"entity": "蛛网膜下腔",
"start_idx": 21,
"type": "bod"
},
{
"end_idx": 35,
"entity": "头颅MRI扫描",
"start_idx": 29,
"type": "pro"
},
{
"end_idx": 85,
"entity": "头颅MRI扫描可见颅骨缺损及由此膨出的脑脊液、脑组织、脑血管及硬脑膜组织信号的肿物，并可见颅内其他结构的改变及畸形",
"start_idx": 29,
"type": "sym"
},
{
"end_idx": 39,
"entity": "颅骨",
"start_idx": 38,
"type": "bod"
},
{
"end_idx": 50,
"entity": "脑脊液",
"start_idx": 48,
"type": "bod"
},
{
"end_idx": 54,
"entity": "脑组织",
"start_idx": 52,
"type": "bod"
},
{
"end_idx": 58,
"entity": "脑血管",
"start_idx": 56,
"type": "bod"
},
{
"end_idx": 69,
"entity": "硬脑膜组织信号的肿物",
"start_idx": 60,
"type": "bod"
},
{
"end_idx": 79,
"entity": "颅内其他结构",
"start_idx": 74,
"type": "bod"
},
{
"end_idx": 85,
"entity": "畸形",
"start_idx": 84,
"type": "dis"
}
] |
脊柱X线片显示椎板棘突缺如，椎弓根间距增宽，骨质缺损部位与软组织肿物相连接CT及MRI扫描可发现脊髓、脊神经及脊膜的膨出情况，以及局部粘连等病变。
|
[
{
"end_idx": 4,
"entity": "脊柱X线片",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 36,
"entity": "脊柱X线片显示椎板棘突缺如，椎弓根间距增宽，骨质缺损部位与软组织肿物相连接",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 10,
"entity": "椎板棘突",
"start_idx": 7,
"type": "bod"
},
{
"end_idx": 16,
"entity": "椎弓根",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 23,
"entity": "骨质",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 33,
"entity": "软组织肿物",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 38,
"entity": "CT",
"start_idx": 37,
"type": "pro"
},
{
"end_idx": 71,
"entity": "CT及MRI扫描可发现脊髓、脊神经及脊膜的膨出情况，以及局部粘连等病变",
"start_idx": 37,
"type": "sym"
},
{
"end_idx": 44,
"entity": "MRI扫描",
"start_idx": 40,
"type": "pro"
},
{
"end_idx": 49,
"entity": "脊髓",
"start_idx": 48,
"type": "bod"
},
{
"end_idx": 53,
"entity": "脊神经",
"start_idx": 51,
"type": "bod"
},
{
"end_idx": 56,
"entity": "脊膜",
"start_idx": 55,
"type": "bod"
}
] |
【治疗】无脑畸形患儿不能外科手术治疗。
|
[
{
"end_idx": 7,
"entity": "无脑畸形",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 15,
"entity": "外科手术",
"start_idx": 12,
"type": "pro"
}
] |
单纯颅裂一般无需特殊治疗。
|
[
{
"end_idx": 3,
"entity": "单纯颅裂",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 2,
"entity": "颅",
"start_idx": 2,
"type": "bod"
},
{
"end_idx": 11,
"entity": "特殊治疗",
"start_idx": 8,
"type": "pro"
}
] |
当合并脑膜膨出或脑脑膜膨出时，一般均需手术治疗。
|
[
{
"end_idx": 6,
"entity": "脑膜膨出",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 4,
"entity": "脑膜",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 12,
"entity": "脑脑膜膨出",
"start_idx": 8,
"type": "sym"
},
{
"end_idx": 10,
"entity": "脑脑膜",
"start_idx": 8,
"type": "bod"
},
{
"end_idx": 22,
"entity": "手术治疗",
"start_idx": 19,
"type": "pro"
}
] |
手术时间过去认为在生后6～12个月为宜，近年来主张尽早手术，可在生后数天或数周内进行。
|
[
{
"end_idx": 1,
"entity": "手术",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 28,
"entity": "手术",
"start_idx": 27,
"type": "pro"
}
] |
手术目的是切除膨出的囊，还纳膨出的脑组织等内容物，封闭颅骨缺损巨大脑膜膨出或脑脑膜膨出，合并神经系统症状，智力低下及明显的脑积水者，无需手术治疗。
|
[
{
"end_idx": 1,
"entity": "手术",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 10,
"entity": "膨出的囊",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 10,
"entity": "囊",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 23,
"entity": "膨出的脑组织等内容物",
"start_idx": 14,
"type": "sym"
},
{
"end_idx": 19,
"entity": "脑组织",
"start_idx": 17,
"type": "bod"
},
{
"end_idx": 23,
"entity": "内容物",
"start_idx": 21,
"type": "bod"
},
{
"end_idx": 30,
"entity": "颅骨缺损",
"start_idx": 27,
"type": "dis"
},
{
"end_idx": 36,
"entity": "巨大脑膜膨出",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 34,
"entity": "脑膜",
"start_idx": 33,
"type": "bod"
},
{
"end_idx": 42,
"entity": "脑脑膜膨出",
"start_idx": 38,
"type": "sym"
},
{
"end_idx": 40,
"entity": "脑脑膜",
"start_idx": 38,
"type": "bod"
},
{
"end_idx": 49,
"entity": "神经系统",
"start_idx": 46,
"type": "bod"
},
{
"end_idx": 51,
"entity": "神经系统症状",
"start_idx": 46,
"type": "sym"
},
{
"end_idx": 56,
"entity": "智力低下",
"start_idx": 53,
"type": "sym"
},
{
"end_idx": 63,
"entity": "脑积水",
"start_idx": 61,
"type": "dis"
},
{
"end_idx": 71,
"entity": "手术治疗",
"start_idx": 68,
"type": "pro"
}
] |
脊髓脊膜膨出手术时，通常需要向上、向下扩大椎板切开范围，以探查脊髓与神经向脊膜囊内膨出的情况，有利于膨出的神经组织还纳于椎管内。
|
[
{
"end_idx": 7,
"entity": "脊髓脊膜膨出手术",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 26,
"entity": "向上、向下扩大椎板切开范围",
"start_idx": 14,
"type": "pro"
},
{
"end_idx": 32,
"entity": "脊髓",
"start_idx": 31,
"type": "bod"
},
{
"end_idx": 42,
"entity": "脊髓与神经向脊膜囊内膨出",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 35,
"entity": "神经",
"start_idx": 34,
"type": "bod"
},
{
"end_idx": 40,
"entity": "脊膜囊内",
"start_idx": 37,
"type": "bod"
},
{
"end_idx": 56,
"entity": "膨出的神经组织",
"start_idx": 50,
"type": "sym"
},
{
"end_idx": 56,
"entity": "神经组织",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 62,
"entity": "椎管内",
"start_idx": 60,
"type": "bod"
}
] |
【预防】（一）增补叶酸迄今为止，对NTDs的研究已经历了30多年之久，积累了丰富的临床医学、流行病学及遗传学等方面的资料，特别是对叶酸预防NTDs的研究取得了突破性进展。
|
[
{
"end_idx": 10,
"entity": "叶酸",
"start_idx": 9,
"type": "dru"
},
{
"end_idx": 20,
"entity": "NTDs",
"start_idx": 17,
"type": "dis"
},
{
"end_idx": 48,
"entity": "流行病",
"start_idx": 46,
"type": "dis"
},
{
"end_idx": 66,
"entity": "叶酸",
"start_idx": 65,
"type": "dru"
},
{
"end_idx": 72,
"entity": "预防NTDs",
"start_idx": 67,
"type": "pro"
}
] |
妇女怀孕早期体内叶酸缺乏是NTDs发生的主要原因；妇女如果能在怀孕前和怀孕早期及时增补叶酸，便可有效地预防大部分NTDs的发生。
|
[
{
"end_idx": 11,
"entity": "体内叶酸缺乏",
"start_idx": 6,
"type": "sym"
},
{
"end_idx": 9,
"entity": "体内叶酸",
"start_idx": 6,
"type": "bod"
},
{
"end_idx": 16,
"entity": "NTDs",
"start_idx": 13,
"type": "dis"
},
{
"end_idx": 44,
"entity": "增补叶酸",
"start_idx": 41,
"type": "pro"
},
{
"end_idx": 59,
"entity": "NTDs",
"start_idx": 56,
"type": "dis"
}
] |
近年来研究发现5，10-亚甲基四氢叶酸还原酶（MTHFR）是叶酸代谢过程中的一种关键酶，MTHFR的酶活性降低，可引起体内一种胚胎毒性物质同型半胱氨酸蓄积，可能是NTDs发生的危险因素，而妇女在怀孕前和怀孕早期服用叶酸可以弥补MTHFR酶活性的缺陷，使体内的5-甲基四氢叶酸（活性叶酸）增多，达到预防NTDs发生之目的。
|
[
{
"end_idx": 21,
"entity": "5，10-亚甲基四氢叶酸还原酶",
"start_idx": 7,
"type": "bod"
},
{
"end_idx": 27,
"entity": "MTHFR",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 31,
"entity": "叶酸",
"start_idx": 30,
"type": "bod"
},
{
"end_idx": 42,
"entity": "关键酶",
"start_idx": 40,
"type": "bod"
},
{
"end_idx": 48,
"entity": "MTHFR",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 50,
"entity": "酶",
"start_idx": 50,
"type": "bod"
},
{
"end_idx": 54,
"entity": "酶活性降低",
"start_idx": 50,
"type": "sym"
},
{
"end_idx": 60,
"entity": "体内",
"start_idx": 59,
"type": "bod"
},
{
"end_idx": 76,
"entity": "体内一种胚胎毒性物质同型半胱氨酸蓄积",
"start_idx": 59,
"type": "sym"
},
{
"end_idx": 74,
"entity": "胚胎毒性物质同型半胱氨酸",
"start_idx": 63,
"type": "bod"
},
{
"end_idx": 84,
"entity": "NTDs",
"start_idx": 81,
"type": "dis"
},
{
"end_idx": 108,
"entity": "服用叶酸",
"start_idx": 105,
"type": "pro"
},
{
"end_idx": 118,
"entity": "MTHFR酶",
"start_idx": 113,
"type": "bod"
},
{
"end_idx": 123,
"entity": "MTHFR酶活性的缺陷",
"start_idx": 113,
"type": "sym"
},
{
"end_idx": 127,
"entity": "体内",
"start_idx": 126,
"type": "bod"
},
{
"end_idx": 136,
"entity": "5-甲基四氢叶酸",
"start_idx": 129,
"type": "bod"
},
{
"end_idx": 141,
"entity": "活性叶酸",
"start_idx": 138,
"type": "bod"
},
{
"end_idx": 153,
"entity": "预防NTDs",
"start_idx": 148,
"type": "pro"
}
] |
我国卫生部决定从1995年10月起，在全国实施妇女增补叶酸预防NTDs工作。
|
[
{
"end_idx": 28,
"entity": "增补叶酸",
"start_idx": 25,
"type": "pro"
},
{
"end_idx": 34,
"entity": "预防NTDs",
"start_idx": 29,
"type": "pro"
}
] |
至于我国育龄妇女体内叶酸缺乏的主要原因是膳食中摄入叶酸量较少，富含叶酸的食物如绿色蔬菜和水果等摄入量不足，另外由于烹调习惯的关系，使得食物中的叶酸大部分受到破坏。
|
[
{
"end_idx": 13,
"entity": "体内叶酸缺乏",
"start_idx": 8,
"type": "sym"
},
{
"end_idx": 11,
"entity": "体内叶酸",
"start_idx": 8,
"type": "bod"
},
{
"end_idx": 29,
"entity": "摄入叶酸量较少",
"start_idx": 23,
"type": "sym"
},
{
"end_idx": 26,
"entity": "叶酸",
"start_idx": 25,
"type": "dru"
},
{
"end_idx": 37,
"entity": "富含叶酸的食物",
"start_idx": 31,
"type": "dru"
},
{
"end_idx": 51,
"entity": "富含叶酸的食物如绿色蔬菜和水果等摄入量不足",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 42,
"entity": "绿色蔬菜",
"start_idx": 39,
"type": "dru"
},
{
"end_idx": 45,
"entity": "水果",
"start_idx": 44,
"type": "dru"
},
{
"end_idx": 72,
"entity": "食物中的叶酸",
"start_idx": 67,
"type": "dru"
}
] |
需要指出的是，不能用普通的药用叶酸代替，因为那种片剂每片含叶酸5mg（5000μg），如果天天服用，由于剂量过大，可能反而影响胎儿发育。
|
[
{
"end_idx": 16,
"entity": "普通的药用叶酸",
"start_idx": 10,
"type": "dru"
},
{
"end_idx": 30,
"entity": "叶酸",
"start_idx": 29,
"type": "dru"
},
{
"end_idx": 64,
"entity": "胎儿",
"start_idx": 63,
"type": "bod"
}
] |
另一类为复合制剂，专为孕产妇设计，其中不仅包含叶酸，同时还含有多种维生素、矿物质和微量元素。
|
[
{
"end_idx": 7,
"entity": "复合制剂",
"start_idx": 4,
"type": "dru"
},
{
"end_idx": 24,
"entity": "叶酸",
"start_idx": 23,
"type": "dru"
},
{
"end_idx": 35,
"entity": "维生素",
"start_idx": 33,
"type": "dru"
},
{
"end_idx": 39,
"entity": "矿物质",
"start_idx": 37,
"type": "dru"
},
{
"end_idx": 44,
"entity": "微量元素",
"start_idx": 41,
"type": "dru"
}
] |
这类制剂能够补充孕、产妇的全面营养，除能预防NTDs外，还有利于胎儿和婴儿营养需求，同时也有利于母婴的均衡营养。
|
[
{
"end_idx": 16,
"entity": "补充孕、产妇的全面营养",
"start_idx": 6,
"type": "pro"
},
{
"end_idx": 25,
"entity": "预防NTDs",
"start_idx": 20,
"type": "pro"
},
{
"end_idx": 33,
"entity": "胎儿",
"start_idx": 32,
"type": "bod"
}
] |
（二）遗传咨询NTDs的遗传咨询主要包括婚前、孕前及孕期咨询，了解夫妇双方的家族史、孕妇既往的妊娠史、此次妊娠的饮食、服药情况和接触放射线、有害化学物质以及致病微生物等情况，对孕妇进行卫生保健以减少NTDs患儿的发生。
|
[
{
"end_idx": 10,
"entity": "NTDs",
"start_idx": 7,
"type": "dis"
},
{
"end_idx": 82,
"entity": "致病微生物",
"start_idx": 78,
"type": "mic"
},
{
"end_idx": 95,
"entity": "对孕妇进行卫生保健",
"start_idx": 87,
"type": "pro"
},
{
"end_idx": 102,
"entity": "NTDs",
"start_idx": 99,
"type": "dis"
}
] |
（三）产前检查NTDs的产前检查内容主要包括羊水、母亲血清甲胎蛋白（AFP）检测及B超检查等。
|
[
{
"end_idx": 6,
"entity": "产前检查",
"start_idx": 3,
"type": "pro"
},
{
"end_idx": 15,
"entity": "NTDs的产前检查",
"start_idx": 7,
"type": "pro"
},
{
"end_idx": 39,
"entity": "羊水、母亲血清甲胎蛋白（AFP）检测",
"start_idx": 22,
"type": "pro"
},
{
"end_idx": 44,
"entity": "B超检查",
"start_idx": 41,
"type": "pro"
}
] |
B超可扫描胎儿的头颅形状及大小或脊柱部位的结构，如无脑畸形胎儿表现为胎头圆形光环消失，脑膜膨出胎儿在胎头的颅骨壁缺损处可见一囊性肿物与其连接，脊柱裂胎儿可发现脊柱裂口，脊膜膨出胎儿可在脊椎部发现边界规则而清晰的囊性膨出物等。
|
[
{
"end_idx": 1,
"entity": "B超",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 14,
"entity": "胎儿的头颅形状及大小",
"start_idx": 5,
"type": "ite"
},
{
"end_idx": 22,
"entity": "脊柱部位的结构",
"start_idx": 16,
"type": "ite"
},
{
"end_idx": 28,
"entity": "无脑畸形",
"start_idx": 25,
"type": "dis"
},
{
"end_idx": 30,
"entity": "胎儿",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 41,
"entity": "胎头圆形光环消失",
"start_idx": 34,
"type": "sym"
},
{
"end_idx": 35,
"entity": "胎头",
"start_idx": 34,
"type": "bod"
},
{
"end_idx": 46,
"entity": "脑膜膨出",
"start_idx": 43,
"type": "sym"
},
{
"end_idx": 44,
"entity": "脑膜",
"start_idx": 43,
"type": "bod"
},
{
"end_idx": 48,
"entity": "胎儿",
"start_idx": 47,
"type": "bod"
},
{
"end_idx": 57,
"entity": "胎头的颅骨壁缺损",
"start_idx": 50,
"type": "dis"
},
{
"end_idx": 65,
"entity": "囊性肿物",
"start_idx": 62,
"type": "sym"
},
{
"end_idx": 73,
"entity": "脊柱裂",
"start_idx": 71,
"type": "dis"
},
{
"end_idx": 75,
"entity": "胎儿",
"start_idx": 74,
"type": "bod"
},
{
"end_idx": 82,
"entity": "脊柱裂口",
"start_idx": 79,
"type": "sym"
},
{
"end_idx": 80,
"entity": "脊柱",
"start_idx": 79,
"type": "bod"
},
{
"end_idx": 87,
"entity": "脊膜膨出",
"start_idx": 84,
"type": "sym"
},
{
"end_idx": 85,
"entity": "脊膜",
"start_idx": 84,
"type": "bod"
},
{
"end_idx": 89,
"entity": "胎儿",
"start_idx": 88,
"type": "bod"
},
{
"end_idx": 94,
"entity": "脊椎部",
"start_idx": 92,
"type": "bod"
},
{
"end_idx": 109,
"entity": "脊椎部发现边界规则而清晰的囊性膨出物",
"start_idx": 92,
"type": "sym"
},
{
"end_idx": 109,
"entity": "囊性膨出物",
"start_idx": 105,
"type": "bod"
}
] |
一旦产前检查发现胎儿NTDs，应立即终止妊娠，以减少NTDs患儿出生。
|
[
{
"end_idx": 5,
"entity": "产前检查",
"start_idx": 2,
"type": "pro"
},
{
"end_idx": 13,
"entity": "胎儿NTDs",
"start_idx": 8,
"type": "dis"
},
{
"end_idx": 21,
"entity": "终止妊娠",
"start_idx": 18,
"type": "pro"
},
{
"end_idx": 29,
"entity": "NTDs",
"start_idx": 26,
"type": "dis"
}
] |
【预后】无脑畸形患儿预后极差，绝大多数于出生时即为死胎，仅25%的患儿为活产，但极少能存活一周，多数于生后数小时死亡。
|
[
{
"end_idx": 7,
"entity": "无脑畸形",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 26,
"entity": "出生时即为死胎",
"start_idx": 20,
"type": "sym"
}
] |
单纯的脑膜膨出，经过手术治疗后，一般效果较好，可减少或缓解神经系统的损害症状，降低死亡率。
|
[
{
"end_idx": 6,
"entity": "脑膜膨出",
"start_idx": 3,
"type": "sym"
},
{
"end_idx": 4,
"entity": "脑膜",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 13,
"entity": "手术治疗",
"start_idx": 10,
"type": "pro"
},
{
"end_idx": 35,
"entity": "神经系统的损害",
"start_idx": 29,
"type": "dis"
}
] |
单纯的脊膜膨出，手术治疗疗效好，可以达到临床治愈。
|
[
{
"end_idx": 6,
"entity": "单纯的脊膜膨出",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 4,
"entity": "脊膜",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 11,
"entity": "手术治疗",
"start_idx": 8,
"type": "pro"
}
] |
三、新生儿出血症新生儿出血症（hemorrhagicdiseaseofthenewborn，HDN）为维生素K依赖的凝血因子Ⅱ、Ⅶ、Ⅸ、Ⅹ减少而引起的出血，又称新生儿自然出血症、维生素K依赖性出血症、新生儿低凝血酶原血症。
|
[
{
"end_idx": 7,
"entity": "新生儿出血症",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 13,
"entity": "新生儿出血症",
"start_idx": 8,
"type": "dis"
},
{
"end_idx": 44,
"entity": "hemorrhagicdiseaseofthenewborn",
"start_idx": 15,
"type": "dis"
},
{
"end_idx": 48,
"entity": "HDN",
"start_idx": 46,
"type": "dis"
},
{
"end_idx": 68,
"entity": "维生素K依赖的凝血因子Ⅱ、Ⅶ、Ⅸ、Ⅹ",
"start_idx": 51,
"type": "bod"
},
{
"end_idx": 70,
"entity": "维生素K依赖的凝血因子Ⅱ、Ⅶ、Ⅸ、Ⅹ减少",
"start_idx": 51,
"type": "sym"
},
{
"end_idx": 76,
"entity": "出血",
"start_idx": 75,
"type": "sym"
},
{
"end_idx": 76,
"entity": "血",
"start_idx": 76,
"type": "bod"
},
{
"end_idx": 87,
"entity": "新生儿自然出血症",
"start_idx": 80,
"type": "dis"
},
{
"end_idx": 98,
"entity": "维生素K依赖性出血症",
"start_idx": 89,
"type": "dis"
},
{
"end_idx": 109,
"entity": "新生儿低凝血酶原血症",
"start_idx": 100,
"type": "dis"
}
] |
【病因与发病机制】病因为维生素K缺乏。
|
[
{
"end_idx": 15,
"entity": "维生素K",
"start_idx": 12,
"type": "bod"
},
{
"end_idx": 17,
"entity": "维生素K缺乏",
"start_idx": 12,
"type": "sym"
}
] |
维生素K缺乏的原因有：①摄入不足：孕母维生素K只有10%可通过胎盘达到胎儿，胎儿维生素K贮量少，母乳中维生素K的含量（15μg/L）仅为牛奶（60μg/L）的1/4，初生母乳量又不足，母乳喂养者发病率较牛奶喂养者高15～20倍。
|
[
{
"end_idx": 3,
"entity": "维生素K",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 5,
"entity": "维生素K缺乏",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 22,
"entity": "维生素K",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 32,
"entity": "胎盘",
"start_idx": 31,
"type": "bod"
},
{
"end_idx": 36,
"entity": "胎儿",
"start_idx": 35,
"type": "bod"
},
{
"end_idx": 46,
"entity": "胎儿维生素K贮量少",
"start_idx": 38,
"type": "sym"
},
{
"end_idx": 43,
"entity": "胎儿维生素K",
"start_idx": 38,
"type": "bod"
},
{
"end_idx": 57,
"entity": "母乳中维生素K的含量",
"start_idx": 48,
"type": "ite"
},
{
"end_idx": 69,
"entity": "牛奶",
"start_idx": 68,
"type": "dru"
},
{
"end_idx": 90,
"entity": "初生母乳量又不足",
"start_idx": 83,
"type": "sym"
},
{
"end_idx": 86,
"entity": "母乳",
"start_idx": 85,
"type": "bod"
},
{
"end_idx": 93,
"entity": "母乳",
"start_idx": 92,
"type": "bod"
},
{
"end_idx": 102,
"entity": "牛奶",
"start_idx": 101,
"type": "dru"
}
] |
②合成不足：维生素K主要由正常肠道菌群合成，初生新生儿肠道菌群尚未建立，影响维生素K的合成。
|
[
{
"end_idx": 9,
"entity": "维生素K",
"start_idx": 6,
"type": "bod"
},
{
"end_idx": 18,
"entity": "正常肠道菌群",
"start_idx": 13,
"type": "mic"
},
{
"end_idx": 30,
"entity": "肠道菌群",
"start_idx": 27,
"type": "mic"
},
{
"end_idx": 41,
"entity": "维生素K",
"start_idx": 38,
"type": "bod"
}
] |
抗生素抑制肠道菌群，使维生素K合成不足。
|
[
{
"end_idx": 2,
"entity": "抗生素",
"start_idx": 0,
"type": "dru"
},
{
"end_idx": 8,
"entity": "肠道菌群",
"start_idx": 5,
"type": "mic"
},
{
"end_idx": 14,
"entity": "维生素K",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 18,
"entity": "维生素K合成不足",
"start_idx": 11,
"type": "sym"
}
] |
凝血因子Ⅱ、Ⅻ、Ⅸ、Ⅹ的谷氨酸残基需要羧化为γ-羧基谷氨酸，增加钙结合位点，才具有凝血活性。
|
[
{
"end_idx": 16,
"entity": "凝血因子Ⅱ、Ⅻ、Ⅸ、Ⅹ的谷氨酸残基",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 28,
"entity": "γ-羧基谷氨酸",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 36,
"entity": "钙结合位点",
"start_idx": 32,
"type": "bod"
},
{
"end_idx": 42,
"entity": "血",
"start_idx": 42,
"type": "bod"
}
] |
这一羧化过程需要维生素K的参与，如发生维生素K缺乏早发性出血比较少见，生后24小时内发病，与孕母用药有关，如抗凝药（双香豆素）、抗癫痫药（苯妥英钠、苯巴比妥）及抗结核药（利福平、异烟肼）等，这些药物可干扰胎儿维生素K的功能。
|
[
{
"end_idx": 11,
"entity": "维生素K",
"start_idx": 8,
"type": "bod"
},
{
"end_idx": 22,
"entity": "维生素K",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 24,
"entity": "维生素K缺乏",
"start_idx": 19,
"type": "sym"
},
{
"end_idx": 29,
"entity": "早发性出血",
"start_idx": 25,
"type": "sym"
},
{
"end_idx": 29,
"entity": "血",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 56,
"entity": "抗凝药",
"start_idx": 54,
"type": "dru"
},
{
"end_idx": 61,
"entity": "双香豆素",
"start_idx": 58,
"type": "dru"
},
{
"end_idx": 67,
"entity": "抗癫痫药",
"start_idx": 64,
"type": "dru"
},
{
"end_idx": 72,
"entity": "苯妥英钠",
"start_idx": 69,
"type": "dru"
},
{
"end_idx": 77,
"entity": "苯巴比妥",
"start_idx": 74,
"type": "dru"
},
{
"end_idx": 83,
"entity": "抗结核药",
"start_idx": 80,
"type": "dru"
},
{
"end_idx": 87,
"entity": "利福平",
"start_idx": 85,
"type": "dru"
},
{
"end_idx": 91,
"entity": "异烟肼",
"start_idx": 89,
"type": "dru"
},
{
"end_idx": 107,
"entity": "胎儿维生素K",
"start_idx": 102,
"type": "bod"
}
] |
出血程度轻重不一，出血部位除皮肤外，也可有颅内、胸腔或腹腔出血。
|
[
{
"end_idx": 1,
"entity": "出血",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 1,
"entity": "血",
"start_idx": 1,
"type": "bod"
},
{
"end_idx": 10,
"entity": "出血",
"start_idx": 9,
"type": "sym"
},
{
"end_idx": 10,
"entity": "血",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 15,
"entity": "皮肤",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 22,
"entity": "颅内",
"start_idx": 21,
"type": "bod"
},
{
"end_idx": 25,
"entity": "胸腔",
"start_idx": 24,
"type": "bod"
},
{
"end_idx": 30,
"entity": "腹腔出血",
"start_idx": 27,
"type": "dis"
}
] |
2.典型的新生儿出血症近年已较少见，生后2～7天发病，早产儿可迟至2周。
|
[
{
"end_idx": 10,
"entity": "新生儿出血症",
"start_idx": 5,
"type": "dis"
},
{
"end_idx": 29,
"entity": "早产儿",
"start_idx": 27,
"type": "dis"
}
] |
多见于母乳喂养儿，出血部位以胃肠道（便血和呕血）最常见，其他有脐带残端、皮肤、帽状腱膜下、颅内、注射部位或手术伤口的渗血等，早产儿可发生颅内出血。
|
[
{
"end_idx": 4,
"entity": "母乳",
"start_idx": 3,
"type": "bod"
},
{
"end_idx": 10,
"entity": "出血",
"start_idx": 9,
"type": "sym"
},
{
"end_idx": 10,
"entity": "血",
"start_idx": 10,
"type": "bod"
},
{
"end_idx": 16,
"entity": "胃肠道",
"start_idx": 14,
"type": "bod"
},
{
"end_idx": 19,
"entity": "便血",
"start_idx": 18,
"type": "sym"
},
{
"end_idx": 18,
"entity": "便",
"start_idx": 18,
"type": "bod"
},
{
"end_idx": 19,
"entity": "血",
"start_idx": 19,
"type": "bod"
},
{
"end_idx": 22,
"entity": "呕血",
"start_idx": 21,
"type": "sym"
},
{
"end_idx": 22,
"entity": "血",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 34,
"entity": "脐带残端",
"start_idx": 31,
"type": "bod"
},
{
"end_idx": 59,
"entity": "脐带残端、皮肤、帽状腱膜下、颅内、注射部位或手术伤口的渗血",
"start_idx": 31,
"type": "sym"
},
{
"end_idx": 37,
"entity": "皮肤",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 43,
"entity": "帽状腱膜下",
"start_idx": 39,
"type": "bod"
},
{
"end_idx": 46,
"entity": "颅内",
"start_idx": 45,
"type": "bod"
},
{
"end_idx": 51,
"entity": "注射部位",
"start_idx": 48,
"type": "bod"
},
{
"end_idx": 56,
"entity": "手术伤口",
"start_idx": 53,
"type": "bod"
},
{
"end_idx": 59,
"entity": "血",
"start_idx": 59,
"type": "bod"
},
{
"end_idx": 64,
"entity": "早产儿",
"start_idx": 62,
"type": "dis"
},
{
"end_idx": 71,
"entity": "颅内出血",
"start_idx": 68,
"type": "dis"
}
] |
出血程度轻重不等，但有些轻度出血可为严重致命出血（如颅内出血）的前驱症状，少数病例可发生消化道或脐端大出血导致休克。
|
[
{
"end_idx": 1,
"entity": "出血",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 1,
"entity": "血",
"start_idx": 1,
"type": "bod"
},
{
"end_idx": 15,
"entity": "轻度出血",
"start_idx": 12,
"type": "sym"
},
{
"end_idx": 15,
"entity": "血",
"start_idx": 15,
"type": "bod"
},
{
"end_idx": 23,
"entity": "严重致命出血",
"start_idx": 18,
"type": "sym"
},
{
"end_idx": 23,
"entity": "血",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 29,
"entity": "颅内出血",
"start_idx": 26,
"type": "dis"
},
{
"end_idx": 46,
"entity": "消化道",
"start_idx": 44,
"type": "bod"
},
{
"end_idx": 52,
"entity": "消化道或脐端大出血",
"start_idx": 44,
"type": "sym"
},
{
"end_idx": 49,
"entity": "脐端",
"start_idx": 48,
"type": "bod"
},
{
"end_idx": 52,
"entity": "血",
"start_idx": 52,
"type": "bod"
},
{
"end_idx": 56,
"entity": "休克",
"start_idx": 55,
"type": "dis"
}
] |
3.晚发性维生素K缺乏出血生后2周～3个月发病，发生率约为1/1万～10/1万活产儿。
|
[
{
"end_idx": 10,
"entity": "晚发性维生素K缺乏",
"start_idx": 2,
"type": "sym"
},
{
"end_idx": 8,
"entity": "维生素K",
"start_idx": 5,
"type": "bod"
},
{
"end_idx": 12,
"entity": "出血",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 12,
"entity": "血",
"start_idx": 12,
"type": "bod"
}
] |
此外，与肝胆疾病、腹泻、使用广谱抗生素（抑制肠道菌群）、长期禁食或静脉营养时未补充维生素K有关。
|
[
{
"end_idx": 7,
"entity": "肝胆疾病",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 10,
"entity": "腹泻",
"start_idx": 9,
"type": "sym"
},
{
"end_idx": 9,
"entity": "腹",
"start_idx": 9,
"type": "bod"
},
{
"end_idx": 18,
"entity": "广谱抗生素",
"start_idx": 14,
"type": "dru"
},
{
"end_idx": 25,
"entity": "抑制肠道菌群",
"start_idx": 20,
"type": "pro"
},
{
"end_idx": 31,
"entity": "长期禁食",
"start_idx": 28,
"type": "pro"
},
{
"end_idx": 36,
"entity": "静脉营养",
"start_idx": 33,
"type": "pro"
},
{
"end_idx": 44,
"entity": "维生素K",
"start_idx": 41,
"type": "dru"
}
] |
出血部位主要为颅内出血，约占60%～80%。
|
[
{
"end_idx": 1,
"entity": "出血",
"start_idx": 0,
"type": "sym"
},
{
"end_idx": 1,
"entity": "血",
"start_idx": 1,
"type": "bod"
},
{
"end_idx": 10,
"entity": "颅内出血",
"start_idx": 7,
"type": "dis"
}
] |
患儿出现惊厥、嗜睡、昏迷、前囟隆起脑疝，瞳孔固定、不等大，病死率高，后遗症多。
|
[
{
"end_idx": 5,
"entity": "惊厥",
"start_idx": 4,
"type": "dis"
},
{
"end_idx": 8,
"entity": "嗜睡",
"start_idx": 7,
"type": "sym"
},
{
"end_idx": 11,
"entity": "昏迷",
"start_idx": 10,
"type": "sym"
},
{
"end_idx": 14,
"entity": "前囟",
"start_idx": 13,
"type": "bod"
},
{
"end_idx": 16,
"entity": "前囟隆起",
"start_idx": 13,
"type": "sym"
},
{
"end_idx": 18,
"entity": "脑疝",
"start_idx": 17,
"type": "dis"
},
{
"end_idx": 27,
"entity": "瞳孔固定、不等大",
"start_idx": 20,
"type": "sym"
},
{
"end_idx": 21,
"entity": "瞳孔",
"start_idx": 20,
"type": "bod"
}
] |
【诊断与鉴别诊断】健康新生儿生后2～5天发生自然出血现象，血小板和出血时间正常，可考虑本病，若凝血酶原时间和部分凝血活酶时间延长、凝血时间正常或轻度延长，但出血时间正常，则可确诊。
|
[
{
"end_idx": 25,
"entity": "自然出血",
"start_idx": 22,
"type": "sym"
},
{
"end_idx": 25,
"entity": "血",
"start_idx": 25,
"type": "bod"
},
{
"end_idx": 31,
"entity": "血小板",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 34,
"entity": "出血",
"start_idx": 33,
"type": "sym"
},
{
"end_idx": 34,
"entity": "血",
"start_idx": 34,
"type": "bod"
},
{
"end_idx": 50,
"entity": "凝血酶原",
"start_idx": 47,
"type": "bod"
},
{
"end_idx": 63,
"entity": "凝血酶原时间和部分凝血活酶时间延长",
"start_idx": 47,
"type": "sym"
},
{
"end_idx": 59,
"entity": "凝血活酶",
"start_idx": 56,
"type": "bod"
},
{
"end_idx": 75,
"entity": "凝血时间正常或轻度延长",
"start_idx": 65,
"type": "sym"
},
{
"end_idx": 66,
"entity": "血",
"start_idx": 66,
"type": "bod"
},
{
"end_idx": 79,
"entity": "出血",
"start_idx": 78,
"type": "sym"
},
{
"end_idx": 79,
"entity": "血",
"start_idx": 79,
"type": "bod"
}
] |
注射维生素K1</sub>或输新鲜血浆等治疗有效，可为辅助诊断。
|
[
{
"end_idx": 1,
"entity": "注射",
"start_idx": 0,
"type": "pro"
},
{
"end_idx": 6,
"entity": "维生素K1",
"start_idx": 2,
"type": "dru"
},
{
"end_idx": 14,
"entity": "输",
"start_idx": 14,
"type": "pro"
},
{
"end_idx": 18,
"entity": "新鲜血浆",
"start_idx": 15,
"type": "dru"
},
{
"end_idx": 30,
"entity": "辅助诊断",
"start_idx": 27,
"type": "pro"
}
] |
1.胃肠道出血应与咽下综合征、应激性溃疡、消化道畸形和感染引起的消化道出血鉴别，这些患儿无凝血障碍。
|
[
{
"end_idx": 6,
"entity": "胃肠道出血",
"start_idx": 2,
"type": "dis"
},
{
"end_idx": 13,
"entity": "咽下综合征",
"start_idx": 9,
"type": "dis"
},
{
"end_idx": 19,
"entity": "应激性溃疡",
"start_idx": 15,
"type": "dis"
},
{
"end_idx": 25,
"entity": "消化道畸形",
"start_idx": 21,
"type": "dis"
},
{
"end_idx": 28,
"entity": "感染",
"start_idx": 27,
"type": "dis"
},
{
"end_idx": 36,
"entity": "消化道出血",
"start_idx": 32,
"type": "dis"
},
{
"end_idx": 48,
"entity": "凝血障碍",
"start_idx": 45,
"type": "sym"
},
{
"end_idx": 46,
"entity": "血",
"start_idx": 46,
"type": "bod"
}
] |
咽下综合征是新生儿出生时咽下母亲产道的血液或带血的羊水等，于生后不久即发生呕吐，呕吐物呈棕色，也可有血便，但血量均微，洗胃后可止吐。
|
[
{
"end_idx": 4,
"entity": "咽下综合征",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 20,
"entity": "产道的血液",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 26,
"entity": "带血的羊水",
"start_idx": 22,
"type": "bod"
},
{
"end_idx": 38,
"entity": "呕吐",
"start_idx": 37,
"type": "sym"
},
{
"end_idx": 45,
"entity": "呕吐物呈棕色",
"start_idx": 40,
"type": "sym"
},
{
"end_idx": 42,
"entity": "呕吐物",
"start_idx": 40,
"type": "bod"
},
{
"end_idx": 51,
"entity": "血便",
"start_idx": 50,
"type": "sym"
},
{
"end_idx": 50,
"entity": "血",
"start_idx": 50,
"type": "bod"
},
{
"end_idx": 51,
"entity": "便",
"start_idx": 51,
"type": "bod"
},
{
"end_idx": 54,
"entity": "血",
"start_idx": 54,
"type": "bod"
},
{
"end_idx": 57,
"entity": "血量均微",
"start_idx": 54,
"type": "sym"
},
{
"end_idx": 60,
"entity": "洗胃",
"start_idx": 59,
"type": "pro"
},
{
"end_idx": 64,
"entity": "止吐",
"start_idx": 63,
"type": "pro"
}
] |
另外，碱变性试验（Apt试验）有助于鉴别母血及儿血，取1份呕吐物加水5份，混匀后离心，取上清液5份加1%氢氧化钠（0.25N）1份，混匀后静置2分钟，上清液仍为粉红色，说明血中含较多胎儿血红蛋白（HbF），出血来自新生儿；如上清液转变为棕黄色，则是吞入的母血。
|
[
{
"end_idx": 7,
"entity": "碱变性试验",
"start_idx": 3,
"type": "pro"
},
{
"end_idx": 13,
"entity": "Apt试验",
"start_idx": 9,
"type": "pro"
},
{
"end_idx": 21,
"entity": "血",
"start_idx": 21,
"type": "bod"
},
{
"end_idx": 24,
"entity": "血",
"start_idx": 24,
"type": "bod"
},
{
"end_idx": 31,
"entity": "呕吐物",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 55,
"entity": "氢氧化钠",
"start_idx": 52,
"type": "dru"
},
{
"end_idx": 87,
"entity": "血中",
"start_idx": 86,
"type": "bod"
},
{
"end_idx": 96,
"entity": "胎儿血红蛋白",
"start_idx": 91,
"type": "bod"
},
{
"end_idx": 100,
"entity": "HbF",
"start_idx": 98,
"type": "bod"
},
{
"end_idx": 104,
"entity": "出血",
"start_idx": 103,
"type": "sym"
},
{
"end_idx": 104,
"entity": "血",
"start_idx": 104,
"type": "bod"
},
{
"end_idx": 128,
"entity": "血",
"start_idx": 128,
"type": "bod"
}
] |
因为新生儿Hb的80%～90%为FHb，成人的Hb97%为成人血红蛋白（HbA），HbF具有抗碱作用。
|
[
{
"end_idx": 6,
"entity": "Hb",
"start_idx": 5,
"type": "bod"
},
{
"end_idx": 18,
"entity": "FHb",
"start_idx": 16,
"type": "bod"
},
{
"end_idx": 24,
"entity": "Hb",
"start_idx": 23,
"type": "bod"
},
{
"end_idx": 34,
"entity": "成人血红蛋白",
"start_idx": 29,
"type": "bod"
},
{
"end_idx": 38,
"entity": "HbA",
"start_idx": 36,
"type": "bod"
},
{
"end_idx": 43,
"entity": "HbF",
"start_idx": 41,
"type": "bod"
}
] |
2.产伤性出血多发生于分娩的先露部位，生后即出现。
|
[
{
"end_idx": 6,
"entity": "产伤性出血",
"start_idx": 2,
"type": "dis"
}
] |
3.其他如脐部出血应与脐带接扎不紧、脐部感染或肉芽肿等所致出血鉴别。
|
[
{
"end_idx": 8,
"entity": "脐部出血",
"start_idx": 5,
"type": "dis"
},
{
"end_idx": 12,
"entity": "脐带",
"start_idx": 11,
"type": "bod"
},
{
"end_idx": 16,
"entity": "脐带接扎不紧",
"start_idx": 11,
"type": "sym"
},
{
"end_idx": 21,
"entity": "脐部感染",
"start_idx": 18,
"type": "dis"
},
{
"end_idx": 25,
"entity": "肉芽肿",
"start_idx": 23,
"type": "dis"
},
{
"end_idx": 30,
"entity": "出血",
"start_idx": 29,
"type": "sym"
},
{
"end_idx": 30,
"entity": "血",
"start_idx": 30,
"type": "bod"
}
] |
遗传性毛细血管扩张症可在新生儿早期发生消化道出血。
|
[
{
"end_idx": 9,
"entity": "遗传性毛细血管扩张症",
"start_idx": 0,
"type": "dis"
},
{
"end_idx": 23,
"entity": "消化道出血",
"start_idx": 19,
"type": "dis"
}
] |
【预防】出生后常规给维生素K1</sub>1mg肌注1次，可有效防止本病的发生。
|
[
{
"end_idx": 14,
"entity": "维生素K1",
"start_idx": 10,
"type": "dru"
},
{
"end_idx": 25,
"entity": "肌注",
"start_idx": 24,
"type": "pro"
}
] |
母乳喂养者，哺乳母亲应多进食含维生素K丰富的食物，在生后2～3周再给新生儿注射维生素K1</sub>5mg，以预防晚发性出血。
|
[
{
"end_idx": 1,
"entity": "母乳",
"start_idx": 0,
"type": "bod"
},
{
"end_idx": 23,
"entity": "多进食含维生素K丰富的食物",
"start_idx": 11,
"type": "pro"
},
{
"end_idx": 38,
"entity": "注射",
"start_idx": 37,
"type": "pro"
},
{
"end_idx": 43,
"entity": "维生素K1",
"start_idx": 39,
"type": "dru"
},
{
"end_idx": 61,
"entity": "预防晚发性出血",
"start_idx": 55,
"type": "pro"
}
] |
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