在大学医院的Patau和爱德华兹综合征:超越息治疗
Ligia Marçola1, Ivete Zoboli1, Rita Tiziana Verardo Polastrini1
1Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo, SP, Brazil.
概括
患有Patau (T13) 和爱德华兹综合征 (T18) 的新生儿面临高死亡率和长时间的重症监护室住院,通常具有先天性心脏缺陷. 息治疗对于改善生活质量至关重要.
科学领域:
- 新生儿医学 新生儿医学
- 临床遗传学 临床遗传学
- 儿童心脏病学 儿童心脏病学
背景情况:
- 帕图综合征 (T13) 和爱德华兹综合征 (T18) 是一种严重的染色体异常.
- 先天性心脏病 (CHD) 是这些综合征中常见的并发症.
- 新生儿重症监护室 (ICU) 的管理对这些婴儿来说带来了独特的挑战.
研究的目的:
- 描述T13和T18的新生儿和被录入四级护理重症监护室的CHD人口.
- 描述这些婴儿的医疗干预,息治疗和结果.
主要方法:
- 进行了一系列描述性的案例.
- 分析了2014年1月至2018年12月的患者记录.
- 包括被证实T13或T18核型婴儿进入ICU的婴儿.
主要成果:
- 确定了33名婴儿:有27名T18 (82%) 和6名T13 (18%) 的婴儿.
- 观察到高的医院内死亡率:T13的83%和T18的59%.
- 长时间的ICU住院均值 (29天为T18,25天为T13),其中54%接受了息治疗.
结论:
- 患有T13和T18的婴儿表现出显著的发病率,死亡率和延长ICU护理需求.
- 需要进行多中心研究,以制定治疗比例的协议,并提高患者/家庭的生活质量.
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