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活产婴儿罗宾序列的全球出生患病率:系统性审查和元分析
Marie Wright1,2,3, Mario Cortina-Borja3, Rachel Knowles3
1Division of Respiratory Medicine, BC Children's Hospital, Vancouver, BC, Canada marie.wright@cw.bc.ca.
概括
罗宾序列 (RS) 影响全球每10万例出生中有9.5例. 患病率可能因地区和数据来源而异,这突显了在这种先天性疾病的流行病学研究中需要标准化定义的需要.
科学领域:
- 医学遗传学 医学遗传学
- 流行病学 流行病学
- 公共卫生 公共卫生
背景情况:
- 罗宾序列 (RS) 是一种先天性疾病,其特征是下发育不良和光亡.
- 在RS中未经治疗的气道阻塞会导致严重的长期健康问题.
研究的目的:
- 为了确定罗宾序列的全球出生率.
- 根据地理位置,种族和数据来源,探索RS流行率的变化.
主要方法:
- 对罗宾序列流行病学研究进行了系统的文献搜索.
- 对34项符合条件的研究数据进行了元分析,其中包括2722例RS病例,使用随机效应模型进行了元分析.
- 分析考虑了地理分布,研究数据源 (注册与非注册) 和种族.
主要成果:
- 罗宾序列的综合全球出生患病率估计为每10万活产9.5 (95% CI 7.1-12.1),具有显著的统计异质性.
- 患病率估计显示,欧洲人口中患病率较高的趋势,在基于登记册的研究中患病率较低.
- 报告指出,缺乏标准化的病例定义,对种族的报道有限.
结论:
- 罗宾序列发生在全球范围内,但流行率估计是异质的.
- 为了了解地理差异,需要对不同非欧洲人口进行进一步的研究,并对种族进行一致的报告.
- 标准化诊断标准对于减少未来RS患病率研究中的异质性至关重要.
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