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新生儿精准医学:肺部的未来展望

Precision Medicine in Neonates: Future Perspectives for the Lung.

作者信息

Onland Wes, Hutten Jeroen, Miedema Martijn, Bos Lieuwe D, Brinkman Paul, Maitland-van der Zee Anke H, van Kaam Anton H

机构信息

Department of Neonatology, Amsterdam University Medical Centers, VU University Medical Center, Emma Children's Hospital, University of Amsterdam, Amsterdam, Netherlands.

Department of Respiratory Medicine, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.

出版信息

Front Pediatr. 2020 Oct 30;8:586061. doi: 10.3389/fped.2020.586061. eCollection 2020.

Abstract

Bronchopulmonary dysplasia (BPD) is the most common complication of pre-term birth with long lasting sequelae. Since its first description more than 50 years ago, many large randomized controlled trials have been conducted, aiming to improve evidence-based knowledge on the optimal strategies to prevent and treat BPD. However, most of these intervention studies have been performed on a population level without regard for the variation in clinical and biological diversity (e.g., gestational age, ethnicity, gender, or disease progression) between patients that is driven by the complex interaction of genetic pre-disposition and environmental exposures. Nevertheless, clinicians provide daily care such as lung protective interventions on an individual basis every day despite the fact that research supporting individualized or precision medicine for monitoring or treating pre-term lungs is immature. This narrative review summarizes four potential developments in pulmonary research that might facilitate the process of individualizing lung protective interventions to prevent development of BPD. Electrical impedance tomography and electromyography of the diaphragm are bedside monitoring tools to assess regional changes in lung volume and ventilation and spontaneous breathing effort, respectively. These non-invasive tools allow a more individualized optimization of invasive and non-invasive respiratory support. Investigation of the genomic variation in caffeine metabolism in pre-term infants can be used to optimize and individualize caffeine dosing regimens. Finally, volatile organic compound analysis in exhaled breath might accurately predict BPD at an early stage of the disease, enabling clinicians to initiate preventive strategies for BPD on an individual basis. Before these suggested diagnostic or monitoring tools can be implemented in daily practice and improve individualized patient care, future research should address and overcome their technical difficulties, perform extensive external validation and show their additional value in preventing BPD.

摘要

支气管肺发育不良(BPD)是早产最常见的并发症,具有长期后遗症。自50多年前首次被描述以来,已经开展了许多大型随机对照试验,旨在提高关于预防和治疗BPD的最佳策略的循证知识。然而,这些干预研究大多是在人群层面进行的,没有考虑到由遗传易感性和环境暴露的复杂相互作用所驱动的患者之间临床和生物学多样性(如胎龄、种族、性别或疾病进展)的差异。尽管支持针对早产肺部进行个体化或精准医学监测或治疗的研究尚不成熟,但临床医生每天仍在为个体患者提供诸如肺保护性干预等日常护理。本叙述性综述总结了肺部研究中的四个潜在进展,这些进展可能有助于将肺保护性干预个体化以预防BPD的发生。电阻抗断层成像和膈肌肌电图分别是用于评估肺容积区域变化和通气以及自主呼吸努力的床旁监测工具。这些非侵入性工具可使有创和无创呼吸支持得到更个体化的优化。对早产儿咖啡因代谢基因组变异的研究可用于优化和个体化咖啡因给药方案。最后,呼出气中挥发性有机化合物分析可能在疾病早期准确预测BPD,使临床医生能够为个体患者启动BPD预防策略。在这些建议的诊断或监测工具能够在日常实践中实施并改善个体化患者护理之前,未来的研究应解决并克服其技术难题,进行广泛的外部验证,并证明其在预防BPD方面的附加价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c6e/7673376/0e7efb5552e5/fped-08-586061-g0001.jpg

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