Research: Exploring new perspectives on congenital diaphragmatic hernia: A comprehensive review

Biochim Biophys Acta Mol Basis Dis

. 2024 Feb 28;1870(4):167105.

 doi: 10.1016/j.bbadis.2024.167105. Online ahead of print.

Exploring new perspectives on congenital diaphragmatic hernia: A comprehensive review

Weronika Renik-Jankowska 1Angelika Buczyńska 2Iwona Sidorkiewicz 3Przemysław Kosiński 4Monika Zbucka-Krętowska 5

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Congenital diaphragmatic hernia (CDH) represents a developmental anomaly that profoundly impacts the embryonic development of both the respiratory and cardiovascular systems. Understanding the influences of developmental defects, their origins, and clinical consequences is of paramount importance for further research and the advancement of therapeutic strategies for this condition. In recent years, groundbreaking studies in the fields of metabolomics and genomics have significantly expanded our knowledge regarding the pathogenic mechanisms of CDH. These investigations introduce novel diagnostic and therapeutic avenues. CDH implies a scarcity of available information within this domain. Consequently, a comprehensive literature review has been undertaken to synthesize existing data, providing invaluable insights into this rare disease. Improved comprehension of the molecular underpinnings of CDH has the potential to refine diagnostic precision and therapeutic interventions, thus potentially enhancing clinical outcomes for CDH patients. The identification of potential biomarkers assumes paramount significance for early disease detection and risk assessment in CDH, facilitating prompt recognition and the implementation of appropriate interventions. The process of translating research findings into clinical practice is significantly facilitated by an exhaustive literature review. It serves as a pivotal step, enabling the integration of novel, more effective diagnostic and therapeutic modalities into the management of CDH patients.

Keywords: Congenital diaphragmatic hernia; Early biomarkers; Genomics; Metabolomics; Proteomics; miRNAs.

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