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探讨先天性膈疝的新视角:全面综述。

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

机构信息

Department of Gynecological Endocrinology and Adolescent Gynecology, Medical University of Bialystok, M. Sklodowskiej-Curie 24a, 15-276 Bialystok, Poland.

Clinical Research Centre, Medical University of Bialystok, M. Sklodowskiej-Curie 24a, 15-276 Bialystok, Poland.

出版信息

Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167105. doi: 10.1016/j.bbadis.2024.167105. Epub 2024 Feb 28.

Abstract

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.

摘要

先天性膈疝 (CDH) 是一种发育异常,严重影响胚胎时期呼吸系统和心血管系统的发育。了解发育缺陷的影响、起源及其临床后果,对于进一步研究和推进该疾病的治疗策略至关重要。近年来,代谢组学和基因组学领域的突破性研究极大地扩展了我们对 CDH 发病机制的认识。这些研究为诊断和治疗提供了新的途径。CDH 意味着该领域的可用信息相对较少。因此,我们进行了全面的文献综述,以综合现有数据,为这种罕见疾病提供宝贵的见解。对 CDH 分子基础的深入理解有潜力提高诊断的准确性和治疗干预的效果,从而可能改善 CDH 患者的临床结局。在 CDH 中,识别潜在的生物标志物对于早期疾病检测和风险评估至关重要,有助于及时发现并采取适当的干预措施。通过详尽的文献综述,可以将研究结果更有效地转化为临床实践。它是一个关键步骤,能够将新的、更有效的诊断和治疗方法整合到 CDH 患者的管理中。

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