Congenital diaphragmatic hernia (CDH) is a major life-threatening cause of respiratory failure in the newborn. Recent data reveal the role of a retinoid-signaling pathway disruption in the pathogenesis of CDH. We describe the epidemiology and pathophysiology of human CDH, the metabolism of retinoids and the implications of retinoids in the development of the diaphragm and lung. Finally, we describe the existing evidence of a disruption of the retinoid-signaling pathway in CDH.
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http://dx.doi.org/10.1007/s00383-008-2140-x | DOI Listing |
Taiwan J Obstet Gynecol
January 2025
Ultrasound, Chongqing Health Center for Women and Children, Chongqing, China; Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, China. Electronic address:
Objective: To explore outcomes of fetuses with severe congenital diaphragmatic hernia (CDH) after fetal endoluminal tracheal occlusion (FETO) treatment.
Case Report: Fetuses diagnosed with severe CDH and taken FETO for intrauterine treatment from January 2020 to December 2023 were recruited. There was no significant difference in general conditions, as well as O/E LHR and measurements related to CDH (p > 0.
Pediatr Cardiol
January 2025
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, The Heart Institute, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Cardiac-Urogenital Syndrome (CUGS) is a recently identified genetic disease characterized by urogenital, diaphragmatic, ophthalmic, and cardiac abnormalities caused by heterozygous pathogenic variants in the Myelin Regulatory Factor (MYRF) gene. The complete spectrum of disease characteristics and prevalence is not yet defined. This report documents the first known cases of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in MYRF-associated Cardiac-Urogenital Syndrome (MYRF-CUGS).
View Article and Find Full Text PDFCongenit Anom (Kyoto)
January 2025
Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Hyogo, Japan.
J Pediatr Surg
December 2024
Department of Pediatric Surgery, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, Mannheim 68167, Germany. Electronic address:
Introduction: Open repair of Congenital diaphragmatic hernia (CDH) in neonates often involves reconstruction of the abdominal wall using a patch. Data on predictors for the need of a patch and associated postoperative risks, such as infection or patch detachment, are limited. Specifically, the question regarding the ideal timepoint of patch removal remains unanswered.
View Article and Find Full Text PDFJ Cardiothorac Surg
January 2025
Internal Medicine, University of Arkansas for Medical Sciences - Northwest, Fayetteville, USA.
Introduction: The rarest form of renal ectopia, the thoracic kidney, has been documented in only about 200 cases worldwide. There are four recognized causes of congenital thoracic renal ectopia: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. This condition often presents as an incidental finding in asymptomatic patients.
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