Abstract
Congenital diaphragm hernia (CDH) is a congenital disease that occurs during prenatal development. Although the morbidity and mortality rate is rather significant, the pathogenesis of CDH has been studied insignificantly due to the decreased accessibility of human pathological material. Therefore the aim of our work was to evaluate growth factors (transforming growth factor-beta (TGF-β), basic fibroblast growth factor (bFGF), insulin-like growth factor 1 (IGF-1), hepatocyte growth factor (HGF)) and their receptors (fibroblast growth factor receptor 1 (FGFR1), insulin-like growth factor 1 (IGF-1R)), muscle (dystrophin, myosin, alpha actin) and nerve quality (nerve growth factor (NGF), nerve growth factor receptor (NGFR), neurofilaments (NF)) factors, local defense factors (ß-defensin 2, ß-defensin 4), programmed cell death (TUNEL), and separate gene (Wnt-1) expression in human pathological material to find immunohistochemical marker differences between the control and the CDH patient groups. A semi-quantitative counting method was used for the evaluation of the tissues and structures in the Biotin-Streptavidin-stained slides. Various statistically significant differences were found in immunoreactive expression between the patient and the control group tissue and the morphological structures as well as very strong, strong, and moderate correlations between immunoreactives in different diaphragm cells and structures. These significant changes and various correlations indicate that multiple morphopathogenetic pathways are affected in CDH pathogenesis. This work contains the evaluation of the causes for these changes and their potential involvement in CDH pathogenesis.
Highlights
Congenital diaphragmatic hernia (CDH) is a developmental defect with the incidence in Europe estimated to be 2.3 per 10.000 births [1]
Based on the mentioned above, our aim was the detection of appearance and distribution of different growth factors and their receptors, muscle and nerve quality factors, local defense factors, programmed cell death, and separate gene expression in the different diaphragm sites of diaphragm hernia patients and comparison of the results with the control group in order to find those changes that could lead to the morphopathogenetic mechanism in the development of CDH
Immunoreactive expression was compared between the patient and the control groups in different diaphragm sites of diaphragm hernia to determine the significance of different growth factors and their receptors, muscle and nerve quality factors, local defense factors, programmed cell death, and separate gene expression in the development of CDH
Summary
Congenital diaphragmatic hernia (CDH) is a developmental defect with the incidence in Europe estimated to be 2.3 per 10.000 births [1]. The tissues necessary for diaphragm development are mainly supported by four embryonic components: septum transversum, pleuro-peritoneal folds (PPF), dorsal mesentery of esophagus, and muscular ingrowths from lateral body walls. During prenatal development, these structures may fail to fuse thereby resulting in formation of CDH. GATA-4, COUP-TFII, and WT-1 significance in CDH development is intertwined with the retinoic acid signaling pathway. COUP-TFII is a downstream target of retinoid signaling, and WT-1 gene is responsible for encoding a zinc-finger-containing protein which is involved in the retinoic acid signaling pathway. The transcription factors GATA-4, COUP-TFII and Fog are expressed in early development of PPFs [5]
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