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Temporal preferential expression of genes associated with esophageal malformations. (A) Ranked normalized disease score for all cell types within the developmental time points of E3.5, E4.5, E5.5, E6.5, E7.5, E8.75 (extracted from the descendants of either visceral or definitive endoderm in the gut tube), and E8.75 (taken from anterior/posterior halves). (B) Ranked normalized disease score for all cell types within the time points of E8.0, E9.0, and E9.5 in anterior and posterior regions of the foregut. Comparisons with the p-value < 10–10 from a Wilcoxon’s rank-sum test are denoted by three asterisks. (C) The correlation of gene expression with single-cell disease scores for 20,898 human genes in the developmental stages of E5.5–E8.75 (single-cell atlas of Nowotschin et al.²⁰) (y-axis) versus the same correlation in the later stages of E8.0–E9.5 days (Han et al.¹⁵). The p-values in all panels were calculated from the scDRS algorithm using permutation tests.
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Understanding the molecular mechanisms of congenital diseases is challenging due to their occurrence within specific developmental stages. Esophageal malformations are examples of such conditions, characterized by abnormalities in the development of esophagus during embryogenesis. These developmental malformations encompass a range of anomalies, in...
Citations
... Esophageal atresia, caused by incomplete embryonic compartmentalization of the foregut commonly occurs with a tracheoesophageal fistula [9]. It is thought-provoking to keep in mind that esophageal malformations are the product of abnormalities during embryogenesis where members of the forkhead-box family of transcription factors, as well as the SRY-box transcription factor SOX2, are preferentially expressed in embryonic fibroblast the former and epithelial subpopulations the latter [10,11]. The Fox family of transcription factor are up-regulated in patients with tracheoesophageal fistulas [12] but transcription factor SOX2 is a vital regulator of stem cell activity in developing human tissues [13] and its mutation has been associated to tracheoesophageal fistula [14]. ...
Purpose: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare anomalies in neonates that must be surgically repaired by esophageal reconstruction with or without ligation of the fistula. Recurrent tracheoesophageal fistula (rTEF) occurs in 3-15% of primary surgical repairs in esophageal atresia; it is associated with recurrent hospital admissions and up to 27% short term mortality. Dependable reparation very often proves difficult by standard surgical techniques. Using oesophageal fully covered self-expandable metal stents in adult patients yields a <50% efficacy and other endoscopic techniques such as occlusion by clips or glue show no better results. A minimally invasive alternative is the use of vascular plug septal occluders. We report the efficacy of endoscopic placement of a cardiac septal occluder (CSO) in a paediatric patient. Clinical case: A 12-year-old female with recurrent (rTEF) and refractory tracheoesophageal fistula (refTEF) was subjected to an refTEF closure procedure via endoscopic placement of a cardiac septal occlusion device. Conclusion: Debate regarding the gold standard of rTEF treatment closure a hot debate but flexible endoscopy is an accepted alternative. This report describes the successful fixing of a refTEF using a cardiac septal occluder. After four weeks follow up, no re-incidence of the tracheoesophageal fistula was detected. The results advocate for the endoscopic closure of refractory tracheoesophageal fistula with cardiac occluders in children thus establishing a promising therapeutical alternative in refTEF in paediatric population patients.
