Summary
Esophageal atresia (EA) is a congenital defect of the esophagus involving the interruption of the esophagus with or without connection to the trachea (tracheoesophageal fistula TEF). EA/TEF ...may occur as an isolated anomaly, may be part of a complex of congenital defects (syndromic), or may develop within the context of a known syndrome or association. The molecular mechanisms underlying the development of EA are poorly understood. It is supposed that a combination of multigenic factors and epigenetic modification of genes play a role in its etiology.
The aim of our work was to assess the human gene expression microarray study in esophageal tissue samples. Total RNA was extracted from 26 lower pouches of esophageal tissue collected during thoracoscopic EA repair in neonates with the isolated (IEA) and the syndromic form (SEA).
We identified 787 downregulated and 841 upregulated transcripts between SEA and controls, and about 817 downregulated and 765 upregulated probes between IEA and controls. Fifty percent of these genes showed differential expression specific for either IEA or SEA. Functional pathway analysis revealed substantial enrichment for Wnt and Sonic hedgehog, as well as cytokine and chemokine signaling pathways. Moreover, we performed reverse transcription polymerase chain reaction study in a group of SHH and Wnt pathways genes with differential expression in microarray profiling to confirm the microarray expression results. We verified the altered expression in SFRP2 gene from the Wnt pathway as well as SHH, GLI1, GLI2, and GLI3 from the Sonic hedgehog pathway. The results suggest an important role of these pathways and genes for EA/TEF etiology.
Summary
Esophageal atresia (EA) is a congenital developmental defect of the alimentary tract concerning the interruption of the esophagus with or without connection to the trachea. The incidence of ...EA is 1 in 3000–3500 of live‐born infants, and occurs in both isolated and syndromic (in combination with abnormalities in other organ systems) forms. The molecular mechanisms underlying the development of EA are poorly understood. Knockout studies in mice indicate that genes like Sonic hedgehog, Gli2, and Gli3 play a role in the etiology of EA. These facts led us to hypothesize that Sonic hedgehog‐GLI gene rearrangements are associated with EA in humans. To test this hypothesis, we screened patients with isolated and syndromic EA for GLI2 and/or GLI3 microrearrangements using methods to estimate the copy number (Multiplex Ligation‐dependent Probe Amplification, real‐time polymerase chain reaction). To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA.
Abstract
Treatment of long-gap esophageal atresia poses a great challenge for a surgeon. A new multistage thoracoscopic repair of long-gap esophageal atresia using internal traction technique was ...developed that evolved with time and growing experience. The goal of this study is to present the changes in the strategy and important technical aspects of the operative method based on a retrospective analysis of performed surgeries.
Methods and Materials
Thirty-five cases of newborns with long-gap esophageal atresia (type A-26 cases and B-9 cases exclusively) were operated thoracoscopically between 2008 and 2019 using internal traction technique in different pediatric surgery centers (Poland–28, Czech–1, Ukraine–1, Switzerland–2, Egypt–2, Russia–1). The idea of the internal traction technique was to place the suture between thoracoscopically mobilized esophageal pouches and keep a static tension between them for a period of time. Patients were operated on as early as it was possible after birth.
Results
Of the 35 newborns operated on using internal traction 2 patients died before the final stage from not surgically-related causes. Two patients had complications that required neck fistula and had later Collis–Nissen and colon interposition, respectively. One case is awaiting the final procedure. For 31 cases the final esophageal anastomosis was completed in two stages–16 cases, three stages–9, four stages–2, five stages–2, and six stages–1. At the beginning the time between stages was planned for 4 weeks (for some cases it was even longer) and it was shortened for the last three cases to 5 days. It allowed avoiding gastrostomy in two cases. The internal traction was modified from using two traction loops to one traction loop with two slipping knots on each branch of the loop. The clips were applied transversely through the tip of each pouch and part of the traction loop to prevent disruption and pouch perforation. It also allowed increasing of the created static traction force.
Conclusion
Results of the study may indicate that in a majority of long-gap esophageal atresia it is possible to preserve the native esophagus by a thoracoscopic approach using an internal traction suture technique. Shortened time between stages allowed completion of the final esophageal anastomosis with gastrostomy avoidance.
Abstract
Background
Tracheoesophageal fistula (TEF) with esophageal atresia (EA) is seen in about 35,000 births. The impact of caring for children after surgical repair of EA is poorly understood and ...the literature regarding this area is scarce. Mortalities are now mostly attributable to any associated anomalies or prematurity, but morbidity and quality of life (QoL) are important to address.
Objective
This study aimed to investigate whether syndromic EA, feeding problems, and prematurity have a significant influence on the family of a child after surgical repair of EA.
Methods
Ethical approval was obtained. This cross-sectional study consisted of 73 participants (mean mothers’ age = 28, SD = 5 years; mean fathers’ age = 31, SD = 6 years) who were parents of children after surgery of EA. The impact of EA on families was assessed using an author-designed questionnaire (ADQ) to collect medical and sociodemographic background data as well as a standardized questionnaire, the PedsQLTM Family Impact Scale (PedsQL-FIM).
Results
Cardiac malformations associated with EA significantly (P = 0.037) affect the functioning of the family in the emotional domain. Skeletal malformations have the greatest impact on the family functioning. Three statistically significant correlations have been demonstrated: (P = 0.021) in the social domain; (P = 0.009) in the cognitive domain; and (P = 0.023) in the domain of communication. The families of patients with TEF had the statistically lower (P < 0.05) score of functioning in the emotional domain than those without TEF. Nonhealth factors frequently included changes in daily activities and deterioration of social position affected caregivers.
Conclusions
Difficulties with feeding and the presence of associated anomalies significantly affect the functioning of the family of the child with EA.
We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also ...diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the
ZEB2
gene. Moreover, molecular karyotyping revealed a deletion involving further genes (
KYNU, ARHGAP15
, and
GTDC1
).
Aim: This study reports the reliability and validity of the Polish version of the Esophageal Atresia Quality of Life (EA-QOL) questionnaires, which were originally developed in Sweden and Germany. ...Methods: A total of 50 families of children (23 aged 2 to 7, and 27 aged 8 to 17) with EA/TEF (esophageal atresia/tracheoesophageal fistula) participated in the study. The development and validation of the Polish version of the EA-QOL involved forward-backward translation of the survey items following the guidelines for cross-cultural translation, cognitive debriefing and evaluation of psychometric properties, including assessment of internal and retest reliability, linguistic validity, content validity, known-group validity and convergent validity. The medical records of patients and standardized questionnaires were used to obtain clinical data. The level of significance was p < 0.05. Results: The Polish versions of the EA-QOL questionnaires demonstrated strong linguistic and content validity, are slightly discriminative for esophageal and respiratory problems, but do not show convergent validity with the PedsQL 4.0 generic core scales. In terms of reliability, the internal consistency of the subscale and total scale of Polish versions as measured by Cronbach’s alpha is good, and retest reliability is excellent. Conclusions: The Polish versions of the EA-QOL questionnaires meet most psychometric criteria that confirm the EA-QOL questionnaires’ reliability and validity. This study enables application of these questionnaires in future research among children with EA in Poland and participation in international multicenter studies focusing on advancing knowledge of condition-specific QOL in this population. Future cross-cultural research using larger sample sizes is still needed to better address the relationship between condition-specific and generic QOL, as well as the discriminative ability of the EA-QOL questionnaires.
Abstract
Since the very beginning in 1999, thoracoscopic repair of esophageal atresia has become a gold standard in many pediatric surgery centers worldwide. Despite the advances in surgical ...technique, treatment of long-gap esophageal atresia still remains a challenge.
The aim of this study is to assess whether the localization of esophageal stumps can predict number of stages needed to perform anastomosis.
We analyzed video records of 21 patients who underwent staged thoracoscopic repair of long-gap esophageal atresia using internal traction technique. All procedures were performed by the same surgeon. We divided patients into two groups: first requiring single internal traction procedure, second who underwent multiple procedures. We assessed esophageal stump position in relation to thoracic vertebrae. The distance between stumps was measured in vertebral bodies.
Mean distance between esophageal ends was 5.8 in single traction group. The distance between the stumps was significantly greater in multiple procedures group: 7.33 (P = 0.003). Patients who required multiple procedures had significantly lower localization of distal stump. Localization of proximal stump did not affect the possibility for anastomosis after single traction. Distance between both ends after internal traction was also significantly longer in multiple procedures group.
Patients with lower localization of distal esophageal stump assessed during primary thoracoscopy are at higher risk for requiring multiple surgical procedures.
Abstract
Introduction
Isolated H-type tracheoesophageal fistula has been distinguished in the group of congenital anomalies of the trachea and esophagus. It is a rare defect that causes diagnostic ...difficulties even for experienced clinicians.
Material and Methods
A retrospective analysis of the medical history of patients, who were operated in the Department of Pediatric Surgery and Urology in Wroclaw between 2009 and 2018 due to H-type tracheoesophageal fistula, was performed.
Results
The study group consists of 7 patients (4 boys and 3 girls). The diagnosis was made postnatally between 1 day of life and 4 months of age. The spectrum of symptoms was broad and varied from saturation disturbances to difficulties in food intake and recurrent pneumonia. In all patients, a contrast study was performed (the result of which was not always unambiguous).
After diagnosis of the H-type fistula in bronchoscopy, the thoracoscopy was performed. All procedures were performed using 5 mm scope and 3 mm instruments. The pressure used during procedures was between 3 and 6 mmHg. All patients underwent right-sided thoracoscopy. To help with fistula identification in 3 patients, an urethral catheter was left in the fistula during the bronchoscopy. The size and appearance of fistulas were variable. Clips or sutures were used to close the fistulas. After surgery, the nasogastric tube was left in the esophagus for 7 days. After a control contrast study, the tube was removed and the full oral feeding was started. In 6 patients, the primary procedure turned out to be the final and no complications were observed in the postoperative course. In one patient in the postoperative course, the chylothorax was observed, the treatment of which required a rethoracoscopy with successful local tissue electrocoagulation.
Conclusions
The congenital isolated tracheoesphageal fistula is a rare disorder. It causes unspecific clinical symptoms, therefore the diagnosis is often difficult. The thoracoscopic access in the hands of skilled surgeon is a safe method and should be the treatment of choice.
The authors present their own modification of surgical staged repair of large abdominal wall defects (AWD). 21 newborns with gastroschisis (GSCH) and 8 with omphalocele (OC) are presented. In all ...patients the protruding viscera were placed in a prosthetic sac with a semi-permeable lining. The sac was suspended using a system with active external traction with a force amounting to 30 - 40 % of the baby's weight. All babies tolerated the applied method well. A progressive stretching of the abdominal wall and enlargement of the abdominal cavity enabled the defect to be closed between the second and sixth postoperative day. In comparison to the classic method, the presented modification of staged repair of AWD makes an earlier reduction of the viscera into the abdomen possible and does not seem to be associated with a higher risk of mechanical or infectious complications.
Abstract
We report on two siblings (boy and girl), which were treated for congenital esophageal atresia with the fistula, at the Department of Pediatric Surgery and Urology in Wroclaw, at an interval ...of two years. These children have two healthy siblings. Both newborns were born on time (38 and 42 week of pregnancy). Prenatally hydramnios was observed in younger child.
They were postnatally diagnosed with congenital esophageal atresia with a distal fistula. Newborns were operated on the second day of life. Bronchoscopy and right-sided thoracoscopy were performed. Both patients had a short-gap esophageal atresia with a distal fistula. The fistula was proximally closed with sutures and divided distally. Subsequently, the one-layered esophageal anastomosis was performed. There were no early postoperative complications. Both patients underwent two esophageal dilatations. Siblings are tolerating oral feeding. Occasionally, parents observe choking in the older child. Patients remain under the constant care of a pediatric surgery clinic.
Moreover, children were evaluated by clinical geneticist and exome sequencing (WES) study on the base of DNA isolated from lymphocytes and esophageal tissues were performed in both siblings.
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