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Risk Factors for Recurrent Tracheoesophageal Fistula After Gross Type C Esophageal Atresia Repair.

ABSTRACT: Background: To determine the possible risk factors of recurrent tracheoesophageal fistula (rTEF) after Gross type C esophageal atresia (EA) and tracheoesophageal fistula (TEF) repair. Methods: The medical records of 343 pediatric patients with Gross type C EA/TEF who underwent surgical repair were retrospectively analyzed. The patients were retrospectively divided into two groups according to whether they had rTEF. Univariate and multivariable logistic regression analysis were performed to identify risk factors for rTEF. Results: After the diagnosis of EA/TEF, 343 patients (221 boys) underwent primary repairs after birth. According to the follow-up results (257 patients survived, 42 died, and 43 were lost to follow-up), 259 patients (257 survived and two died after rTEF repair) were included in the analysis. rTEF occurred in 33 patients (33/259, 12.74%), with a median onset time to recurrence of 3.8 (2.2, 8.2) months. Multivariate analysis showed that closing the original TEF with ligation and hospital stay ≥ 28.5 days were significant risk factors of rTEF with OR of 4.083 (1.481, 11.261) and 3.228 (1.431, 7.282). Conclusions: Surgical closure technique of original TEF and the length of initial stay could influence the occurrence of rTEF after Gross type C EA/TEF repair.

SUBMITTER: Yang S

PROVIDER: S-EPMC8155366 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Retrospective analysis of pneumothorax after repair of esophageal atresia/tracheoesophageal fistula.

Project description:BackgroundTo analyze the possible causes, treatment and outcomes of postoperative pneumothorax in patients with Gross type C esophageal atresia/tracheoesophageal fistula (EA/TEF).MethodsMedical records of patients with Gross type C EA/TEF who were diagnosed and treated in Beijing Children's Hospital from January 2007 to January 2020 were retrospectively collected. They were divided into 2 groups according to whether postoperative pneumothorax occurred. Univariate and multivariate logistic regression analysis were performed to identify risk factors for pneumothorax.ResultsA total of 188 patients were included, including 85 (45 %) in the pneumothorax group and 103 (55 %) in the non-pneumothorax group. Multivariate logistic regression analysis showed that postoperative anastomotic leakage [P < 0.001, OR 3.516 (1.859, 6.648)] and mechanical ventilation [P = 0.012, OR 2.399 (1.210, 4.758)] were independent risk factors for pneumothorax after EA/TEF repair. Further analysis of main parameters of mechanical ventilation after surgery showed that none of them were clearly related to the occurrence of pneumothorax. Among the 85 patients with pneumothorax, 33 gave up after surgery and 52 received further treatment [conservative observation (n = 20), pleural puncture (n = 11), pleural closed drainage (n = 9), both pleural puncture and closed drainage (n = 12)]. All of the 52 patients were cured of pneumothorax at discharge.ConclusionsAnastomotic leakage and postoperative mechanical ventilation were risk factors for pneumothorax after repair of Gross type C EA/TEF, but the main parameters of mechanical ventilation had no clear correlation with pneumothorax. After symptomatic treatment, the prognosis of pneumothorax was good.

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Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".

Project description:Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.

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Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.

Project description:PurposeThe NOG protein is a secretory antagonist of bone morphogenetic proteins (BMPs). Nog-/- mouse embryos demonstrate proximal esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) compatible with the most common configuration of EA/TEF observed in humans. Four microdeletions that span the NOG locus at 17q22 have been described in human patients having EA/TEF. We investigated the incidence of point mutations in the coding region of the NOG gene in human EA/TEF.MethodsDNA was collected from 50 patients previously treated for EA/TEF. PCR was used to amplify the coding region of NOG. To detect single nucleotide polymorphisms (SNPs), amplicons were subjected to temperature gradient capillary electrophoresis (TGCE). Candidate SNPs were directly sequenced.ResultsTGCE analysis revealed a SNP in the coding region of NOG in 1 of 50 patients (2%). DNA sequencing revealed a synonymous SNP at position 468 (C-T) of the NOG coding region.ConclusionSNPs in the coding region of the NOG gene are identified infrequently in human cases of EA/TEF. Further investigation of SNPs in the promoter region of NOG is warranted, as is the effect of synonymous SNPs on NOG mRNA stability.

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Project description:Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.

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Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.

Project description:The various malformations of the aerodigestive tract collectively known as esophageal atresia/tracheoesophageal fistula (EA/TEF) constitute a rare group of birth defects of largely unknown etiology. Previous studies have identified a small number of rare genetic variants causing syndromes associated with EA/TEF. We performed a pilot exome sequencing study of 45 unrelated simplex trios (probands and parents) with EA/TEF. Thirteen had isolated and 32 had nonisolated EA/TEF; none had a family history of EA/TEF. We identified de novo variants in protein-coding regions, including 19 missense variants predicted to be deleterious (D-mis) and 3 likely gene-disrupting (LGD) variants. Consistent with previous studies of structural birth defects, there is a trend of increased burden of de novo D-mis in cases (1.57-fold increase over the background mutation rate), and the burden is greater in constrained genes (2.55-fold, p = 0.003). There is a frameshift de novo variant in EFTUD2, a known EA/TEF risk gene involved in mRNA splicing. Strikingly, 15 out of 19 de novo D-mis variants are located in genes that are putative target genes of EFTUD2 or SOX2 (another known EA/TEF gene), much greater than expected by chance (3.34-fold, p value = 7.20e-5). We estimated that 33% of patients can be attributed to de novo deleterious variants in known and novel genes. We identified APC2, AMER3, PCDH1, GTF3C1, POLR2B, RAB3GAP2, and ITSN1 as plausible candidate genes in the etiology of EA/TEF. We conclude that further genomic analysis to identify de novo variants will likely identify previously undescribed genetic causes of EA/TEF.

| S-EPMC7852873 | biostudies-literature

Generation of three induced pluripotent stem cells lines from patients with esophageal atresia/tracheoesophageal fistula type C.

Project description:Esophageal atresia/tracheoesophageal fistula (EA/TEF) is the most common congenital anomaly of the upper gastrointestinal tract affecting 1 in 3,000 which could stem from a developmental anomaly of the foregut. The cause is not fully understood. We generated three iPSC cell lines using peripheral blood mononuclear cells (PBMCs) from EA/TEF type C patients. Pluripotency and trilineage differentiation capacity of these three iPSC cell lines were confirmed by gene and protein expression profiles and the differentiation ability into the three germ layers. The generated disease-specific cell lines could serve as a tool to investigate the mechanisms of EA/TEF and acquired associated diseases.

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Minimally invasive management of combined esophageal atresia with tracheoesophageal fistula and duodenal atresia: a comprehensive case report.

Project description:A newborn presented with a rare combination of esophageal atresia with tracheoesophageal fistula (EA/TEF) and duodenal atresia (DA), which was successfully managed using minimally invasive surgical techniques. The patient was a 1-day-old male for whom passing a feeding tube was infeasible and who had a double bubble sign on radiography. The neonate underwent a thoracoscopic ligation of the tracheoesophageal fistula (TEF) and a laparoscopic duodeno-duodenostomy on the same day, resulting in stabilized vital signs. Ten days after the initial operation, a thoracoscopic esophago-esophagostomy was successfully performed. The patient demonstrated full feeding capability and normal weight gain after the surgeries. The co-occurrence of EA/TEF and DA is a rare and complex anomaly. This case indicates that minimally invasive techniques can effectively manage this condition.

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Clinical comparison between thoracoscopic and thoracotomy repair of Gross type C esophageal atresia.

Project description:BackgroundTo compare the clinical outcomes between thoracoscopic approach and thoracotomy surgery in patients with Gross type C Esophageal atresia (EA) and tracheoesophageal fistula (TEF).MethodsPatients with Gross type C EA/TEF who underwent surgery from January 2007 to January 2020 at Beijing Children's Hospital were retrospectively analyzed. The patients were divided into two groups according to surgical approaches. The perioperative factors and postoperative complications were compared among the two groups.ResultsOne hundred and ninety patients (132 boys and 58 girls) with a median birth weight of 2975 (2600, 3200) g were included. The primary operations were performed via thoracoscopic (n = 62) and thoracotomy (n = 128) approach. After comparison of clinical characteristics between the two groups, we found that there were statistically significant differences in associated anomalies, method of fistula closure, duration of mechanical ventilation after surgery, feeding option before discharge, management of pneumothorax, and prognosis (all P < 0.05). To a certain extent, thoracoscopic surgery reduced the incidence of anastomotic leakage and increased the incidence of anastomotic stricture in this study. However, there were no statistically significant differences between the two groups in terms of operative time, postoperative pneumothorax, anastomotic leakage, anastomotic stricture, and recurrent tracheoesophageal fistula (all P > 0.05).ConclusionsThoracoscopy surgery for Gross type C EA/TEF is a safe and effective, minimally invasive technique with comparable operative time and incidence of postoperative complications.

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Simple Technique of Bridging Wide Gap in Esophageal Atresia with Tracheoesophageal Fistula - "Surgical Innovation".

Project description:The survival of the patients with esophageal atresia an tracheo esophageal fistula is believed to be an epitome of the success of the neonatal surgery. Restoring the continuty of the food pipe by esophagus to esophagus anastomosis is the best option. Preservation of natural esophagus by delayed repair in a wide gap esophageal atresia is a preferred technique worldwide, however such a management required prolonged hospitalization and dedicated nursing care, which is often not available in most of the centres in India. Esophageal substitutes in wide gap requires multiple operations and have long term problems, so remains the last option. I use the technique of oblique anastomosis which had distrinct advantage over circular anastomosis in the management of esophageal atresia1. This techniqe helps in bridging wide gap to some extent & minimal stricture formation.

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