Esophageal Atresia And Tracheoesophageal Fistula Research Articles

Bronchoscopic Localization of Tracheoesophageal Fistula in Newborns With Esophageal Atresia: Intubate Above or Below the Fistula?

PurposeIn neonates with suspected type C esophageal atresia and tracheoesophageal fistula (EA/TEF) who require preoperative intubation, some texts advocate for attempted “deep” or distal-to-fistula intubation. However, this can lead to gastric distension and ventilatory compromise if a distal fistula is accidentally intubated. This study examines the distribution of tracheoesophageal fistula locations in neonates with type C EA/TEF as determined by intraoperative bronchoscopy. MethodsThis was a single-center retrospective review of neonates with suspected type C EA/TEF who underwent primary repair with intraoperative bronchoscopy between 2010-2020. Data were collected on demographics and fistula location during bronchoscopic evaluation. Fistula location was categorized as amenable to blind deep intubation (>1.5 cm above carina) or not amenable to blind deep intubation intubation (<1.5 cm above carina or carinal). ResultsSixty-nine neonates underwent primary repair of Type C EA/TEF with intraoperative bronchoscopy during the study period. Three patients did not have documented fistula locations and were excluded (n=66). In total, 49 (74%) of patients were found to have fistulas located <1.5 cm from the carina that were not amenable to blind deep intubation. Only 17 patients (26%) had fistulas >1.5 cm above carina potentially amenable to blind deep intubation. ConclusionsMost neonates with suspected type C esophageal atresia and tracheoesophageal fistula have distal tracheal and carinal fistulas that are not amenable to blind deep intubation. Level of EvidenceLevel III.

Predictors of Early Mortality in Esophageal Atresia: A 12-year Cohort Study in Tehran, Iran

Background: Esophageal atresia and tracheoesophageal fistula (EA/TEF) is a known correctable anomaly of the esophagus, and its prognosis depends on multiple factors. Studies investigating the EA/TEF post-operative outcomes among the Iranian population are limited to small sample sizes, and the current prevalence of coexisting anomalies and predictors of poor prognosis in the Iranian population is still unclear. Objectives: This study aimed to investigate the predictors of in-hospital mortality in neonates with EA/TEF at our center within a 12-year period. Methods: In this retrospective cohort study, we investigated neonates with EA/TEF admitted/referred to a tertiary referral center in Tehran, Iran, from March 2008 to April 2020. Neonates with chromosomal anomalies or age &gt; 10 days at operation date were excluded. Baseline characteristics, associated anomalies, type of EA, and transmission distance were compared in the study population. We followed the neonates for incurring in-hospital mortality. Results: We included 233 neonates in the final analysis. The mean age at operation was 3.1 ± 1.7 days, and 111 (47.6%) cases were female. The most common EA type was type C (proximal esophageal atresia with distal fistula), with a prevalence of 94.4%. In this cohort, 23 (9.9%) cases had vertebral anomalies, anal atresia, cardiovascular malformations, trachea-esophageal fistula, renal and limb anomalies (VACTERL) association, and 29 (12.4%) cases died during the in-hospital course. Moreover, neonates with lower birth weight, gestational birth weight &lt; 37 weeks, other coexisting anomalies, cardiovascular defects, and non-VACTERL anomalies were at higher risk of in-hospital mortality. In contrast, EA types and transmission distance did not increase the mortality risk. Furthermore, we measured a cut-off value of &lt; 2575.0 g for birth weight to predict in-hospital mortality with 65.5% sensitivity and 61.3% specificity. Conclusions: Lower birth weight, prematurity (&lt; 37 weeks), and coexisting anomalies, especially cardiovascular defects, were associated with an increased risk of in-hospital mortality in neonates after EA/TEF repair surgery.

Current outcomes of infants with esophageal atresia and tracheoesophageal fistula: A multicenter analysis

ObjectiveThis study aims to quantify mortality rates and hospital lengths of stay (LOS) in neonates with esophageal atresia and tracheoesophageal fistula (EA/TEF), and to characterize the effects of birth weight (BW) and associated congenital anomalies upon these. MethodsData regarding patients with EA/TEF were prospectively collected (2013–2019) at 298 North American centers. The primary outcome was mortality and secondary outcome was LOS. Risk factors affecting mortality and LOS were assessed. ResultsEA/TEF was diagnosed in 3290 infants with a median BW of 2476 g (IQR 1897,2970). In-hospital mortality was 12.7%. Mortality was inversely correlated with BW. After adjustment, the risk of mortality decreased by approximately 11% with every 100 g increase in BW. A significant congenital anomaly other than EA/TEF was diagnosed in 37.9% of patients. Risk of mortality increased in patients with associated congenital anomalies, most notably in those with a severe cardiac anomaly. Lower BW was associated with an increased mean LOS among survivors. Similar to mortality risk, additional anomalies were associated with prolonged LOS. ConclusionsThis study demonstrates an in-hospital mortality of over 10%. Both increased mortality and prolonged LOS are highly associated with lower birth weight and the presence of concomitant congenital anomalies.

Association of operative approach with outcomes in neonates with esophageal atresia and tracheoesophageal fistula

Purpose: We sought to evaluate the impact of thoracoscopic repair on perioperative outcomes in infants with esophageal atresia and tracheoesophageal fistula (EA/TEF).Methods: The American College of Surgeons National Surgical Quality Improvement Program pediatric database from 2014 to 2018 was queried for all neonates who underwent operative repair of EA/TEF. Operative approach based on intention to treat was correlated with perioperative outcomes, including 30-day postoperative adverse events, in logistic regression models.Results: Among 855 neonates, initial thoracoscopic repair was performed in 133 (15.6%) cases. Seventy (53%) of these cases were converted to open. Those who underwent thoracoscopic repair were more likely to be full-term (p = 0.03) when compared to those in the open repair group. There were no significant differences in perioperative outcome measures based on surgical approach except for operative time (thoracoscopic: 217 min vs. open: 180 min, p<0.001). A major cardiac comorbidity (OR 1.6, 95% CI 1.2–2.1; p = 0.003) and preoperative ventilator requirement (OR 1.4, 95% CI 1.0–1.9; p = 0.034) were the only risk factors associated with adverse events.Conclusions: Thoracoscopic neonatal repair of EA/TEF continues to be used sparingly, is associated with high conversion rates, and has similar perioperative outcomes when compared to open repair.Level of evidence: III

Evaluation of pulmonary complications and affecting factors in children for repaired esophageal atresia and tracheoesophageal fistula

IntroductionRecurrent pulmonary infections, wheezing and stridor due to swallowing dysfunction, esophageal dysmotility, gastroesophageal reflux, tracheomalacia and bronchomalacia are frequently seen complications after esophageal atresia and tracheo-esophageal fistula (EA-TEF) surgeries. This study aimed to investigate the frequency and causes of respiratory problems and to evaluate the factors that affect respiratory morbidity in patients who had undergone EA-TEF repair in a tertiary referral center. MethodsPreoperative and postoperative records of patients with EA, TEF + EA and isolated EA were examined retrospectively. Accompanied diseases and swallowing dysfunction symptoms were questioned. Bronchoalveolar lavage results were investigated if the patient had flexible bronchoscopy. ResultsA total of 71 children with EA were included in the study, and seven patients who did not have follow-up after surgery were excluded. 46 of the 64 patients continue regular follow-up visits in our department. Male sex, primary EA repair in another center, EA type C, accompanying genetic anomalies, severe tracheomalacia, late per oral feeding (1 year after surgery), and severe GER were found to cause significantly higher incidence of coughing, recurrent wheezing, recurrent pneumonia, and bronchiectasis despite surgical and medical treatments (p = 0.048, p = 0.045, p = 0.009, p = 0.029, p = 0.025). Conclusi̇onEven if anatomical anomalies are corrected by surgery in patients who underwent EA repair, precautions can be taken for GERD, laryngotracheomalacia, and swallowing dysfunction, and effective pulmonary rehabilitation can be initiated with early multidisciplinary approach before the development of respiratory tract symptoms.

Influence of birth weight on primary surgical management of newborns with esophageal atresia

BackgroundTo determine if birth-weight (BW) influences primary surgical management of newborns undergoing operation for esophageal atresia and tracheo-esophageal fistula (EA-TEF). MethodsNewborns undergoing repair of esophageal atresia at a single specialist centre between 1999 and 2017 were categorised into three groups based on BW; Group A < 1.5 kg, Group B <2.5 kg and Group C >2.5 kg. Outcome data analysed were (i) technical ability of the surgeon to perform primary esophageal anastomosis, (ii) anastomotic leak, (iii) anastomotic stricture, (iv) esophageal replacement, (v) need for other procedures notably fundoplication, aortopexy, tracheostomy and (vi) mortality. Statistical analysis was performed using a two-tailed Fisher's exact test and logistic regression. Results198 patients underwent surgery for EA-TEF during the study period, Group A (n = 13), Group B (n = 73) and Group C (n = 112). Inability to perform a primary anastomosis was significantly higher in Group A vs Group B (p = 0.003) and Group C (p = 0.004). Birthweight was a significant variable in the ability to perform a primary esophageal anastomosis (OR 1.009, p = 0.004). Mortality rate was significantly higher in Group A vs Group C (P = 0.0158). ConclusionsVery low birth weight infants are less likely to achieve a definitive primary anastomosis during emergent repair of esophageal atresia, and have a higher mortality.

MicroRNA Levels in Exhaled Breath Condensate of Patients with Esophageal Atresia.

MicroRNAs (miRNAs) are noncoding RNAs that play an important role in the regulation of inflammation and have not been evaluated in exhaled breath condensates (EBC) of patients with esophageal atresia and tracheoesophageal fistula (EA-TEF). It is aimed to evaluate the levels of miRNA-21 and miRNA-24 in EBC of patients with EA-TEF. Patients who received surgery for EA-TEF (EA) were assessed for age, sex, types of anomaly, surgical treatments, and respiratory problems. A 500-1000 mL of EBC was obtained from each participant with EcoScreen. The levels of miRNA-21 and miRNA-24 in the EBC were analyzed by real-time polymerase chain reaction and compared between the EA group and the control group consisting of healthy children with no history of respiratory problems (n= 17). The levels of miRNAs in relation to respiratory problems and gastroesophageal reflux (GER) were also assessed. A total of 19 patients were enrolled in the EA group with a mean age of 7.8 ± 3.2 years and a male-to-female ratio of 10:9 EA cases had significantly lower levels of miRNA-21 (P< 0.05) compared to that in control group. The miRNA-24 levels did not differ between groups (P> 0.05). EA patients with positive pH testing for GER (n= 6) and fundoplication (n= 6) had higher levels of miRNA-21 than those with normal pH testing and without fundoplication, respectively (n= 13, P< 0.05). The levels of miRNA-21 and miRNA-24 did not differ between patients with and without proton pump inhibitor treatment (P> 0.05). The lower levels of miRNA-21 in the EBC of EA patients suggest a hyperreactive airway problem, which may be associated with GER and its surgical treatment.

End-User Input into the Design and Validation of a Synthetic Thoracoscopic Esophageal Atresia/Tracheo-Esophageal Fistula Simulator.

Introduction: Thoracoscopic repair of esophageal atresia and tracheo-esophageal fistula (EA/TEF) is challenging. We addressed this by designing a fully synthetic simulator of the procedure and described the design process and how its content validity was assessed. Methods: An iterative design and assessment of content validity was undertaken in three stages. Data were collected from participants who trialed the model and completed a survey of their experience (adapted from Barsness et al.). Results: The model was trialed by participants of varying experience. Each design refinement improved the model's fidelity and validity. For the last iteration of the simulator, the observed averages (out of a maximum of 5) were: value as a training tool 4.8, relevance 4.6, physical attributes 4.5, realism of material 4.25, realism experience 4.17, and ability to perform tasks 3.77. Conclusion: An iterative design process based on end-user feedback has led to a synthetic simulator that has achieved a high level of content validity. This model has advantages over other EA/TEF simulators in that it is relatively inexpensive and does not use animal tissue, thus removing ethical and procurement issues. It was rated highly for its value and relevance to training.

Development of an instrumented thoracoscopic surgical trainer for objective evaluation of esophageal atresia/tracheoesophageal fistula repair.

Operative repair of complex conditions such as esophageal atresia and tracheoesophageal fistula (EA/TEF) is technically demanding, but few training opportunities exist outside the operating theater for surgeons to attain these skills. Learning them during surgery on actual neonates where the stakes are high, margins for error narrow, and where outcomes are influenced by technical expertise, is problematic. There is an increasing demand for high-fidelity simulation that can objectively measure performance. We developed such a simulator to measure force and motion reliably, allowing quantitative feedback of technical skill. A 3D-printed simulator for thoracoscopic repair of EA/TEF was instrumented with motion and force tracking components. A 3D mouse, inertial measurement unit (IMU), and optical sensor that captured force and motion data in four degrees of freedom (DOF) were calibrated and verified for accuracy. The 3D mouse had low average relative errors of 2.81%, 3.15%, and 6.15% for 0mm, 10mm offset in Y, and 10mm offset in X, respectively. This increased to - 23.5% at an offset of 42mm. The optical sensors and IMU displayed high precision and accuracy with low SDs and average relative errors, respectively. These parameters can be a useful measurement of performance for thoracoscopic EA/TEF simulation prior to surgery. Graphical abstract Inclusion of sensors into a high-fidelity simulator design can produce quantitative feedback which can be used to objectively asses performance of a technically difficult procedure. As a result, more surgical training can be done prior to operating on actual patients in the operating theater.

DOZ047.02: Effect of prokinetics on gastric function in children with esophageal atresia and tracheoesophageal fistula (EA-TEF)

Abstract Background To the aim of this study was to determine the effect of domperidone on gastric function in the EA-TEF cohort. Methods Five participants with previously demonstrated abnormal gastric myoelectrical activity and/or delayed gastric emptying on electrogastrography (EGG) and 13C-octanoic acid breath test (OBT), respectively, were recruited. These participants were treated with domperidone (0.2 mg/kg/dose twice a day), for a minimum of 2 weeks, and EGG and OBT investigations were repeated along with a validated PedsQL gastrointestinal symptom questionnaire. A baseline and follow-up ECG was done to check for potential QT interval prolongation. Results Mean gastric emptying half-time was135.4 minutes off therapy and 277.01 minutes on therapy (p = NS) while the mean gastric emptying coefficients were 3.34 and 3.25, respectively (p = NS). All five participants’ gastric myoelectrical activity on EGG remained abnormal. Although the mean percentage of gastric slow waves spent in normal frequency decreased by 1.65%, the post- prandial-to-resting power ratio increased by 8.452 (p = NS). Both parent- and child-reported overall PedsQL scores increased as did the child-reported PedsQL scores based on symptoms related to gastric function (p = NS). Conclusions Domperidone in standard doses did not result in significant change in gastric emptying in EA-TEF children with delayed gastric emptying. This may be due to abnormalities in gastric innervation, in children with EA-TEF. There was however an improvement in the power ratio on EGG. There was also improvement in the PedsQL scores. The lack of statistical significance may be due to our small sample size.

DOZ047.06: The MicroRNA levels in exhaled breath condensate of patients with esophageal atresia and tracheoesophageal fistula

Abstract Aim MicroRNAs (miRNAs) are noncoding RNAs that play a role in regulation of inflammation and cancer. It has been shown that miRNA-21 and 24 are downregulated in the exhaled breath condensate (EBC) of children with chronic inflammatory lung disease and asthma. A prospective study was performed to evaluate the miRNA-21 and 24 levels in the EBC of patients with esophageal atresia and tracheoesophageal fistula (EA-TEF). Methods Patients operated for EA-TEF were evaluated for age, sex, type of anomaly, surgical treatment, and respiratory problems. 500–1000 μl of EBC was obtained from all patients with Ecoscreen. miRNA-21 and 24 levels in EBC were analyzed with ELISA. The results of the study group were compared with a control group (CG) consisting of healthy children with no history of respiratory problems and allergy (n = 17). miRNA levels were compared with respiratory problems and gastroesophageal reflux (GER). Results Nineteen patients with EA-TEF with a mean age of 7.8 ± 3.2 years were enrolled in the study. The male–female ratio was 10:9. The mean age of the CG was 9.1 ± 3.6 years (P &gt; 0.05). Distal fistula (78.9%) was the most common type of anomaly. 76.5% of cases required esophageal dilatations for strictures and 15.8% of them had fistula recurrence. Fifteen of the cases with EA were diagnosed as hyperreactive airway disease and require medical treatment. When miRNA levels were compared with CG (median = 0.68), EA cases had significantly decreased levels of miRNA-21 (median = 0.64, P &lt; 0.05). There was no difference between groups for miRNA-24 levels (P &gt; 0.05). The miRNA levels were also compared in patients with EA, according to positive pH testing for GER, use of proton pump inhibitor (PPI) treatment, and need for fundoplication. Patients with GER in pH test (median = 0.66) and fundoplication (median = 0.66) had increased levels of miRNA-21 than patients without reflux (median = 0.63) and surgical treatment (median = 0.64) (P &lt; 0.05). The levels of miRNA-21 and 24 did not show any significant difference in patients with and without PPI treatment (P &gt; 0.05). Conclusion The decreased levels of miRNA-21 in EBC suggest a hyperreactive airway problem in EA patients. Increased miRNA levels in EBC are associated with GER and its surgical treatment.

DOZ047.12: A comparative analysis of concerns of caregivers with repaired esophageal Atresia-Tracheoesophageal fistula

Abstract Aim Children with esophageal atresia and tracheoesophageal fistula (EA-TEF) may experience feeding and swallowing difficulties, which result in stressful interactions between children and caregivers, and potentially impact the concerns of caregivers. The aim of this study was to assess concerns of caregivers of children with EA-TEF related to feeding–swallowing difficulties and compare the concerns according to type of atresia, repair time and time to start oral feeding. Methods Caregivers accompanying 24 children with EA-TEF were included. Age, sex, type of atresia, repair time, and time to start oral feeding of children were noted. Parents completed the Feeding/Swallowing Impact Survey (FS-IS) to assess the concerns of caregivers related to feeding–swallowing difficulties. It has three subscales, including daily activities, worry, and feeding difficulties. Average scores range between 1 and 5, of which increasing scores reflect more caregiver concern. Results The mean age was 3.41 ± 2.71 years, of which 66.7% were male. 56.3% of cases were isolated EA, and 43.8% were EA–distal TEF. 60.9% of cases received early repair (&lt;1 month of age), and 39.1% had delayed repair (between 1 and 12 months). The median time to start oral feeding was 4 weeks (min = 2, max = 128). The mean scores of daily activities, worry, feeding difficulties, and the total score were 2.40 ± 1.01, 2.79 ± 1.06, 2.14 ± 0.95, and 2.49 ± 0.88, respectively. Caregivers of children with isolated EA reported more problems with ‘daily activities’, ‘feeding difficulties’, and ‘total score’ than EA–distal TEF (P &lt; 0.05). Caregivers of children who received delayed repair reported more problems with the ‘daily activities’ subscale and ‘total score’ than children with early repair (P &lt; 0.05). Moderate to strong correlations were found between the ‘daily activities’ and ‘feeding difficulties’ subscales of FS-IS and time to start oral feeding (P &lt; 0.05, r = 0.56–0.69). Conclusions This study suggests that concerns of caregivers of children with EA-TEF related to feeding–swallowing difficulties are associated with the surgical outcome of EA. Caregivers of children with isolated-EA and/or delayed repair and/or delay in oral intake may have higher concerns related to feeding–swallowing difficulties.

Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair

PurposeMost pediatric surgeons perform <2 esophageal atresia and tracheoesophageal fistula (EA/TEF) repairs annually. We aimed to determine whether higher surgeon and hospital volumes are associated with better outcomes after EA/TEF repair. MethodsNeonates with a diagnosis and repair of EA/TEF at their index hospital admission in the Pediatric Health Information System from 1/2000 to 9/2015 were included. For each patient, hospital and surgeon operative volumes were defined as the number of EA/TEF cases treated in the previous 365 days. Propensity score weighting was used to estimate relationships between operative volumes and rates of in-hospital mortality, readmission within 30 days, and readmission, reoperation, and dilation within one year. ResultsAmong 3085 patients, lower birth weight, earlier gestational age, the presence of congenital heart disease, and certain other anomalies were associated with higher mortality. In risk-adjusted analyses, there were no significant differences in mortality or any other outcome based on hospital or surgeon volume alone or when comparing low- or high-volume surgeons practicing at low- or high-volume hospitals. ConclusionsNeither surgeon nor hospital volume significantly impacted outcomes after EA/TEF repair. Our findings imply that selective referral and pediatric surgeon subspecialization in EA/TEF may not translate to improved outcomes. Type of studyRetrospective comparative study Level of evidenceLevel III.

Vocal cord dysfunction following esophageal atresia and tracheoesophageal fistula (EA/TEF) repair

BackgroundThe purpose of this study was to determine risk factors and long-term outcomes in patients with esophageal atresia +/−tracheoesophageal fistula (EA/TEF) with vocal cord dysfunction (VCD) owing to recurrent laryngeal nerve (RLN) injury. MethodA retrospective chart review was performed for EA/TEF patients repaired at our institution from 1999 to 2014 (REB #1000032265). ResultsOf 197 patients, 22 (11.2%) were diagnosed with VCD by indirect laryngoscopy following EA/TEF repair. Aspiration was documented on video swallow study for 21 patients, and as a result, 13 required thickened feeds and 8 required gastrostomy tube feeds. Of the 16 H-type TEF patients, 8 (50%) had VCD. Following discharge, 20 (90.9%) patients with VCD eventually tolerated full feeds orally without aspiration but only 8 (36.4%) had documented recovery of vocal cord movement at long-term follow up (mean 452 days). Overall, patients with VCD were more likely to have feeding modifications, increased exposure to radiological studies, and increased frequency of Otolaryngology follow-up compared to EA/TEF patients without VCD. ConclusionEA/TEF patients are at risk for VCD. Clinical improvement did not always correlate with recovery of VC motion. Strategies to minimize RLN damage will improve outcomes and quality of life for EA/TEF patients. Level of evidenceLevel III.

Right or left thoracotomy for esophageal atresia and right aortic arch? Systematic review and surgicoanatomic justification

IntroductionThe optimal thoracotomy approach for the management of esophageal atresia and tracheoesophageal fistula (EA/TEF) with a right aortic arch (RAA) remains controversial. MethodsSystematic review of complications and death rates between right- and left-sided repairs, including all studies on EA/TEF and RAA, apart from studies focusing on long-gap EA and thoracoscopic repairs. Review of right- and left-sided surgical anatomy in relation to reported complications. ResultsAlthough no significant differences were elicited between right- and left-sided repairs in complications (9/29 vs. 1/6, p = 0.64) and death rates (2/29 vs. 0/6, p = 0.57), unique anatomic complications – such as injury to the RAA covering the esophagus and intractable bleeding – associated with mortality were revealed in the right thoracotomy group. Left-sided repairs following failed repair through the right showed higher complications rate (3/3) than straightforward right- (9/29) or left-sided repairs (1/6) (p = 0.024). Right thoracotomies converted to left thoracotomies led to staged repairs more frequently (4/9) than straightforward right (5/38) or left thoracotomies (0/6) (p = 0.03). ConclusionsThere is not enough evidence to support that right thoracotomy, characterized by unique surgicoanatomic difficulties, is equivalent to left thoracotomy for EA/TEF with RAA. Both approaches might be required, and, therefore, surgeons should be familiarized with surgical anatomy of mediastinum approached from right and left.Systematic review, Level of Evidence III.

Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing

Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex and is essential for the activation of the DNA repair pathway. The middle region (amino acids 674–1208) of FANCA is required for its interaction with FAAP20. We performed targeted sequencing of this binding region of FANCA (exons 23–36) in 40 EA/TEF patients. We also investigated the effect of the p.A958V mutation on the protein–protein interaction between FANCA and FAAP20 using an in vitro binding assay and co-immunoprecipitation. Immunolocalization analysis was performed to investigate the subcellular localization of FANCA, and tissue sections and immunohistochemistry were used to explore the expression of FANCA. We identified four rare missense variants in the FANCA binding region. FANCA mutations were significantly overrepresented in EA/TEF patients compared with 4300 control subjects from the NHLBI-ESP project (Fisher's exact p = 2.17 × 10−5, odds ratio = 31.75). p.A958V, a novel de novo mutation in the FANCA gene, was identified in one patient with EA/TEF. We provide further evidence that the p.A958V mutation reduces the binding affinity of FANCA for FAAP20. Interestingly, the p.A958V mutation impaired the nuclear localization of the FANCA protein expressed in HeLa cells. We found that FANCA was more highly expressed in stratified squamous epithelium than in smooth muscle. In conclusion, mutations in the FANCA gene are associated with EA/TEF in humans.

Oral feeding outcomes in infants with esophageal atresia and tracheoesophageal fistula.

The purpose of this study was to explore oral feeding outcomes in infants born with type-C esophageal atresia and tracheoesophageal fistula (EA/TEF). A retrospective cohort study of all infants born between January 2005 and December 2015 undergoing surgery for type-C EA/TEF at the University of Alberta Hospital was performed. Fifty-seven infants were identified, of which 61.4% were exclusively orally feeding at discharge home. Variables anticipated to predict oral feeding were explored. Only 46% of babies with a structural cardiac anomaly had exclusive oral feeding compared to 79% without cardiac anomaly, p=0.055. Logistic regression identified the presence of structural cardiac anomaly and corrected gestational age at discharge as significant negative predictor variables for exclusive oral feeding at discharge home. Additional regression analyses found early transanastomotic feeding to be a significant positive predictor for the discontinuation of PN. We report the rate of oral feeding at discharge for infants born with type-C EA/TEF and identify predictor variables. This information is important for health care professionals and the families of children born with EA/TEF, because a significant number will go home with supplemental nutrition by gavage tube or other routes. Level 2.

Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula

BackgroundLong-term dysphagia occurs in up to 50% of repaired esophageal atresia and tracheoesophageal fistula (EA/TEF) patients. The underlying factors are unclear and may include stricture, esophageal dysmotility, or associated anomalies. Our purpose was to determine whether structural airway abnormalities (SAA) are associated with dysphagia in EA/TEF. MethodsWe conducted a retrospective chart review of children who underwent EA/TEF repair in our hospital system from 2007 to 2016. Children with identified SAA (oropharyngeal abnormalities, laryngeal clefts, laryngomalacia, vocal cord paralysis, and tracheomalacia) were compared to those without airway abnormalities. Dysphagia outcomes were determined by the need for tube feeding and the modified pediatric Functional Oral Intake Scale (FOIS) at 1 year. ResultsSAA was diagnosed in 55/145 (37.9%) patients with EA/TEF. Oropharyngeal aspiration was more common in children with SAA (58.3% vs. 36.4%, p=0.028). Children with SAA were more likely to require tube feeding both at discharge (79.6% vs. 48.3%, p<0.001) and at 1 year (52.7% vs. 13.6%, p<0.001) and had lower mean FOIS (4.18 vs. 6.21, p<0.001). In the logistic regression model adjusting for gestational age, long gap EA, and esophageal stricture, the presence of SAA remained a significant risk factor for dysphagia (OR 4.17 (95% CI 1.58–11.03)). ConclusionSAA are common in children with EA/TEF and are associated with dysphagia, even after accounting for gestational age, esophageal gap and stricture. This study highlights the need for a multidisciplinary approach, including early laryngoscopy and bronchoscopy, in the evaluation of the EA/TEF child with dysphagia. Level of evidenceLevel II retrospective prognostic study

Challenging surgical dogma in the management of proximal esophageal atresia with distal tracheoesophageal fistula: Outcomes from the Midwest Pediatric Surgery Consortium

PurposePerioperative management of infants with esophageal atresia and tracheoesophageal fistula (EA/TEF) is frequently based on surgeon experience and dogma rather than evidence-based guidelines. This study examines whether commonly perceived important aspects of practice affect outcome in a contemporary multi-institutional cohort of patients undergoing primary repair for the most common type of esophageal atresia anomaly, proximal EA with distal TEF. MethodsThe Midwest Pediatric Surgery Consortium conducted a multicenter, retrospective study examining selected outcomes on infants diagnosed with proximal EA with distal TEF who underwent primary repair over a 5-year period (2009–2014), with a minimum 1-year follow up, across 11 centers. Results292 patients with proximal EA and distal TEF who underwent primary repair were reviewed. The overall mortality was 6% and was significantly associated with the presence of congenital heart disease (OR 4.82, p=0.005). Postoperative complications occurred in 181 (62%) infants, including: anastomotic stricture requiring intervention (n=127; 43%); anastomotic leak (n=54; 18%); recurrent fistula (n=15; 5%); vocal cord paralysis/paresis (n=14; 5%); and esophageal dehiscence (n=5; 2%). Placement of a transanastomotic tube was associated with an increase in esophageal stricture formation (OR 2.2, p=0.01). Acid suppression was not associated with altered rates of stricture, leak or pneumonia (all p>0.1). Placement of interposing prosthetic material between the esophageal and tracheal suture lines was associated with an increased leak rate (OR 4.7, p<0.001), but no difference in the incidence of recurrent fistula (p=0.3). Empiric postoperative antibiotics for >24h were used in 193 patients (66%) with no difference in rates of infection, shock or death when compared to antibiotic use ≤24h (all p>0.3). Hospital volume was not associated with postoperative complication rates (p>0.08). Routine postoperative esophagram obtained on day 5 resulted in no delayed/missed anastomotic leaks or a difference in anastomotic leak rate as compared to esophagrams obtained on day 7. ConclusionMorbidity after primary repair of proximal EA and distal TEF patients is substantial, and many common practices do not appear to reduce complications. Specifically, this large retrospective series does not support the use of prophylactic antibiotics beyond 24h and empiric acid suppression may not prevent complications. Use of a transanastomotic tube was associated with higher rates of stricture, and interposition of prosthetic material was associated with higher leak rates. Routine postoperative esophagram can be safely obtained on day 5 resulting in earlier initiation of oral feeds. Study typeTreatment study. Level of evidenceIII.

Effect of Swallowing Rehabilitation Protocol on Swallowing Function in Patients with Esophageal Atresia and/or Tracheoesophageal Fistula.

Aim The aim of this study was to evaluate the results of Swallowing Rehabilitation Protocol (SRP) on swallowing function (SF) of esophageal atresia and tracheoesophageal fistula (EA-TEF) patients with pharyngeal swallowing disorder. Materials and Methods In this study, 24 children with EA-TEF who had deglutitive and respiratory problems were grouped into either study (n = 12) or control group (n = 12) by basic randomization. Study group received the SRP including neuromuscular electrical stimulation, thermal tactile stimulation, and hyolaryngeal mobilization. The control group received nonnutritive stimulations. SF was evaluated with 3 mL liquid and pudding barium by videofluoroscopic swallowing study (VFSS) before and after 20 sessions of interventions. Results No statistical differences were found between groups in terms of descriptive characteristics including age, sex, weight, height, type of atresia, repair type, repair time, and start time of oral intake (p > 0.05). There were no statistical differences between groups in term of swallowing parameters (p > 0.05), except reflux (p = 0.004) according to VFSS findings. After 20 sessions of interventions, the study group showed improvement in penetration-aspiration scale scores, oral phase dysfunction, delay in swallowing reflex, and residue in valleculae and pyriform sinuses after pudding swallow. The control group showed improvement only in oral phase dysfunction. Conclusion SRP can be recommended to improve SF in patients with EA/TEF who have pharyngeal swallowing disorders.