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International Journal of Pediatric... Mar 2017We compared the postnatal course, morbidity and early results after repair for cases of isolated or "pure" TEF with those for cases of esophageal atresia (EA) with...
PURPOSE
We compared the postnatal course, morbidity and early results after repair for cases of isolated or "pure" TEF with those for cases of esophageal atresia (EA) with distal tracheoesophageal fistula (TEF).
METHODS
Twenty-four consecutive infants were divided into two groups: isolated TEF [TEF group] (n = 5) and EA with distal TEF [EA group] (n = 19).
RESULTS
A high rate of prematurity (29%) and major cardiac and other surgically-relevant malformations (0.8 vs. 0.7 per infant) was found in both groups. The median age at surgery was 8 days for the TEF group vs. 1 day for the EA group (p < 0.01). Most infants of both cohorts had stable acid-base and respiratory parameters at admission. Generally, tracheoscopy provided valuable information regarding the position of the TEF. Surgery for isolated TEF was performed via right cervicotomy in 4 cases and via thoracotomy in one. Postoperative thoracostomy tubes were inserted in 3 cases and one emergency gastrostomy was created for acute gastric overextension (exclusively in patients with EA). The duration of postoperative mechanical ventilation (49 vs. 113 h, p = 0.045) and the median length of stay in the pediatric surgery unit (10 vs. 20.5 days, p = 0.003) were shorter for the isolated TEF group. Four EA patients experienced severe events. Total mortality was 8% (0 out of 5 with TEF vs. 2 out of 19 with EA).
CONCLUSION
Developmental delay and a high rate of morbidity were found in both groups. More complex surgery increased perioperative morbidity in cases of EA. With early recognition of isolated TEF, a less complicated course can be expected in comparison with esophageal atresia.
Topics: Endoscopy; Esophageal Atresia; Female; Gastrostomy; Humans; Infant; Infant, Newborn; Infant, Premature; Male; Morbidity; Postoperative Complications; Thoracostomy; Thoracotomy; Tracheoesophageal Fistula; Treatment Outcome
PubMed: 28166998
DOI: 10.1016/j.ijporl.2017.01.022 -
Journal of Medical Genetics Jul 2006Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases... (Review)
Review
Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (N-MYC), anophthalmia-oesophageal-genital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). Additional support for genetic factors in this malformation comes from chromosomal studies and mouse models. This paper reviews current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageal fistula syndromes and associations.
Topics: Animals; Chromosome Mapping; Disease Models, Animal; Esophageal Atresia; Humans; Mice; Tracheoesophageal Fistula
PubMed: 16299066
DOI: 10.1136/jmg.2005.038158 -
Journal of Cardiothoracic Surgery Jun 2021Oesophageal atresia is a congenital malformation of the oesophagus and a serious malformation of the digestive system, postoperative complications include acute...
BACKGROUND
Oesophageal atresia is a congenital malformation of the oesophagus and a serious malformation of the digestive system, postoperative complications include acute respiratory failure, pneumonia, anastomotic fistula, anastomotic stenosis, tracheal stenosis, gastroesophageal reflux and eosinophilic oesophagitis, anastomotic fistula is one of the important causes of postoperative death. The objective of this study is to identify the risk factors for anastomotic complications after one-stage anastomosis for oesophageal atresia.
METHODS
A retrospective analysis was performed on the clinical data of 107 children with congenital oesophageal atresia who underwent one-stage anastomosis in our hospital from January 2013 to December 2018. Single-factor and multivariate logistic regression analyses were performed to determine the risk factors for anastomotic fistula and anastomotic stenosis.
RESULTS
A total of 107 children with oesophageal atresia underwent one-stage anastomosis, and the incidence of anastomotic fistula was 26.2%. The probability of anastomotic stenosis in the long term was 52.3%, and the incidence of refractory stenosis (dilation ≥5 times) was 13.1%. Analysis of the clinical count data in the anastomotic fistula group and non-anastomotic fistula group showed that preoperative albumin (F = 4.199, P = 0.043), low birth weight (F = 7.668, P = 0.007) and long gap defects (F = 6.107, P = 0.015) were risk factors for postoperative anastomotic fistula. Further multivariate logistic regression analysis showed that low birth weight (Wald2 = 4.499, P = 0.034, OR = 2.775) and long gap defects (Wald2 = 6.769, P = 0.009, OR = 4.939) were independent risk factors for postoperative anastomotic fistula. Premature delivery (F = 5.338, P = 0.023), anastomotic fistula (F = 11.381, P = 0.001), endoscopic surgery (F = 6.343, P = 0.013), preoperative neutrophil count (F = 8.602, P = 0.004), preoperative low albumin (F = 8.410, P = 0.005), and a preoperative prognostic nutritional index < 54 (F = 5.54, P = 0.02) were risk factors for refractory anastomotic stenosis in children. Further multivariate logistic regression analysis showed that postoperative anastomotic fistula (Wald2 = 11.417, P = 0.001, OR = 8.798), endoscopic surgery (Wald2 = 9.633, P = 0.002, OR = 4.808), and a prognostic nutritional index < 54 (Wald2 = 4.540, P = 0.002, OR = 2.3798) were independent risk factors for refractory anastomotic stenosis.
CONCLUSION
Low birth weight and long gap defects are important predictors of postoperative anastomotic fistula, and the possibility of refractory anastomotic stenosis should be considered. The long-term risk of anastomotic stenosis was increased in children undergoing endoscopic surgery and in those with a preoperative prognostic nutritional index < 54.
Topics: Anastomosis, Surgical; Esophageal Atresia; Esophageal Stenosis; Female; Humans; Incidence; Infant; Infant, Low Birth Weight; Infant, Newborn; Logistic Models; Male; Postoperative Complications; Retrospective Studies; Risk Factors; Tracheal Stenosis; Tracheoesophageal Fistula
PubMed: 34147095
DOI: 10.1186/s13019-021-01557-0 -
PloS One 2020Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic...
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic component. Not much is known regarding the biological processes disturbed or which cell type is affected in patients. This hampers the detection of the responsible culprits (genetic or environmental) for the origin of these congenital anatomical malformations. Therefore, we examined gene expression patterns in the TEF and compared them to the patterns in esophageal, tracheal and lung control samples. We studied tissue organization and key proteins using immunohistochemistry. There were clear differences between TEF and control samples. Based on the number of differentially expressed genes as well as histological characteristics, TEFs were most similar to normal esophagus. The BMP-signaling pathway, actin cytoskeleton and extracellular matrix pathways are downregulated in TEF. Genes involved in smooth muscle contraction are overexpressed in TEF compared to esophagus as well as trachea. These enriched pathways indicate myofibroblast activated fibrosis. TEF represents a specific tissue type with large contributions of intestinal smooth muscle cells and neurons. All major cell types present in esophagus are present-albeit often structurally disorganized-in TEF, indicating that its etiology should not be sought in cell fate specification.
Topics: Actin Cytoskeleton; Adult; Bone Morphogenetic Proteins; Esophagus; Extracellular Matrix; Female; Fibrosis; Humans; Lung; Male; Signal Transduction; Trachea; Tracheoesophageal Fistula; Transcriptome
PubMed: 33201890
DOI: 10.1371/journal.pone.0242167 -
Multimedia Manual of Cardiothoracic... 2016Acquired non-malignant tracheo-oesophageal fistula (TOF) most commonly develops after prolonged intubation or tracheostomy. It may also develop after trauma,...
Acquired non-malignant tracheo-oesophageal fistula (TOF) most commonly develops after prolonged intubation or tracheostomy. It may also develop after trauma, oesophagectomy, laryngectomy and other disparate conditions. TOF leads to respiratory compromise secondary to chronic aspiration and pulmonary sepsis. Difficulty with oral intake usually leads to nutritional compromise. After diagnosis, the goals are to eliminate or reduce ongoing pulmonary contamination and to restore proper nutrition. Operative repair of benign TOF is generally performed through a cervical approach. The majority of patients require tracheal resection and reconstruction to address concomitant tracheal or laryngotracheal stenosis. Muscle flap interposition between tracheal and oesophageal repairs reduces the risk of fistula recurrence. Operative repair of the fistula is associated with generally good outcomes with a minimal risk of mortality.
Topics: Humans; Intubation, Intratracheal; Suture Techniques; Tracheal Stenosis; Tracheoesophageal Fistula; Tracheostomy
PubMed: 26933202
DOI: 10.1093/mmcts/mmw002 -
Seminars in Pediatric Surgery Feb 2009Esophageal atresia (OA) and tracheoesophageal fistula (TOF) are important human birth defects of unknown etiology. The embryogenesis of OA/TOF remains poorly understood,...
Esophageal atresia (OA) and tracheoesophageal fistula (TOF) are important human birth defects of unknown etiology. The embryogenesis of OA/TOF remains poorly understood, mirroring the lack of clarity of the mechanisms of normal tracheoesophageal development. The development of rat and mouse models of OA/TOF has allowed the parallel study of both normal and abnormal embryogenesis. Although controversies persist, the fundamental morphogenetic process appears to be a rearrangement of the proximal foregut into separate respiratory (ventral) and gastrointestinal (dorsal) tubes. This process depends on the precise temporal and spatial pattern of expression of a number of foregut patterning genes. Disturbance of this pattern disrupts foregut separation and underlies the development of tracheoesophageal malformations.
Topics: Animals; Disease Models, Animal; Esophageal Atresia; Female; Humans; Mice; Pregnancy; Rats; Tracheoesophageal Fistula
PubMed: 19103415
DOI: 10.1053/j.sempedsurg.2008.10.002 -
Journal of Medicine and Life 2014Tracheoesophageal fistula most commonly occurs as a complication of prolonged tracheal intubation. The incidence decreased after the use of low pressure and high volume...
Tracheoesophageal fistula most commonly occurs as a complication of prolonged tracheal intubation. The incidence decreased after the use of low pressure and high volume endotracheal cuffs, but the intensive care units continue to provide such cases. The abnormal tracheoesophageal communication causes pulmonary contamination (with severe suppuration) and impossibility to feed the patient. The prognosis is reserved, because most patients are debilitated and ventilator dependent, with severe neurological and cardiovascular diseases. The therapeutic options are elected based on respiratory, neurological and nutritional status. The aim of conservative treatment is to stop the contamination (drainage gastrostomy, feeding jejunostomy) and to treat the pulmonary infection and biological deficits. Endoscopic therapies can be tried in cases with surgical contraindication. Operation is addressed to selected cases and consists in the dissolution of the fistula, esophageal suture with or without segmental tracheal resection associated. Esophageal diversion is rarely required. The correct indication and timing of surgery, proper surgical technique and postoperative care are prerequisites for adequate results.
Topics: Endoscopy; Humans; Intubation, Intratracheal; Postoperative Care; Tomography, X-Ray Computed; Trachea; Tracheoesophageal Fistula
PubMed: 25713612
DOI: No ID Found -
Pulmonary Medicine 2022This is a retrospective review of the medical electronic charts of patients with TEF that were followed at Sidra Medicine in the state of Qatar. The review included the...
METHODS
This is a retrospective review of the medical electronic charts of patients with TEF that were followed at Sidra Medicine in the state of Qatar. The review included the patients who were operated upon in the period of 2011-2021 but continued to follow at our institution in the period of 2018-2021. Demographic data, associated anomalies, preoperative, operative, and postoperative courses, and growth parameters were collected.
RESULTS
A total of 35 patients with TEF (24 males and 11 females) were collected. 49% were full term. We identified seven patients (20%) with isolated TEF, TEF with VACTERL association in 29% of our patients, other chromosomal anomalies in 17%, or associated with other anomalies (not related to VACTERL) in 34% of the patients. The majority of the patients (94%) were of type C-TEF (TEF with esophageal atresia-EA/TEF). All patients were operated except for one patient who died at 2 days of life due to cardiac complications. Median age at which surgery was performed was 2 days (range 1-270 days). Median follow-up was 32 months (range 7-115 months). Immediate postoperative complications were encountered in eleven patients (33%) and included anastomosis leak in 12%, air leak in 6%, sepsis in 6%, chylothorax in 3%, vocal cord palsy and fistula recurrence (combined) in 3%, and failure of TEF closure in 3% of the patients. Long-term respiratory complications were encountered in 43% of our patients. Long-term gastrointestinal complications included gastroesophageal reflux (GERD) in 63%, dysphagia in 31%, and anastomotic stricture in 34% of the patients. Growth was affected in around a quarter of the patients at 6 months after surgery and 22% at 12-month assessment postoperatively. While only five patients died at our institution, only one was directly related to failure of TEF closure and postoperative complications.
CONCLUSION
This descriptive study reports the clinical outcome of TEF from a rapidly developing country. The distribution of the patients' characteristics and postoperative complications was almost comparable to those from developed countries. This study would aid in addressing the prognostic factors and establishment of evidence-based management pathways of newborns with TEF to improve the clinical outcome in our center and other pediatric tertiary centers in developing countries.
Topics: Child; Male; Female; Humans; Infant, Newborn; Tracheoesophageal Fistula; Treatment Outcome; Esophageal Atresia; Retrospective Studies; Postoperative Complications
PubMed: 36507120
DOI: 10.1155/2022/6558309 -
Journal of Medical Case Reports Dec 2016The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and... (Review)
Review
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
BACKGROUND
The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome.
CASE PRESENTATION
Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed.
CONCLUSIONS
The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology.
Topics: 46, XX Disorders of Sex Development; Abnormalities, Multiple; Anal Canal; Esophageal Atresia; Esophagus; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Kidney; Limb Deformities, Congenital; Mullerian Ducts; Plastic Surgery Procedures; Spine; Surgically-Created Structures; Trachea; Tracheoesophageal Fistula; Treatment Outcome; Vagina
PubMed: 28003020
DOI: 10.1186/s13256-016-1127-9 -
Current Gastroenterology Reports Jun 2010Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on... (Review)
Review
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.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Environment; Esophageal Atresia; Genetic Diseases, Inborn; Genotype; Humans; Mutation; Phenotype; Syndrome; Tracheoesophageal Fistula
PubMed: 20425471
DOI: 10.1007/s11894-010-0108-1