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  • EUPSA Esophageal Atresia Registry; Morini, Francesco; Conforti, Andrea; Zani, Augusto; Koivusalo, Antti; Bagolan, Pietro (2020)
    Aim:Controversies exist on the optimal diagnostic workup for neonates with esophageal atresia (EA) with/without tracheoesophageal fistula (TEF). Aim of this study was to describe the current diagnostic policies in EA/TEF patients enrolled in an International multicenter registry. Methods:All patients consecutively registered from July 2014 to December 2017 in the EUPSA Esophageal Atresia Registry (EUPSA-EAR) were included in the study. Data related to diagnostic investigations among Centers forming the EUPSA-EAR were analyzed. Main Results:During the study period, 374 consecutive patients were recorded by 23 Centers. The majority of patients underwent chest X-rays, echocardiography, abdominal ultrasound, and abdominal X-rays. Preoperative bronchoscopy and esophageal gap measurement were performed in one third of the patients. Conclusions:Present data from a large cohort of patients from the EUPSA-EAR show both inter-institutional and intra-institutional variability in diagnostic workup of patients with EA/TEF. Efforts should be made to develop guidelines on the diagnostic workup for EA/TEF patients.
  • Rintala, Risto J. (2017)
    Patients with esophageal atresia (EA) suffer from abnormal and permanent esophageal intrinsic and extrinsic innervation that affects severely esophageal motility. The repair of EA also results in esophageal shortening that affects distal esophageal sphincter mechanism. Consequently, gastroesophageal reflux (GER) is common in these patients, overall approximately half of them suffer from symptomatic reflux. GER in EA patients often resists medical therapy and anti-reflux surgery in the form of fundoplication is required. In patients with pure and long gap EA, the barrier mechanisms against reflux are even more damaged, therefore, most of these patients undergo fundoplication during first year of life. Other indications for anti-reflux surgery include recalcitrant anastomotic stenoses and apparent life-threatening episodes. In short term, fundoplication alleviates symptoms in most patients but recurrences are common occurring in at least one third of the patients. Patients with fundoplication wrap failure often require redo surgery, which may be complicated and associated with significant morbidity. A safe option in a subset of patients with failed anti-reflux surgery appears to be long-term medical treatment with proton pump inhibitors.
  • Dang, Kien Xuan; Ho, Tho; Sistonen, Saara; Koivusalo, Antti; Pakarinen, Mikko; Rintala, Risto; Stenman, Ulf-Hakan; Orpana, Arto; Stenman, Jakob (2018)
    Background Previous studies have reported an association among esophageal atresia (EA), Barrett's esophagus, and esophageal adenocarcinoma later in life. Objective The objective of the article is to evaluate KRAS and BRAF mutations as potential genetic markers for early detection of malignant transformation, we used an ultrasensitive technique to detect tissue expression of KRAS and BRAF mutations in endoscopic biopsies from 61 adult patients under follow-up after treatment for EA. Materials and Methods RNA was extracted from 112 fresh-frozen endoscopic tissue biopsies from 61 adult patients treated for EA in early childhood. RNA was reverse transcribed using the extendable blocking probe reverse transcription method. KRAS codons 12 and 13, as well as BRAF mutations were detected by quantitative polymerase chain reaction. Results No mutations of KRAS codon 12, KRAS codon 13, or BRAF were found in 112 endoscopic biopsy samples from 61 patients. Conclusion Despite the presence of histological findings indicating long-standing gastroesophageal reflux in 25%, as well as symptomatic gastroesophageal reflux in more than 40%, there was no detectable tissue expression of KRAS or BRAF mutations in this cohort of patients.
  • Koivusalo, Antti I.; Rintala, Risto J.; Pakarinen, Mikko P. (2018)
    Aim of the study: Conservative management of gastrooesophageal reflux (GORD) in oesophageal atresia (OA) is sometimes inefficient, and fundoplication is required. We assessed the outcomes of fundoplication among OA patients from 1980 to 2016. Methods: After ethical consent, hospital records of 290 patients, including 22 referred patients, were reviewed. Included were 262 patients with end-to-end repair. Excluded were patients who underwent oesophageal reconstruction (n = 23) or no repair (n = 5). Primary outcome measures included survival, retaining the native oesophagus, resolution of GGORD symptoms, failure of fundoplication, and long-term endoscopic results. Main results: Gross types of OA in 262 patients were A (n = 12), B (n = 2), C (n = 217), D (n = 10), E (n = 19), and F (n = 2). Eighty-six (33%) patients, type A (n = 12, 100%), B (n = 2, 100%), C (n = 69, 31%), D (n = 3, 30%), and F (n = 1, 50%), underwent fundoplication at the median age of 5.4 (IQR 3.1-16) months. Main indications included recalcitrant anastomotic stenosis (RAS) in 41 (48%), respiratory symptoms in 16 (19%), and acute life threatening events (ALTE) in 15 (17%) of patients. Associated tracheomalacia in 25 (29%) patients were treated with aortopexy. Median follow-up was 7.5 (IQR 1.8-15) years. RAS resolved in 30 (73%) patients, whereas 11 (27%) with unresolved RAS underwent oesophageal resection (n = 8) or replacement (n = 3). Six (7%) patients died of heart failure (n = 4), bolus impaction (n = 1), and ALTE (n = 1). Fundoplication failed in 27 (31%) patients, and 13 (15%) underwent redo fundoplication. Fundoplication failure was predicted by long-gap OA RR = 3.8 (95% CI = 1.1-13), P = 0.04. In total GORD associated symptoms persisted in 7 (8%) patients, including one with permanent feeding jejunostomy. Latest endoscopy showed moderate or severe oesophagitis in 7% of fundoplicated and in 3% nonfundoplicated patients and intestinal metaplasia in 3% and 1% (p = 0.20-0.29). Conclusion: Fundoplication provided a safe and relatively effective control of OA associated symptomatic GORD and oesophagitis. The failure rate of fundoplication was high in those with long-gap OA. Type of study: Treatment study. Level of evidence: IV (C) 2017 Elsevier Inc. All rights reserved.
  • Stadil, Tatjana; Koivusalo, Antti; Svensson, Jan F.; Jönsson, Linus; Lilja, Helene Engstrand; Thorup, Jørgen Mogens; Sæter, Thorstein; Stenström, Pernilla; Qvist, Niels (2019)
    Background The surgical repair of long-gap esophageal atresia (LGEA) is still a challenge and there is no consensus on the preferred method of reconstruction. We performed a systematic review of the surgical treatment of LGEA Gross type A and B with the primary aim to compare the postoperative complications related to the different methods within the first postoperative year. Methods Systematic literature review on the surgical repair of LGEA Gross type A and B within the first year of life published from January 01, 1996 to November 01, 2016. Results We included 57 articles involving a total of 326 patients of whom 289 had a Gross type A LGEA. Delayed primary anastomosis (DPA) was the most applied surgical method (68.4%) in both types, followed by gastric pull-up (GPU) (8.3%). Anastomotic stricture (53.7%), gastro-esophageal reflux (GER) (32.2%) and anastomotic leakage (22.7%) were the most common postoperative complications, with stricture and GER occurring more often after DPA (61.9% and 40.8% respectively) compared to other methods (p