Search

Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. Material and methods: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. Results: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11–30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. Conclusions: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. Level of Evidence: V.

INTRODUCTION Improvements in technology and health care have helped reduce morbidity and mortality in patients with esophageal atresia. However, postoperative complications such as dehiscences, strictures, and recurrent fistulas still occur in a large percentage of patients. Here, we present our initial experience using the thoracoscopic approach for complications after esophageal atresia repair. METHODS We retrospectively analyzed the medical records of patients who developed complications after esophageal atresia repair and underwent thoracoscopic reoperation at two centers. Anastomotic leakage, anastomotic stricture, and recurrent tracheoesophageal fistula were assessed as complications after esophageal atresia repair. RESULTS We reoperated on four patients (range of age 3 days - 2 years) by thoracoscopy. Two patients who had undergone thoracoscopic atresia repair presented with anastomotic dehiscence. The anastomoses were thoracoscopically reconstructed without tension. One patient had undergone thoracoscopic atresia repair presented with esophageal stricture refractory to endoscopic dilatations. Thoracoscopic esophagoesophagostomy was performed in this 2-year-old patient. One patient who had undergone esophageal atresia repair and tracheoesophageal fistula closure by thoracotomy presented with a recurrent fistula at 1 year of age. The patient underwent thoracoscopic fistula closure with a 5-mm endostapler. All patients remain asymptomatic after reoperation. CONCLUSIONS Reoperation after esophageal atresia repair is challenging and carries a relatively high risk of developing complications. Compared to conventional surgery, the thoracoscopic approach in experienced hands offers better visualization and more accurate dissection and drainage of the thoracic cavity. Therefore, we want to encourage the use of thoracoscopy in the treatment of complications after esophageal atresia repair.

Introduction: Although laparoscopic inguinal hernia repair in children has gained popularity in the last decades, this approach remains uncommon in preterm infants. The aim of this study w...

Anastomosis stricture is a well-known complication after esophageal atresia repair. Endoscopic dilatation is the gold standard treatment for esophageal stenosis. However, surgical interventions are indicated for refractory cases. We present a 2-year-old girl with esophageal stricture refractory to regular endoscopic dilatation after esophageal atresia repair that underwent thoracoscopic stricture resection and reanastomosis. Although thoracoscopic approach is widely used for esophageal atresia repair, this approach has not been used before for the treatment of anastomosis stricture.

Objective: To investigate how symptoms vary according to the appendiceal position in pediatric patients and to demonstrate that the laparoscopic approach is safe and effective in any appendiceal location by comparing each location to another. Methods: The medical records of 1,736 children aged 14 or younger who underwent laparoscopic appendectomy over a period of 14 years were analyzed retrospectively. Patients were divided according to the position of the appendiceal tip into four groups: anterior, pelvic, retrocecal and subhepatic. The Kruskal-Wallis and chi-square tests were used with the Bonferroni correction, with a significant p

Introduction: The use of staples to perform intestinal anastomosis in children has gained popularity in the past years. The aim of this study is to evaluate the outcomes of pediatric patients who u...

Introduction Femoral hernia is a rare and often misdiagnosed condition in childhood. The aim of our study was to demonstrate that the laparoscopic approach improves diagnostic accuracy and offers a safe and effective treatment. Methods A retrospective study of 687 pediatric patients who underwent laparoscopic inguinal hernia repair from January 2000 to December 2015 was performed. Results Femoral hernias were identified in 16 patients (2.3%). The right side was affected in 10 cases (62.5%), the left side in 5 (31.2%), and 1 case was bilateral (6.2%). The mean age of patients was 8.00 ± 3.81 years, and there was a male predominance. Preoperative diagnosis was femoral hernia in eight cases (50%) and indirect inguinal hernia in the remaining eight (50%). Seven children (43.8%) presented with hernia recurrence after having undergone an open ipsilateral indirect hernia repair. A modified laparoscopic McVay technique was performed in 12 cases (70.6%). An epigastric artery injury by trocar occurred in one patient. All operations were completed laparoscopically. The mean surgical time was 45.6 ± 22.9 min for unilateral cases and 110 ± 10.0 min for bilateral cases. No immediate postoperative complications were noted. The mean postoperative hospital stay was 0.6 ± 0.4 days. No recurrence was observed after a median follow-up of 11 years (range, 4-16 years). Conclusion Femoral hernia is a rare pathology in pediatric patients that is often difficult to diagnose. The laparoscopic approach is effective in the diagnosing and treating these hernias, and it allows for the simultaneous repair of multiple groin defects.

Superior mesenteric artery syndrome, also known as Wilkie's syndrome, is a rare cause of proximal duodenum obstruction in children. Here, we describe the first pediatric case of superior mesenteric artery syndrome in monozygotic twin brothers. Both patients underwent 3-D laparoscopic duodenojejunostomy at the same age with an uneventful recovery.

Introduction: The diagnosis of indirect inguinal hernia is usually based on clinical grounds. Physical examination generally showed an inguinal bulge. However, when no bulge is seen, the s...

This case report describes an extremely rare association between gallbladder agenesis and choledochal cyst (CC). A 9-year-old girl presented with recurrent abdominal pain in the right upper quadrant. Radiological studies revealed a CC type IVa and an agenesis of gallbladder and cystic duct. Due to the possibility of biliary neoplasm, the patient underwent cyst resection and hepaticoduodenostomy. Histopathological findings showed inflamed fibrous tissue covered by biliary epithelium with no evidence of malignancy.

Recurrent tracheo-oesophageal fistula (TOF) is a common complication in children who underwent oesophageal atresia repair. The traditional surgical approach performed either by thoracotomy or cervicotomy is associated with a high rate of morbidity, mortality and new recurrence. In the last decades, endoscopic techniques have emerged as the minimally invasive alternative. However, it seems that the optimal treatment is still unknown. We present a patient with a recurrent TOF who underwent thoracoscopic closure using a 5.8 mm endostapler. The patient was extubated at the end of the procedure, and he started feeding the day after surgery. At 15 months of follow-up, he is asymptomatic. Thoracoscopic closure of TOF using endostaplers seems to be a safe alternative with some possible benefits compared with traditional and endoscopic approach.

Superior mesenteric artery syndrome, also known as Wilkie's syndrome, is a rare cause of proximal duodenum obstruction in children. Here, we describe the first pediatric case of superior mesenteric artery syndrome in monozygotic twin brothers. Both patients underwent 3-D laparoscopic duodenojejunostomy at the same age with an uneventful recovery.

Subhepatic appendicitis in children is an unusual condition that can be challenging for the pediatric surgeons to treat. The aim of our study was to compare the outcomes of laparoscopic appendectomies based on the position of the appendix.The data of 1736 patients who had undergone laparoscopic appendectomy in our tertiary center were retrospectively reviewed. We compared two groups: subhepatic location (n = 56) and non-subhepatic location (n = 1680). A P-value of less than 0.05 was considered statistically significant.There was no statistically significant difference between the demographic variables of the groups. More than half of the subhepatic appendicitises were gangrenous (44.6%) or perforated (16.1%), whereas most of the non-subhepatic appendicitises were phlegmonous (56.9%). Extracorporeal ligation of the appendix was the preferred technique in both the subhepatic and non-subhepatic groups (69.6% and 89.8%, respectively). The subhepatic group had a statistically significant higher incidence of technical difficulties (1.6%) and abdominal drain (18.6%) than the non-subhepatic group, as well as a longer operative time and hospital stay. However, intraoperative and postoperative complications were similar in both groups.Laparoscopic subhepatic appendectomy is safe and does not lead to increased complications. However, the technique is made difficult by the fact that the appendix is an atypical location, and the rate of complicated appendicitis is higher.

Femoral hernia is a rare and often misdiagnosed condition in childhood. The aim of our study was to demonstrate that the laparoscopic approach improves diagnostic accuracy and offers a safe and effective treatment.A retrospective study of 687 pediatric patients who underwent laparoscopic inguinal hernia repair from January 2000 to December 2015 was performed.Femoral hernias were identified in 16 patients (2.3%). The right side was affected in 10 cases (62.5%), the left side in 5 (31.2%), and 1 case was bilateral (6.2%). The mean age of patients was 8.00 ± 3.81 years, and there was a male predominance. Preoperative diagnosis was femoral hernia in eight cases (50%) and indirect inguinal hernia in the remaining eight (50%). Seven children (43.8%) presented with hernia recurrence after having undergone an open ipsilateral indirect hernia repair. A modified laparoscopic McVay technique was performed in 12 cases (70.6%). An epigastric artery injury by trocar occurred in one patient. All operations were completed laparoscopically. The mean surgical time was 45.6 ± 22.9 min for unilateral cases and 110 ± 10.0 min for bilateral cases. No immediate postoperative complications were noted. The mean postoperative hospital stay was 0.6 ± 0.4 days. No recurrence was observed after a median follow-up of 11 years (range, 4-16 years).Femoral hernia is a rare pathology in pediatric patients that is often difficult to diagnose. The laparoscopic approach is effective in the diagnosing and treating these hernias, and it allows for the simultaneous repair of multiple groin defects.