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This study aimed at evaluating how transition of care is currently being organized in the European Reference Networks (ERNs) health care providers (HCPs) in pediatric areas and in the Anorectal Malformation Network (ARM-Net) Consortium hospitals. An online questionnaire was sent to a total of 80 surgeons, members of or affiliated members of three networks: ARM-Net Consortium, ERN eUROGEN, and ERN ERNICA. Complete information were obtained for 45 HCPs, most of which deal with transition and still see a few adult patients (ca. 10%). Gynecological, gastroenterological, urological, colorectal, and continence issues were the major problems described by adult patients to their physicians, and in line with these prevalent complaints, they are referred to the appropriate adult specialists. Forty percent of patients complain about sexual and fertility problems, but the percentage of andrologists and sexologists involved in the caring of adult patients with ARM/Hirschsprung's disease is low, just above 10.9%. Most hospitals deal with transition, but three basic criteria (i.e., presence of: [1] an official written transitional program, [2] a transitional coordinator, and [3] written information on transition to be handled to patients) are jointly met only by six HCPs. According to the responders, the most important issue requiring improvement is the lack of interest and of specific preparation by adult specialists. The overall results of this exploratory survey confirm the need for the development of comprehensive programs for transition in these rare and complex diseases, and identify the hospitals that, in collaboration with the networks, could share best practices in organizing structured transitional pathways and well follow-ups.

Introduction To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement. Materials and Methods We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed. Results Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days–27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%). Conclusion Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists.

Background – Robotic surgery has been increasingly applied to Hirschsprung patients with encouraging results. We report the results of a 5-year unicentric experience. Materials and methods - All consecutive HSCR patients older than 12 months who underwent a surgical procedure with robotic approach between September 2017 and August 2022 were prospectively included. We collected data regarding demographics, extent of aganglionosis, associated anomalies, indications to surgery, and a number of perioperative data such as surgical details, intraoperative and perioperative complications, length of surgery, length of hospital stay, and functional outcome. Results - A total of 28 patients underwent 31 robotic procedures during the study period. Median age at surgery was 82 months. Eleven primary Totally Robotic Soave Pull-Through, 12 redoes, 5 innervative mapping, 2 redundant rectal pouch excision and 1 Miles’ procedures have been performed. Median console time was 145 minutes. No conversion to either laparoscopy nor to laparotomy was required. Median length of hospital stay was 6 days. Two patients experienced complications requiring reiterative surgery. One patient experienced mild postoperative enterocolitis. Normal continence was achieved by 70% of patients after a median of 16 months postoperatively (80% for primary pull-throughs, 55% for redoes). Conclusions - To conclude, robotic surgery for older HSCR patients proved to be feasible, safe, and effective. Patients with complex surgical requirements seem to benefit most from this promising approach. Provided the economic burden is addressed and solved, robotic surgery will represent an excellent alternative for the surgical treatment of HSCR to serve the best for our patients.

Introduction This article assesses (1) access to splenic embolization (SE), (2) indications for SE, and (3) post-embolization management in high-grade splenic trauma in children. Materials and Methods An online questionnaire was sent in 2021 to all members of European Pediatric Surgeons' Association. Results There were a total of 157 responses (50 countries, 83% academic hospitals). Among them, 68% have access to SE (SE) and 32% do not (nSE). For a hemodynamic stable patient with high-grade isolated splenic trauma without contrast extravasation (CE) on computed tomography (CT) scan, 99% SE and 95% nSE respondents use nonoperative management (NOM). In cases with CE, NOM decreases to 50% (p = 0.01) and 51% (p = 0.007) in SE and nSE centers, respectively. SE respondents report a significant reduction of NOM in stable patients with an associated spine injury requiring urgent surgery in prone position, both without and with CE (90 and 28%, respectively). For these respondents, in stable patients the association of a femur fracture only tends to decrease the NOM, both without and with CE (93 and 39%, respectively). There was no significant difference in NOM in group nSE with associated injuries with or without CE. After proximal SE with preserved spleen vascularization on ultrasound Doppler, 44% respondents prescribe antibiotics and/or immunizations. Conclusion Two-thirds of respondents have access to SE. For SE respondents, SE is used even in stable patients when CE showed on initial CT scan and its use increased with the concomitant need for spinal surgery. There is currently a variation in the use of SE and antibiotics/immunizations following SE.

Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal pseudo-obstruction, either congenital or late-onset visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Here we report about ten pediatric and one adult patients, from nine families, carrying ACTG2 variants: four show novel still unpublished missense variants, including one that is apparently transmitted according to a recessive mode of inheritance. Four of the remaining five probands carry variants affecting arginine residues, that have already been associated with a severe phenotype. A de novo occurrence of the variants could be confirmed in six of these families. Since a genotype-phenotype correlation is affected by extrinsic factors, such as, diagnosis delay, quality of clinical management, and intra-familial variability, we have undertaken 3D molecular modeling to get further insights into the effects of the variants here described. The present findings and further ACTG2 testing of patients presenting with intestinal pseudo-obstruction, will improve our understanding of visceral myopathies, including implications in the prognosis and genetic counseling of this set of severe disorders.

Aim To evaluate the practice patterns of the European Pediatric Surgeons' Association (EUPSA) members regarding the management of primary spontaneous pneumothorax (PSP) in children. Methods An online survey was distributed to all members of EUPSA. Results In total, 131 members from 44 countries participated in the survey. Interventional approach (78%) is the most common choice of treatment in the first episode, and most commonly, chest tube insertion (71%) is performed. In the case of a respiratory stable patient, 60% of the responders insert chest tubes if the pneumothorax is more than 2 cm. While 49% of surgeons prefer surgical intervention in the second episode, 42% still prefer chest tube insertion. Main indications for surgical treatment were the presence of bullae more than 2 cm (77%), and recurrent pneumothorax (76%). Eighty-four percent of surgeons prefer thoracoscopy and perform excision of bullae with safe margins (91%). To prevent recurrences, 54% of surgeons perform surgical pleurodesis with pleural abrasion (55%) and partial pleurectomy (22%). The responders who perform thoracoscopy use more surgical pleurodesis and prefer shorter chest tube duration than the surgeons performing open surgery (p Conclusion Most of the responders prefer chest tube insertion in the management of first episode of PSP and perform surgical treatment in the second episode in case of underlying bullae more than 2 cm and recurrent pneumothorax. The surgeons performing thoracoscopy use more surgical pleurodesis and prefer shorter chest tube duration than the responders performing open surgery. The development of evidence-based guidelines may help standardize care and improve outcomes in children with PSP.

Background: Laparoscopic partial splenectomy is a surgical option for removing part of the spleen with a pathological mass in a way that ensures preservation of the spleen's physiological functions. We aimed to evaluate the efficacy and feasibility of this procedure, performed while preserving the blood supply from the left gastroepiploic artery, in children. Materials and Methods: Following institutional review board approval, this retrospective study was conducted on patients who, between January 2015 and December 2019, underwent laparoscopic partial splenectomy with preservation of blood supply from the left gastroepiploic vessels. In the article, we described patient indications for surgery, surgical technique, surgery time, complications, and follow-up outcomes. Results: Eleven patients (mean age: 12.3 ± 3.4 years) underwent laparoscopic partial splenectomy. Indications for surgery included nonparasitic cysts (n = 8), pseudocysts (n = 2), and hamartomas (n = 1). The mean benign mass diameter was 60 ± 22 mm. The mean operative time was 193.2 ± 55.1 minutes. The mean size of the retained lower pole was 31.1% ± 3.8%. There was no conversion to open splenectomy or any significant complication. The mean postoperative stay was 9 ± 0.7 days. No thrombosis of the splenic and portal veins was noted in the follow-up period, and no splenic remnant infarction occurred. Conclusions: Laparoscopic partial splenectomy with preservation of blood supply arising from the left gastroepiploic vessels seems to be safe in children. However, a larger study is needed to confirm our results.

Hirschsprung disease (HSCR) is a congenital anomaly of the enteric nervous system. Abnormal microbiome composition was reported in HSCR patients. In this study, we addressed and analyzed microbiome modifications with relation tosurgery and HSCR associated enterocolitis (HAEC). The faecal microbiome of 31 HSCR patients (overall 64 samples) was analyzed. HAEC was diagnosed and classified according to a combination of Pastor’s and Elhalabi’s criteria. Stool samples were analyzed by 16S sequencing (7 out of 9 polymorphic regions). Compositional and relative abundance profiles, as well as the functional potentials of the microbial community, were analyzed with the marker gene sequencing profiles using PICRUSt. The relative abundance of Bacteroidetes showed a severe decrease with slow recovery after surgery. Conversely, Proteobacteria transiently increased their abundance. Noteworthy, a strong linkage has been found between Proteobacteria descendants and HAEC occurrences. The inferred functional analysis indicated that virulence factors and fimbriae or pili might be associated with HAEC. Our study, addressing microbiome dynamics, demonstrated relevant changes after surgical manipulation. Alpha-diversity analyses indicated that surgery deeply affects microbiome composition. Proteobacteria and Enterobacteriaceae seem to play a pivotal role in HAEC occurrences. Several virulence factors, such as fimbriae or pili, might explain the HAEC-predisposing potential of selected microbiomes. These results suggest some innovative therapeutic approaches that deserve to be tested in appropriate clinical trials.

Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis caused by impairment of immune system, barrier defense, and microbiome, likely related to genetic causes. No gene has been claimed to contribute to HAEC occurrence, yet. Genetic investigation of HAEC by Whole-Exome Sequencing (WES) on 24 HSCR patients affected (HAEC) or not affected (HSCR-only) by enterocolitis and replication of results on a larger panel of patients allowed the identification of the HAEC susceptibility variant p.H187Q in the Oncostatin-M receptor (OSMR) gene (14.6% in HAEC and 5.1% in HSCR-only, p = 0.0024). Proteomic analysis on the lymphoblastoid cell lines from one HAEC patient homozygote for this variant and one HAEC patient not carrying the variant revealed two well distinct clusters of proteins significantly up or downregulated upon OSM stimulation. A marked enrichment in immune response pathways (q &lt, 0.0001) was shown in the HAEC H187 cell line, while proteins upregulated in the HAEC Q187 lymphoblasts sustained pathways likely involved in pathogen infection and inflammation. In conclusion, OSMR p.H187Q is an HAEC susceptibility variant and perturbates the downstream signaling cascade necessary for the gut immune response and homeostasis maintenance.

Congenital anomalies of the kidney and urinary tract (CAKUT) have been underestimated in Hirschsprung disease (HSCR). This paper aims at reporting results of patients with HSCR who underwent kidney and urinary tract assessment. Patients seen between December 2005 and November 2020 underwent a complete kidney and urinary tract diagnostic workup. Data regarding CAKUT, gender, length of aganglionosis, familial history, HSCR-associated enterocolitis (HAEC), RET genotype, and outcome were collected. Out of 472 patients, 280 completed the workup and represented the focus. Male to female ratio was 3.24:1. Familial cases accounted for 9.8% of patients. RET mutations were detected in 19.8%. We encountered a total of 61 patients with 70 nephrological issues (21.8%), including 28 hypoplasia/dysplasia, 12 hydronephrosis, 11 vesicoureteric reflux, 7 duplex collecting system, 2 kidney agenesis, 2 horseshoe kidney, and 8 miscellanea, involving 91 kidneys without side preponderance (50 right, 41 left). Of these 61 patients, 20 (7.1% of the whole series) required medical or surgical treatment. When comparing patients with and without CAKUT, familial history proved to occur with a significantly lower frequency in the former as did better patient perspectives of outcome. We confirmed that all diagnostic workups in HSCR should include a complete kidney and urinary tract diagnostic workup. Our study suggests that genes other than RET could play a role in determining CAKUT. Given worse patient perspectives of outcome, CAKUT seems to significantly interfere with quality of life thus confirming the need for early diagnosis and tailored prevention strategies.

Introduction The aim of this study was to assess the management of short-bowel syndrome (SBS) at the time of primary surgery, and the strategies used to facilitate enteral autonomy depending on the institutional expertise.Materials and Methods An online questionnaire was sent in 2019 to members of The European Pediatric Surgeons' Association.Results Among the 65 responding members (26 countries, 85% from university hospitals), 57% manage less than three new patients with SBS per year (group A), and 43% at least three patients (group B). The cut-off of three patients treated yearly used in our study was defined after statistical analysis of different cut-offs. A multidisciplinary intestinal rehabilitation program is significantly more frequent in group B than in group A (85 and 53%, respectively; p = 0.009). Considering the primary surgical management of multiple intestinal atresia and congenital ultra-short bowel with jejunal atresia, primary surgical strategies to optimize bowel length are more often used in group B than group A (p = 0.09 and p = 0.04, respectively). A minimum of one intestinal lengthening procedure every 2 to 3 years is significantly more frequent in group B than group A (95 and 45%, respectively; p = 0.0013). Among the strategies used to promote intestinal adaptation, group B (35%) uses significantly more often glucagon-like peptide 2 analogs than group A (10%) (p = 0.02).Conclusion Based on our survey, a minimum number of SBS patients treated yearly is required to manage this challenging disease according to up-to-date medical and surgical strategies. However, whatever their level of expertise is in managing SBS, most of pediatric surgeons are involved in the primary surgery. Medical education programs about SBS should be more largely available to pediatric surgeons.

Introduction: To reoperate a patient with Hirschsprung disease (HSCR) can be technically demanding and most surgeons would resort to conventional laparotomy. This article describes a series of pati...

Background: Subcutaneously anchored securement devices (or subcutaneous engineered securement devices) have been introduced recently into the clinical practice, but the number of published studies is still scarce. The Italian Group of Long-Term Central Venous Access Devices (GAVeCeLT)—in collaboration with WoCoVA (World Congress on Vascular Access)—has developed a Consensus about the effectiveness, safety, and cost-effectiveness of such devices. Methods: After the definition of a panel of experts, a systematic collection and review of the literature on subcutaneously anchored securement devices was performed. The panel has been divided in two working groups, one focusing on adult patients and the other on children and neonates. Results: Although the quality of evidence is generally poor, since it is based mainly on non-controlled prospective studies, the panel has concluded that subcutaneously anchored securement devices are overall effective in reducing the risk of dislodgment and they appear to be safe in all categories of patients, being associated only with rare and negligible local adverse effects; cost-effectiveness is demonstrated—or highly likely—in specific populations of patients with long-term venous access and/or at high risk of dislodgment. Conclusion: Subcutaneously anchored securement is a very promising strategy for avoiding dislodgment. Further studies are warranted, in particular for the purpose of defining (a) the best management of the anchoring device so to avoid local problems, (b) the patient populations in which it may be considered highly cost-effective and even mandatory, (c) the possible benefit in terms of reduction of other catheter-related complications such as venous thrombosis and/or infection, and—last but not least—(d) their impact on the workload and stress level of nurses taking care of the devices.

INTRODUCTION – During Covid-19 pandemic, some elective non-deferrable surgical procedures has been maintained on a local basis to avoid complications of time-dependent issues. The aim of this paper is to suggest a possible strategy for the management of patients with Hirschsprung (HSCR) during this dramatic Covid-19 pandemic considering.MATERIALS AND METHODS - A systematic literature search on PubMed and Embase of all available literature addressing “Hirschsprung”, “preoperative enterocolitis”, “preoperative mortality”, “complications”, and “timing” in all possible combination has been performed limiting documents to the last 10 years and excluding non-English papers.RESULTS – Systematic review assessed 170 papers and focused on 10 full-text papers addressing the same issues as above. The incidence of preoperative HAEC proved to be as high as 34% with a mortality between 2.4% and 8%. Age at surgery varied in literature reports but recent evidences suggested that patients should be operated around 3 months of age after effective bowel decompression. Rectal irrigations should not be continued over 2 to 4 months to avoid nutritional issues and subsequent possible increase of surgical complications.CONCLUSIONS – Based on available literature, contingent shortage of health resources and necessity to avoid hospital overcrowding during this pandemic, we suggest as follows: 1) surgery should be delayed for healthy neonates up to 3 months of age, and a diverting enterostomy consider for those with ultralong HSCR, unwell or with ineffective nursing; 2) surgery can be delayed but rectal irrigations cannot be maintained indefinitely (ideally within 2 to 4 months at maximum); 3) Surgery could be postponed in older patients, provided previous bouts of HAEC are excluded. This chosen behaviour of our Center for Digestive Diseases aims at avoiding risk of complication and serve the best for our patients in this delicate setting of Covid-19 pandemic.

Background The GAS study is an international RCT to evaluate neurodevelopmental outcome comparing general plus regional anesthesia versus regional anesthesia alone in 722 neonates and infants who had inguinal hernia repair up to 60 weeks of postmenstrual age. This paper comprises a secondary descriptive analysis of hernias, aspects of surgery and outcomes. Methods The incidence of unilateral and bilateral hernias, side preponderance, predictive factors for bilateral hernias and surgical approaches were collated. Follow-up outcome data were examined at 2 years. Results Of 711 eligible patients, there were 679 with hernia data showing that 321 hernias were right-sided, 190 left and 168 bilateral. Male to female ratio was 5:1. Of those with unilateral hernias, 25.8% underwent contralateral exploration and in these cases a patent processus vaginalis was found in 68.9%. Bilateral hernias were more common in younger and female patients. At 2 years there was a recurrence rate of 0.99% and in 2.7% of patients a hernia was evident on the contralateral side (metachrony), and this was unrelated to the anesthesia technique. Conclusions Bilateral hernias are associated with lower gestational age at birth and female gender. There was a low incidence of complications and the anesthesia technique did not affect surgical outcome. Level of evidence Level 1 evidence from prospective treatment study.

BACKGROUND: Pilonidal disease is a troublesome acquired condition for whom various surgical treatments have been proposed with relatively high recurrence and complication rates. Since EPSiT technique has been described in 2013, it became an alternative treatment in adult practice. Our study reports the results of a multicentre series of pediatric patients who underwent EPSiT procedure over a 21-month period. METHODS: Between July 2015 and March 2017, all consecutive patients undergoing EPSiT in four different pediatric surgical units have been enrolled. Details regarding demographic data, detailed surgical procedure, outcome and complications have been recorded. RESULTS: A total of 43 patients underwent EPSiT procedure. Mean age was 15 years. There was a slight female preponderance. Mean weight and height at surgery were 67 kg and 168 cm, respectively. In 14% of cases a previous ineffective procedure was performed. Mean length of procedure was 34 min and median hospital stay was 24 h (12-72 h). Median length of follow-up was 4 months (range 3-18 months). Complications leading to reoperation were reported in 9% of cases with an overall resolution rate of 88%. DISCUSSION: EPSiT proved to be feasible and safe even in the pediatric population. The effectiveness and safety of the procedure suggest that this technique can represent a valid alternative for the treatment of pilonidal disease in children.

HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral. HSCR associated CCHS can present in patients carrying PHOX2B mutations. Indeed, RET expression is orchestrated by different transcriptional factors among which PHOX2B, thus suggesting its possible role in HSCR pathogenesis. Following the observation of HSCR patients carrying in frame trinucleotide deletions within the polyalanine stretch in exon 3 (polyA contractions), we have verified the hypothesis that these PHOX2B variants do reduce its transcriptional activity, likely resulting in a down-regulation of RET expression and, consequently, favouring the development of the HSCR phenotype. Using proper reporter constructs, we show here that the in vitro transactivation of the RET promoter by different HSCR-associated PHOX2B polyA variants has resulted significantly lower compared to the effect of PHOX2B wild type protein. In particular, polyA contractions do induce a reduced transactivation of the RET promoter, milder compared to the severe polyA expansions associated with CCHS+HSCR, and correlated with the length of the deleted trait, with a more pronounced effect when contractions are larger.

Hirschsprung disease is a congenital disease characterized by intestinal aganglionosis of various extents. Most patients are younger than 1 year of age. Though, a minority of cases can be older or even adult. Older the patient the more difficult and prolonged is the endorectal dissection required for the pull-through procedure. Longer surgery leads to longer anal dilatation and trauma with subsequent higher likelihood of continence impairment. The article aims at describing the first case series of robot-assisted Soave procedure, which was adopted as an alternative minimally invasive approach to older patients with Hirschsprung disease. The technical principles are represented by intraoperative seromuscolar leveling biopsies, intracorporeal endorectal cranial dissection, and endorectal pull-through with colo-anal anastomosis. The authors report three procedures that were carried on without complication with a limited requirement for anal dilatation and trauma, given the reduced need for endorectal caudal dissection. The results demonstrate the feasibility of the proposed approach. The robotic approach should be considered as an alternative minimally invasive approach for older children or adults with Hirschsprung disease.

Introduction Recent reports suggested that blind laparoscopic entry techniques, including Veress needle (VN), might increase the risks of potentially fatal complications. Materials and methods All consecutive patients who underwent laparoscopy in two Pediatric Hospitals with the use of a Veress needle during a 14-year period have been included. In all cases the first trocar was a radially expanding one (STEP). Complications related to the insertion technique are reported as well as those related to the whole laparoscopic technique. Results A total of 3463 patients younger than 18 years of age underwent laparoscopy between January 2006 and December 2019. Of these, 205 (5.9%) were younger than 6 months of age at surgery. Two-hundred-eighty-four patients (8.2%) previously underwent abdominal surgery. During first trocar insertion no major or minor vascular injuries occurred. Two patients (0.06%) experienced bowel lesions. Nine (0.26%) experienced failed entry. Fourteen patients (0.4%) experienced postoperative issues related to trocars positioning, namely, 9 omental eviscerations through port site insertion and 5 cases of hemoperitoneum owing to epigastric vessels lesion during operative trocar positioning. No other issues strictly related to laparoscopic entry technique have been recorded during the study period. No specific risk factors predisposing to complications have been identified but the presence of a positive history of previous abdominal procedures proved to be significantly related to a higher occurrence of bowel injury during Veress needle insertion (p = 0.0067). Discussion and conclusions Although with a number of biases and limitations, our study suggests that creation of pneumoperitoneum with VN combined to first trocar entry with STEP technology in children can represent a safe alternative. An exception is represented by patients who underwent previous abdominal surgeries who should be approached with caution, possibly with an open approach. Anyway, given the relatively poor quality of high-quality studies on this regard, we strongly support the implementation of well-designed RCT in children in order to answer this delicate topic. Type of study Retrospective. Level of evidence IV

The most appropriate treatment for the infantile Hypertrophic Pyloric Stenosis (HPS) is still debated. The non-surgical conservative treatment with oral or intravenous administration of atropine does not enjoy a widespread appreciation for several factors (...)

Introduction: The management of primary spontaneous pneumothorax (PSP) in children still remains controversial. The current literature shows a lack of scientific evidence supporting a standardized management. Materials and Methods: A multicenter retrospective study was performed, patients admitted for PSP in five Pediatric Surgical Units over a 9-year period (from 2008 to 2017) were included. Patient data were reviewed for each case. Management and outcomes were statistically analyzed. Results: Overall 159 patients (135 males and 24 females) were included in this study. During the first hospital admission, 62/159 patients (39%) were conservatively managed with oxygen therapy; 95/159 patients (60%) required a chest drain insertion; 2/159 patients (1%) underwent surgery because of a bilateral pneumothorax. Thoracoscopy was performed in 75/159 (47%) patients after the second hospital admission or for persistent air leak during the first access. Postoperatively, 8/75 (11%) patients developed recurrent pneumothorax requiring chest drain insertion in 3/8 (37%) cases or aspiration in 1/8 (13%), whereas 4/8 (50%) patients were conservatively managed. All of the patients but one, were confirmed to be affected by emphysematous-like changes at histology. Conclusions: Despite the limitations of being a retrospective study, we suggest that the early surgical management in children with PSP is feasible and safe and it seems to significantly reduce the recurrence rate. To the best of our knowledge there are no pediatric guidelines for the management of PSP, therefore, we support the need for prospective studies to create the evidence-based pillars for correct and standardized management of this condition.

Background Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci have been shown to contribute to disease pathogenesis. Nonetheless, a proportion of patients still remains unexplained. Copy Number Variations (CNVs) have already been involved in HSCR, and for this reason we performed Comparative Genomic Hybridization (CGH), using a custom array with high density probes. Results A total of 20 HSCR candidate regions/genes was tested in 55 sporadic patients and four patients with already known chromosomal aberrations. Among 83 calls, 12 variants were experimentally validated, three of which involving the HSCR crucial genes SEMA3A/3D, NRG1, and PHOX2B. Conversely RET involvement in HSCR does not seem to rely on the presence of CNVs while, interestingly, several gains and losses did co-occur with another RET defect, thus confirming that more than one predisposing event is necessary for HSCR to develop. New loci were also shown to be involved, such as ALDH1A2, already found to play a major role in the enteric nervous system. Finally, all the inherited CNVs were of maternal origin. Conclusions Our results confirm a wide genetic heterogeneity in HSCR occurrence and support a role of candidate genes in expression regulation and cell signaling, thus contributing to depict further the molecular complexity of the genomic regions involved in the Enteric Nervous System development. The observed maternal transmission bias for HSCR associated CNVs supports the hypothesis that in females these variants might be more tolerated, requiring additional alterations to develop HSCR disease.

Since Hirschsprung’s disease (HSCR) already proved to benefit from robotic surgery, we aimed at describing a wider series of patients with this rare disease who were operated on with a robotic approach. All consecutive HSCR patients who underwent totally robotic soave pull-through (TRSPT), between October 2015 and June 2019, have been included. Ethical Committee approval was obtained. Data regarding clinical features, technical details, complications, hospital stay, and functional outcome have been prospectively collected for each patient. Eleven patients have been included. Mean age at surgery was 29 months. Median length of surgery was 420 min. Median console time was 180 min. Six patients suffered from rectosigmoid aganglionosis, three from long HSCR (extending up to the hepatic flexure), two from total colonic aganglionosis. No major intraoperative complications occurred. Four patients (three of whom carrying a stoma) experienced minor mucosal tearing during dissection. One anastomotic stricture required dilatation under general anesthesia and two cuff strictures required cuff release (both occurring in patients who experienced intraoperative mucosal tearing). Follow-up lasted a median of 12 months. One patient experienced mild postoperative enterocolitis. Continence scored excellent-to-good in all patients who could be assessed on that regard (7 out of 11). Provided a number of technical key points are respected, the outcome of TRSPT for HSCR is promising. Younger patients, particularly those carrying a stoma, proved to be technically demanding and deserve a longer learning curve. Accurate preoperative bowel preparation, correct trocar placement and patient positioning proved to be crucial aspects of treatment. To conclude, TRSPT is particularly suitable for older HSCR patients, even those requiring a redo, and represents a valid alternative to available surgical option for this delicate subgroup of HSCR patients.

Purpose This study aimed to standardize the technique of pediatric endoscopic pilonidal sinus treatment (PEPSiT) associated with laser epilation. Methods All pediatric patients presenting with acute or chronic pilonidal sinus disease (PSD) who underwent PEPSiT in our institution over a 36-month period (July 2015–July 2018), were included in the study. Pre- and postoperative management, recurrence rate, postoperative pain, hospital stay, analgesic requirements, and patient satisfaction levels were evaluated. Results A total of 59 patients (23 girls and 36 boys) underwent PEPSiT during the study period. Ten/59 patients (16.9%) had recurrent PSD after open repair, and 4/59 (6.7%) presented a concomitant pilonidal cyst. All children underwent laser epilation pre- and postoperatively over the last 15 months. The average length of surgery was 27.5 min (range 20–45). The average pain score during the first 48 postoperative hours was 2.7 (range 2–5), and the average analgesic requirement was 20 h (range 16–24). The average hospitalization was 22.4 h (range 18–36). At 1 month postoperatively, external openings were healed in all patients. During follow-up, 1 recurrence (1.6%) was recorded and successfully re-treated with PEPSiT. Conclusions We believe that PEPSiT represents the technique of choice for treatment of PSD in the pediatric population. It is crucial to standardize the technique consisting of pre- and postoperative laser epilation, PEPSiT, and accurate postoperative wound management with eosin and sulfadiazine spray. Level of evidence Treatment study — Level IV

INTRODUCTION Laparoscopic-assisted ileostomy (LAI) represents a cornerstone for the staged approach to ulcerative colitis (UC). The aim is to determine stoma morbidity in a series of pediatric patients and possibly identify specific risk factors. METHODS All of the patients who underwent LAI for UC between January 2008 and December 2014 were included. The following data were collected: patient demographics, preoperative medical treatment, body mass index (BMI) at surgery, Pediatric UC Index (PUCAI), and stoma-related complications. In this series of patients, a staged approach has been adopted (subtotal colectomy + ileostomy; restorative proctocolectomy with J-pouch ileo-rectal anastomosis + ileostomy; ileostomy closure). RESULTS Seventy-two LAIs were fashioned in 37 pediatric patients with UC. Median age at surgery was 12 years (range 5-14.8 years). Boy to girl ratio was 0.85:1. Mortality was zero. Complications occurred after 8 procedures after a median of 31 days postoperatively (range 8-60 days). Those were significantly more frequent in the case of BMI-z score >-0.51 (deleted in revised manuscript, ie, relatively overweight patients) and in the case of preoperative azathioprine administration. Pediatric UC Index score, sex, number of preoperative medications, and other preoperative parameters did not correlate with the incidence of complications. CONCLUSIONS Our study suggests to keep a prudent behavior in the case of patients with a BMI-z score >-0.51 and received preoperative azathioprine administration. Parents should be adequately acknowledged on this regard.

Aim To define patterns in the management of pediatric appendicitis. Methods A total of 169 delegates from 42 (24 European) countries completed a validated survey administered at the EUPSA 2017 annual congress. Results In the work-up of children with suspected acute appendicitis, most surgeons rely on full blood count (92%), C-reactive protein (82%), and abdominal ultrasonography (76%), but rarely on computed tomography scans or magnetic resonance imaging. In suspected simple appendicitis, most surgeons (76%) do not perform appendectomy at night in clinically stable patients and start antibiotic preoperatively (64%), but only 15% offer antibiotic therapy alone (no appendectomy). In suspected perforated appendicitis, 96% start antibiotic preoperatively, and 92% perform an appendectomy. Presence of phlegmon/abscess is the main contraindication to immediate surgery. In case of appendix mass, most responders (75%) favor a conservative approach and perform interval appendectomy always (56%) or in selected cases (38%) between 2 and 6 months from the first episode (81%). Children with large intraperitoneal abscesses are managed by percutaneous drainage (59% responders) and by surgery (37% responders). Laparoscopy is the preferred surgical approach for both simple (89%) and perforated appendicitis (81%). Most surgeons send the appendix for histology (96%) and pus for microbiology, if present (78%). At the end of the operation, 58% irrigate the abdominal cavity only if contaminated using saline solution (93%). In selected cases, 52% leave a drain in situ. Conclusion Some aspects of appendicitis management lack consensus, particularly appendix mass and intraperitoneal abscess. Evidence-based guidelines should be developed, which may help standardize care and improve clinical outcomes.

Introduction The association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR + DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, complications and long term outcome. Materials and methods The notes of all patients admitted with a diagnosis of HSCR + DS have been retrospectively reviewed. Surgical details, intraoperative complications, long term issues and functional outcome have been recorded. The results have been compared to those of patients without DS and were assessed based on surgical approach. Results A total of 23 HSCR + DS out of a series of 385 HSCR (6%) have been included. Preoperative enterocolitis (HAEC) was reported by 32%. Associated anomalies were detected in more than half of the patients. In particular, Congenital Heart Defects (CHDs) were reported by 57%. Postoperative complications (mostly symptomatic anal sphincter achalasia) were experienced by 55%. Constipation was experienced by 30%; severe continence issues, by 53%. One patient suffering from severe CHDs died. With regard to complications, only symptomatic anal achalasia requiring intrasphincteric BoTox injection was significantly more frequent in HSCR + DS (30% vs 10%, p = 0.0071). Similarly, continence proved to be significantly worse in HSCR + DS. Discussion With the exception of symptomatic anal achalasia, HSCR + DS patients proved not to have a higher likelihood of complications compared to HSCR alone. On the other hand, functional results in the long term are worse. As a consequence, long term follow up and personalized rehabilitation programs are warranted for this delicate subset of HSCR patients. Level of evidence Level III.

Background Intrasphincteric Botulinum toxin (BoTox) injection for symptomatic postoperative anal achalasia in Hirschsprung's disease (HSCR) has found wide application in the last twenty years. The aim of this study is to describe effectiveness and functional outcome of a series of patients treated over a 10-year period. Methods All consecutive HSCR patients who received intrasphincteric BoTox injections between January 2007 and December 2016 were included. Demographic data and clinical features were collected. A detailed questionnaire focusing on outcome in the medium and long term was administered to all families. Results In the study period 64 intrasphincteric BoTox injections were performed in 31 patients. Completed questionnaires were returned by 27 out of 28 eligible patients (96%) reporting improvement or symptoms resolution in 16 (59%). The highest success rates were experienced by patients younger than 4, with long HSCR forms and with recurrent enterocolitis (75%, 100% and 100% of success rates, respectively). No major complications occurred. Minor complications were described by 7 patients (26%). Conclusions Intrasphincteric BoTox injection proved to be feasible, safe and reasonably effective in children with HSCR and postoperative anal achalasia. Infants and toddlers with long HSCR forms and recurrent bouts of enterocolitis are those who would benefit most from this treatment.

Chronic intestinal pseudo-obstruction (CIPO) syndromes are heterogeneous gastrointestinal disorders, caused by either neuropathy or myopathy, resulting in compromised peristalsis and intestinal obstruction. CIPO can have a profound impact on quality of life, leading the most severely affected individuals to life-long parenteral nutrition and urinary catheterization. To search for disease causing gene(s), we performed the whole exome sequencing (WES) in both eight sporadic and two familial cases, followed by targeted sequencing in additional CIPO patients. After identifying a heterozygous missense variant in the ACTG2 gene in one of 10 patients undergone WES, targeted Sanger sequencing of this gene allowed to detect heterozygous missense variants in 9 of 23 further patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction. Variants thus identified, one of which still unreported, affect highly conserved regions of the ACTG2 gene that encodes a protein crucial for correct enteric muscle contraction. These findings provided evidence for a correlation between the clinical phenotype and genotype at the ACTG2 locus, a first step to improve the diagnosis and prognosis of these severe conditions.

Background:Awake regional anesthesia (RA) is a viable alternative to general anesthesia (GA) for infants undergoing lower abdominal surgery. Benefits include lower incidence of postoperative apnea and avoidance of anesthetic agents that may increase neuroapoptosis and worsen neurocognitive outcomes. The General Anesthesia compared to Spinal anesthesia study compares neurodevelopmental outcomes after awake RA or GA in otherwise healthy infants. The aim of the study is to describe success and failure rates of RA and report factors associated with failure.Methods:This was a nested cohort study within a prospective, randomized, controlled, observer-blind, equivalence trial. Seven hundred twenty-two infants 60 weeks or less postmenstrual age scheduled for herniorrhaphy under anesthesia were randomly assigned to receive RA (spinal, caudal epidural, or combined spinal caudal anesthetic) or GA with sevoflurane. The data of 339 infants, where spinal or combined spinal caudal anesthetic was attempted, were analyzed. Possible predictors of failure were assessed including patient factors, technique, experience of site and anesthetist, and type of local anesthetic.Results:RA was sufficient for the completion of surgery in 83.2% of patients. Spinal anesthesia was successful in 86.9% of cases and combined spinal caudal anesthetic in 76.1%. Thirty-four patients required conversion to GA, and an additional 23 patients (6.8%) required brief sedation. Bloody tap on the first attempt at lumbar puncture was the only risk factor significantly associated with block failure (odds ratio = 2.46).Conclusions:The failure rate of spinal anesthesia was low. Variability in application of combined spinal caudal anesthetic limited attempts to compare the success of this technique to spinal alone.

Background:Postoperative apnea is a complication in young infants. Awake regional anesthesia (RA) may reduce the risk; however, the evidence is weak. The General Anesthesia compared to Spinal anesthesia study is a randomized, controlled trial designed to assess the influence of general anesthesia (GA) on neurodevelopment. A secondary aim is to compare rates of apnea after anesthesia.Methods:Infants aged 60 weeks or younger, postmenstrual age scheduled for inguinal herniorrhaphy, were randomized to RA or GA. Exclusion criteria included risk factors for adverse neurodevelopmental outcome and infants born less than 26 weeks gestation. The primary outcome of this analysis was any observed apnea up to 12 h postoperatively. Apnea assessment was unblinded.Results:Three hundred sixty-three patients were assigned to RA and 359 to GA. Overall, the incidence of apnea (0 to 12 h) was similar between arms (3% in RA and 4% in GA arms; odds ratio [OR], 0.63; 95% CI, 0.31 to 1.30, P = 0.2133); however, the incidence of early apnea (0 to 30 min) was lower in the RA arm (1 vs. 3%; OR, 0.20; 95% CI, 0.05 to 0.91; P = 0.0367). The incidence of late apnea (30 min to 12 h) was 2% in both RA and GA arms (OR, 1.17; 95% CI, 0.41 to 3.33; P = 0.7688). The strongest predictor of apnea was prematurity (OR, 21.87; 95% CI, 4.38 to 109.24), and 96% of infants with apnea were premature.Conclusions:RA in infants undergoing inguinal herniorrhaphy reduces apnea in the early postoperative period. Cardiorespiratory monitoring should be used for all ex-premature infants.

Key Clinical Message Iliopsoas abscesses have been reported in adult diabetic patients, but only one case has been so far reported in the pediatric diabetic literature. We report three cases of iliopsoas abscesses in three adolescents with type 1 diabetes mellitus, suggesting that an increased awareness of this condition is required for its early recognition and prompt treatment.

To measure the feasibility of using FMECA applied to the surgery and then compare the vulnerabilities of laparoscopic versus open appendectomy by using FMECA.The FMECA study was performed on each single selected phase of appendectomy and on complication-related data during the period January 1, 2009, to December 31, 2010. The risk analysis phase was completed by evaluation of the criticality index (CI) of each appendectomy-related failure mode (FM). The CI is calculated by multiplying the estimated frequency of occurrence (O) of the FM, by the expected severity of the injury to the patient (S), and the detectability (D) of the FM.In the first year of analysis (2009), 177 appendectomies were performed, 110 open and 67 laparoscopic. Eleven adverse events were related to the open appendectomy: 1 bleeding (CI: 8) and 10 postoperative infections (CI: 32). Three adverse events related to the laparoscopic approach were recorded: 1 postoperative infection (CI: 8) and 2 incorrect extractions of the appendix through the umbilical port (CI: 6). In the second year of analysis (2010), 158 appendectomies were performed, 69 open and 89 laparoscopic. Four adverse events were related to the open appendectomy: 1 incorrect management of the histological specimen (CI: 2), 1 dehiscence of the surgical wound (CI: 6), and 2 infections (CI: 6). No adverse events were recorded in laparoscopic approach.FMECA helped the staff compare the 2 approaches through an accurate step-by-step analysis, highlighting that laparoscopic appendectomy is feasible and safe, associated with a lower incidence of infection and other complications, reduced length of hospital stay, and an apparent lower procedure-related risk.

Inguinal hernias in children occur with a prevalence ranging from 3 to 5%. The likelihood of a symptomatic patent processus vaginalis is significantly higher in preterms, as reported by most series. As a consequence, inguinal hernia represents the most common condition requiring surgical repair in the neonate and preterm baby. Surgery aims at avoiding and preventing intestinal and gonadal lesions related to incarceration. Nonetheless, hernia repair is technically demanding, with a relatively high risk of complications including recurrence and testicular atrophy. This paper will address some of most debated aspect of inguinal hernia management in preterms babies. The authors will discuss anesthesiological implications, available surgical techniques, optimal timing for surgery, and reasons for possible contralateral groin exploration. The authors will also discuss literature evidences and will propose their own behavior to provide an algorithm for the correct management of neonates and ex-preterms with inguinal hernia.

BACKGROUND Persistent chylothorax in children is rare. Conservative management represents the gold standard but, in case of failure (persistent effusion or relapse), surgery must be considered. This paper aimed at presenting our series of patients who underwent surgical treatment of persistent idiopathic chylothorax and at discussing the role of thoracic duct ligation in its management. METHODS We included all patients who underwent surgery for persistent chylothorax in the period between January 1994 and January 2010. RESULTS Nine patients were included (median age 25 months). Five patients had primitive or idiopathic chylothorax. Five patients had right-sided chylothorax, 3 left-sided, and 1 bilateral. Pleurodesis was applied to 8 patients (bilateral in one) and thoracic duct ligation to 4 patients for a total of 12 procedures in 9 patients. Complete cessation occurred within a median of 5 days (range 2 to 10) after thoracic duct ligation and 10 days (range 4 to 25) after pleurodesis. In 3 patients (all with right sided effusion and a median daily output higher than 20 ml/kg) pleurodesis failed and thoracic duct ligation was subsequently required to definitively treat chylothorax. Conversely, 5 patients were effectively treated with pleurodesis and 1 with thoracic duct ligation alone. Regardless of previous procedures, none of the patients who underwent thoracic duct ligation experienced relapses. CONCLUSIONS Although based on a small number of patients, our experience confirmed that thoracic duct ligation represents an effective therapeutic option for persistent unresponsive chylothorax. In cases of right sided effusion with high output rate (>20 mL/kg) thoracic duct ligation might be considered as first choice treatment.

There is a lack of information about evaluation of pediatric minimal access surgery complications; the Clavien-Dindo classification was never used for a large series of laparoscopic and thoracoscopic pediatric procedures. With a prospective Morbidity and Mortality database, all the minimal access surgical procedures carried out between 2012 and 2016 were included in this study. Statistical analyses were used to valuate modification of surgical techniques in to 2 periods (period 1: January 2012 to February 2014; period 2: February 2014 to February 2016). A total of 1374 minimal access procedures were performed on 1371 patients. The overall complication rate was 2.9%. No differences, in terms of complications, were observed between elective and emergency procedures (P=0.3). There was a significant difference between the complication rate of thoracoscopic surgery (P=0.027). These results provide the relevance of adequate recording system and standardized classification for analyses and reduction of complications for pediatric minimal access procedures.

Background: Around 70% of children with neurodisability (ND) present pharyngeal neuromuscular incoordination and severe gastroesophageal reflux disease (GORD). Methods: This is a pilot study with the Robotic-assisted minimally invasive total esophagogastric dissociation (TOGD). Results: We included 4 patients, 2 males and 2 females, with ND and severe GORD refractory to medical treatment. Conclusions: Pharmacological management of GORD is often unsuccessful and antireflux surgery is common, but it has a high failure rate with symptom recurrence, requiring re-do surgery. TOGD is a good option for these patients.

Background: Esophageal achalasia is not a frequent disorder in children, and different treatments have been proposed during the past decades. This study reviews the results of the laparoscopic Heller-Dor procedure performed in pediatric patients. Methods: We included the patients operated in the period 1994–2009. A single longitudinal anterior esophageal myotomy (Heller) and a 180° anterior gastropexy (Dor) were laparoscopically performed. The patients were checked to detect intra- or postoperative complications and recurrence. Results: 20 children were operated on. Conclusions: As complication and recurrence rates are very low, we consider modified Heller myotomy and Dor gastropexy through a laparoscopic approach our first choice to treat esophageal achalasia in the pediatric population.

Introduction The potential drawbacks of tunneled-cuffed catheters are complications such as local or systemic infection, dislodgment, rupture, malfunction, and deep venous thrombosis. Aim of this study is to describe the incidence of complications, focusing on dislodgment and on the role of new securement devices in reducing this annoying issue. Methods We enrolled all pediatric patients with tunneled-cuffed central venous catheters (CVCs) inserted at the Giannina Gaslini Institute during a 16-month period. Demographic data, technical details, intraoperative and postoperative complications were recorded and stored in a digital database according to Data Protection Act. Results During the study period, we collected 173 tunneled-cuffed CVCs. All but three insertions were successful. There were 50 complications involving 47 CVCs. Complications included 13 infections, 27 dislodgments, 4 thromboses, 3 obstructions, and 3 malfunctions/breaking. In 51 of 173 CVCs, we used subcutaneously anchored securement device (SAS). Conclusions The use of SAS proved to significantly reduce the incidence of complications in pediatric patients, particularly during the first 30 postoperative days. Basing on our results we suggest to routinely adopt this new securement device for high-risk CVC.