A Population-Based Cohort Study on Diagnosis and Early Management of Anorectal Malformation in the UK and Ireland.

BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).

Complete Resection of Necrotic Bowel Improves Survival in NEC Without Compromising Enteral Autonomy.

AIMS: Controversy persists regarding operative strategy for necrotising enterocolitis (NEC). Some surgeons advocate resecting all necrotic bowel, whilst others defunction with a stoma, leaving diseased bowel in situ to preserve bowel length. We reviewed our institutional experience of both approaches. METHODS: Neonates undergoing laparotomy for NEC May 2015-2019 were identified. Data extracted from electronic records included: demographics, neonatal Sequential Organ Failure Assessment (nSOFA) score at surgery, operative findings, and procedure performed. Neonates were assigned to two groups according to operative strategy: complete resection of necrotic bowel (CR) or necrotic bowel left in situ (LIS). Primary outcome was survival, and secondary outcome was enteral autonomy. Outcomes were compared between groups. RESULTS: Fifty neonates were identified. Six were excluded: 4 with NEC totalis and 2 with no visible necrosis or histological confirmation of NEC. Of the 44 remaining neonates, 27 were in the CR group and 17 in the LIS group. 32 neonates survived to discharge (73%). On univariate analysis, survival was associated with lower nSOFA score (P = 0.003), complete resection of necrotic bowel (OR 9.0, 95% CI [1.94-41.65]), and being born outside the surgical centre (OR 5.11 [1.23-21.28]). On Cox regression multivariate analysis, complete resection was still strongly associated with survival (OR 4.87 [1.51-15.70]). 28 of the 32 survivors (88%) achieved enteral autonomy. There was no association between operative approach and enteral autonomy (P = 0.373), or time to achieve this. CONCLUSION: Complete resection of necrotic bowel during surgery for NEC significantly improves likelihood of surviving without negatively impacting remaining bowel function. LEVEL OF EVIDENCE: III.

Exploring Growth Failure in Neonates With Enterostomy.

AIM OF THE STUDY: Neonatal enterostomy is a known risk for growth failure. We hypothesized that episodes of inflammation may drive a catabolic state, exploring this by assessing serum biochemistry alongside growth trajectory in enterostomy patients. METHODS: A retrospective analysis of infants with histologically confirmed NEC from 01/2012-07/2021 in a tertiary neonatal surgical centre was performed. Change in weight-for-age Z-score (ΔZ) between stoma formation and closure was calculated. Serum CRP (C-reactive protein), urea, and creatinine levels were recorded and duration of elevated levels calculated as Area Under Curve (AUC). We examined for trends of serum levels rising together using intersecting moving averages. Spearman's correlation analysis was performed, while multivariable linear regression examined factors associated with ΔZ. RESULTS: 79 neonates were included. At stoma formation, median Z-score was -1.42 [range -4.73, +1.3]. Sixty-two patients (78 %) had a fall in Z-score during their time with a stoma, 16 (20 %) had a ΔZ less than -2. Urea AUC was significantly univariably correlated with ΔZ and remained statistically significant in a multivariable model (Exp(B) x 100 = -0.57[-1, -0.09]; p = 0.022). The number of biomarker peaks correlated significantly with ΔZ for urea (r = -0.25; p = 0.025) and CRP (r = -0.35; p = 0.0017) but not Creatinine (r = -0.21; p = 0.066). Analysing the number of peaks of any combination of variables coinciding was consistently significantly correlated negatively with ΔZ (r = -0.29 to -0.27; p ≤ 0.016 for all). CONCLUSION: Our data shows that infants who were more severely affected by growth failure had more frequent and severe uremia while they had a stoma (suggesting a catabolic state). Disturbances in urea were commonly associated with CRP, suggesting that inflammation is a significant factor in growth failure in these infants. These findings promote aggressive management of sepsis in these infants, as well as suggesting an earlier closure of stoma to minimise their "at-risk"' period.

Liver secretin receptor predicts portoenterostomy outcomes and liver injury in biliary atresia.

Biliary atresia (BA) is a chronic neonatal cholangiopathy characterized by fibroinflammatory bile duct damage. Reliable biomarkers for predicting native liver survival (NLS) following portoenterostomy (PE) surgery are lacking. Herein we explore the utility of 22 preidentified profibrotic molecules closely connected to ductular reaction (DR) and prevailing after successful PE (SPE), in predicting PE outcomes and liver injury. We used qPCR and immunohistochemistry in a BA cohort including liver samples obtained at PE (n = 53) and during postoperative follow-up after SPE (n = 25). Of the 13 genes over-expressed in relation to cholestatic age-matched controls at PE, only secretin receptor (SCTR) expression predicted cumulative 5-year NLS and clearance of jaundice. Patients in the highest SCTR expression tertile showed 34-55% lower NLS than other groups at 1-5 years after PE (P = 0.006-0.04 for each year). SCTR expression was also significantly lower [42 (24-63) vs 75 (39-107) fold, P = 0.015] among those who normalized their serum bilirubin after PE. Liver SCTR expression localized in cholangiocytes and correlated positively with liver fibrosis, DR, and transcriptional markers of fibrosis (ACTA2) and cholangiocytes (KRT7, KRT19) both at PE and after SPE. SCTR is a promising prognostic marker for PE outcomes and associates with liver injury in BA.

Fetal magnetic resonance imaging (MRI) enhances the diagnosis of congenital body anomalies.

AIMS: We sought to assess variability and concordance between fetal MRI and ultrasound (USS) in the evaluation of fetal body abnormalities. METHODS: All fetal body anomalies reported on F-MRI within the iFIND database (http://www.ifindproject.com) were included. Differences in findings regarding anomalies on contemporaneous USS were explored. Three clinical specialists evaluated each case independently, and the anomaly severity was graded: as "insignificant" to "lethal". The value of MRI in alteration of either antenatal or postnatal care was established. RESULTS: Fifty-four cases were identified consisting of 5 healthy controls, 37 with USS-identified body anomalies, and 12 with known CNS or cardiac anomalies. In fetuses with a known body anomaly, information on the MRI was relevant to change the clinical course in 59% of cases. There was also an incidental detection rate of 7% in fetuses with known cardiac or CNS anomalies, or 1.5% of normal control, although these were rarely clinically relevant. Importantly, fetuses undergoing MRI for cardiac concerns did have major anomalies that were missed (one case of oesophageal atresia and two cases of ARM). CONCLUSIONS: In cases where fetal anomalies are suspected, F-MRI is a valuable means of further characterizing anomalies and may detect additional anomalies in fetuses with recognized cardiac or CNS anomalies. In fetuses with a recognized body anomaly, more than half of those scanned by MRI had information available which changed clinical management. Importantly there were also incidental findings in healthy control fetuses, so the management of these needs to be recognized in fetal MRI research. LEVEL OF EVIDENCE: II, Prospective cohort study.

Outcomes in Hirschsprung's disease with coexisting learning disability.

This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprung's disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. This was a cross-sectional study from a tertiary pediatric surgery center. Patients treated between 1977 and 2013 were prospectively contacted to complete an outcomes survey. Children under 12 and older patients with LD were assisted to complete these by a proxy. Bowel and urologic function were assessed (Rintala's BFS and modified DanPSS) along with HRQoL (PedsQL/GIQLI/SF-36). Thirty-two patients with LD were compared to 186 patients with normal cognition. Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults. Subgroup analysis of patients with Down syndrome suggested similar functional results but better QoL. Multivariate analysis demonstrated a dramatically higher incidence of poor continence outcomes in patients with LD (adjusted OR 9.6 [4.0-23]).Conclusions: We provide LD-specific outcomes showing inferior function but similar HRQoL to other patients with HSCR, this is much needed in the counselling of families of these children. What is Known: • Hirschsprung's disease is commonly associated with syndromes or other anomalies with resultant cognitive impairments. • The outcomes for these patients specifically have been poorly described in the literature. What is New: • Objective functional and quality of life surveys demonstrate significant differences from patients without cognitive impairment. • Patients with learning disability Patients with associated LD were almost ten times more likely to have an associated poor functional outcome, with very little impact on proxy-reported quality of life.

Long-term surgical and patient-reported outcomes of Hirschsprung Disease.

BACKGROUND: Information is needed regarding the complex relationships between long-term functional outcomes and health-related quality of life (HRQoL) in Hirschsprung's Disease (HSCR). We describe long-term outcomes across multiple domains, completing a core outcome set through to adulthood. METHODS: HSCR patients operated at a single center over a 35-year period (1978-2013) were studied. Patients completed detailed questionnaires on bowel and urologic function, and HRQOL. Patients with learning disability (LD) were excluded. Outcomes were compared to normative data. Data are reported as median [IQR] or mean (SD). RESULTS: 186 patients (median age 28 [18-32] years; 135 males) completed surveys. Bowel function was reduced (BFS 17 [14-19] vs. 19 [19-20], p < 0•0001;η2 = 0•22). Prevalence and severity of fecal soiling and fecal awareness improved with age (p < 0•05 for both). Urinary incontinence was more frequent than controls, most of all in 13-26y females (65% vs. 31%,p = 0•003). In adults, this correlated independently with constipation symptoms (OR 3.18 [1.4-7.5],p = 0.008). HRQoL outcomes strongly correlated with functional outcome: 42% of children demonstrated clinically significant reductions in overall PedsQL score, and poor bowel outcome was strongly associated with impaired QOL (B = 22•7 [12•7-32•7],p < 0•001). In adults, GIQLI scores were more often impacted in patients with extended segment disease. SF-36 scores were reduced relative to population level data in most domains, with large effect sizes noted for females in General Health (g = 1.19) and Social Wellbeing (g = 0.8). CONCLUSION: Functional impairment is common after pull-through, but bowel function improves with age. Clustering of poor functional outcomes across multiple domains identifies a need for early recognition and long-term support for these patients.

Fetal body MRI and its application to fetal and neonatal treatment: an illustrative review.

This Review depicts the evolving role of MRI in the diagnosis and prognostication of anomalies of the fetal body, here including head and neck, thorax, abdomen and spine. A review of the current literature on the latest developments in antenatal imaging for diagnosis and prognostication of congenital anomalies is coupled with illustrative cases in true radiological planes with viewable three-dimensional video models that show the potential of post-acquisition reconstruction protocols. We discuss the benefits and limitations of fetal MRI, from anomaly detection, to classification and prognostication, and defines the role of imaging in the decision to proceed to fetal intervention, across the breadth of included conditions. We also consider the current capabilities of ultrasound and explore how MRI and ultrasound can complement each other in the future of fetal imaging.

Open Primary Button Versus Laparoscopic Percutaneous Endoscopic Gastrostomy: Results From a Case-control Study.

OBJECTIVES: Open primary balloon gastrostomy (PBG) presents a potential alternative to percutaneous endoscopic gastrostomy (PEG) in children as it obviates the need for change under general anaesthetic; however, the complication profile of PBG compared to PEG is not well defined. Previous series comparing the two have been hampered by the groups not being equivalent. Our paediatric surgical centre has offered PBG as an alternative PEG since 2014. We used a matched case-control study to compare outcomes for PBG and PEG. METHODS: Patients undergoing PBG were used as "cases" and matched 1:3 by age and diagnosis to patients undergoing PEG, demographics, and clinical data as "controls." Primary outcome was rate of complications classified according to Clavien-Dindo (I-V). Secondary outcomes included time to feed and length of stay. Non-parametric, categorical and multivariate logistic regression analyses were performed. Data here presented as median with interquartile range (IQR). RESULTS: We included 140 patients (35 PBG:105 PEG). The 2 groups were comparable for sex, weight at surgery, and follow-up duration. Median operative time was longer for PBG (43 min [IQR 36.5-61.5] vs 27.5 min [18.25-47.75], P < 0.001). Multivariate analysis demonstrated a statistically significant, higher incidence of symptomatic granulation tissue in PBG (10 [29%] vs 6 [6%], P = 0.0008), this remained significant on multivariate analysis (OR 7.56 [2.33-23.5], P = 0.001), no other complication remained significant. The overall complication rate was not statistically different. CONCLUSIONS: PBG and PEG have similar overall complication rates; however, PBG appears to have a higher incidence of granulation tissue. This observation must be weighed against the need for further general anaesthetic which is not insignificant in medically complex children.

Fundoplication to preserve allograft function after lung transplant: Systematic review and meta-analysis.

BACKGROUND: ARS has been adopted in select patients with lung transplant for the past 2 decades in many centers. Outcomes have been reported sporadically. No pooled analysis of retrospective series has been performed. OBJECTIVE: This review and pooled analysis sought to demonstrate objective evidence of improved graft function in lung transplant patients undergoing antireflux surgery (ARS). METHODS: In accordance with Meta-analyses of Observational Studies in Epidemiology guidelines, a search of PubMed Central, Medline, Google Scholar, and Cochrane Library databases was performed. Articles documenting spirometry data pre- and post-ARS were reviewed and a random-effects model meta-analysis was performed on forced expiratory volume in 1 second (FEV1) values and the rate of change of FEV1. RESULTS: Six articles were included in the meta-analysis. Regarding FEV1 before and after ARS, we observed a small increase in FEV1 values in studies reporting raw values (2.02 ± 0.89 L/1 sec vs 2.14 ± 0.77 L/1 sec; n = 154) and % of predicted (77.1% ± 22.1% vs 81.2% ± 26.95%; n = 45), with a small pooled Cohen d effect size of 0.159 (P = .114). When considering the rate of change of FEV1 we observed a significant difference in pre-ARS compared with post-ARS (-2.12 ± 2.76 mL/day vs +0.05 ± 1.19 mL/day; n = 103). There was a pooled effect size of 1.702 (P = .013), a large effect of ARS on the rate of change of FEV1 values. CONCLUSIONS: This meta-analysis of retrospective observational studies demonstrates that ARS might benefit patients with declining FEV1, by examining the rate of change of FEV1 during the pre- and postoperative periods.

Variations in the Detection of Anorectal Anomalies at Birth among European Cities.

INTRODUCTION: The diagnosis of anorectal malformations (ARMs) is made at birth by perineal examination of the newborn, yet small series reported late diagnosis in almost 13%. No large series to date have looked into the magnitude of missed ARM cases in the neonatal period across Europe. This study aimed to define the rate of missed ARM at birth across four United Kingdom and European Union centers. MATERIALS AND METHODS: All ARM cases treated at two United Kingdom tertiary centers in the past 15 years were compared with two tertiary European centers. Demographic and relevant clinical data were collected. Late diagnosis was defined as any diagnosis made after discharge from the birth unit. Factors associated with late diagnosis were explored with descriptive statistics. RESULTS: Across the four centers, 117/1,350, 8.7% were sent home from the birth unit without recognizing the anorectal anomaly. Missed cases showed a slight female predominance (1.3:1), and the majority (113/117, 96.5%) were of the low anomaly with a fistula to the perineum. The rate of missed ARM cases was significantly higher in the United Kingdom centers combined (74/415, 17.8%) compared with those in the European Union (43/935, 4.6%) (p < 0.00001), and this was independent of individual center and year of birth. CONCLUSION: Significant variation exists between the United Kingdom and other European countries in the detection of ARM at birth. We recommend raising the awareness of accurate perineal examination at the time of newborn physical examination. We feel this highlights an urgent need for a national initiative to assess and address the timely diagnosis of ARM in the United Kingdom.

Pediatric Esophageal Dilatations: A Cross-Specialty Experience.

Aim of the Study: Esophageal dilatations are commonly performed in pediatric patients who have undergone an esophageal atresia/tracheoesophageal fistula (EA/TEF) repair or following caustic injury. We sought to compare the practice of esophageal dilatation across different specialties. Methods: We analyzed all patients who had an esophageal dilatation at our center between April 2014 and December 2018. Patients were identified via prospectively maintained databases and clinical coding records. Patients had a combination of dilatations under each specialty: interventional radiology (IR), surgery, and gastroenterology. Results: Thirty-five individual patients underwent 226 dilatations, median dilatations per patient was 3 (1-40). The median age at first dilatation was 18 months (1-194 months). Sixty-eight percent of patients had a previous EA/TEF repair. IR performed 59% of dilatations, surgeons 26%, and 15% by gastroenterologists. Surgeons more frequently were performing initial dilatations (P < .05) and performed more dilatations in EA/TEF patients (P < .0001). There was a significant difference between the time from a surgical dilatation until the next dilatation, 3.7 months, compared with an IR dilatation, 1.8 months (ANOVA, P < .05). Surgeons more frequently increased the size of balloon used (57% versus 33% versus 39%, P < .01). There was no significant difference in balloon size between specialties or in the incremental increase in size between subsequent dilatations. There was one postprocedure perforation, managed conservatively (complication rate = 0.4%). Conclusion: We have demonstrated that on average, patients wait longer after a surgical dilatation until their next procedure, and surgical teams are more likely to increase the size of the dilating balloon. Surgeons tend to be more involved in their postoperative patients in the initial phases of stricture management. Our results suggest the feasibility and safety of a multispecialty approach for these patients.

The management of boys under 3 months of age with an inguinal hernia and ipsilateral palpable undescended testis.

AIMS: The optimal management for boys under 3 months of age with an indirect inguinal hernia (IIH) and ipsilateral palpable undescended testis (IPUDT) is unknown. We aimed to: 1) determine the current practice for managing these boys across the UK, and 2) compare outcomes of different treatment strategies. METHODOLOGY: We undertook two studies. Firstly, we completed a National Survey of all surgeons on the British Association of Paediatric Surgeons email list in 2014. Subsequently, we undertook a multi-centre, retrospective, 10-year (2005-2015) review across 4 pediatric surgery centers of boys under 3months of age with concomitant IIH and IPUDT. Primary outcome was testicular atrophy. Secondary outcomes included need for subsequent orchidopexy, testicular ascent and hernia recurrence. Data are presented as median (range). Chi-squared test and multivariate binomial logistic regression analysis were used for analysis; p<0.05 was considered significant. RESULTS: Survey: Consultant practice varies widely across the UK, with a tendency towards performing concurrent orchidopexy at the time of herniotomy under 3 months of age. Concurrent orchidopexy is favored less in cases where the hernia is symptomatic. Case Series Review: Forty-one boys with 43 concomitant IIH and IPUDT were identified, and all included. 32 (74%) hernias were reducible, 11 (26%) were symptomatic requiring urgent or emergency repair. Post-conceptual age at surgery was 45weeks (36-65). Primary operations included: 29 (67%) open hernia repair and standard orchidopexy, 8 (19%) open hernia repair with future orchidopexy if required, 4 (9%) laparoscopic hernia repair with future orchidopexy if required, 2 (5%) open hernia repair and suturing of the testis to the inverted scrotum without scrotal incision. Variation in atrophy rate between different surgical approaches did not reach statistical significance (p=0.42). Overall atrophy rate was 18%. If hernia repair alone was undertaken (8 open and 4 laparoscopic), the testis did not descend in 8 patients, requiring subsequent orchidopexy (67%); if orchidopexy was undertaken at the time of hernia repair, 1 in 29 required a repeat orchidopexy (3%) (p=0.0001). No hernia recurred. CONCLUSION: This study suggests that orchidopexy at the time of inguinal herniotomy does not increase the risk of testicular atrophy in boys under 3months of age.