The AST-to-Platelet Ratio Index (APRi) at Kasai Portoenterostomy: Standing the Test of Time.

AIMS: The outcomes following surgical treatment of infants with biliary atresia (BA) varies across the world with many possible confounding factors. APRi (AST-to-platelet ratio index) is a simple surrogate marker of liver fibrosis and we sought to determine its long-term relationship (if any) with outcome post-Kasai portoenterostomy (KPE). METHODS: Prospectively acquired database (Jan 1998-Dec 2021). Clearance of jaundice was defined as achieving <20 umol/L post-KPE. Categorical and survival data were tested using Chi2 tests and a log rank test respectively. P ≤ 0.05 was regarded as significant. Data are quoted as median (interquartile range) unless otherwise stated. RESULTS: There were 473 infants with a calculated APRi at time of KPE [0.70 (IQR 0.45-1.2)] and known outcomes. There was significant but moderate correlation with age at KPE (rS = 0.43; P < 0.0001). APRi was divided into quartiles (1st 0.11-0.44, n = 120; 2nd 0.45-0.69, n = 120; 3rd 0.70-1.18, n = 115 and 4th 1.2-15.1; n = 118). There was a clear distinction in APRi levels between CMV + ve BA and the other groups (Syndromic BA, Cystic BA, Isolated BA), with an overrepresentation of CMV IgM + ve BA in the higher APRi quartiles (Χ2 = 26.6; P = 0.0002). Clearance of jaundice showed a stepwise decrease across the quartiles (67%; 58%; 55%; 49%; overall Χ2 = 7.8, P = 0.049 and P = 0.005 for trend). Decreasing native liver survival also showed a significant trend (P = 0.01). CONCLUSION: APRi appears to be of fundamental prognostic value in stratifying the BA population. In our series, CMV status was associated with higher APRi score and appears to be different. This simple variable offers an objective method of assessing the biological status of BA at presentation and variability between different series. LEVEL OF EVIDENCE: II (prospective comparison).

The long-term outcome following thoraco-amniotic shunting for congenital lung malformations.

AIM OF THE STUDY: Insertion of a thoraco amniotic shunt (TAS) during fetal life is a therapeutic option where there is a high risk of death secondary to large congenital lung malformations (CLM). The aim of this study is to present our center's long-term experience. METHODS: Retrospective single center review of the period (Jan 2000-Dec 2020). We included all fetuses that underwent TAS insertion for CLM with detailed analysis of those live newborns managed in our center. Data are quoted as median (range). MAIN RESULTS: Thirty one fetuses underwent 37 TAS insertions at a 25 (20-30) weeks gestational age. This was successful on 1st attempt in 30 (97%) fetuses. In 6 cases a 2nd shunt was required at 6.5 (2-10) weeks following the 1st insertion. Twenty-eight survived to be born. Sixteen (9 male) infants were delivered in our center at 39 (36-41) weeks gestational age and birth weight of 3.1 (2.6-4.2) kg. All infants underwent surgery at 2 (0-535) days (emergency surgery, n = 9; expedited n = 4; elective surgery, n = 3). Final histopathology findings were CPAM Type 1 (n = 14, n.b. associated with mucinous adenocarcinoma, n = 1), CPAM Type 2 (n = 1) and an extralobar sequestration (n = 1). Postoperative stay was 16 (1-70) days with survival in 15/16 (94%). One infant died at 1 day of life secondary to a combination of pulmonary hypoplasia and hypertension. Median follow up period was 10.7 (0.4-20.4) years. Nine (60%) children developed a degree of chest wall deformity though none have required surgical intervention. Clinically, 14/15 (93%) have otherwise normal lung function without limitations of activity, sporting or otherwise. One child has a modest exercise limitation (FVC - 70% predicted). CONCLUSIONS: TAS insertion is associated with high perinatal survival and should be considered in fetuses at risk of hydrops secondary to large cystic lung malformation. Their long term outcome is excellent although most have a mild degree of chest wall deformity.

Biliary atresia & choledochal malformation--Embryological and anatomical considerations.

The two main biliary pathologies in paediatric practice, biliary atresia and choledochal malformations (CM), have their origins within prenatal life. Nevertheless, the actual mechanisms remain elusive with many unanswered questions. The extrahepatic bile duct develops as a funnel-like structure emerging from the foregut from about 3-4 weeks of gestation into the mesenchyme of the septum transversum. The cranial elements of this contain hepatoblasts - the precursors to the two key cell lines that will become hepatocytes and biliary epithelial cells. The intrahepatic bile ducts develop separately and emerge from a complex process involving the ductal plate surrounding the in-growing portal venous system from about the 7-8th week of gestation. A developmental defect at some point(s) in this process may be the cause of at least some variants of BA - the Biliary Atresia Splenic Malformation syndrome particularly - though evidence in the more common isolated BA is much more circumstantial. Similarly, some types of choledochal malformation, specifically the cystic type of CM, are invariably present during prenatal life although again an actual aetiological mechanism remains elusive.

Neonatal congenital pulmonary airway malformation associated with mucinous adenocarcinoma and KRAS mutations.

AIM OF THE STUDY: Congenital pulmonary airway malformation (CPAM) has an estimated prevalence in Europe of 1.06/10,000 live births with most being detected using maternal ultrasound screening. Malignant transformation is a possible complication though its prevalence is unknown and previous reports have usually been in older children. We reviewed our experience to identify those CPAM cases associated with malignancy. METHODS: Single centre retrospective review of all surgically treated children with antenatally-detected CPAM, with detailed review of cases associated with malignancy. MAIN RESULTS: 210 infants and children underwent resectional surgery for CPAM during the period 1994-2020, with 43(20.5%) undergoing surgery during the neonatal period. Of these, 3 infants, all males, had undergone surgical resection for respiratory distress (at 3, 4 and 8 days of life) with subsequent histological confirmation as Stocker type 1 CPAM with clear foci of mucinous adenocarcinoma. Subsequent genetic analysis showed somatic KRAS (Kirsten Rat Sarcoma Viral Oncogene) mutations in all three cases. No adjuvant treatment was required, and all are asymptomatic and disease-free at most recent follow-up (8 months, 2 and 6 years) CONCLUSIONS: This series highlights a clear association between type 1 CPAM and mucinous adenocarcinoma with KRAS point mutations, suggesting that the process of carcinogenesis has the potential to start in utero. This underlines the importance of discussing the risk of malignancy in prenatal and postnatal counselling.

Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity.

Biliary atresia (BA) is an obliterative condition of the biliary tract that presents with persistent jaundice and pale stools typically in the first few weeks of life. While this phenotypic signature may be broadly similar by the time of presentation, it is likely that this is only the final common pathway with a number of possible preceding causative factors and disparate pathogenic mechanisms-i.e., aetiological heterogeneity. Certainly, there are distinguishable variants which suggest a higher degree of aetiological homogeneity such as the syndromic variants of biliary atresia splenic malformation or cat-eye syndrome, which implicate an early developmental mechanism. In others, the presence of synchronous viral infection also make this plausible as an aetiological agent though it is likely that disease onset is from the perinatal period. In the majority of cases, currently termed isolated BA, there are still too few clues as to aetiology or indeed pathogenesis.

Femoral hernias: A paediatric surgical enigma.

PURPOSE: In the paediatric population, femoral hernia (FH) represents an uncommon and often misdiagnosed pathology. This study aimed to review our experience with the management of FH in children. METHODS: Medical records were retrospectively reviewed for all patients presenting to the paediatric surgical service in Ireland over a 15-year period (2004-2019), who were operated on for FH. Collected data included demographics, preoperative diagnosis, operative details, complications and follow-up. RESULTS: During the study period, n = 26 patients (n = 18 males) underwent FH repair, with a median age at surgery 6.9 years (range 3-16 years). During the same period n = 5693 patients underwent inguinal herniotomy, resulting in a FH to inguinal hernia (IH) ratio of 1:219 and a FH incidence of 0.45% of all groin hernias. The right side was affected in n = 18 (69.2%) cases and all cases were unilateral. A correct preoperative diagnosis was established in n = 16 (61.5%) cases, n = 8 (30.8%) cases were misdiagnosed as IH and the diagnosis was equivocal in 2 cases (7.7%). All operations were performed on an elective basis. In 3 patients from the misdiagnosed group, FH was found at first operation following negative groin exploration for IH. The remaining 5 patients underwent previous groin exploration for suspected IH and represented with clinical picture of groin hernia recurrence. All patients with a correct preoperative diagnosis underwent a FH repair via an inguinal or infra-inguinal approach. The content of the hernia sac was preperitoneal fat in n = 18 cases, lymph nodes in n = 2 cases, omentum in n = 1 and an empty sac in n = 1. There were no postoperative complications or recurrences. Median follow-up time was 6 weeks (range 0-2.5 years). CONCLUSION: In the paediatric population, FH is a rare pathology and can be a challenging diagnosis. FH is commonly misdiagnosed as IH and may require more than one operation to correctly identify and treat. A high index of suspicion of FH should be maintained in patients who have a negative groin exploration for IH in the setting of a clear pre-operative diagnosis of a groin hernia. FH should also be considered in the differential diagnosis when an IH appears to recur.

Predictors of long-term respiratory insufficiency of exomphalos major.

INTRODUCTION: Exomphalos major (EM) is associated with significant morbidity and even mortality with an important risk of long-term pulmonary disease. AIM: To assess the outcomes of exomphalos in a single tertiary pediatric unit and to identify prognostic factors for patients with respiratory insufficiency who still require ventilatory assistance at six months. MATERIAL AND METHODS: All infants admitted to our institution over a 10-year period (2005 to 2015) with exomphalos were retrospectively reviewed. EM was defined when the abdominal wall defect measured >= 5 cm and/or contained liver within the sac. Data were collected on patient demographics, prenatal course and imaging, birth information, immediate and long-term outcomes. Those with long-term respiratory insufficiency were identified as the primary outcome and reviewed to assess prognostic factors. A p value of ≤0.05 was regarded as significant. Data are quoted as median(range). RESULTS: A total of 46 infants were diagnosed with exomphalos during the study period, with most (n = 30, 65%) defined as exomphalos major. Respiratory complications occurred in 16 (35%) with 8 (50%) of these requiring long-term (≥6 months) mechanical ventilation and 5 (31%) required a tracheostomy. On univariate analysis, resuscitation at birth (p = 0.0004), birth weight <3000 g (p = 0.008), use of nitric oxide (p = 0.004), high frequency oscillatory ventilation (HFOV) (p = 0.001), pulmonary hypoplasia (p<0.0001) and pulmonary hypertension (PHTN) (p = 0.02) were significantly associated with respiratory insufficiency. The strongest predictive model for ventilation support at six months was resuscitation at birth in combination with PH (OR = 1.57). Five infants (11%) died at 5(1-122) days. CONCLUSIONS: In patients with EM, the presence of pulmonary hypertension along with resuscitation at birth are the most important prognostic factors for long-term respiratory insufficiency. Acknowledgement of these factors allows for better parental counselling regarding respiratory outcomes.

Medical alert card: a valuable tool in the management of Hirschsprung's-associated enterocolitis from parental perspective.

PURPOSE: Awareness of Hirschsprung's-associated enterocolitis (HAEC) among patient's families and medical staff can lead to prompt recognition of symptoms and earlier implementation of management. We designed an HAEC medical alert card to raise awareness of HAEC among medical staff and carers of children with Hirschsprung's disease (HD). Our aim was to investigate parental opinion on the utility of this tool. METHODS: All patients diagnosed with HD in two institutions over a period of 14 years received an HAEC alert card and were invited to answer a 1-year follow-up structured questionnaire. RESULTS: A total of 123 patients received an HAEC card. The response rate for the follow-up questionnaire was 62% (n = 76). The majority 96% (n = 73) of the responders considered the card useful. A total of 89% (n = 68) of patients or parents stated that they carry the card with them, while 39% (n = 30) of them have used it on 57 occasions. The majority (83%; n = 25) of these declared that, when presented, the card increased awareness among medical staff and on 53% (n = 16) occasions prompted contact with the tertiary centre. CONCLUSION: The HAEC medical card was found useful by most parents of HD patients. This tool increased awareness of HAEC and improved communication between peripheral hospitals and tertiary paediatric institutions. Therefore, we feel the HAEC alert card may be used in institutions with high HD addressability.

Colectomies in children with inflammatory bowel disease: a national referral centre experience.

OBJECTIVES: Few studies have reported on the utility and efficacy of laparoscopic colectomy in the paediatric population. We aim to compare the characteristics and outcomes of children with inflammatory bowel disease (IBD) who underwent open vs laparoscopic treatment at our centre. METHODS: A 10-year retrospective review was performed. Collected data included demographics, indication for surgery, operative characteristics, histopathology results, post-operative course and peri-operative complications. RESULTS: A total of 58 patients underwent subtotal colectomy for IBD, with 38 laparoscopic procedures. The cohort included 33 males and 25 females with a mean age at surgery of 12.9 ± 3.3 years. The pre-operative diagnosis was ulcerative colitis in n = 41, Crohn's disease in n = 5 and indeterminate colitis in n = 11. There was an 84.2% concordance between the pre-operative and the post-operative histological diagnoses. Overall, 34 (58.6%) patients had complications, of which 19 (32.7%) patients required return to theatre. The complication rate was significantly smaller for laparoscopic compared to open procedures (42.1% vs 75%) as well as for elective compared with emergency colectomies (38.4% vs 75%). Four patients (10.5%) required conversion to open approach. CONCLUSIONS: Laparoscopic approach is feasible and safe in most paediatric patients with IBD and has a lower complication rate and better recovery than open procedures, especially when performed in an elective setting.

Pigeon chest: comparative analysis of surgical techniques in minimal access repair of pectus carinatum (MARPC).

BACKGROUND: After minimally invasive repair for pectus excavatum (MIRPE), similar procedures for pectus carinatum were developed. This study aimed to analyse the various published techniques of minimal access repair for pectus carinatum (MARPC) and compare the outcomes. DATA SOURCES: Literature was reviewed on PubMed with the terms "pectus carinatum", "minimal access repair", "thoracoscopy" and "children". RESULTS: Twelve MARPC techniques that included 13 articles and 140 patients with mean age 15.46 years met the inclusion criteria. Success rate of corrections was n = 125, about 89% in cumulative reports, with seven articles reporting 100%. The complication rate was 39.28%. Since the pectus bar is placed over the sternum and has a large contact area, skin irritation was the most frequent morbidity (n = 20, 14.28%). However, within the complication group (n = 55), wire breakage (n = 21, 38.18%) and bar displacement (n = 10, 18.18%) were the most frequent complications. Twenty-two (15.71%) patients required a second procedure. Recurrences have been reported in four of twelve techniques. There were no lethal outcomes. CONCLUSIONS: MARPC techniques are not standardized, as MIRPE are, so comparative analysis is difficult as the only common denominator is minimal access. Surgical morbidity is high in MARPC and affects > 2/3rd patients with about 15% requiring surgery for complication management.