Image-guided core-needle or surgical biopsy for neuroblastoma diagnosis in children: A systematic review and meta-analysis from the International Society of Pediatric Surgical Oncology (IPSO).

BACKGROUND: Image-guided core-needle biopsy (IGCNB) is a widely used and valuable clinical tool for tissue diagnosis of pediatric neuroblastoma. However, open surgical biopsy remains common practice even if children undergo more invasive and painful procedures. This review aims to determine the diagnostic accuracy and safety of IGCNBs in pediatric patients with neuroblastoma. METHODS: We conducted a systematic review of peer-reviewed original articles published between 1980 and 2023, by searching "pediatric oncology," "biopsy," "interventional radiology," and "neuroblastoma." Exclusion criteria were patients older than 18 years, studies concerning non-neurogenic tumors, case reports, and language other than English. Both the systematic review and meta-analysis were conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. RESULTS: A total of 533 abstracts articles were analyzed. Of these, eight retrospective studies met inclusion criteria (490 infants, 270 surgical biopsies [SB], 220 image-guided biopsies). Tissue adequacy for primary diagnosis (SB: n = 265, 98%; IGCNB: n = 199, 90%; p = .1) and biological characterization (SB: n = 186, 95%; IGCNB: n = 109, 89%; p = .15) was similar with both biopsy techniques, while intraoperative transfusion rate (SB: n = 51, 22%; IGCNB: n = 12, 6%; p = .0002) and complications (%) (SB: n = 58, 21%; IGCNB: n = 14, 6%; p = .005) were higher with surgical biopsy. Length of stay was similar in both groups; however, no additional data about concurrent diagnostic or treatment procedures were available in the analyzed studies. CONCLUSIONS: IGCNB is a safe and effective strategic approach for diagnostic workup of NB and should be considered in preferance to SB wherever possible.

Identification of Pediatric Tumors Intraoperatively Using Indocyanine Green (ICG).

BACKGROUND: Fluorescence-guided surgery (FGS) with indocyanine green (ICG) is increasingly applied in pediatric surgical oncology. However, FGS has been mostly reported in case studies of liver or renal tumors. Applying novel technologies in pediatric surgical oncology is more challenging than in adult surgical oncology due to differences in tumor histology, biology, and fewer cases. No consensus exists on ICG-guided FGS for surgically managing pediatric solid tumors. Therefore, we reviewed the literature and discuss the limitations and prospects of FGS. METHODS: Using PRISMA guidelines, we analyzed articles on ICG-guided FGS for childhood solid tumors. Case reports, opinion articles, and narrative reviews were excluded. RESULTS: Of the 108 articles analyzed, 17 (14 retrospective and 3 prospective) met the inclusion criteria. Most (70.6%) studies used ICG to identify liver tumors, but the timing and dose of ICG administered varied. Intraoperative outcomes, sensitivity and specificity, were reported in 23.5% of studies. Fluorescence-guided liver resections resulted in negative margins in 90-100% of cases; lung metastasis was detected in 33% of the studies. In otolaryngologic malignancies, positive margins without fluorescence signal were reported in 25% of cases. Overall, ICG appeared effective and safe for lymph node sampling and nephron-sparing procedures. CONCLUSIONS: Despite promising results from FGS, ICG use varies across the international pediatric surgical oncology community. Underreported intraoperative imaging outcomes and the diversity and rarity of childhood solid tumors hinder conclusive scientific evidence supporting adoption of ICG in pediatric surgical oncology. Further international collaborations are needed to study the applications and limitations of ICG in pediatric surgical oncology.

Minimal access surgery for congenital diaphragmatic hernia: surgical tricks to facilitate anchoring the patches to the ribs.

OBJECTIVE: Minimal Access Surgery (MAS) for Congenital Diaphragmatic Hernia (CDH) repair is well described, yet only a minority of surgeons report this as their preferred operative approach. Some surgeons find it particularly difficult to repair the defect using MAS and convert to laparotomy when a patch is required. We present in this study our institutional experience in using an easy and relatively cheap methodology to anchor the patch around the ribs using Endo Close™. This device has an application in MAS for tissue approximation using percutaneous suturing. METHODS AND TECHNIQUE: We retrospectively reviewed our database for patients undergoing MAS repair of CDH between 2009 and 2021. Outcome measures included length of surgery and recurrence rates after patch repair. Endo Close™ was used in all patients who required patch repair. We declare no conflict of interest and to not having received any funding from Medtronic (UK). The technique is as follows: (1) The edges of the diaphragm are delineated by dissection. When primary suture repair of the diaphragmatic hernia was unfeasible without tension, a patch was used. (2) The patch is anchored in place by two corner stitches at the medial and lateral borders. (3) The posterior border of the patch is fixed to the diaphragmatic edge by running or interrupted stitches. (4) For securing the anterior border, a non-absorbable suture is passed through the anterior chest wall and the patch border is taken with intracorporeal instruments. (5) Without making another stab incision, the Endo Close™ is tunnelled subcutaneously through the anterior chest wall. (6) The suture end is pulled through the Endo Close™ and the knot is tied around the rib. This procedure can be performed as many times as required to secure the patch. RESULTS: 58 patients underwent MAS surgery for repair of CDH between 2009 and 2021. 48 (82%) presented with a left defect. 34 (58%) had a patch repair. The length of patch repair surgery for CDH ranged from 100-343 min (median 197). There was only one patient (3%) in the patch repair cohort that had a recurrent hernia, diagnosed 12 months after the initial surgery. CONCLUSIONS: In our experience, MAS repair of CDH is feasible. We adopted a low threshold in using a patch to achieve a tension-free repair. We believe that the Endo Close™ is a cheap and safe method to help securing the patch around the ribs.

Thoracoscopic vs open repair of congenital diaphragmatic hernia after extracorporeal membrane oxygenation: a comparison of intra-operative data.

PURPOSE: ECMO is an escalation treatment for hypoxic respiratory failure in patients with CDH. Open repair has been advocated after ECMO indicating that physiological changes associated to thoracoscopic repair were not well tolerated. METHODS: We have performed a retrospective review of all patients who underwent ECMO prior CDH repair over a 7 year period (2015-2021). Outcome measures were intra-operative Ph, PCO2, PO2 and FiO2 at 30 min, 1 h 30 min, and 2 h 30 min of surgery, operative time and recurrence rate. Data are shown in median (range). RESULTS: Eleven patients required ECMO prior CDH repair. Six of eleven (55%) were done thoracoscopically (Group A) and five of eleven (45%) via laparotomy (Group B). Two of six (33%) patients (Group A) were converted to a laparotomy, one of six (16%) patient developed a recurrence, and there was no recurrence in Group B. Two of five (40%) patients died within the first 60 days of life, whilst there was no death in Group A. Intra-operative values are shown below. CONCLUSION: Whilst this is a preliminary report of a limited number of patients, there is no obvious difference of intra-operative blood gas parameters during surgical repair in patients after ECMO. Thoracoscopic CDH repair may be considered in patients after ECMO.

Ultrasonographic features associated with previous torsion and the impact of surgery in managing neonatal ovarian cysts: a 20-year single-centre retrospective study.

PURPOSE: To identify markers of previous ovarian torsion and outline the outcomes according to US appearance and operative management. METHODS: A retrospective single-centre review of neonatal ovarian cysts from January 2000 to January 2020. Data on postnatal cyst size and sonographic features and operative treatment were co-related with outcomes of ovarian loss and histology. RESULTS: 77 females were included with 22 simple and 56 complex cysts, one patient had bilateral cysts. 9/22 (41%) simple cysts regressed spontaneously in a median of 13 weeks (8-17). Complex cysts regressed spontaneously less frequently, 7/56(12%, P = 0.01), in 13 weeks (7-39). 38/56 (68%) complex and 12/22 (55%) simple cysts were treated operatively. 21/22 (95%) ovaries with initially simple cyst were salvaged compared to 20/56(36%) with initially complex cyst (P < 0.001). A fluid-debris level in 23/26 complex cysts was most associated with ovarian loss (P = 0.0006). Presence of viable ovarian stromal tissue was seen in 8/20 (40%) excised specimens during ovarian sparing procedures and in 5/30 (17%) oophorectomies for necrotic appearing ovaries. CONCLUSIONS: Fluid-debris level on US is significantly associated with ovarian loss likely due to previous torsion. Simple cysts are viable and often regress spontaneously. The finding of viable ovarian stromal tissue in resected specimens supports attempting ovarian preservation wherever possible.

Laparoscopic inguinal hernia repair (LIHR): the benefit of the double stitch in the largest single-center experience.

AIM: To review our experience of laparoscopic inguinal hernia repair (LIHR) regarding complication rates, the practice of closing the asymptomatic patent processes vaginalis (PPV), and comparison of complication rates between pre-term (< 37 week gestation) and term infants. METHODS: Retrospective review of LIHR performed between 2009 and 2021. Repair was performed by intracorporal single or double purse string/purse string + Z-stitch using a non-absorbable suture. Data were analyzed using Chi-squared/Mann-Whitney and are quoted as median (range). RESULTS: 1855 inguinal rings were closed in 1195 patients (943 (79%) male). 1378 rings (74%) were symptomatic. 492 (41%) patients were pre-term. Corrected gestational age at surgery was 55 weeks (31 weeks-14.6 years) and weight 5.9 kg (1-65.5). Closure of contralateral PPV was higher in the premature group (210/397 [53%] vs. 265/613 [43%] p = 0.003). There were 23 recurrences in 20 patients, of whom 10 had been born prematurely. The only factor significantly associated with a lower recurrence was use of a second stitch (p = 0.011). CONCLUSION: This is the largest single-center reported series of LIHR. LIHR is safe at any age, the risk of recurrence is low, and can be corrected by re-laparoscopy. Use of a Z-stitch or second purse string is associated with a significantly lower rate of recurrence.

Impact of gastrointestinal comorbidities in patients with right and left atrial isomerism.

BACKGROUND AND AIM: Heterotaxy syndrome, being right atrial isomerism (RAI) or left atrial isomerism (LAI), often presents with Congenital Heart Disease (CHD). Intestinal abnormalities, including malrotation are common. We assessed the spectrum of gut abnormalities and their impact on medium-term outcome in a cohort of patients with fetal and postnatal diagnoses of heterotaxy syndrome. METHODS: We reviewed the cardiology records of heterotaxy syndrome patients from two centres, regarding the presence of CHD, time for cardiac intervention, presence of gastrointestinal abnormalities, and type/time of surgery. A questionnaire about gastrointestinal status was sent to patients <18 years old. Kaplan-Meier curves were derived for survival data and freedom from intervention. RESULTS: Data were included for 182 patients (49 RAI and 133 LAI) of 247 identified. Questionnaires were sent to 77 families and 47 replied. CHD was present in all RAI and 61.7% of LAI cases. Thirty-eight patients had abdominal surgery (20.9%), similar for RAI and LAI (20.4% versus 21%, p> 0.99): Ladd procedure in 17 (44.7%), non-Ladd in 12 (31.5%), and both procedures in 9 (23.7%). Ten-year freedom from Ladd procedure for all was 86% for the whole cohort (RAI = 87%; LAI = 85%, p = 0.98). Freedom from any gastrointestinal surgery at 10 years was 79% for the whole cohort (RAI = 77%; LAI = 80%, p = 0.54). Ten-year freedom from cardiac surgery was 31% for the whole cohort (RAI = 6%; LAI = 43%, p < 0.0001). CONCLUSIONS: In our cohort, one in five patients required abdominal surgery, mostly in their first year of life, similar for RAI and LAI. Between 1 and 10 years of follow-up, the impact of gastrointestinal abnormalities on outcome was minimal. Medium term survival was related to CHD.

Maintaining a minimally invasive surgical service during a pandemic.

PURPOSE: The safety of minimally invasive surgery (MIS) was questioned in the COVID-19 pandemic due to concern regarding disease spread. We continued MIS during the pandemic with appropriate protective measures. This study aims to assess the safety of MIS compared to Open Surgery (OS) in this setting. METHODS: Operations performed during 2020 lockdown were compared with operations from the same time-period in 2019 and 2021. Outcomes reviewed included all complications, respiratory complications, length of stay (LOS) and operating surgeon COVID-19 infections (OSI). RESULTS: In 2020, MIS comprised 52% of procedures. 29% of MIS 2020 had complications (2019: 24%, 2021: 15%; p = 0.08) vs 47% in OS 2020 (p = 0.04 vs MIS). 8.5% of MIS 2020 had respiratory complications (2019: 7.7%, 2021: 6.9%; p = 0.9) vs 10.5% in OS 2020 (p = 0.8 vs MIS). Median LOS[IQR] for MIS 2020 was 2.5[6] days vs 5[23] days in OS 2020 (p = 0.06). In 2020, 2 patients (1.2%) were COVID-19 positive (MIS: 1, OS: 1) and there were no OSI. CONCLUSION: Despite extensive use of MIS during the pandemic, there was no associated increase in respiratory or other complications, and no OSI. Our study suggests that, with appropriate protective measures, MIS can be performed safely despite high levels of COVID-19 in the population.

The Impact of Spermidine on C2C12 Myoblasts Proliferation, Redox Status and Polyamines Metabolism under H2O2 Exposure.

A central feature of the skeletal muscle is its ability to regenerate through the activation, by environmental signals, of satellite cells. Once activated, these cells proliferate as myoblasts, and defects in this process profoundly affect the subsequent process of regeneration. High levels of reactive oxygen species such as hydrogen peroxide (H2O2) with the consequent formation of oxidized macromolecules increase myoblasts' cell death and strongly contribute to the loss of myoblast function. Recently, particular interest has turned towards the beneficial effects on muscle of the naturally occurring polyamine spermidine (Spd). In this work, we tested the hypothesis that Spd, upon oxidative challenge, would restore the compromised myoblasts' viability and redox status. The effects of Spd in combination with aminoguanidine (Spd-AG), an inhibitor of bovine serum amine oxidase, on murine C2C12 myoblasts treated with a mild dose of H2O2 were evaluated by analyzing: (i) myoblast viability and recovery from wound scratch; (ii) redox status and (iii) polyamine (PAs) metabolism. The treatment of C2C12 myoblasts with Spd-AG increased cell number and accelerated scratch wound closure, while H2O2 exposure caused redox status imbalance and cell death. The combined treatment with Spd-AG showed an antioxidant effect on C2C12 myoblasts, partially restoring cellular total antioxidant capacity, reducing the oxidized glutathione (GSH/GSSG) ratio and increasing cell viability through a reduction in cell death. Moreover, Spd-AG administration counteracted the induction of polyamine catabolic genes and PA content decreased due to H2O2 challenges. In conclusion, our data suggest that Spd treatment has a protective role in skeletal muscle cells by restoring redox balance and promoting recovery from wound scratches, thus making myoblasts able to better cope with an oxidative insult.

Comparison Between Diffusion-Weighted MRI and 123 I-mIBG Uptake in Primary High-Risk Neuroblastoma.

BACKGROUND: High-risk neuroblastoma (HR-NB) has a variable response to preoperative chemotherapy. It is not possible to differentiate viable vs. nonviable residual tumor before surgery. PURPOSE: To explore the association between apparent diffusion coefficient (ADC) values from diffusion-weighted magnetic resonance imaging (DW-MRI), 123 I-meta-iodobenzyl-guanidine (123 I-mIBG) uptake, and histology before and after chemotherapy. STUDY TYPE: Retrospective. SUBJECTS: Forty patients with HR-NB. FIELD STRENGTH/SEQUENCE: 1.5T axial DW-MRI (b = 0,1000 s/mm2 ) and T2 -weighted sequences. 123 I-mIBG scintigraphy planar imaging (all patients), with additional 123 I-mIBG single-photon emission computed tomography / computerized tomography (SPECT/CT) imaging (15 patients). ASSESSMENT: ADC maps and 123 I-mIBG SPECT/CT images were coregistered to the T2 -weighted images. 123 I-mIBG uptake was normalized with a tumor-to-liver count ratio (TLCR). Regions of interest (ROIs) for primary tumor volume and different intratumor subregions were drawn. The lower quartile ADC value (ADC25prc ) was used over the entire tumor volume and the overall level of 123 I-mIBG uptake was graded into avidity groups. STATISTICAL TESTS: Analysis of variance (ANOVA) and linear regression were used to compare ADC and MIBG values before and after treatment. Threshold values to classify tumors as viable/necrotic were obtained using ROC analysis of ADC and TLCR values. RESULTS: No significant difference in whole-tumor ADC25prc values were found between different 123 I-mIBG avidity groups pre- (P = 0.31) or postchemotherapy (P = 0.35). In the "intratumor" analysis, 5/15 patients (prechemotherapy) and 0/14 patients (postchemotherapy) showed a significant correlation between ADC and TLCR values (P < 0.05). Increased tumor shrinkage was associated with lower pretreatment tumor ADC25prc values (P < 0.001); no association was found with pretreatment 123 I-mIBG avidity (P = 0.17). Completely nonviable tumors had significantly lower postchemotherapy ADC25prc values than tumors with >10% viable tumor (P < 0.05). Both pre- and posttreatment TLCR values were significantly higher in patients with >50% viable tumor than those with 10-50% viable tumor (P < 0.05). DATA CONCLUSION: 123 I-mIBG avidity and ADC values are complementary noninvasive biomarkers of therapeutic response in HR-NB. LEVEL OF EVIDENCE: 4. TECHNICAL EFFICACY STAGE: 3.

Congenital intrathoracic stomach can be safely managed laparoscopically.

PURPOSE: Congenital intrathoracic stomach (CIS) is an uncommon pediatric surgical diagnosis where > 2/3rd of the stomach lies within the chest through a hiatus defect. We reviewed our recent experience with this condition. METHODS: A retrospective single-center review of children with a diagnosis of CIS (2007-2018) was performed. Patient demographics, presentation, imaging and management were assessed. Results are expressed as median (range). RESULTS: Eleven patients (6 girls) were identified with onset of symptoms at 2 (0-26) months of age. Presenting symptoms were vomiting (8/11), respiratory symptoms (4/11) and failure to thrive (2/11). Two patients had Marfan's syndrome. An upper gastrointestinal contrast study demonstrated gastric herniation in all. All were corrected laparoscopically with hiatus repair and fundoplication [age at surgery 10.5 (1.5-34.5) months]. A concurrent gastrostomy was done in children ≤ 6 months (n = 5). Enteral feeds were commenced on post-operative day one in 9 and second post-operative day in 2. At 7 (0-95) months follow-up, all were on full enteral feeds. One patient had a recurrence 6 months post-operatively, which was re-operated laparoscopically without any further recurrence. CONCLUSION: This is the largest reported series of children with CIS. All could be managed laparoscopically with no conversions and a low recurrence.

The emerging role of immunothrombosis in paediatric conditions.

BACKGROUND: Immunothrombosis is a physiological process based on the release of neutrophil extracellular traps (NETs) to immobilise, contain and kill bacteria. This is an innate immune response in which the local activation of blood coagulation exerts the critical protective function during microbial infection. In recent years, there has been much interest in the adult literature about the key role of immunothrombosis in pathologic states including thrombosis, cancer, sepsis and trauma. Currently, little research has been done into its role in paediatric conditions. METHODS: We conducted a literature search of the National Library of Medicine (MEDLINE/PubMed) from the years 2000 to May 2018 and qualitatively identified 24 relevant papers. References of articles included for full-text review were checked for relevant publications. RESULTS: Our aim is to summarise the most relevant evidences regarding an excessive production or defective removal of NETs in paediatric conditions. In particular, we have divided the role of immunothrombosis into acute (sepsis, necrotising enterocolitis, otitis media, neonatal arterial ischaemic stroke, haemolytic anaemic diseases) and chronic (systemic lupus erythematous, type 1 diabetes mellitus, respiratory diseases, graft-versus-host disease) conditions to find important similarities in their pathophysiology. CONCLUSION: The field of immunothrombosis in paediatric conditions is still in its infancy. We have presented multiple pathways of NET-induced disease together with possible areas of future research and treatments.

Prenatal detection of esophageal atresia: A systematic review and meta-analysis.

INTRODUCTION: The primary aim of this systematic review was to quantify the diagnostic performance of ultrasound, magnetic resonance imaging and amniotic fluid analysis in detecting esophageal atresia prenatally. The secondary aim was to explore the accuracy of individual imaging signs in identifying this anomaly. MATERIAL AND METHODS: MEDLINE, Embase and Cochrane databases were searched. The quality of studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio for the predictive accuracy of ultrasound, magnetic resonance imaging and amniotic fluid analysis in detecting esophageal atresia were computed using the hierarchical summary receiver operating characteristic or DerSimonian-Laird random-effect model, according to the number of studies included in each analysis. PROSPERO registration number: CRD42017055828. RESULTS: Twenty studies (73 246 fetuses, 1760 affected by esophageal atresia) were included. Overall, prenatal ultrasound had a sensitivity of 31.7%. Only two studies reported all data for diagnostic accuracy; based on these studies, prenatal ultrasound had a sensitivity of 41.9%, a specificity of 99.9%, a positive likelihood ratio of 88.1, a negative likelihood ratio of 0.58 and a diagnostic odds ratio of 153.7. Prenatal ultrasound correctly identified 77.9% of cases with esophageal atresia and 21.9% esophageal atresia with an associated tracheo-esophageal fistula. Polyhydramnios was present in 56.3% of cases affected by esophageal atresia, and a small or absent stomach was identified in 50.0% cases. When performed following a suspicious ultrasound, fetal magnetic resonance imaging had an good overall diagnostic accuracy for esophageal atresia, with a sensitivity of 94.7%, a specificity of 89.3%, a positive likelihood ratio of 8.8, a negative likelihood ratio of 0.06 and a diagnostic odds ratio of 149.3. Finally, amniotic fluid analysis with an esophageal atresia index ≥3 had a sensitivity of 89.9% and a specificity of 99.6% in detecting esophageal atresia. CONCLUSIONS: Ultrasound alone is a poor diagnostic tool for identifying esophageal atresia prenatally, and has a high rate of false positive diagnoses. Magnetic resonance imaging and amniotic fluid analysis have high diagnostic accuracy for esophageal atresia. We would recommend their use following a suspicious ultrasound.

Pediatric Emergency Appendectomy and 30-Day Postoperative Outcomes in District General Hospitals and Specialist Pediatric Surgical Centers in England, April 2001 to March 2012: Retrospective Cohort Study.

OBJECTIVE: To compare trends in pediatric emergency appendectomy and adverse surgical outcomes between district general hospitals (DGHs) and specialist pediatric centers (SPCs). BACKGROUND: In the past decades in England, a significant reduction in the number of children operated by adult general surgeons has raised concerns about their surgical outcomes compared with specialist pediatric surgeons. METHODS: Using Hospital Episode Statistics, we analyzed patient-level data between April 2001 and March 2012. Main inclusion criteria were children younger than 16 years admitted to NHS-England hospitals for an emergency appendectomy. Main outcomes were annual age-sex adjusted appendectomy rates and postoperative risk of readmission, complication, and reintervention. RESULTS: A total of 83,679 emergency pediatric appendectomies were performed in 21 SPCs and 183 DGHs in England. SPCs performed only 18% of these operations (15,002). Annual age-sex standardized appendectomy rates fell from 87 to 68 per 100,000 population at an estimated 2% (rate ratio, 0.98) fall per annum. This was accompanied by a national annual increased risk of negative appendectomy, complication, reintervention, and readmission (adjusted odds ratio: 1.02, 1.03, 1.04, and 1.06, respectively). Children who had appendectomies in DGHs had 28% more negative appendectomies, 11% more complications, and 11% more readmissions than those in SPCs. Postoperative length of stay was double in SPCs compared with DGHs (median, 4 vs 2 days). CONCLUSIONS: Major reductions in the number of pediatric emergency appendectomies in England over the past decade were associated with an overall increase in adverse surgical outcomes. Children operated in DGHs have more reinterventions, complications, and negative appendectomy rates than those operated in SPCs.

Screening and Treatment of Intestinal Rotational Abnormalities in Heterotaxy: A Systematic Review and Meta-Analysis.

OBJECTIVE: To assess the role of screening and prophylactic surgery for intestinal rotational abnormalities (IRAs) in asymptomatic patients with heterotaxy. STUDY DESIGN: PubMed, Embase, and Cinahl were searched electronically to determine the overall incidence of IRAs in heterotaxy; the detection rate of IRAs associated with screening; the incidence of midgut volvulus in patients without screening; and the incidence of morbidity and mortality after prophylactic and emergency Ladd procedures. Relevant data were computed with a meta-analysis of proportions. Between-study heterogeneity was assessed with the I(2) statistic. RESULTS: From 276 papers identified, 24 studies with a total of 1433 patients with heterotaxy were included for systematic review. No randomized study was identified. True incidence of IRA in heterotaxy could not be ascertained through meta-analysis. In patients who underwent screening, the incidence of IRA was 58%. Acute midgut volvulus occurred in 5.8% of those who did not undergo screening. Postoperative mortality after Ladd procedure mainly was associated with cardiac insufficiency, and overall it was significantly greater in the emergency group compared with the prophylactic group (18% vs 5.6%). The complication rate also was greater in case of emergency vs prophylactic abdominal surgery (27% vs 16%); adhesional small bowel obstruction was the most common complication overall (6%). CONCLUSION: The screen-detected incidences of IRA and acute midgut volvulus were significantly greater in heterotaxy than the normal population. Prophylactic Ladd procedure was associated with less morbidity and mortality compared with emergency surgery. A long-term prospective randomized trial is needed to define the indication for screening and prophylactic treatment of IRA in heterotaxy.

Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review.

BACKGROUND: Anorectal malformations are a spectrum of congenital anomalies of the rectum with high infantile survival rates and variable outcomes. Long-term (>10 years old) active problems associated with this condition have been poorly investigated. OBJECTIVE: The purpose of this review was to systematically define the prevalence of the most common active long-term problems in patients with a history of anorectal malformation repair. DATA SOURCES: MEDLINE, EMBASE, and the Cochrane Library were searched electronically using the OVID search platform. STUDY SELECTION: Original articles from August 1, 1994, to October 20, 2015, that included outcome data for patients aged ≥10 years with anorectal malformation. Cloaca was excluded from the study. INTERVENTIONS: Prevalence estimates of anorectal malformations were obtained from published articles. CIs were ascertained in the logit scale after transforming prevalence into log odds and were then transformed into the original scale. The same method was used for subgroup analysis investigating high and low anorectal malformations. MAIN OUTCOME MEASURES: The overall prevalences of fecal, urinary, and sexual dysfunction were analyzed. RESULTS: Twelve studies including 455 patients with a history of anorectal malformation repair were included for analysis. The range of reported prevalence of long-term active problems was as follows: fecal incontinence, 16.7% to 76.7%; chronic constipation, 22.2% to 86.7%; urinary incontinence, 1.7% to 30.5%; ejaculatory dysfunction, 15.6% to 41.2%; and erectile dysfunction, 5.6% to 11.8%. LIMITATIONS: The study was limited by its retrospective, small size; multiple complex associated anomalies often not reported; and heterogeneous composition of patients with limited stratification analysis. CONCLUSIONS: There is an overall high prevalence of active long-term issues in adolescents and young adults with anorectal malformations. Additional multicenter research is needed to define characteristics and predictors of long-term outcome, to implement effective follow-up, and to transition to adult health care.

Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis.

OBJECTIVES: Coagulopathy and mesenteric thrombosis are common in premature neonates with necrotizing enterocolitis (NEC). This pilot study aimed to investigate the hypothesis that there are changes in the gene expression related to the coagulation and anticoagulation systems in NEC. METHODS: Consecutive neonates (n = 11) with NEC (Bell stages 2-3) were recruited. Two comparison groups, matched for birth weight and corrected gestational age, were selected based on the absence of inflammation and coagulopathy (healthy control, n = 10), or the presence of a confirmed blood infection (sepsis control, n = 12). A pathway-specific quantitative polymerase chain reaction array was used to determine the expression of 94 genes involved in human blood coagulation and anticoagulation cascade. RESULTS: Twelve genes of the coagulation and anticoagulation systems were significantly altered in the patients with NEC compared with healthy controls. In particular, neutrophil elastase, CD63, PROS1, HGF, and F12 were significantly upregulated (mean fold changes [FCs] +2.74, P < 0.05) with an overall procoagulant effect; MFGE8, factor II (thrombin) receptor-like 1 (F2RL1), FGL2, PLAT, PROCR, SERPIND1, and HNF4A were significantly downregulated (mean FCs -2.45, P < 0.05) with a reduction in fibrinolysis and endothelial regeneration. In the comparison between NEC and sepsis, we did observe a significant difference in expression of F2RL1 (FC -2.50, P = 0.01). CONCLUSIONS: We have identified potential biomarkers associated with coagulopathy and disease progression in NEC. In particular, the overall procoagulant status, at the transcriptional level, should be further investigated to unveil molecular mechanisms leading to intestinal necrosis, multiorgan failure, and death.

Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case.

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (MIM 109 400), is a rare genetic condition with a prevalence between 1/56 000 and 1/256 000. Clinical presentation is usually characterized by multiple basal cell carcinomas, odontogenic jaw keratocysts, palmar or plantar pitting and skeletal anomalies. It is furthermore associated with the development of various tumors beside basal cell carcinoma, among which medulloblastoma is the most frequent. Increased incidence of other mesenchymal neoplasms, however, is also well known: recently the first adult case of gastric leiomyoma in GGS was reported, and the inclusion of "fibromas and leiomyomas of other organs" in the minor criteria for the diagnosis was suggested. We report the first case of a pediatric patient with GGS who also developed a gastric leiomyoma: the present case illustrates the need for this change to the diagnostic criteria to encompass the highly variable presentations and phenotype in GGS.