Differences in the Outcome of Colonic Atresia with and without Abdominal Wall Defects.

INTRODUCTION: Colonic atresia (CA) is a very rare disease. Two entities of CA can be differentiated: primary CA and CA with abdominal wall defects (AWD). This study aimed to investigate the differences between these two entities, especially for long-term outcomes. MATERIALS AND METHODS: Data from the major health insurance company (AOK) were analyzed. Sixty-two patients with ICD-10 codes Q42.1-2 and Q42.8-9 (atresia of the colon and rectum) who underwent surgery within 10 days after their first admission between 2007 and 2016 were obtained. RESULTS: Twenty-nine patients had an AWD, and 33 patients had primary colonic atresia (PCA). Significant differences between patients with PCA and AWD were found regarding prematurity but not for other concomitant malformations. Ostomy was the initial therapy of choice for 87.9% (29/33) of patients with PCA and 65.5% (19/29) with AWD. Central venous access was significantly more often in patients with AWD. Overall, patients with CA have an excellent short-term outcome. The 1-year mortality was 3% (1/33) in PCA and 6.9% (2/29) in AWD. Delayed management did not lead to higher mortality. Higher number of admission days and higher hospital costs were related to gastrostomy and short bowel in the long term. CONCLUSION: The long-term outcome of CA is related to short bowel and need for initial gastrostomy but not related to AWD, prematurity, or associated anomalies.

Prenatal Detection of Congenital Duodenal Obstruction-Impact on Postnatal Care.

BACKGROUND: Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble sign are visible. Prenatal diagnosis should prompt respective prenatal care, including surgery. The aim of this study was to investigate the rate and importance of prenatally diagnosed duodenal obstruction, comparing incomplete and complete duodenal obstruction. METHODS: A retrospective, single-center study was performed using data from patients operated on for duodenal obstruction between 2004 and 2019. Prenatal ultrasound findings were obtained from maternal logbooks and directly from the investigating obstetricians. Postnatal data were obtained from electronic charts, including imaging, operative notes and follow-up. RESULTS: A total of 33/64 parents of respective patients agreed to provide information on prenatal diagnostics. In total, 11/15 patients with complete duodenal obstruction and 0/18 patients with incomplete duodenal obstruction showed typical prenatal features. Prenatal diagnosis prompted immediate surgical treatment after birth. CONCLUSION: Prenatal diagnosis of congenital duodenal obstruction is only achievable in cases of complete congenital duodenal obstruction by sonographic detection of the pathognomonic double bubble sign. Patients with incomplete duodenal obstruction showed no sign of duodenal obstruction on prenatal scans and thus were diagnosed and treated later.

Comparison of perioperative outcomes between laparoscopic and open partial splenectomy in children and adolescents.

BACKGROUND: In order to avoid consequences of total splenectomy, partial splenectomy (PS) is increasingly reported. The purpose of this study was to compare perioperative outcomes of laparoscopic PS (LPS) and open PS (OPS) in children and adolescents. AIM: To compare perioperative outcomes of patients with LPS and OPS. METHODS: After institutional review board approval, a total of 26 patients that underwent LPS or OPS between January 2008 and July 2018 were identified from the database of our tertiary referral center. In total, 10 patients had LPS, and 16 patients underwent OPS. Blood loss was calculated by Mercuriali's formula. Pain scores, analgesic requirements and complications were assessed. The Wilcoxon rank sum test was used for comparison. To compare categorical variables, Fisher's exact test was applied. RESULTS: LPS was performed in 10 patients; 16 patients had OPS. Demographics (except for body mass index and duration of follow-up), indicating primary disease, preoperative spleen size and postoperative spleen volume, perioperative hematological parameters, postoperative pain scores, analgesic requirements, adverse events according to the Clavien-Dindo classification and the comprehensive complication index, median time from operation to initiation of feeds, median time from operation to full feeds, median time from operation to mobilization and median length of hospital stay did not differ between LPS and OPS. Median (range) operative time (min) was longer in LPS compared to the OPS group [185 (135-298) vs 144 (112-270), respectively; P = 0.048]. Calculated perioperative blood loss (mL of red blood cell count) was higher in the LPS group compared to OPS [87 (-45-777) vs -37 (-114-553), respectively; P = 0.039]. CONCLUSION: This is the first study that compared outcomes of LPS and OPS. Both operative approaches had comparable perioperative outcomes. LPS appears to be a viable alternative to OPS.

Jejunoileal Atresia: A National Cohort Study.

Purpose: Jejunoileal atresia (JIA) is a rare disease. We aimed to determine the overall incidence of this malformation and associated malformations in a national cohort. Furthermore, we compared the treatment results of this cohort with the current literature. Methods: Data from the major health insurance company, which covers ~30% of the German population, were analyzed. All patients with ICD-10-Code Q41.1-9 (atresia of jejunum, ileum, other parts and not designated parts of the small bowel) who underwent any surgical procedure for small bowel were analyzed in a 10-year period between 2007 and 2016. Results: A total of 435 patients were included in the study. The incidence was 2.1 per 10,000 live births. The male:female ratio was 1:2. Sixty-four percent were premature, 21% had associated cardiac anomalies, 16% had abdominal wall defects, 7% had urogenital malformations, and 7% had cystic fibrosis. Sixty percent of all patients with jejunoileal atresia, 57% of patients with accompanying abdominal wall defects and 72% of patients with associated cystic fibrosis required ostomy as the initial procedure. In 25% of all patients, only one intestinal operation was coded. In 39% of patients, two operations were coded. Twelve percent of all patients required feeding gastrostomy or jejunostomy. Sixteen percent of all patients presented with liver-related complications, i.e., cholestasis or liver insufficiency. Six patients underwent an intestinal lengthening procedure (2 Bianchi, 4 STEP). In five patients, initial lengthening was performed within 1 year after the first intestinal operation. Mortality until 1 year after initial surgery was 5%. Of those who died, 88% were premature, 34% had cardiac anomalies and 16% had abdominal wall defects. None had cystic fibrosis. Patients with ostomy significantly more often needed operative central venous line or operative feeding tube. Short bowel was coded significantly more often in these patients. Conclusion: Patients with JIA present with low mortality. The rate of ostomies is higher than in literature. To give clinical recommendations for the initial surgical approach, further clinical research is needed.

Epidemiology and One-Year Follow-Up of Neonates with CDH-Data from Health Insurance Claims in Germany.

Congenital diaphragmatic hernia (CDH) is a major congenital malformation with high mortality. Outcome data on larger unselected patient groups in Germany are unavailable as there is no registry for CDH. Therefore, routine data from the largest German health insurance fund were analyzed for the years 2009-2013. Main outcome measures were incidence, survival and length of hospital stay. Follow-up was 12 months. 285 patients were included. The incidence of CDH was 2.73 per 10,000 live births. Overall mortality was 30.2%. A total of 72.1% of the fatalities occurred before surgery. Highest mortality (64%) was noted in patients who were admitted to specialized care later as the first day of life. Patients receiving surgical repair had a better prognosis (mortality: 10.8%). A total of 67 patients (23.5%) were treated with ECMO with a mortality of 41.8%. The median cumulative hospital stay among one-year survivors was 40 days and differed between ECMO- and non-ECMO-treated patients (91 vs. 32.5 days, p < 0.001). This is the largest German cohort study of CDH patients with a one-year follow-up. The ECMO subgroup showed a higher mortality. Another important finding is that delayed treatment in specialized care increases mortality. Prospective clinical registries are needed to elucidate the treatment outcomes in detail.

Ovarian lesions and tumors in infants and older children.

Objectives: Ovarian lesions are rare but frequent in children. Patients could present with abdominal pain, but ovarian lesions could also be incidentally found on ultrasound. Awareness is required in cases with acute, severe lower abdominal pain, as ovarian torsion could be the cause. Other lesions can be cysts or benign or malignant ovarian tumors. Thus, the aim of this paper is to review typical ovarian lesions according to age, imaging and laboratory findings, and surgical management. Methods: We retrospectively analysed the patient charts of 39 patients aged 10.4 ± 6.1 years (from 3 months to 18 years) with ovarian lesions treated in our institution between 01/2009 and 08/2020. All clinical and pathological findings of infants and children operated on for ovarian lesions were included. Results: Ovarian lesions in children younger than 2 years of age were typically ovarian cysts, and ovarian tumors were not observed in this age group. In older children over 10 years of age, tumors were more common - with mostly teratoma or other germ cell tumors, followed by epithelial tumors. Moreover, acute or chronic ovarian torsion was observed in all age groups. In general, ovarian tumors were much larger in size than ovarian cysts or twisted ovaries and eventually showed tumor marker expression of AFP or ß-HCG. Simple ovarian cysts or twisted ovaries were smaller in size. Surgery for all ovarian lesions should aim to preserve healthy ovarian tissue by performing partial ovariectomy. Conclusions: In adolescent girls with acute abdominal pain, immediate laparoscopy should be performed to rule out ovarian torsion. Careful imaging evaluation and the assessment of tumor markers should be performed in painless ovarian lesions to indicate an adequate surgical ovarian-sparing approach.

Characterization of the pathoimmunology of necrotizing enterocolitis reveals novel therapeutic opportunities.

Necrotizing enterocolitis (NEC) is a severe, currently untreatable intestinal disease that predominantly affects preterm infants and is driven by poorly characterized inflammatory pathways. Here, human and murine NEC intestines exhibit an unexpected predominance of type 3/TH17 polarization. In murine NEC, pro-inflammatory type 3 NKp46-RORγt+Tbet+ innate lymphoid cells (ILC3) are 5-fold increased, whereas ILC1 and protective NKp46+RORγt+ ILC3 are obliterated. Both species exhibit dysregulation of intestinal TLR repertoires, with TLR4 and TLR8 increased, but TLR5-7 and TLR9-12 reduced. Transgenic IL-37 effectively protects mice from intestinal injury and mortality, whilst exogenous IL-37 is only modestly efficacious. Mechanistically, IL-37 favorably modulates immune homeostasis, TLR repertoires and microbial diversity. Moreover, IL-37 and its receptor IL-1R8 are reduced in human NEC epithelia, and IL-37 is lower in blood monocytes from infants with NEC and/or lower birthweight. Our results on NEC pathomechanisms thus implicate type 3 cytokines, TLRs and IL-37 as potential targets for novel NEC therapies.

Cholinergic innervation and ganglion cell distribution in Hirschsprung's disease.

BACKGROUND: The diagnostic gold standard of Hirschsprung's disease (HD) is based on the histopathological assessment of colorectal biopsies. Although data on cholinergic innervation and ganglion cell (GC) distribution exist, only few studies have examined these two key features together. We assessed the pattern of cholinergic innervation and the amount of GCs in colorectal specimens of 14 HD patients. METHODS: We established a semi-quantitative score for cholinergic innervation using acetylcholinesterase (AChE) enzyme histochemistry and quantitatively analyzed the number of GCs via NADH tetrazolium reductase (NADH) enzyme histochemistry. We examined both the entire length of the resected specimens as well as defined areas of the transition zone of both pathological and healthy appearing segment. RESULTS: High AChE score values were associated with absence of GCs, and AChE scores were inversely correlated with the number of GCs. Nevertheless, we observed several cases in which one of the two features revealed a normal distribution pattern, whereas the other still displayed pathological features. CONCLUSIONS: Our data support the need for transmural colon biopsies, to enable the best evaluation of both cholinergic innervation and GCs for a reliable assessment of HD.

Comparison of outcomes between complete and incomplete congenital duodenal obstruction.

BACKGROUND: Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes. AIM: To quantify and compare the association between CCDO and ICDO with outcome parameters. METHODS: We retrospectively reviewed all patients who underwent operative repair of CCDO or ICDO in our tertiary care institution between January 2004 and January 2017. The demographics, clinical presentation, preoperative diagnostics and postoperative outcomes of 50 patients were compared between CCDO (n = 27; atresia type 1-3, annular pancreas) and ICDO (n = 23; annular pancreas, web, Ladd´s bands). RESULTS: In total, 50 patients who underwent CDO repair were enrolled and followed for a median of 5.2 and 3.9 years (CCDO and ICDO, resp.). CCDO was associated with a significantly higher prenatal ultrasonographic detection rate (88% versus 4%; CCDO vs ICDO, P < 0.01), lower gestational age at birth, lower age and weight at operation, higher rate of associated congenital heart disease (CHD), more extensive preoperative radiologic diagnostics, higher morbidity according to Clavien-Dindo classification and comprehensive complication index (all P ≤ 0.01). The subgroup analysis of patients without CHD and prematurity showed a longer time from operation to the initiation of enteral feeds in the CCDO group (P < 0.01). CONCLUSION: CCDO and ICDO differ with regard to prenatal detection rate, gestational age, age and weight at operation, rate of associated CHD, preoperative diagnostics and morbidity. The degree of CDO in mature patients without CHD influences the postoperative initiation of enteral feeding.

Symptomatic Meckel's Diverticulum in Pediatric Patients-Case Reports and Systematic Review of the Literature.

Introduction: Our aim was to highlight the characteristics of pediatric Meckel's diverticulum with a special focus on its complications. Methods: We report a group of seven patients with Meckel's diverticulum and its resection from the Department of Pediatric Surgery between 2012 and 2017. We reviewed all patient records, clinical presentation, and intraoperative findings. The diagnosis was confirmed by surgery and pathology. For a systematic literature review, we used PubMed, Medline and Google Scholar search engines to locate articles containing terms such as Meckel's diverticulum, children, pediatric, complications and symptomatic. We included article reporting on case series in English and German on pediatric patients only. Results: All included patients (n = 7) were symptomatic. Some patients showed isolated symptoms, and others presented with a combination of symptoms that consisted of abdominal pain, bloody stool or vomiting. The median age of our seven cases was 3.5 years, including 4 male and 3 female patients. Intestinal obstruction was the most common complication; it was seen in 5 out of 7 patients (intussusception in 4 cases, volvulus in 1 case). Ectopic gastric tissue was identified in 3 cases, and inclusion of pancreatic tissue was observed in 1 case. The literature review identified 8 articles for a total of 641 patients aged between 1 day and 17 years and a male:female ratio of 2.6:1. From this group, 528 patients showed clinical symptoms related to Meckel's diverticulum. The most common symptom was abdominal pain and bloody stool. The most common surgical finding in symptomatic patients was intestinal obstruction (41%), followed by intestinal hemorrhage (34%). Complications such as perforation (10%) and diverticulitis (13%) were less frequently reported. Heterotopic tissue was confirmed on histopathology in 53% of all patients enclosing gastric, pancreatic, and both gastric and pancreatic mucosae. In one case, large intestine tissue could be found. Overall, one death was reported. Conclusion: The presented case series and literature review found similar clinical presentations and complications of Meckel's diverticulum in children. Intestinal obstruction and bleeding are more frequent than inflammation in pediatric Meckel's diverticulum. Bowel obstruction is the leading cause for complicated Meckel's diverticulum in patients younger than 12 years.

Prospective international multicenter observational study of Novosyn® Quick for skin closures in adults and children (SKINNOQ).

BACKGROUND: This clinical trial evaluated the performance of a newly released fast-absorbable braided synthetic suture (Novosyn® Quick) in adults and paediatric patients undergoing elective skin closures. METHODS: This was a prospective international multicentre observational study. Two centres enrolled 100 patients, of which 50 were adults (visceral surgery, France) and 50 were paediatric patients (paediatric surgery, Germany). Surgeons used a 5-point Likert scale to assess handling characteristics of the suture. Patients and professionals used the Patient-Observer-Scar-Assessment-Scale (POSAS) to rate scar quality. Adverse events were monitored until 3 months postoperatively. RESULTS: Handling characteristics of Novosyn® Quick were in median rated very good by both general surgeons and paediatric surgeons. Patient components of POSAS (six questions; ten-level Likert scale; best possible score six) scored in median (range) 8.5 (6-28) in the paediatric group versus 12 (6-38) in the adult group, P = 0.01. Patients` overall opinions of POSAS were similar in both groups [mean (SD), 1.86 (0.99) in the paediatric group versus 2.08 (1.35) in the adult group, P = 0.3536]. Observer component of POSAS (six parameters; ten-level numeric rating scale, best possible score six) scored comparably in both groups [median (range), 8 (6-29) in the paediatric group versus 10 (6-28) in the adult group, P = 0.1403]. Observers overall opinion of POSAS favoured the paediatric patients group [mean (SD), 1.48 (0.61) versus 1.92 (1.06) in the adult group, P = 0.0131]. Adverse events in relation to wound healing were not observed in both patient groups. CONCLUSIONS: Our findings indicate, that Novosyn® Quick is safe and reliable for skin closure in adults and paediatric patients and can be regarded as a viable alternative to Vicryl® Rapide. TRIAL REGISTRATION: This trial was registered prospectively with ClinicalTrials.gov under the registration number NCT02680886 on 5 February 2016. The trial was approved by the Institutional Review Boards of both study locations (France: CCTIRS N° 16-103 and CNIL:MMS/CWR/AR163920; Germany: 398/15).

Laparoscopic versus open surgery for the repair of congenital duodenal obstructions in infants and children.

BACKGROUND: Laparoscopic repair of congenital duodenal obstruction (LCDO) was described more than 15 years ago. However, studies comparing outcomes of LCDO with open repair (OCDO) are rare. Standardized assessments of complications using the Clavien-Dindo classification (CDC) and the comprehensive complication index (CCI) are not available. METHODS: All patients undergoing OCDO or LCDO between 2004 and 2017 were identified from the institutional database by retrospective analysis. Postoperative outcomes were assessed, including all complications using the CDC and the CCI. RESULTS: Forty-seven consecutive patients were identified; 27 patients underwent LCDO and 20 patients had OCDO. Both groups did not differ regarding demographics, associated congenital anomalies, intraoperative pathologic findings, and operative procedures. LCDO was associated with a longer operative time [mean (SD), 202 (89) vs. 112 (41) min, P < 0.0001], shorter time to initiation of feeds [median (range), 1 (0-4) vs. 3 (1-12) days, P = 0.0027], and shorter time to full feeds [mean (SD), 8.2 (4.1) vs. 12.2 (6.4) days, P = 0.0243] compared to OCDO. Shorter length of postoperative hospital stay in LCDO group was achieved for patients without cardiac anomalies [mean (SD), 9.4 (3.1) days in LCDO group vs. 17.2 (9.4) days in OCDO, P = 0.0396] and patients without other anomalies [median (range), 12 (3-38) days in LCDO group vs. 21 (7-31) days in OCDO, P = 0.0460]. LCDO was associated with a lower CCI [median (range) 0 (0-39.7) vs. 4.3 (0-100), P = 0.0270]. CONCLUSIONS: Despite a longer operative time for LCDO, a number of advantages of LCDO over OCDO were recognized comparing both approaches in the repair of congenital duodenal obstruction. Such advantages include a lower morbidity, reduced time to initiation and completion of full enteral feeds, and shorter length of postoperative hospitalization for patients without concomitant cardiac anomalies and for patients without other anomalies when operated laparoscopic. In view of the present results, LCDO, performed in selected patients, appears to represent a viable alternative to OCDO.

Complications of newborn enterostomies.

AIM: To evaluate the occurrence and severity of enterostomy complications in newborns suffering from different intestinal disorders. METHODS: A 10-year retrospective cohort study (2008-2017) investigated newborns that underwent enterostomy formation and reversal for different intestinal disorders. Only infants less than 28 d old at the time of enterostomy creation were included in the study (corrected age was applied in the cases of preterm neonates). The patients were divided into two groups according to their underlying diseases. Group 1 included infants suffering from necrotizing enterocolitis (NEC), whereas Group 2 included newborns diagnosed with intestinal disorders other than NEC, such as meconium obstruction, anorectal malformation, focal intestinal perforation, ileus, intestinal atresia and volvulus. The primary outcome measure was enterostomy-related morbidity. The data were analyzed statistically using Pearson's χ2 test or Fisher's exact test for categorical variables and the Wilcoxon-Mann-Whitney U-Test for continuous variables. RESULTS: In total, 76 infants met the inclusion criteria and were evaluated for enterostomy-related complications. Neither group showed significant differences regarding gender, gestational age, weight at birth or weight at enterostomy formation. Infants suffering from NEC (Group 1) were significantly older at enterostomy formation than the neonates of Group 2 [median (range), 11 (2-75) d vs 4 (1-101) d, P = 0.004)]. Significantly more ileostomies were created in Group 1 [47 (92.2%) vs 16 (64.0%), P = 0.007], whereas colostomies were performed significantly more often in Group 2 [2 (3.9%) vs 8 (32.0%), P = 0.002]. The initiation of enteral nutrition after enterostomy was significantly later in Group 1 infants than in Group 2 infants [median (range), 5 (3-13) vs 3 (1-9), P < 0.001]. The overall rate of one or more complications in patients of both groups after enterostomy formation was 80.3%, with rates of 86.3% in Group 1 and 68.0% in Group 2 (P = 0.073). Most patients suffered from two complications (23.7%). Four or more complications occurred in 21.6% of the infants in Group 1 and in 12.0% of the infants in Group 2 (P = 0.365). Following enterostomy closure, at least one complication was observed in 26.0% of the patients (30.6% in Group 1 and 16.7% in Group 2, P = 0.321). The occurrence of complications was not significantly different between neonates with NEC and infants with other intestinal disorders. 48 (65.8%) patients required no treatment or only pharmacological treatment for the complications that occurred [Clavien-Dindo-Classification (CDC) < III], while 25 (34.2%) required surgery to address the complications (CDC ≥ III). Early reversal of the enterostomy was performed significantly more often (P = 0.003) and the time to full enteral nutrition after closure was significantly longer [median (range), 7 (3-87) d vs 12 (5-93) d, P = 0.006] in infants with a CDC grading ≥ III than in infants with a CDC grading < III. CONCLUSION: Complications occur in almost all infants with enterostomies. The majority of these complications are minor and do not require surgical treatment. There is a clear trend that neonates with NEC have a higher risk for developing complications than those without NEC.

Radical Surgery Improves Survival in Patients with Stage 4 Neuroblastoma.

BACKGROUND: Neuroblastoma (NBL) is the most common extracranial solid tumor in children. Despite a good overall prognosis in NBL patients, the outcome of children with stage 4 disease, even with multimodal intensive therapy, remains poor. The role of extended surgical resection of the primary tumor is in numerous studies controversial. The aim of this study was to retrospectively analyze the impact of radical surgical resection on the overall- and event-free survival of stage 4 NBL patients. METHODS: We retrospectively analyzed patient charts of 40 patients with stage 4 NBL treated in our institution between January 1990 and May 2012. All clinical and pathological findings of stage 4 NBL patients were included. Extent of surgery was assessed from the operation records and was classified as non-radical (tumor biopsy, partial 50-90% resection) or radical (near-complete >90% resection, complete resection). Overall- (OS) and event-free (EFS) survival was assessed using the Kaplan-Meier analysis and log-rank test. A multivariate Cox regression analysis was used to demonstrate independency. RESULTS: In total, 29/40 patients were operated radically (>90% resection), whereas 11 patients received subtotal resection or biopsy only. OS and EFS were significantly increased in patients with radical operation compared with non-radical resection (p = 0.0003 for OS, p = 0.004 for EFS; log-rank test). A multivariate Cox regression analysis revealed radical operation as a significant and independent parameter for OS and EFS. CONCLUSIONS: Our data indicate that radical (over 90% resection) surgery improves OS and EFS in stage 4 NBL patients.

Tunneled central venous catheters in children with malignant and chronic diseases: A comparison of open vs. percutaneous implantation.

PURPOSE: Tunneled central venous catheters (tCVCs) are routinely used for long-term venous access in children with cancer and chronic diseases. They may be inserted by surgical venous cut-down or percutaneously. The aim of this study was to compare the operative times and intraoperative complications of both techniques. METHODS: This study compared group A (surgical venous cut-down, years 2002-2006) with group B (percutaneous, years 2008-2012). Patient characteristics, operative times, and intraoperative complications were obtained from surgical reports. (IRB review and approval, number 6/15). Both Hickman/Broviac and Portacath catheters were included. RESULTS: 343 patients in group A and 321 patients in group B were studied. Ages at implantation and underlying diagnoses were similar. Operative time was significantly shorter in group B. Only 60% of primarily dissected veins were suitable for surgical implantation, whereas successful vessel puncture was possible in 96% (87% on the first attempt, 9% on the second). Bleeding occurred in 2% of patients in group A, and pneumothorax occurred in 1.8% of patients in group B. Early catheter dislodgement was similar in both groups. CONCLUSION: Percutaneous tCVC implantation is safe, less invasive, and faster than surgical implantation. Both techniques are feasible, and complication rates are low. LEVEL OF EVIDENCE: Level III.

Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.

BACKGROUND/PURPOSE: Gastrointestinal symptoms are very common in patients with multiple endocrine neoplasia type 2B (MEN2B) syndrome. Herein, we present a case of intestinal ganglioneuromatosis (IGN) in MEN2B syndrome and a systematic literature review with a special focus on gastrointestinal symptoms prior to the diagnosis of MEN2B. METHODS: Literature search was performed (years 1966-2015) using the "Pubmed" and "Scopus" databases. Search terms used were gastrointestinal, intestinal and MEN2B. RESULTS: Literature search revealed 188 publications on MEN2B patients with gastrointestinal symptoms, providing a total of 55 patients including our own case. The far most common gastrointestinal symptom was constipation (72.7%). The onset of gastrointestinal symptoms occurred in 29 out of 55 cases (52.3%) below the age of 1year. However, MEN2B diagnosis was established at a median age of 13.0years (range 0-46years). The histological finding of IGN led to the diagnosis of MEN2B In 15 of 55 patients (27.3%) at a median age of 3years (range 0-31years). CONCLUSION: Paying close attention to gastrointestinal problems in early childhood and taking a rectal biopsy that precisely screens for IGN offers the chance of diagnosing MEN2B syndrome early in infancy.

Hirschsprung Disease: Critical Evaluation of the Global Research Architecture Employing Scientometrics and Density-Equalizing Mapping.

Introduction Hirschsprung disease (HD) is a congenital bowel innervation disorder that involves several clinical specialties. There is an increasing interest on the topic reflected by the number of annually published items. It is therefore difficult for a single scientist to survey all published items and to gauge their scientific importance or value. Thus, tremendous efforts were made to establish sustainable parameters to evaluate scientific work within the past decades. It was the birth of scientometrics. Materials and Methods To quantify the global research activity in this field, a scientometric analysis was conducted. We analyzed the research output of countries, individual institutions, authors, and their collaborative networks by using the Web of Science database. Density-equalizing maps and network diagrams were employed as state of the art visualization techniques. Results The United States is the leading country in terms of published items (n = 685), institutions (n = 347), and cooperation (n = 112). However, although there is dominance in quantity, the most intensive international networks between authors and institutions are not linked to the United States. By contrast, most of the European countries combine the highest impact of publications. Further analysis reveal the influence of international cooperation and associated phenomena on the research field HD. Conclusion We conclude that the field of HD is constantly progressing. The importance of international cooperation in the scientific community is continuously growing.

Systematic review shows that pathological lead points are important and frequent in intussusception and are not limited to infants.

Intussusception is the most clinically relevant cause of bowel obstruction in infancy and can be idiopathic or occur as a result of pathological lead points. The incidence of these pathological lead points varies from 0.3 to 20%, and they can be mucosal, intramural or extrinsic structures. A systematic literature review was performed from 1998 to 2016 to evaluate the incidence and types of pathological lead points in paediatric intussusception, and this identified 31 epidemiological and retrospective case cohort studies, reviews and case reports. CONCLUSION: Pathological lead points were frequent in intussusceptions and not limited to infants.

Ultrasound-guided reduction of intussusception: a safe and effective method performed by pediatric surgeons.

OBJECTIVES: Ultrasound has developed as the method of choice for diagnosing intussusception. Ultrasound-guided enema reduction is the standard method for treating intussusception. This retrospective study evaluates the efficacy and safety of ultrasound in diagnosis and treatment of intussusception performed solely by pediatric surgeons. METHODS: Charts were studied of all patients who were treatedfor intussusception in our unit from 2013 to 2015. Primary outcome measure was the completeness of reduction, and secondary outcome measure was the rate of complications and elapsed time until surgical treatment. RESULTS: We included 38 patients in this retrospective study. The mean age was 16.7 months (±15), and the female to male ratio was 1:2. Diagnosis was established by abdominal ultrasound. Thirty-five of thirty-eight patients underwent ultrasound-guided enema reduction at our institution. Three of thirty-eight patients were scheduled for immediate surgery due to signs of peritonitis or prolonged bowel obstruction. The overall rate of successful ultrasound enema reduction was 28/35 (80 %) patients. Seven of thirty-five patients underwent surgery after an unsuccessful enema reduction; 6/7 patients had a prolonged history of symptoms, and 6/7 patients had a specific pathological lead point. The length of hospitalization was less than 2 days for patients after enema reduction. Recurrence was observed in three cases (8.5 %). We did not observe any complications during enema reduction. CONCLUSIONS: Ultrasound-guided enema reduction for intussusception is safe and effective when performed by pediatric surgeons.

Pediatric intestinal motility disorders.

Pediatric intestinal motility disorders affect many children and thus not only impose a significant impact on pediatric health care in general but also on the quality of life of the affected patient. Furthermore, some of these conditions might also have implications for adulthood. Pediatric intestinal motility disorders frequently present as chronic constipation in toddler age children. Most of these conditions are functional, meaning that constipation does not have an organic etiology, but in 5% of the cases, an underlying, clearly organic disorder can be identified. Patients with organic causes for intestinal motility disorders usually present in early infancy or even right after birth. The most striking clinical feature of children with severe intestinal motility disorders is the delayed passage of meconium in the newborn period. This sign is highly indicative of the presence of Hirschsprung disease (HD), which is the most frequent congenital disorder of intestinal motility. HD is a rare but important congenital disease and the most significant entity of pediatric intestinal motility disorders. The etiology and pathogenesis of HD have been extensively studied over the last several decades. A defect in neural crest derived cell migration has been proven as an underlying cause of HD, leading to an aganglionic distal end of the gut. Numerous basic science and clinical research related studies have been conducted to better diagnose and treat HD. Resection of the aganglionic bowel remains the gold standard for treatment of HD. Most recent studies show, at least experimentally, the possibility of a stem cell based therapy for HD. This editorial also includes rare causes of pediatric intestinal motility disorders such as hypoganglionosis, dysganglionosis, chronic intestinal pseudo-obstruction and ganglioneuromatosis in multiple endocrine metaplasia. Underlying organic pathologies are rare in pediatric intestinal motility disorders but must be recognized as early as possible.