The Diagnostics and Management of Bronchopulmonary Sequestration: An International Survey among Specialized Caregivers.

BACKGROUND: Our objective was to explore the treatment preferences for bronchopulmonary sequestration (BPS) among an international group of specialized caregivers. METHODS: Sixty-three participants from 17 countries completed an online survey concerning the diagnostics, treatment, and follow-up. Recruitment took place among members of the Collaborative Neonatal Network for the first European Congenital Pulmonary Airway Malformation Trial Consortium and through the Association for European Pediatric and Congenital Cardiology working group database. RESULTS: Most of the 63 participants were pediatric surgeons (52%), followed by pediatric pulmonologists (22%), and pediatric cardiologists (19%). The majority (65%) treated more than five cases per year and 52% standardly discussed treatment in a multidisciplinary team. Half of the participants (52%) based the management on the presence of symptoms, versus 32% on the intralobar or extralobar lesion localization. Centers with both surgical and interventional cardiac/radiological facilities (85%) preferred resection to embolization in symptomatic cases (62 vs. 15%). In asymptomatic cases too, resection was preferred over embolization (38 vs. 9%); 32% preferred noninterventional treatment, while 11% varied in preference. These treatment preferences were significantly different between surgeons and nonsurgeons (p < 0.05). Little agreement was observed in the preferred timing of intervention as also for the duration of follow-up. CONCLUSIONS: This survey demonstrates a variation in management strategies of BPS, reflecting different specialist expertise. Most centers treat only a handful of cases per year and follow-up is not standardized. Therefore, management discussion within a multidisciplinary team is recommended. Recording patient data in an international registry for the comparison of management strategies and outcomes could support the development of future guidelines. LEVEL OF EVIDENCE: Level IV.

Ultrasound markers for prediction of complex gastroschisis and adverse outcome: longitudinal prospective nationwide cohort study.

OBJECTIVES: To identify antenatal ultrasound markers that can differentiate between simple and complex gastroschisis and assess their predictive value. METHODS: This was a prospective nationwide study of pregnancies with isolated fetal gastroschisis that underwent serial longitudinal ultrasound examination at regular specified intervals between 20 and 37 weeks' gestation. The primary outcome was simple or complex (i.e. involving bowel atresia, volvulus, perforation or necrosis) gastroschisis at birth. Fetal biometry (abdominal circumference and estimated fetal weight), the occurrence of polyhydramnios, intra- and extra-abdominal bowel diameters and the pulsatility index (PI) of the superior mesenteric artery (SMA) were assessed. Linear mixed modeling was used to compare the individual trajectories of cases with simple and those with complex gastroschisis, and logistic regression analysis was used to estimate the strength of association between the ultrasound parameters and outcome. RESULTS: Of 104 pregnancies with isolated fetal gastroschisis included, four ended in intrauterine death. Eighty-one (81%) liveborn infants with simple and 19 (19%) with complex gastroschisis were included in the analysis. We found no relationship between fetal biometric variables and complex gastroschisis. The SMA-PI was significantly lower in fetuses with gastroschisis than in healthy controls, but did not differentiate between simple and complex gastroschisis. Both intra- and extra-abdominal bowel diameters were larger in cases with complex, compared to those with simple, gastroschisis (P < 0.001 and P < 0.005, respectively). The presence of intra-abdominal bowel diameter ≥ 97.7th percentile on at least three occasions, not necessarily on successive examinations, was associated with an increased risk of the fetus having complex gastroschisis (relative risk, 1.56 (95% CI, 1.02-2.10); P = 0.006; positive predictive value, 50.0%; negative predictive value, 81.4%). CONCLUSIONS: This large prospective longitudinal study found that intra-abdominal bowel dilatation when present repeatedly during fetal development can differentiate between simple and complex gastroschisis; however, the positive predictive value is low, and therefore the clinical usefulness of this marker is limited. © 2019 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Promoting intestinal adaptation by nutrition and medication.

The ultimate goal in the treatment of short bowel syndrome is to wean patients off parenteral nutrition, by promoting intestinal adaptation. Intestinal adaptation is the natural compensatory process that occurs after small bowel resection. Stimulating the remaining bowel with enteral nutrition can enhance this process. Additionally, medication can be used to either reduce factors that complicate the adaptation process or to stimulate intestinal adaptation, such as antisecretory drugs and several growth factors. The aim of this review was to provide an overview of the best nutritional strategies and medication that best promote intestinal adaptation.

Cloacal malformation patients report similar quality of life as female patients with less complex anorectal malformations.

PURPOSE: Cloacal malformations are the most complex type of anorectal malformation in females. This study aimed to report quality of life (QoL) of patients with a cloacal malformation for the first time in literature. MATERIALS AND METHODS: Female patients with an anorectal malformation participating in a follow-up program for congenital malformation survivors aged 5 or older were eligible for this study. QoL was assessed with the PedsQL™ 4.0 inventory. Scores of patients with a cloacal malformation (CM) were compared with those of female patients with rectoperineal or rectovestibular fistulas (RP/RV) and with reference data. RESULTS: A total of 59 patients (67% response rate; 13 patients with cloacal malformation) were included, QoL was assessed by patient self-report at median age of 12years (8-13), and by parent proxy-report at median age of 8years (5-12). There were no differences between groups regarding the presence of associated anomalies, with also no differences regarding anomalies in the urinary tract (CM vs. RP/RV=31% vs. 15%, p=0.237). Scores of the cloacal malformations group were similar to those of the comparison group, except the proxy-reported scores on school functioning (60.0 vs. 80.0, p=0.003). Proxy-reported scores of cloacal malformation patients were significantly lower than reference values on total QoL-score, psychosocial health, and emotional and school performance. Patients (irrespective of type of ARM) who suffered from fecal soiling reported significantly lower scores with regard to psychosocial health (71.7 vs. 81.7, p=0.034) and its subscale school performance (65.0 vs. 80.0, p<0.001). QoL-scores reported by cloacal malformation patients did not differ significantly from the reference values of the healthy population. Parents of cloacal malformation patients reported significantly lower total QoL, emotional and school performances, as well as a lower general psychosocial health for their children relative to reference data of healthy children. CONCLUSION: Patients with cloacal malformations and females with less complex anorectal malformations report similar QoL. Parents of cloacal malformation patients report more problems on several psychosocial domains relative to the healthy reference group. To monitor these matters, long-term follow-up protocols should contain multidisciplinary treatment including periodical assessment of psychosocial well-being.

Emergency repair of inguinal hernia in the premature infant is associated with high direct medical costs.

PURPOSE: Inguinal hernia repair is frequently performed in premature infants. Evidence on optimal management and timing of repair, as well as related medical costs is still lacking. The objective of this study was to determine the direct medical costs of inguinal hernia, distinguishing between premature infants who had to undergo an emergency procedure and those who underwent elective inguinal hernia repair. METHODS: This cohort study based on medical records concerned premature infants with inguinal hernia who underwent surgical repair within 3 months after birth in a tertiary academic children's hospital between January 2010 and December 2013. Two groups were distinguished: patients with incarcerated inguinal hernia requiring emergency repair and patients who underwent elective repair. Real medical costs were calculated by multiplying the volumes of healthcare use with corresponding unit prices. Nonparametric bootstrap techniques were used to derive a 95 % confidence interval (CI) for the difference in mean costs. RESULTS: A total of 132 premature infants were included in the analysis. Emergency surgery was performed in 29 %. Costs of hospitalization comprised 65 % of all costs. The total direct medical costs amounted to €7418 per premature infant in the emergency repair group versus €4693 in the elective repair group. Multivariate analysis showed a difference in costs of €1183 (95 % CI -1196; 3044) in favor of elective repair after correction for potential risk factors. CONCLUSION: Emergency repair of inguinal hernia in premature infants is more expensive than elective repair, even after correction for multiple confounders. This deserves to be taken into account in the debate on timing of inguinal hernia repair in premature infants.

Postoperative complications after reconstructive surgery for cloacal malformations: a systematic review.

The repair of cloacal malformations is most often performed using a posterior sagittal anorecto-vagino-urethroplasty (PSARVUP) or total urogenital mobilization (TUM) with or without laparotomy. The aim of this study was to systematically review the frequency and type of postoperative complication seen after cloacal repair as reported in the literature. A systematic literature search was conducted according to preferred reporting items for systematic reviews and meta-analyses guidelines (PRISMA). Eight records were eligible for this study which were qualitatively analyzed according to the Rangel score. Overall complication rates reported in included studies ranged from 0 to 57 %. After meta-analysis of data, postoperative complications were seen in 99 of 327 patients (30 %). The most common reported complications were recurrent or persistent fistula (n = 29, 10 %) and rectal prolapse (n = 27, 10 %). In the PSARVUP group, the complication rate was 40 % and in the TUM group 30 % (p = 0.205). This systematic review shows that postoperative complications after cloacal repair are seen in 30 % of the patients. The complication rates after PSARVUP and TUM were not significantly different. Standardization in reporting of surgical complications would inform further development of surgical approaches. Other techniques aiming to lower postoperative complication rates may also deserve consideration.

Esophageal atresia: long-term morbidities in adolescence and adulthood.

Survival rates in esophageal atresia (EA) patients have reached 90%. In long-term follow-up studies the focus has shifted from purely surgical or gastrointestinal evaluation to a multidisciplinary approach. We evaluated the long-term morbidity in adolescent and adult EA patients and discussed mainly nonsurgical issues. Dysphagia is common and reported in up to 85% of patients. In young adults gastroesophageal reflux disease occurs frequently with development of Barrett esophagus in 6% reported in different series. It is difficult to estimate respiratory morbidity from the literature because many different definitions, questionnaires, and study designs have been used. However, many patients seem to suffer from respiratory problems even into adulthood. In conclusion, morbidity is not only restricted to surgical problems but many different domains are involved. These are all related and together determine to a large extent the quality of life of EA patients and also of their families. We assume that a multidisciplinary care approach seems best to address their special needs.

VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.

Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal population variance. However, larger CNVs, which often arise de novo, are frequently associated with human disease. A genetic contribution has long been suspected in VACTERL (Vertebral, Anal, Cardiac, TracheoEsophageal fistula, Renal and Limb anomalies) association. The anomalies observed in this association overlap with several monogenetic conditions associated with mutations in specific genes, e.g. Townes Brocks (SALL1), Feingold syndrome (MYCN) or Fanconi anemia. So far VACTERL association has typically been considered a diagnosis of exclusion. Identifying recurrent or de novo genomic variations in individuals with VACTERL association could make it easier to distinguish VACTERL association from other syndromes and could provide insight into disease mechanisms. Sporadically, de novo CNVs associated with VACTERL are described in literature. In addition to this literature review of genomic variation in published VACTERL association patients, we describe CNVs present in 68 VACTERL association patients collected in our institution. De novo variations (>30 kb) are absent in our VACTERL association cohort. However, we identified recurrent rare CNVs which, although inherited, could point to mechanisms or biological processes contributing to this constellation of developmental defects.

Minimal access surgery for repair of congenital diaphragmatic hernia: is it advantageous?--An open review.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a congenital life-threatening condition requiring surgical repair in the neonatal period. Minimal access surgery (MAS) is gaining ground on the classical open approach by laparotomy or thoracotomy as it minimizes damage to the abdominal or thoracic wall. Using an open review of the literature, we aimed to determine whether MAS is safe and effective in treating CDH. Furthermore, we provide selection criteria for the optimal surgical approach, laid down in a decision algorithm. METHODS: An online search of MEDLINE was performed (May 2012), followed by a citations search. All study types except case reports describing open and/or MAS repair of Bochdalek CDH were eligible. Primary outcome data, for example, surgical complications and mortality, were recorded, as well as secondary outcome measures, for example, operative time, duration of postoperative ventilation, tolerance of enteral nutrition, and total length of stay (LOS) in hospital. Analysis was performed in accordance with the standards of the Cochrane Handbook for Systematic Reviews of Interventions. RESULTS: We identified 15 relevant studies, 5 of them describing MAS only and 10 comparing MAS to open repair of CDH. Numbers of included patients and selection criteria for MAS varied widely. Most studies have methodological limitations, such as the use of retrospective data or historical control groups. ECMO treatment and patch use were more frequent in the open repair group (both p < 0.0001). Recurrence risk seemed to be increased in the MAS group. The need for conversion in MAS series ranged widely, from 3.4 to 75.0%. The risk of general surgical complications did not vary between groups. Mortality seemed to be less in the MAS group. Operative time seemed to be longer in the MAS group. Duration of postoperative ventilation and total LOS appeared to be reduced in this group and patients returned quicker to enteral nutrition. CONCLUSIONS: We demonstrate that MAS for diaphragmatic hernia appears to be safe in terms of complications and mortality. Besides, it is associated with faster postoperative recovery. Growing experience with this technique is expected to lower the recurrence risk and to shorten the operative time. These findings should be interpreted cautiously because of methodological limitations of the studies included. Selection criteria used in various studies are associated with an important risk of selection bias. Nonetheless, these criteria can be used to identify patients who will benefit most from MAS.

Congenital diaphragmatic hernia: still a moving target.

The primary therapeutic target for congenital diaphragmatic hernia (CDH) patients has shifted from emergency surgical repair towards a non-operative emergency of the newborn treated by interdisciplinary teams. The increased understanding of the epidemiological and pathophysiological aspects of CDH have led to an improved knowledge and application of prenatal diagnosis, postnatal ventilation strategies, treatment of associated pulmonary hypertension and the role of extracorporeal membrane oxygenation therapy. In the surgical field, the perspectives have changed with delayed CDH repair, the introduction of minimally invasive surgery and use of prosthetic material for closure of large defects. With decreased mortality, long term multi-organ morbidity has increased in some survivors. In the near future, randomized controlled trials on different aspects of therapy will determine evidence-based optimal care.

Delayed intrauterine repair of an experimental spina bifida with a collagen biomatrix.

BACKGROUND/PURPOSE: The aim of the study was to evaluate whether a collagen biomatrix is useful for delayed intrauterine coverage of a surgically created spina bifida in a fetal lamb. METHODS: In 20 fetal lambs, surgery was performed at 72 or 79 days' gestation. In 15 lambs a spina bifida was created surgically. In 8 lambs it was covered with a collagen biomatrix 2 weeks later and in 7 lambs it was left uncovered. Five lambs served as sham operated controls. Neurological examination was performed at 1 week of age and afterwards the lambs were sacrificed for further histological evaluation. RESULTS: None of the 5 surviving lambs with the defect covered showed loss of spinal function and the architecture of the spinal cord was preserved in 4 of the 5 lambs. In the uncovered group, 1 of the 4 surviving lambs had loss of spinal function, 5 lambs were available for histological evaluation and 4 of them showed disturbance of the architecture of the spinal cord. CONCLUSIONS: Collagen biomatrices can be used for intrauterine coverage of an experimental spina bifida and can preserve the architecture of the spinal cord. Neurological outcome is not different between fetuses with their spinal cord covered and fetuses with uncovered cords.

Major sacrococcygeal teratoma in an extreme premature infant: a multidisciplinary approach.

Antenatally diagnosed, large sacrococcygeal teratomas in very premature infants are associated with a very poor outcome. We present an extreme premature infant with cardiac decompensation, diagnosed at 27 weeks and 1 day of gestational age. A positive outcome could be achieved with intensive multidisciplinary planning of the delivery, postnatal stabilization and surgical resection, as demonstrated in this case report.

A neonate with an intact congenital umbilical appendix: an alternative theory on the etiology of the appendico-umbilical fistula.

Neonatal umbilical anomalies usually represent remains of the vitelline duct or the allantois. We describe a case of an umbilical appendix in a neonate. The vermiform appendix was found to be positioned in the umbilical cord. In a brief literature review we found eight other reports concerning umbilical appendices. In this article we describe a possible embryological explanation for the development of an umbilical appendix, and discuss whether or not the appendiceal umbilical fistulae reported are congenital or iatrogenic. The possible association between an umbilical appendix and different forms of malpositioning and rotation of the gut is also discussed. Protrusion of the neonatal appendix into the umbilical cord represents a different entity of congenital anomalies. It is important to realize that, in the case of an unrecognized umbilical appendix, medical procedures (e.g., canulation or clamping of the umbilicus) may produce an iatrogenic appendico-umbilical fistula. Careful inspection and palpation of the umbilical cord prior to these procedures may prevent a fistula being created. Furthermore, because the possible association between umbilical appendices and different kinds of malpositioning of the gut is so far not wholly elucidated, we recommend further (radiological) investigation in each case of an umbilical appendix. Correct positioning of the bowel needs to be confirmed in order to rule out possible future complications.

The role of imaging studies in pancreatic injury due to blunt abdominal trauma in children.

BACKGROUND: The role imaging studies play in the choice of treatment in traumatic pancreas damage remains unclear. This study was performed to gain insight into the role of radiological studies in children 16 years of age or younger admitted to our hospital with pancreatic damage due to a blunt abdominal trauma. METHOD: Retrospectively, the radiological as well as patient clinical records were reviewed of all children admitted to our hospital between 1975 and 2003 with a pancreatic lesion due to blunt abdominal trauma. RESULTS: Thirty-four children with ages ranging from 3 to 14 years old were admitted with traumatic pancreas damage. Initially 33 children were treated conservatively for the pancreatic damage and only one had immediate surgery of the pancreas with a Roux-y pancreaticojejunostomy. Five other children had immediate surgery for other reasons. Overall, five children proved to have a pancreas transection on CT scans or during laparotomy. One child had a pancreas hematoma and 28 a pancreas contusion. In total 15 children developed a pseudocyst (44%), nine of which resolved spontaneously while six were treated by intervention. None of the children had residual morbidity, and there were no deaths. Considering the pancreas, the 11 available CT's were re-evaluated by two radiologists independently. Grade 3 pancreas damage (distal transection of the pancreatic duct) was diagnosed in five patients by radiologist A and four patients by radiologist B (80% match); Grade 1 was diagnosed in, respectively six and one patients (15% match). An US was performed on 19 children with 82 follow-up examinations, mostly for follow-up of the pseudocysts. CONCLUSION: Traumatic pancreas damage is a rare and difficult diagnosis. There is no straightforward answer for diagnostic imaging in blunt abdominal trauma in children. The diagnostic relevance of CT is limited. CT in combination with MRCP may be a better option for exclusion of pancreatic duct lesions.

Histological evaluation of acute covering of an experimental neural tube defect with biomatrices in fetal sheep.

OBJECTIVE: The aim of the study was to determine the histological effect on the neural tissue of in utero covering of an experimental neural tube defect in fetal lambs, with the use of two different biomatrices. MATERIALS AND METHODS: In 23 fetal sheep, surgery was performed at 79 days' gestation. In 19 of these, a neural tube defect was created, while 4 fetuses served as sham-operated controls. In 7 of the 19 operated fetuses the defect was left uncovered. In the remaining 12 animals the defect was covered either with a collagen biomatrix (4 animals), skin (3 animals), or small intestinal submucosa biomatrix (5 animals). The lambs were sacrificed at 1 week of age and histological examination was performed. RESULTS: All lambs with an uncovered neural tube defect showed histological damage of the spinal cord. In lambs in which the neural tube defect was covered, one half showed a normal architecture of the spinal cord while minor histological damage was present in the other half. Between the three groups in which the defect was covered, the histological outcome was comparable. CONCLUSIONS: Acute covering of an experimental neural tube defect in fetal lambs prevents severe histological damage to the spinal cord independent of the two biomatrices used in this study.

In utero repair of an experimental neural tube defect in a chronic sheep model using biomatrices.

OBJECTIVE: Persistent exposure of the unprotected spinal cord to amniotic fluid and the uterine wall can lead to progressive damage of neural tissue in case of a myelomeningocele (two-hit hypothesis). The aim of this study was to evaluate whether in utero repair of an experimental neural tube defect in a fetal lamb could protect neural tissue from secondary injury and save neurologic functions after birth. METHODS: In 19 fetal lambs, a neural tube defect was created at 79 days' gestation. In 12 lambs the defect was covered either with a novel, molecular defined collagen-based biocompatible and biodegradable matrix (UMC) or with a small intestinal submucosa (SIS) biomatrix (Cook) or by closing the skin over the defect. RESULTS: All lambs with the defect covered showed no or minor neurologic morbidity in contrast to the lambs with the defect uncovered in which major neurologic morbidity was seen. CONCLUSIONS: These results demonstrate that long-term exposure of the open spinal cord to the intrauterine environment can lead to damage of neural tissue and, consequently loss of neurologic functions and that coverage of the defect can lead to a better neurologic outcome. Furthermore, we could show that a UMC biomatrix and an SIS biomatrix are useful for in utero coverage of a surgically created neural tube defect in our model.

[Two newborns with both small-bowel atresia and cystic fibrosis]. / Twee pasgeborenen met zowel dunnedarmatresie als cystische fibrose.

Two newborn girls presented with congenital small-bowel atresia; in one case a high intestinal obstruction had been demonstrated by prenatal echography, while in the other case there were feeding problems and a failure to produce meconium. In both infants, the postoperative period was complicated by feeding problems, malabsorption and insufficient growth. Cystic fibrosis (CF) was then diagnosed in both patients. After modification of the diet, both showed rapid growth to a normal weight. The prevalence of CF in children with congenital small-bowel atresia is 6-13%, which is considerably higher than in a normal population. There is still no good explanation for this finding, but it is likely that CF contributes to the development of small-bowel atresia. In view of the high prevalence of CF in children with small-bowel atresia, children with congenital small-bowel atresia should be examined for CF.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a dilated, non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract, which is considered lethal. About 90 patients have been reported, predominantly female. We present the case of a female newborn with MMIHS in whom antenatal ultrasound was suggestive for the diagnosis, which was confirmed after delivery. Diagnostic features by antenatal ultrasound are described.

[A child with traumatic hemobilia]. / Een kind met traumatische hemobilie.

A 4-year-old boy was hit by a car travelling at 40 km/h and was admitted 3.5 h later to the department of paediatric surgery. Because he was haemodynamically unstable and needed blood transfusion, the patient underwent an emergency operation. The liver was ruptured in the right lobe. A large haematoma was found in the serosa of the duodenum, along with a Meckel's diverticle, which was left in place. The liver rupture was covered and sealed. One month after the accident the patient was re-admitted, because of abdominal pain and gastrointestinal bleeding. The cause was thought to be the Meckel's diverticle, which was removed later. Two months after the trauma the patient was re-admitted with abdominal pain, again with haematemesis and melaena. The diagnosis of hemobilia was obtained with MRI and angiography, which revealed a ruptured pseudoaneurysm of the ramus dexter of the proper hepatic artery. The patient was successfully treated with embolization. The diagnostic delay was two months, which illustrates the importance of considering the possibility of the diagnosis hemobilia in case of gastrointestinal haemorrhage combined with biliary symptoms.