Hirschsprung disease (HD) is a rare malformation that requires complex corrective surgery. Low caseload, heterogeneous patient cohorts, and difficulties in linking long-term outcomes to the initial corrective surgery limit the available direct evidence for a volume-outcome relationship. Indirect evidence from adult colorectal cancer (CRC) surgery may be transferable, given the partial similarity of the procedures.Using the Institute for Quality and Efficiency in Health Care (IQWiG) V24-07 rapid report's methodology, this study evaluated the transferability of the volume-outcome relationship from adult CRC surgery to corrective surgery for HD in children. Differences between the two populations were identified and rated for their effect on the transferability of the volume-outcome relationship by an expert panel, following predefined IQWiG V24-07 categories.Consensus was reached for 6 out of 12 criteria. For "disease characteristics," "comorbidities," "intervention," "follow-up," and "concomitant treatments," differences were deemed irrelevant to transferability. For "diagnosis," differences were considered to increase procedural complexity in HD, thereby reinforcing the volume-outcome relationship. Tissue sampling and frozen-section pathology were identified as key challenges. Differences of opinion arose for the remaining criteria, particularly concerning whether the transferability of evidence is limited to rectal resections in adults or includes all colorectal resections. No consensus could be reached on the appropriate caseload threshold for corrective surgery for HD in children.Using the IQWiG V24-07 framework, this study provides strong support for the transferability of the volume-outcome relationship from adult colorectal surgery to corrective surgery for HD. Despite population differences, the underlying mechanisms linking surgical complexity and institutional experience are comparable, reinforcing the relevance of volume-based quality control in pediatric surgery.

Introduction:Clinical evidence regarding the impact of intraoperative penile ischemia during pediatric hypospadias repair remains inconclusive. Although experimental studies suggest that ischemia-reperfusion injury may impair wound healing, clinical data on the relationship between ischemia duration and postoperative outcomes in children are limited. This study aimed to determine whether the duration of intraoperative penile ischemia is associated with postoperative complications-specifically urethral fistula formation and meatal stenosis-in patients undergoing primary hypospadias repair. Methods:We conducted a retrospective, single-center cohort study of pediatric patients who underwent primary hypospadias repair with intraoperative penile tourniquet application over a 12-year period. The primary outcome was the occurrence of postoperative complications, specifically meatal stenosis or urethral fistula, requiring revision surgery. Secondary analyses assessed tourniquet duration, patient demographics, and key perioperative variables to identify potential risk factors for adverse outcomes. Results:Ninety-four patients were included. Postoperative complications requiring redo surgery occurred in 17 patients (18%), comprising urethral fistula (n = 12), meatal stenosis (n = 3), or both (n = 2). Median ischemia duration did not differ significantly between patients with and without complications (39 [34-45] vs. 35 [30-42] min; p = 0.15). No significant differences were observed in operative time, biometric variables, hypospadias severity, suture material, stenting duration, or postoperative hospital stay. Mean follow-up was 76 months. A structured literature review revealed that ischemia duration is inconsistently reported across studies, limiting comparability. Conclusions:Intraoperative penile ischemia duration within the mid-range commonly applied in clinical practice was not associated with an increased risk of postoperative fistula or meatal stenosis following primary hypospadias repair. These findings support the safety of standard penile tourniquet use during routine surgical procedures. However, prospective studies with standardized documentation of ischemia duration are needed to establish evidence-based safety thresholds and to further clarify potential ischemia-reperfusion effects.

BACKGROUND:The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. METHODS:We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between 1993 and 2014 in the SIOP93-01/GPOH and SIOP2001/GPOH renal tumor studies. RESULTS:Of the 37 patients, 23 had a single lesion, and 14 had oligofocal disease; 65% had a clinically apparent and/or molecularly diagnosed cancer predisposition syndrome, and 27% bilateral involvement. Preoperative chemotherapy was administered to 62%, primary surgery to 32%, and chemotherapy without surgery to 5%. Nephron-sparing surgery was performed in 71%. In oligofocal cases, preoperative chemotherapy led to significant tumor volume reduction. Prognosis was favorable: 10-year event-free, nephroblastoma-free, and overall survival rates were 77.4%, 80.7%, and 92.0%, respectively. Of 35 patients who underwent definitive surgery, 26 received short postoperative treatment (≤4 weeks) or a watch-and-wait approach (W&W). Three patients (11.5%) developed nephroblastoma, two of whom were successfully salvaged. Ten-year nephroblastoma-free survival was 74.1%, 90.0%, and 100% for short, W&W, and long postoperative treatment (>4 weeks), respectively. All 12 patients undergoing primary definitive surgery remained nephroblastoma-free. CONCLUSION:Short postoperative chemotherapy or W&W is a safe option for patients with single or oligofocal nephroblastomatosis in complete remission, provided they undergo close ultrasound monitoring. The modest relapse risk, manageable with salvage therapy, must be weighed against the toxicity of prolonged treatment, especially in infants. Both primary and delayed surgery are viable strategies.

Anorectal malformations (ARM) are rare congenital anomalies requiring complex surgical correction. Due to low caseload and heterogeneous cohorts, prior studies failed to establish whether higher hospital caseloads improve outcomes. This study applies the IQWiG V24-07 framework to evaluate whether indirect evidence from other surgical procedures can inform a potential volume-outcome relationship in ARM surgery. An interdisciplinary expert panel conducted a formal consensus using three steps: (1) identifying suitable source populations; (2) systematically comparing these with the ARM population using 12 IQWiG criteria; and (3) evaluating transferability through structured discussion and voting. Adult rectal resection was unanimously selected as evidence source population due to robust evidence of a volume-outcome relationship and relevant surgical commonalities, including deep pelvic dissection. Of the 12 transferability criteria, consensus was reached in six. Differences in comorbidities, concomitant treatment, and setting were judged irrelevant for transferability. Differences in sociodemographic and disease-specific characteristics were considered estimable in their impact. Divergent ratings were observed for diagnosis, intervention, endpoints, specialization, and follow-up care. Short-term technical outcomes such as anastomotic leakage were deemed transferable, whereas mortality was considered non-informative in ARM. Functional outcomes required subtype-specific interpretation. This structured analysis supports the existence of a volume-outcome relationship for ARM surgery.

Purpose Fetal lower urinary tract obstruction (LUTO) is a rare congenital disease associated with high morbidity and mortality due to pulmonary hypoplasia and renal insufficiency. Fetal management includes early vesicoamniotic shunting (VAS), a technique that has evolved in recent years to preserve kidney function. Previous publications have focused on intrauterine shunt complications, such as dislocation and preterm premature rupture of membranes (PPROM). In our study we aimed to assess postnatal shunt related complications that became obvious after birth. Materials and Methods We describe our preliminary experience with 25 fetuses who underwent VAS with a Somatex ® shunt as well as postnatal shunt removal at two experienced centers for fetal medicine. The intrauterine course, underlying pathology, postnatal outcome and details on shunt explantation and related complications were assessed. The data were retrospectively analysed in relation to the intrauterine course, underlying pathology, further malformations, and perioperative characteristics with a focus on the complication spectrum and type of intervention. Results Twenty-five fetuses underwent VAS at a median of 17 weeks. Two newborns were excluded because they died within the first 24 hours of life secondary to fulminant lung hypoplasia. In ten (43%) newborns, shunt removal was performed under local anaesthesia. In 13 (57%) neonates, the shunt was explanted surgically, and five (22%) of these operations were defined as complex. Conclusion Intrauterine VAS with a Somatex ® shunt is feasible, and in the majority of cases, shunt explantation can be easily performed after birth. However, the umbrellas may cause intraabdominal tissue damage, peritoneal adhesions or skin defects, and early surgical management of VAS associated complications might be necessary.

The clinical course of neuroblastoma is more heterogeneous than any other malignant disease. Many low-risk patients experience regression after limited or even no chemotherapy. However, more than half of high-risk patients die from disease despite intensive multimodal treatment. Precise disease characterization for each patient at diagnosis is key for risk-adapted treatment. The guidelines presented here incorporate results from national and international clinical trials to produce recommendations for diagnosing and treating neuroblastoma patients in German hospitals outside of clinical trials.

Genetic predisposition is particularly common in children with the kidney cancer, Wilms tumor. In 10

BackgroundHirschsprung’s disease (HD) is a rare and complex malformation. The corrective operation is challenging and schedulable. The complete care situation for the corrective surgery for HD in Germany is uninvestigated.MethodsFor the years 2016-2022, the microdata of the diagnosis-related groups (DRG) -statistics provided by the Research Data Center of the German Federal Statistical Office were accessed. All hospital stays for corrective surgery of HD in patients aged 0-17 were analyzed for patient’s comorbidities, treatment characteristics and hospital structures. The occurrence of severe early postoperative complications during the hospital stay were documented.ResultsThe care structure for HD in Germany is decentralized with 109 hospitals performing 1199 corrective surgeries in 7 years. 75% of the participating hospitals performed three or less cases per year and 55 participating hospitals did not perform corrective surgery for HD each year. Early postoperative complications were common with at least one severe early complication in 18.6% of the cases. With an overall low case load per hospital, a volume outcome relationship cannot be established within Germany. Compared to international high volume centers the quality of outcomes for some of the investigated parameters was reduced. Despite the establishing of centers of expertise by the European reference network ERNICA for the treatment of HD no trend towards centralization occurred in Germany.ConclusionsThe corrective surgery for HD in Germany is decentralized and results in an overall high rate of early complications. The comparison with international studies from high-volume centers indicates potential for improvement for the corrective surgery of HD. Centralization remains essential for the improvement of care for patients with HD.

Developmental defects of the ventral abdominal wall, such as gastroschisis, have been associated with prenatal stress exposure. To investigate this further, dexamethasone (DEX), a synthetic glucocorticoid, was administered to fertilized chicken eggs on day 1 of incubation to simulate stress, and embryonic development was subsequently analyzed through in-situ hybridization, immunohistochemistry, and histological methods. Significant developmental abnormalities were displayed by DEX-treated embryos, including open abdomens, reduced MYOG expression in the abdominal wall, and disrupted muscle fiber formation, as indicated by altered Myosin heavy chain patterns. Additionally, early markers of muscle development, such as Pax3, and the CXCR4-SDF-1 signaling axis, crucial for the migration of myogenic precursors of the dermomyotome, were markedly affected. Significant alterations in the expression of mesenchymal markers, including Vimentin and Fibronectin in the lateral plate mesoderm, were observed, alongside alterations in Pitx2, BMP4 and TFAP2A expression. Importantly, a downregulation of Glucocorticoid Receptors was identified, emphasizing the chronic stress exposure. These results provide critical insights into how DEX interferes with key developmental pathways, particularly those involving chemokines like CXCR4 and SDF-1, and other markers of mesodermal differentiation. An advancement in the understanding of the mechanisms underlying ventral abdominal wall defects in the context of prenatal stress is provided by this research, with potential implications for preventing these congenital anomalies.

Infants frequently present with respiratory symptoms, but diagnosing the underlying pulmonary condition is sometimes challenging.Here, we describe an infant presenting with respiratory distress due to a rare pulmonary condition.Different investigations eventually led M a n u s c r i p t a c c e p t e d f o r p u b l i c a t i o n to the correct diagnosis and the patient successfully treated.Rare respiratory conditions need to be considered to ensure early and appropriate care.A 2-week-old neonate was referred with a postnatal history of tachypnea, poor feeding and elevated plasma inflammation markers.The patient presented with mild episodes of coughing after feeding and diminished breath sounds of the right upper lung.A chest radiograph revealed bilateral consolidations.Whereas bronchoscopy was suggestive of bilateral bronchial atresia, computed tomography supported bronchial atresia of the right upper and middle lobe and a left-sided broncho-esophageal communication.Surprisingly, an upper gastrointestinal series revealed bilateral esophageal insertion of bronchi and the diagnosis of a communicating bronchopulmonary foregut malformation (CBPFM) was made.Two-stage lobectomy of the affected lobes and segments was performed at days 31 and 41 after birth.Histopathological examination exhibited hamartomatous lung tissue with purulent bronchopneumonia.At a follow-up examination after 4 years, the patient was asymptomatic and thriving well with oral feeds.CBPFM are rare malformations.This case highlights the clinical challenge of diagnosing this rare condition.There is a need to raise awareness for such uncommon conditions and improve diagnostic accuracy.For optimal management a multidisciplinary approach is essential.

Purpose The Sanders Scoring System has revolutionized the way we assess the remaining growth potential of the skeleton. However, because it involves radiation exposure, it must be used with caution in children. The purpose of the study was to evaluate whether the Sanders skeletal maturity score (SMS) could be accurately determined using ultrasound (U).Methods We took radiographs (R) of the hand and performed U of the thumb and index finger in 115 patients between six and 19 years of age who were undergoing treatment for scoliosis or limb deformities. Paediatric orthopaedic surgeons, a paediatrician, and a paediatric radiologist were evaluated the blinded images. Those classified images are based on the SMS and the Thumb Ossification Composite Index (TOCI).Results Intrarater reliability was high for SMS and slightly weaker for TOCI, but still significant. Interrater reliability was clear for R and weaker for U in both staging systems. Ultimately, SMS 3 and 7 achieved the highest percentage of concordance (P) of 71.7% and 66.0%, respectively, when U was performed. Combining the clinically relevant groups of SMS 3&4 and SMS 7&8 also significantly increased peak scores (SMS 3 and 4 P = 76.7%; SMS 7 and 8 P = 79.7%). The probabilities of peak scores were significantly weaker when the TOCI score was examined.Conclusion Our study shows that U can be used effectively especially to measure stages 3 and 4 and stages 7 and 8 of SMS. The U method is easy to use and therefore may offer advantages in clinical practice without the need for radiation exposure.

To assess changes in treatment modalities for supracondylar humerus fractures (SCHFs) at a large pediatric university hospital, we analyzed patient data from 2014 to 2022. A total of 233 SCHFs treated surgically at our hospital were included. To evaluate postoperative outcome and quality of life, DASH and EuroQol-5D-Y questionnaires were sent to patients. In addition to a significant fluctuation in fracture severity, we found an increase in training interventions (more surgeries were performed by trainees) and a significant decrease in surgery times after 2016. From 2020, there was a significant shift in the type of surgical method away from closed reduction with elastic stable intramedullary nailing (ESIN) and towards closed reduction and crossed K-wire osteosynthesis (CRK). Surgeries performed in the morning and evening hours increased, while those performed in the afternoon and after midnight decreased. After a mean follow-up of 4 years, there was no difference in elbow function between ESIN and open reduction and K-wires (ORK). Treatment with ESIN was equivalent to ORK in terms of function, at least in the medium-term follow-up. In summary, the combination of shifting treatment from SCHF to daytime hours, increasing trainee participation and using cross K-wire fixation instead of ESIN had no negative impact on surgery times. In our setting, these measures have reduced resource utilization and increased efficiency without compromising patient care.

The pretreatment International Neuroblastoma Risk Group Staging System (INRGSS) discriminates localized tumors L1/L2 depending on the absence/presence of image‐defined risk factors (IDRFs) at diagnosis. Referring to this new staging system, we assessed initial imaging of localized thoracic neuroblastoma (NB) and ganglioneuroma (GN) and the extent of initial tumor resection.

Chirurgische Erkrankungen der Trachea und/oder der Hauptbronchien sind im Kindesalter insgesamt sehr selten. Zu unterscheiden sind die angeborenen Fehlbildungen von den sekundär erworbenen und den Neoplasien. In den meisten Fällen handelt es sich um komplexe Krankheitsbilder, die das Leben der jungen Patienten deutlich einschränken oder gar akut gefährden.

VACTERL association is a rare malformation complex consisting of vertebral defects, anorectal malformation, cardiovascular defects, tracheoesophageal fistulae with esophageal atresia, renal malformation, and limb anomalies. According to current knowledge, VACTERL is based on a multifactorial pathogenesis including genomic alterations. This study aimed to improve the understanding of the genetic mechanisms in the development of VACTERL by investigating the genetic background with a focus on signaling pathways and cilia function. The study was designed as genetic association study. For this, whole-exome sequencing with subsequent functional enrichment analyses was performed for 21 patients with VACTERL or a VACTERL-like phenotype. In addition, whole-exome sequencing was performed for three pairs of parents and Sanger-sequencing was performed for ten pairs of parents. Analysis of the WES-data revealed genetic alteration in the Shh- and Wnt-signaling pathways. Additional performed functional enrichment analysis identified an overrepresentation of the cilia, including 47 affected ciliary genes with clustering in the DNAH gene family and the IFT-complex. The examination of the parents showed that most of the genetic changes were inherited. In summary, this study indicates three genetically determined damage mechanisms for VACTERL with the potential to influence each other, namely Shh- and Wnt-signaling pathway disruption, structural cilia defects and disruption of the ciliary signal transduction.

Introduction In pediatric Crohn's disease ileocecal resection is performed reluctantly as postoperative recurrence is frequent. Anti-tumor necrosis factor (TNF) therapy reduces postoperative recurrence rates but increases the risk for infections.Materials and Methods We retrospectively reviewed pediatric Crohn's disease patients who underwent ileocecal resection in our center. We compared disease activity and z -scores for height, weight, and body mass index of patients, who continuously received perioperative anti-TNF therapy (TNF + ), with those who did not (TNF-).Results Of 29 patients (48% females), 13 and 16 were grouped to TNF+ and TNF-, respectively. Patients' characteristics did not differ between groups, except a longer follow-up time in TNF-. We saw significant postoperative improvement but no normalization in z -scores for weight (1.78 vs. 0.77, p < 0.001), body mass index (1.08 vs. 0.22, p < 0.001), and height (0.88 vs. 0.66, p < 0.001). Disease activity improved significantly more in patients receiving anti-TNF therapy (moderate improvement in 83% vs. 31%, p = 0.02). Endoscopic recurrence was more frequent in patients without anti-TNF therapy (80% vs. 20%; p = 0.023), but endoscopic follow-up was incomplete. There was no increase of infections under perioperative anti-TNF therapy (1 patient each; p = 1.000).Conclusion In patients with localized Crohn's disease an ileocecal resection leads to short-term postoperative improvement of disease activity, body mass index, weight, and growth. For relevant catch-up growth an earlier intervention is necessary. Continuous perioperative anti-TNF therapy had no increased risk of perioperative infections.

Swallowing and feeding disorders are a major concern for children with oesophageal atresia (OA) after primary or staged OA repair. Primary OA repair is associated with higher rates of short-term complications in preterm infants with very low birth weight (VLBW) or extreme low birth weight (ELBW). On the other hand, primary repair may have the benefit of early commencement of oral feedings. We hypothesize that also in the medium-term, swallowing-related quality of life is better after primary oesophageal repair. We conducted a prospective cross-sectional study on swallowing quality in a national cohort of former VLBW and ELBW children with OA, using the structured paediatric swallowing quality of life ( pedSWAL-QOL ) questionnaire. Results were correlated with surgical approach and baseline clinical data. Principal component analysis of pedSWAL-QOL domains was performed. In total, 44 complete data sets of 78 children were available. The mean age of children was 8.5 years (SD = 7.4), and 23 children (52%) had primary OA repair. The overall median pedSWAL-QOL score was 2 (IQR = 0–3), representing a high swallowing-related quality of life, independent of surgical technique ( p = 0.086). Children with a history of intracranial haemorrhage (ICH) ( p = 0.002) and those with VACTERL association ( p = 0.008) had significantly decreased enjoyment with eating. In addition, children with VACTERL association had problems to find suitable foods ( p = 0.04). Conclusion : In this national cohort of VLBW and ELBW preterm-born children with OA, swallowing-related quality of life is good, mostly independent of initial surgery. Children with OA and ICH or VACTERL association may require more intense support with feeding. What is Known: • Dysphagia, resembling feeding and swallowing disorders, is common in children and adults with repaired oesophageal atresia. Nevertheless, dysphagia in children with oesophageal atresia decreases with age. • Parents of younger children suffer from increased anxiety and fear regarding eating and swallowing abilities of their children. What is New: • Swallowing-related quality of life in former preterm children with oesophageal atresia is good, independent of initial surgical approach (primary vs. staged repair), even in very low birth weight or extreme low birth weight infants. • Children suffering from VACTERL association or intracranial haemorrhage show decreased enjoyment with eating.