Variations in Epithelial Lining of Duplication Cysts Cannot be Explained by Known Theories.

Objectives. Duplication cysts are found in any part of the gastrointestinal tract from the oropharynx to anus. Although duplication cysts usually have similar epithelium with the adjacent organ, respiratory epithelium in the enteric duplication cysts is rarely reported. This study was performed to evaluate the variations in the epithelial lining of duplication cysts and its clinical implications. Methods. Patients diagnosed with duplication cysts between 2012 and 2022 were retrospectively reviewed to assess their histopathological results, clinical aspects, treatment options, and demographic characteristics. Results. Twenty-five patients were included. The mean age was 4 years, male-to-female ratio was 15:10. The localizations of duplication cysts were ileum (n = 12), duodenum(n = 4), stomach(n = 3), jejunum(n = 2), colon(n = 2), thoracoabdominal(n = 2), and rectum(n = 1). Most common presentation was abdominal pain (36%). Intestinal (48%) and gastric (40%) epithelia were the most common finding. Four patients (16%) had respiratory epithelium: two in foregut duplication cysts, one each in ileal, and rectal duplications. Twenty-four percentage of patients had associated anomalies. Surgical interventions were performed on 22 patients. Conclusion. Duplication cysts show a wide range of epithelial linings. Respiratory epithelium can be found in not only foregut duplication cysts but also midgut and hindgut duplication cysts. Although the presence of respiratory epithelium did not have any impact on clinical findings, none of the previous theories explain the presence of respiratory epithelium different from foregut duplications.

Determining the Risk Factors for Anastomotic Stricture Development after Esophageal Atresia Repair: Results from the Turkish Esophageal Atresia Registry.

INTRODUCTION: Anastomotic stricture (AS) is the second most common complication after esophageal atresia (EA) repair. We aimed to evaluate the data in the Turkish Esophageal Atresia Registry to determine the risk factors for AS development after EA repair in a large national cohort of patients. METHODS: The data between 2015 and 2021 were evaluated. Patients were enrolled into two groups according to the occurrence of AS. Patients with AS (AS group) and without AS (non-AS group) were compared according to demographic and operative features, postoperative intubation status, and postoperative complications, such as anastomotic leaks, fistula recanalization, and the presence of gastroesophageal reflux (GER). A multivariable logistic regression analysis was performed to define the risk factors for the development of AS after EA repair. RESULTS: Among the 713 cases, 144 patients (20.19%) were enrolled into the AS group and 569 (79.81%) in the non-AS group. The multivariable logistic regression showed that, being a term baby (odds ratio [OR]: 1.706; p = 0.006), having a birth weight over 2,500 g (OR: 1.72; p = 0.006), presence of GER (OR: 5.267; p < 0.001), or having a recurrent tracheoesophageal fistula (TEF, OR: 4.363; p = 0.006) were the risk factors for the development of AS. CONCLUSIONS: The results of our national registry demonstrate that 20% of EA patients developed AS within their first year of life. In patients with early primary anastomosis, birth weight greater than 2,500 g and presence of GER were risk factors for developing AS. When patients with delayed anastomosis were included, in addition to the previous risk factors, being a term baby, and having recurrent TEF also became risk factors. LEVEL OF EVIDENCE: III.

AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis.

Placental transmogrification of the lung (PTL) is a rare pulmonary condition characterized by the presence of immature placental villous structures. The etiology and molecular mechanisms underlying this disease remain largely unknown. This functional study aimed to identify the molecular signatures in the pathogenesis of PTL via comprehensive transcriptome analysis. Comparative transcriptomic assessment of PTL tissue and stromal cells showed differential expression of 257 genes in PTL tissue and 189 genes in stromal cells. Notably, several transcription factors and regulators, including FOSB, FOS, JUN, and ATF3, were upregulated in PTL tissue. Additionally, genes associated with the extracellular matrix and connective tissue, such as COL1A1, MMP2, and SPARC, were significantly altered, indicating possible fibrotic changes. Gene set enrichment analysis highlighted the role of vascular development and extracellular matrix organization, and the Activator Protein-1 (AP-1) transcription factor was significantly activated in PTL tissue. Furthermore, the analysis highlighted an overlap of 25 genes between PTL tissue and stromal cells, underscoring the importance of shared molecular pathways in the pathogenesis of PTL. Among the shared genes, JUND, COL4A2, COL6A2, IGFBP5, and IGFBP7 were consistently upregulated, highlighting the possible involvement of AP-1-mediated signaling and fibrotic changes in the pathogenesis of PTL. The present findings pave the way for further research into the molecular mechanisms underlying PTL and offer novel insights for therapeutic interventions. Given the rarity of PTL, these molecular findings represent a significant step forward in our understanding this enigmatic disease.

The role of malnutrition on outcomes of multisystem inflammatory syndrome in children (MIS-C) due to COVID-19.

BACKGROUND: Malnutrition increases the complications and mortality in critically-ill children. We performed a retrospective analysis to define the impact of malnutrition on the outcomes of multisystem inflammatory syndrome in children (MIS-C) due to COVID-19. METHODS: Patients with MIS-C were evaluated for demographic features, anthropometric parameters, clinical findings and outcomes. Patients with z scores of body mass index (> 5 years) and weight-for-age (< 5 years) < -2 were considered malnourished. Sarcopenia was defined by total psoas muscle area (tPMA), calculated on abdominal computed tomography (CT) at the level of L3 and L4 vertebrae. The z scores <- 2 for tPMA were considered sarcopenia. The results of patients with and without malnutrition were compared. RESULTS: Twenty-seven patients were included. Forty-four percent (n=12) of patients had malnutrition. Malnutrition was classified as mild to moderate (1/3), severe (1/3) and overweight (1/3). Eighty-two % of cases had acute malnutrition. Among MIS-C symptom criteria, rash was significantly higher in children with malnutrition (p<0.05). Laboratory investigations showed higher ferritin levels in patients with malnutrition (p<0.05). The median tPMA and sarcopenia were significantly higher in patients with malnutrition when compared to patients without malnutrition (42% vs 7%, p<0.05). The oral feeding time, complication rates, and length of hospital stay were similar in both groups (p>0.05). CONCLUSION: Children with MIS-C already had mild to severe malnutrition at admission. Rash and higher ferritin levels were more common in patients with malnutrition. In addition to anthropometric parameters, sarcopenia calculated using tPMA can be used to predict malnutrition in critically-ill children.

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD. In this study, we report a new patient with Jeune ATD, in whom exome sequencing revealed a novel homozygous GRK2 variant, and we review the clinical features and radiographic findings. In addition, our findings introduce Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and midgut malrotation for the first time in the context of this recently characterized GRK2-related skeletal ciliopathy.

European Pediatric Surgeons' Association Survey on Timing of Inguinal Hernia Repair in Premature Infants.

AIM: This article evaluates the practice patterns of European Pediatric Surgeons' Association (EUPSA) members regarding the timing of inguinal hernia (IH) repair in premature infants. METHODS: Online survey containing 29 questions distributed to EUPSA members during January 2023. RESULTS: A total of 180 responds were received. Overall, IH repair prior to discharge was favored by 60% of respondents when there was a history of incarceration and 56% when there was not. In the case of very/extremely premature infants (< 32 weeks) with no history of incarceration, fewer (43%) respondents postpone the surgery until after discharge. The majority of respondents cited the risk of incarceration as the reason for advocating surgery prior to discharge, whereas a reduced risk of apnea was the most cited reason for respondents who prefer delayed surgery. Open approach under general anesthesia was favored by 54% of respondents, with 27% of them preferring open approach with spinal anesthesia. Laparoscopic surgery for premature infants is used in 11% while 7% of them preferred in all premature infants including extremely/very premature ones. Contralateral side evaluation was never done by 40% of respondents and 29% only performed it only during laparoscopic repair. The majority of respondents (77%) indicated that they have an overnight stay policy for premature infants < 45 weeks of gestation. CONCLUSION: There is variation in the practice patterns of pediatric surgeons in the treatment of IH in premature infants. Due to the concern for the high risk of incarceration, IH repair before discharge was the most prevalent practice. Lower risk of postoperative apnea was cited as the most common reason for delaying surgery. Randomized studies are required to establish the optimal timing for IH repair in premature infants.

Magnet ingestion in growing children: a multi-center observational study on single and multiple magnet incidents.

Over the past 15 years, there has been a noticeable uptick in incidents involving children ingesting multiple magnetic foreign bodies which can cause injuries and gastrointestinal complications including death. The current study aimed to identify the prevalence, clinical presentation, and management of single or multiple magnet ingestions. A retrospective multi-central cross-sectional study was conducted to include all pediatric patients < 18 years presented to the emergency department with ingestion of single or multiple magnets and admitted across hospitals in Qatar, UAE, KSA, Tunisia, and Turkey between January 2011 and December 2021. Demographics, symptoms, management, and outcomes were analyzed. There were 189 magnet ingestions, of which 88 (46.6%) were multiple magnet ingestions. Most patients (55.6%) were male, and the median age was 3.9 (IQR 2-7) years. An abdominal X-ray was obtained in all cases. 119 (62%) patients were conservatively treated, 53 (28%) required surgical intervention and 17 (8.9%) underwent gastroscopy. None of the patients with single magnet ingestions experienced morbidity or severe outcomes. Multiple magnet ingestions led to significant morbidity including hospitalizations, perforations (44.3%), severe intestinal necrosis (19.3%), peritonitis (13.6%), severe abdominal infection (10.2%), and septic shock (4.5%). The rate of surgical intervention (59.1% vs. 1.0%) and gastroscopy (15.9% vs. 3.0%) was significantly higher in the multiple ingestion group compared to the single magnet ingestion group. No deaths were identified. A high risk of serious complications, including the need for surgery to remove the magnets and substantial morbidity may result from swallowing more than one magnet. Magnet safety requirements, public education, and improved legislation are urgently required.

Esophageal Atresia Associated with Congenital Duodenal Obstruction: Turkish Esophageal Atresia Registry (TEAR) Evaluation.

INTRODUCTION: Coexistent congenital duodenal obstruction and esophageal atresia (EA) is known to have significant morbidity and mortality. Management strategies are not well-defined for this association. The data from the Turkish EA registry is evaluated. MATERIALS AND METHODS: A database search was done for the years 2015 to 2022. RESULTS: Among 857 EA patients, 31 (3.6%) had congenital duodenal obstruction. The mean birth weight was 2,104 (± 457) g with 6 babies weighing less than 1,500 g. Twenty-six (84%) had type C EA. The duodenal obstruction was complete in 15 patients and partial in 16. Other anomalies were detected in 27 (87%) patients. VACTERL-H was present in 15 (48%), anorectal malformation in 10 (32%), a major cardiac malformation in 6 (19%), and trisomy-21 in 3 (10%). Duodenal obstruction diagnosis was delayed in 10 (32%) babies for a median of 7.5 (1-109) days. Diagnosis for esophageal pathologies was delayed in 2. Among 19 babies with a simultaneous diagnosis, 1 died without surgery, 6 underwent triple repair for tracheoesophageal fistula (TEF), EA, and duodenal obstruction, and 3 for TEF and duodenal obstruction in the same session. A staged repair was planned in the remaining 9 patients. In total, 15 (48%) patients received a gastrostomy, the indication was long-gap EA in 8. Twenty-five (77%) patients survived. The cause of mortality was sepsis (n = 3) and major cardiac malformations (n = 3). CONCLUSION: Congenital duodenal obstruction associated with EA is a complex problem. Delayed diagnosis is common. Management strategies regarding single-stage repairs or gastrostomy insertions vary notably depending on the patient characteristics and institutional preferences.

CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.

BACKGROUND: The familial occurrence of esophageal atresia and tracheoesophageal fistula (EA-TEF) is very rare and the genetic basis behind the isolated familial cases have not been identified. A male infant born with EA-TEF and his affected father were evaluated with whole genome sequence to define a genetic causative variation in paternally inherited EA-TEF. CASE REPORT: A male infant was born to 29-years-old, gravida 1, para 1 women by normal vaginal delivery. The patient was diagnosed as Type-C EA-TEF. In his family history, his father was also operated for EA-TEF during neonatal period. He had no associated anomaly despite patent foramen ovale. Genomic DNAs were extracted from peripheral blood of the patient and the father. When causative genes responsible for EA-TEF were filtered out, four different variants in NOTCH2, SAMD9, SUPT20H and CHRND were found. Except the variant found in CHRND (NM_000751.2, c.381C>G, p.(Tyr127Ter)), other three variants were not found to be segregated with the father who has EA-TEF also. This nonsense variant was not found in GnomAD database. CONCLUSION: CHRND variant found in both EA-TEF patient and his affected father suggest that CHRND variant might possibly be considered as one of the causative genetic variants in familial isolated EA-TEF patients.

Dynamic Imaging Grade of Swallowing Toxicity in Children with Esophageal Atresia.

INTRODUCTION: The Dynamic Imaging Grade of Swallowing Toxicity (DIGEST) scale was developed to evaluate the safety, efficiency, and overall pharyngeal swallowing performance in patients with dysphagia (DIGESTs, DIGESTe, and DIGESTt, respectively). Although various types of swallowing dysfunction are encountered in children with esophageal atresia (EA), oropharyngeal dysphagia poses risk for aspiration. Therefore, a retrospective study was performed to evaluate the safety and efficacy of swallowing by using DIGEST score in children with EA. PATIENTS AND METHODS: Thirty-nine EA patients were included. The demographic features, respiratory problems, results, and outcomes of surgical treatment were evaluated from medical records. The videofluoroscopic swallowing evaluation investigated for both airway protection and bolus residuals at the level of vallecula, posterior pharyngeal wall, and pyriform sinus at liquid and pudding consistencies. The penetration and aspiration scale (PAS) was used to define penetration and aspiration severity, and DIGEST was used to evaluate DIGESTs, DIGESTe, and DIGESTt. RESULTS: The median age of the patients were 13 months (7-39 months), and male-to-female ratio was 25:14. Sixty-seven percent of patients were type-C EA and 61% of them has associated anomalies; 38% of patients had aspiration (PAS = 6-8) in liquids and 10% in pudding consistency. Life-threatening/profound swallowing dysfunction in DIGESTe (DIGEST = 4) was seen in 13% (n = 5) of patients; 40% of EA patients showed severe problems in DIGESTt. CONCLUSION: DIGEST is a valid and reliable tool to define the efficacy and safety of swallowing in children with EA.

European Paediatric Surgeons' Association Consensus Statement on the Management of Neonatal Ovarian Simple Cysts.

INTRODUCTION: Neonatal ovarian simple cyst management from the pediatric surgical aspect is unclear on cyst size, follow-up, and preferred surgical approach. Therefore, this topic was selected for the 2022 Consensus Session meeting of the European Paediatric Surgeons' Association (EUPSA). METHODS: The literature was reviewed on a predefined set of questions relating to the management of the neonatal ovarian simple cysts by a panel of 7 EUPSA members, on current evidence-based opinion and practice outlined. Each question (1) outcomes of fetal interventions in neonates after birth and consensus on size/timing of intervention, (2) consensus on the type of interventions, and (3) complications in neonatal ovarian cysts and follow-up recommendations in nonoperated/operated cysts, was presented with available evidence to congress session participants. The management approach was agreed by participants and comments were accounted to formulate the consensus statement. RESULTS: There is still limited data on potential benefits and complications of prenatal ultrasound-guided aspiration; however, neonates after such procedures should be followed for 6 months. Neonates with simple ovarian cysts larger than 4 cm should be offered surgical interventions within the 2 weeks of life with complete laparoscopic cyst aspiration and fenestration with bipolar instruments being the preferred approach. Ultrasound follow-up after surgical intervention after 3 months and with the conservative approach after every 3 to 4 months until 1 year. CONCLUSION: A peer-reviewed consensus statement for the management of neonatal ovarian simple cyst was formulated based on current evidence and peer practice. The EUPSA recognizes that the statement can be useful for pediatric surgeons in decision making for this pathology.

The role of distance between upper and lower esophageal pouches to predict the possibility of delayed repair in children with isolated esophageal atresia.

AIM: A retrospective study was performed to evaluate the role of distance between upper and lower esophageal pouches and pouch lengths to predict delayed primary repair (DPR) in patients with isolated esophageal atresia (EA). METHODS: Patients with isolated EA were evaluated for demographic features, associated anomalies, surgical options, and complications. The babygrams obtained for evaluating gap assessment were examined for the distance between pouches and pouch lengths. Patients were divided into two groups: DPR and esophageal replacement (ER). RESULTS: Fourteen cases with a mean age of 4.1 ± 1.9 years (1-9 years) were included. Female to male ratio was 6:8. There was no significant difference between DPR and ER groups for pouch lengths. The median distance between two pouches were significantly higher in ER group [50 mm (29.4-83.6) vs 18.8 mm (3.4-34.5) (p < 0.05)]. The distance between two pouches and pouch lengths were similar in patients with and without anastomotic strictures (p > 0.05). CONCLUSION: Both upper and lower pouch lengths were shorter in ER group compared to DPR group. However, pouch lengths cannot be considered as a single criterion to predict the need for ER. Large cohort of patients are needed to define the cut-off values for shortest pouch length to achieve a DPR.

Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture.

BACKGROUND: Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD. METHODS: A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs. Recruitment of centres was done by the ERNs and EUPSA, using mailing lists and social media accounts. Only descriptive statistics were reported. RESULTS: In total, 82 centres from 21 different countries entered the survey. Approximately half of them were ERN network members. Seventy-two centres (87.8%) had a self-reported area of expertise for both ARM and HD. Specific TOC programs were installed in 44% of the centres and AC programs in 31% of these centres. When comparing centres, wide variation was observed in the content of the programs. CONCLUSION: Despite the awareness of the importance of TOC and AC programs, these programs were installed in less than 50% of the participating centres. Various transition and AC programs were applied, with considerable heterogeneity in implementation, content and responsible caregivers involved. Sharing best practice examples and taking into account local and National Health Care Programs might lead to a better continuation of care in the future. LEVEL OF EVIDENCE: III.

Plastic bronchitis during childhood: Diversity of presentation, etiology, treatment, and outcomes.

OBJECTIVE: Plastic bronchitis (PB) is a rare disease in children, and reliable data are scarce. Here, we aimed to analyze the clinical features, management, and outcomes in children with PB. METHODS: The medical data of patients who were followed up with a diagnosis of PB between January 2010 and March 2022 were retrospectively analyzed. RESULTS: The median age of 15 patients was 9 (interquartile range: 4-10) years with a male/female ratio of 12/3. Initial symptoms included recurrent pneumonia (33.3%), persistent atelectasis (33.3%), cast expectoration (26.6%), and intense, persistent cough (6.6%). The most common underlying diagnosis was asthma (n = 12, 80%), and six of the patients were newly diagnosed. The most common radiological findings were atelectasis as a consequence of major airway obstruction on chest X-ray or computed tomography. Five patients, all diagnosed as having asthma, had recurrent PB and required multiple airway procedures for treatment and diagnosis. During a median 7-year follow-up of five patients, occasionally cast expectoration was observed in one patient with asthma who had poor compliance with inhaled corticosteroids. CONCLUSION: PB is a common reflection of the different underlying etiologies in the pediatric age group, and treatment and outcomes are closely related to these. It should be kept in mind that asthma can be a predisposing factor for the development of PB.