Search Results (47)

Background: Esophageal atresia (EA) is a complex congenital anomaly frequently associated with additional malformations and genetic conditions. Despite advances in prenatal imaging and genomic technologies, establishing an etiologic diagnosis and performing accurate risk stratification remain challenging due to marked clinical and genetic heterogeneity. Methods: We conducted a retrospective cohort study of neonates diagnosed with EA and admitted to a level IIIc neonatal intensive care unit between 2005 and 2024. Prenatal findings, associated anomalies, genetic testing results, mortality, and neurodevelopmental outcomes beyond 12 months were analyzed. Results: A total of 105 neonates were included, of whom 10.5% were diagnosed prenatally. Isolated EA was identified in 55.2% of patients, whereas 44.8% had associated anomalies, most commonly congenital cardiac defects. Clinically relevant genetic findings were identified in 10.5% of the total cohort (23.4% of complex EA cases). These findings reflect a clinically selected subgroup and should not be interpreted as diagnostic yields applicable to unselected populations or as a comparison between testing modalities. Overall mortality was 11.4%. Lower birth weight showed the strongest association with mortality in univariable analyses; however, no independent predictors were inferred due to the limited number of events. All deceased patients had complex malformative conditions and/or extreme prematurity. Among children with follow-up beyond 12 months, 88.5% demonstrated age-appropriate neurodevelopment. Conclusions: EA is characterized by substantial etiologic and phenotypic heterogeneity. Prenatal detection remains challenging, although advances in fetal imaging may improve diagnostic accuracy. A phenotype-guided approach integrating clinical evaluation and genetic testing may support etiologic diagnosis, recurrence counseling, and follow-up planning in selected patients. However, because testing was indication-driven and evolved over time, the reported diagnostic yields should not be generalized to unselected EA populations or interpreted as comparative performance across testing modalities. Full article

Objective: Prolonged intubation in critically ill patients can lead to airway injury and infection. Early percutaneous dilational tracheostomy (PDT) is preferred in the intensive care unit (ICU), but the optimal guidance technique remains debated. We aimed to compare outcomes of PDT facilitated by three different guidance techniques: blind landmark, bronchoscopy-guided, and ultrasound-guided. Methods: This single-center retrospective cohort study included adults who underwent bedside PDT between 2013 and 2023. Patients were grouped by technique: bronchoscopy-guided (Group A), ultrasound-guided (Group B), and blind landmark technique (Group C). Demographics, illness severity, procedural details, complications, infection rates, and outcomes including mortality were analyzed. Results: A total of 254 patients were analyzed (118 bronchoscopy-guided, 50 ultrasound-guided, and 86 blind). Baseline illness severity scores were comparable among groups, although admission diagnosis distributions differed significantly. Tracheostomy-related complications occurred in 32% of patients, most commonly minor bleeding (~23%), with no significant intergroup differences. Early mortality following PDT (≤72 h) and post-procedural complication rates were similar among techniques. Pneumothorax and tracheoesophageal fistula were rare events. Ventilator liberation and decannulation rates did not differ significantly between groups. ICU and hospital mortality were numerically higher in the blind group; however, these findings should be interpreted cautiously because of the retrospective design and differences in admission diagnoses and case-mix between groups. Conclusions: All three PDT guidance techniques showed comparable procedural safety, with no significant differences in early complications, infection rates, or ventilator liberation. Although blind PDT was associated with higher observed mortality, this cannot be causally attributed to the technique, given the retrospective design and potential confounders. Ultrasound guidance offers practical procedural advantages and should be considered where available, pending prospective randomized confirmation. Full article

Background: Thoracic paravertebral catheters are increasingly used in neonates to avoid neuraxial techniques during thoracoscopic tracheoesophageal fistula (TEF) repair. Catheter fracture and retention are exceedingly rare in this population, and optimal management remains undefined. Learning Objectives: Recognize this complication risk in neonatal paravertebral placement; identify appropriate imaging when retention is suspected; discuss conservative and surgical approaches; and understand the importance of early transparent communication with caregivers. Case: A 2-day-old term neonate weighing 2.90 kg underwent thoracoscopic repair of type C tracheoesophageal fistula with intraoperative placement of an ultrasound-guided right paravertebral catheter for continuous analgesia. The catheter was placed at the T5 vertebral level using a 20 G, 2-inch Tuohy needle with an in-plane lateral-to-medial approach. Saline hydrodissection was used to confirm entry into the paravertebral space. A 24 G radiopaque Perifix One catheter was initially inserted but proved difficult to advance. During attempted removal, some resistance was encountered, and both the needle and catheter were withdrawn together. Subsequent inspection suggested possible catheter shortening, raising concern for a retained fragment. A second catheter of size 20 G advanced via an 18 G needle was then successfully placed at the same level and was removed without complications on postoperative day 3. Comparison with an intact reference catheter revealed that the first-placed 24 G catheter was approximately 1.5 cm shorter, although the tip appeared intact. The pain physician promptly notified both the clinical teams and the family. One month later, during routine imaging for respiratory distress, a curvilinear opacity was noted at the T9 vertebral level. Dedicated thoracic spine films confirmed a 7 mm retained paravertebral catheter fragment. Multidisciplinary consensus (pain team, anesthesia, NICU, and surgery) determined that the fragment was small, non-metallic, and remote from critical structures. Conservative management with long-term follow-up was chosen. The family was informed early during initial suspicion and again upon confirmation. At 17-month follow-up, the child remained asymptomatic. Discussion: Retained catheter fragments are rare in pediatric regional anesthesia and may be radiographically occult early. In neonates, re-operation for a tiny, inert foreign body may cause more morbidity than observation. Prevention depends on appropriate equipment selection, catheter integrity checks pre- and post-placement, careful technique, and attention to resistance or difficulty during advancement or removal. Clear and timely communication with caregivers preserves trust when complications or iatrogenic uncertainty arise. Conclusions: In this neonate, a small retained paravertebral catheter fragment was identified incidentally and was safely managed with conservative observation. When such fragments are non-metallic, stable, and located away from critical structures, non-operative management with close follow-up may be an appropriate and safe approach. Full article

Background/Objectives: Congenital gastrointestinal malformations (CGIMs) are important causes of neonatal surgical morbidity with potential long-term consequences. Although some can be suspected on prenatal ultrasound, data on their clinical spectrum, burden, and distribution remain limited in Eastern Europe. This study aimed to describe the diagnostic spectrum, timing of diagnosis, documented prenatal ultrasound suspicion, and the early outcomes of CGIMs managed at a Romanian tertiary referral centre between 2020 and 2024, a period overlapping the COVID-19 pandemic. Methods: We conducted a retrospective, single-centre observational study including all consecutive paediatric patients with a CGIM admitted between January 2020 and December 2024. Cases were analysed by index anatomical diagnosis, phenotypic complexity, and etiologic background. Logistic regression was used to examine factors associated with documented prenatal suspicion and in-hospital mortality, and annual hospital-based CGIM admission rates were modelled with Poisson regression, using the number of paediatric surgical admission as the offset. Results: Among the 231 children (58.9% male), the most frequent diagnoses were persistent omphalomesenteric duct remnants (16%), oesophageal atresia with or without tracheoesophageal fistula (15.6%), and anorectal malformations (13.9%). Documented prenatal ultrasound suspicion was present in 17.7% of pregnancies (41/231) and was likely underestimated because antenatal documentation was unavailable for 17.7% of the cohort. The highest proportions of documented prenatal suspicion were observed in jejuno-ileal and duodenal atresia. Foregut malformations were the most common by embryological grouping (93/231, 40.3%). Most cases were diagnosed during the neonatal period (n = 161, 69.7%). CGIM admission rates per 1000 surgical admissions ranged from 20.8 to 38.2. An exploratory Poisson model yielded a hospital-based rate ratio per calendar year of 0.88 (95% CI 0.81–0.97; p = 0.008). However, given the limited number of annual observations and increasing total surgical admissions, this finding should be considered exploratory and hypothesis-generating only. Complex cases accounted for 8.2% and associated extra-intestinal anomalies were present in 70.1%. In-hospital mortality was 13.0% and occurred predominantly in patients with complex or foregut malformations. In the primary complete-case multivariable model, prematurity remained independently associated with mortality, whereas complex CGIMs were not independently associated with mortality after adjustment. A prespecified multiple-imputation sensitivity analysis yielded a stronger estimate for complex CGIMs, but this finding was interpreted cautiously and not treated as a primary result. Conclusions: In this tertiary referral cohort, documented prenatal suspicion of CGIM was low and strongly diagnosis-dependent, while most cases were identified in the neonatal period. Mortality was concentrated in foregut and clinically complex presentations in the descriptive analysis, while prematurity remained independently associated with death in the primary multivariable model. These findings highlight the need to strengthen prenatal referral pathways and coordinated national surveillance. Full article

The development of the esophagus and trachea following the septation of the anterior foregut is a highly regulated process involving bidirectional communication between the endoderm and mesoderm. Signaling pathways such as the Bone Morphogenetic Protein family, Wnt/β-catenin, Sonic Hedgehog, and Fibroblast Growth Factor family mediate this complex crosstalk to induce the dorsal-ventral patterning of the anterior foregut as well as lineage specification. Even though the mechanisms are not fully understood, dysregulation of signaling pathways may lead to congenital malformations such as tracheomalacia, laryngeal–tracheal clefts and multiple types of esophageal atresia with/without tracheoesophageal fistula (EA/TEF). Human induced pluripotent stem cells (iPSCs) provide a robust in vitro platform to monitor the normal and abnormal development of esophagus and trachea and to understand the roles of the endoderm and mesoderm during anterior foregut development. Recent studies have demonstrated that direct differentiation of iPSCs into epithelial and mesenchymal lineages can recapitulate the key stages of foregut development. In this regard, in the current paper, we review the signaling pathways involved in the development of organs deriving from the anterior foregut as well as the roles of the endoderm and mesoderm revealed by previous studies. Furthermore, we discuss the use of iPSCs as a valuable model for investigating the bidirectional communications between the endoderm and mesoderm, which can broaden our knowledge and understanding of the critical mechanisms leading to normal and abnormal development of the esophagus and trachea. Full article

Objective. Limited evidence is available concerning the surgical outcomes of patients with congenital gastrointestinal malformations and perioperative SARS-CoV-2 infection. This study examines the scientific evidence on SARS-CoV-2 infection and congenital gastrointestinal malformations requiring surgery in children. Material and Methods. We performed a systematic review of studies reporting data on children with congenital gastrointestinal malformations and SARS-CoV-2 infection, published in international databases (PubMed and Embase) from pandemic inception up to August 2024. Studies not reporting data on the SARS-CoV-2 infection status on patients with congenital digestive malformation were excluded. We assessed the quality of the included studies according to the Joanna Institute (JBI) appraisal checklist, adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, and registered the protocol with the PROSPERO database (CRD42024550744). Results. From the 902 titles retrieved, eight observational studies met the inclusion criteria comprising 29 patients from countries with different socioeconomic statuses. Most patients were neonates (75%) with a median age of 3 days at diagnosis and male to female ratio of 2:1. In total, 18 (62%) presented upper gastrointestinal tract anomalies, including esophageal atresia ± tracheoesophageal fistula (n = 10, 34.48%), duodenal atresia (n = 3, 10.3%), and congenital hypertrophic pyloric stenosis (n = 5, 17.2%). Lower digestive tract malformations (11, 38%) included anorectal malformations (n = 6, 20.6%), intestinal atresia (n = 3, 10.3%), Hirschsprung disease (n = 1, 3.44%), and Meckel’s diverticulum (n = 1, 3.44%). Surgeries were primarily emergency or urgent procedures and only pyloromyotomy (5/5) was consistently operated minimally invasively. SARS-CoV-2 infection was identified mainly on routine screening (>95%). Of 29 patients, 85% were discharged home, and no postoperative surgical mortality and significant complications directly associated with COVID-19 were identified, although routine postoperative morbidity not linked to SARS-CoV-2 was observed. Conclusions. Pediatric patients with congenital gastrointestinal malformationsand perioperative SARS-CoV-2 infection typically have mild illness and favorable surgical outcomes. SARS-CoV-2 positivity alone should not delay essential surgery when infection control measures are ensured. Standardized, multicenter studies are needed to clarify perioperative risks to and inform management of this high-risk group. Full article

Aerodigestive fistulas represent a major challenge in clinical practice. This problem is burdened with severe morbidity and mortality, despite recent advantages in endoscopic endoluminal repair techniques. Special problems are fistulas localized higher, engaging the proximal esophagus and trachea, which in adults most often result from post-intubation injury. Surgery is generally demanding and reserved for the patients in whom other, less invasive options fail. Hereby, we present a case of post-intubation tracheoesophageal fistula, successfully treated with endoscopic vascular plug placement. Full article

Background/Objectives: Complex cases in pediatric surgery involving multiple congenital anomalies pose significant diagnostic and therapeutic challenges. These conditions require coordinated interdisciplinary care tailored to the individual patient. We present a case of syndromic congenital anomalies in a neonate, later diagnosed with CHARGE syndrome, to illustrate the importance of staged, multidisciplinary management. Methods: A 34-year-old woman in her third pregnancy developed significant polyhydramnios at 31 weeks of gestation, followed by preterm labor. The neonate presented with esophageal atresia with tracheoesophageal fistula (EA/TEF), intrathoracic stomach, aortic coarctation, patent ductus arteriosus, atrial septal defect, and bilateral choanal atresia. A structured treatment protocol was developed and implemented at Klinikum Stuttgart by an interdisciplinary team comprising gynecology, pediatric surgery, cardiology, ENT, neonatology, and genetics. Results: Initial pediatric surgical procedures included ligation of the tracheoesophageal fistula, repositioning of the intrathoracic stomach, and primary esophageal anastomosis. Cardiovascular anomalies were managed through staged interventions. Bilateral choanal atresia was surgically corrected. Genetic testing confirmed CHARGE syndrome. Postoperative care included respiratory support, enteral nutrition, and regular esophageal dilations. Due to persistent reflux esophagitis, antireflux surgery is planned. Conclusions: This case underscores the importance of a highly individualized and interdisciplinary approach in the management of syndromic congenital anomalies. The presence of CHARGE syndrome with multiple system involvement required careful staging of surgical interventions and long-term coordination of follow-up care. Early genetic diagnosis and integrated team planning were critical in optimizing outcomes in this complex neonatal case. Full article

Background/Objectives: The primary aim of this study was to describe all cases of fetal hemivertebrae diagnosed prenatally at the Hospital Clínico Universitario de Salamanca over the last 15 years. Additionally, the presence of associated malformations was assessed, pregnancy outcomes were evaluated, and child development results were analyzed in affected cases. Methods: We undertook a prospective observational analysis of all cases (N = 10) of prenatally diagnosed hemivertebrae at our hospital between 2007 and 2022. Postnatal follow-up was performed through telephone interviews and reviewing medical records. Results: Most cases were diagnosed during the second-trimester ultrasound, with the lumbar region being the most frequently affected site (60%). Multiple hemivertebrae were detected in 4 of 10 cases. One case of Marfan syndrome and two cases of VACTERL association (vertebral defects, anal atresia, tracheoesophageal fistula, renal dysplasia, and limb abnormalities) were documented. Six cases presented with additional malformations. Cases involving multiple hemivertebrae (40%) were more likely to be associated with other anomalies and poorer prognoses, while isolated single hemivertebra showed favorable outcomes, with normal development during childhood. Vaginal delivery occurred in six cases, while cesarean sections were performed for standard obstetric indications unrelated to the hemivertebra diagnosis. Conclusions: Prenatal diagnosis of hemivertebra is achievable and holds critical neonatal and postnatal relevance. Hemivertebrae are often linked to additional disorders, including genetic syndromes, and carry significant prognostic implications depending on the associated anomalies and the extent of vertebral involvement. Full article

Acquired tracheoesophageal fistulas (TEF) are a rare but severe complication in post-coma neurorehabilitation patients, particularly those requiring long-term tracheostomy and enteral nutrition. Early recognition and proper surgical management are critical to prevent life-threatening outcomes and functional deterioration. However, variability in clinical presentation and the lack of standardized multidisciplinary pathways often delay referral to thoracic surgeons. We present the case of a young patient with severe traumatic brain injury, prolonged tracheostomy, and percutaneous endoscopic gastrostomy (PEG), who developed a TEF due to tracheal ischemic injury. Clinical suspicion arose from indirect signs—such as recurrent aspiration and air in the PEG system—the diagnosis was confirmed by bronchoscopy and sagittal CT imaging. Surgical planning was carried out in close collaboration between rehabilitation physicians and thoracic surgeons, based on shared criteria involving ventilator weaning, nutritional status, and clinical stability. This case highlights the importance of a multidisciplinary, protocol-driven approach in managing TEF. Current literature supports timely but carefully selected surgical intervention, particularly in patients who are no longer ventilator-dependent, significantly reducing perioperative mortality (reported up to 60% in ventilated patients). Recent reviews advocate for standardized surgical techniques—such as single-stage repair with muscle flap interposition—and emphasize the value of early diagnosis using a combination of bronchoscopy, videofluoroscopy, and sagittal CT. We propose a structured clinical pathway integrating neurorehabilitation and thoracic surgery, aimed at optimizing timing and surgical outcomes in patients with acquired TEF. This model may serve as a foundation for future guidelines, improving both safety and efficiency in the multidisciplinary management of this complex complication. Full article

Background/Objectives: Total laryngectomy (TL) remains a key treatment option for advanced laryngeal cancer. Primary tracheoesophageal puncture (TEP) with voice prosthesis (VP) enables early speech restoration and is increasingly adopted, even in patients with conditions traditionally considered contraindications, such as prior/adjuvant radiotherapy, extended resections, and immediate reconstructive procedures. This study evaluates complication rates and long-term outcomes associated with primary TEP in these settings. Methods: A retrospective cohort of 101 patients undergoing TL for laryngeal or hypopharyngeal squamous cell carcinoma at the University Hospital of Sassari (August 2017–December 2024) was analyzed. Demographic, clinical, surgical, and oncological data were collected, with a particular focus on postoperative early complications and late sequelae and oncological outcomes. Results: Primary TEP was performed in 78 patients (77.2%). Overall, pharyngocutaneous fistula occurred in 6/101 patients (5.9%), postoperative bleeding in 5/101 (5.0%), and dysphagia in 11/101 (10.9%), with only 2/11 (2.0%) requiring intervention. Mean follow-up was 44.6 ± 3.2 months (median 41, range 4–93). No significant association was found between primary TEP and complication rates, including in patients undergoing enlarged TL with pectoralis major reconstruction. Conclusions: Primary TEP appears safe and effective, even in cases requiring extended resections and reconstructive procedures. It should be considered to enhance functional recovery and postoperative quality of life for all motivated patients undergoing total laryngectomy without patient-related contraindications. Our findings may constitute a step towards personalized medicine in laryngeal oncology as they support priortizing patient-specific factors, such as pneumological and neurological clinical conditions and level of cooperation, over purely surgical considerations. Full article

Background: Minimally invasive surgery (MIS) is increasingly adopted in pediatric surgical practice, yet it demands specific technical skills that require structured training. Simulation-based education offers a safe and effective environment for skill acquisition, especially in complex procedures such as thoracoscopic repair of esophageal atresia with tracheoesophageal fistula (EA-TEF). Objective: This study aimed to evaluate the effectiveness of a 3D-printed simulator for training pediatric surgeons in thoracoscopic EA-TEF repair, assessing improvements in operative time and technical performance. Methods: A high-fidelity, 3D-printed simulator replicating neonatal thoracic anatomy was developed. Six pediatric surgeons at different training levels performed eight simulation sessions, including fistula ligation and esophageal anastomosis. Operative time and technical skill were assessed using the Stanford Microsurgery and Resident Training (SMaRT) Scale. Results: All participants showed significant improvements. The average operative time decreased from 115.6 ± 3.51 to 90 ± 6.55 min for junior trainees and from 100.5 ± 3.55 to 77.5 ± 4.94 min for senior trainees. The mean SMaRT score increased from 23.8 ± 3.18 to 38.3 ± 3.93. These results demonstrate a clear learning curve and enhanced technical performance after repeated sessions. Conclusions: Such 3D-printed simulation models represent an effective tool for pediatric MIS training. Even within a short time frame, repeated practice significantly improves surgical proficiency, supporting their integration into pediatric surgical curricula as an ethical, safe, and efficient educational strategy. Full article

Background: The bone morphogenetic protein (BMP) signaling pathway is essential for lung development. BMP4, a key regulator, binds to type I (BMPR1) and type II (BMPR2) receptors to initiate downstream signaling. While the inactivation of Bmpr1a and Bmpr1b leads to tracheoesophageal fistulae, the role of BMPR2 mutations in lung epithelial development remains unclear. Methods: We generated induced pluripotent stem cells (iPSCs) from a patient carrying a BMPR2 mutation (c.631C>T), and gene-corrected isogenic controls were created using CRISPR/Cas9. These iPSCs were differentiated into lung progenitor cells and subsequently cultured to generate alveolar and airway organoids. The differentiation efficiency and epithelial lineage specification were assessed using immunofluorescence, flow cytometry, and qRT-PCR. Results: BMPR2-mutant iPSCs showed no impairment in forming a definitive or anterior foregut endoderm. However, a significant reduction in lung progenitor cell differentiation was observed. Further, while alveolar epithelial differentiation remained largely unaffected, airway organoids derived from BMPR2-mutant cells exhibited impaired goblet and ciliated cell development, with an increase in basal and club cell markers, indicating skewing toward undifferentiated airway cell populations. Conclusions: BMPR2 dysfunction selectively impairs late-stage lung progenitor specification and disrupts airway epithelial maturation, providing new insights into the developmental impacts of BMPR2 mutations. Full article

This case series presents four pediatric patients who developed tracheal complications after prolonged invasive mechanical ventilation. The first case involved an 11-year-old girl with severe hypoxic encephalopathy who developed extensive ulcerative granulation tissue obstructing 60% of the tracheal lumen. The second case was that of a 6-year-old boy with ACTA1-related nemaline myopathy who experienced recurrent tracheal obstruction due to granulomatous tissue formation. The third case involved a 9-year-old boy with hydroxyglutaric aciduria and a large plug obstructing his trachea. The last case involved a 19-year-old female with lissencephaly who developed a tracheoesophageal fistula. These cases highlight the importance of regular surveillance and early intervention in managing tracheal complications in pediatric patients with complex chronic conditions requiring long-term mechanical ventilation. The authors emphasize the need for specialized care and routine endoscopic examinations in order to prevent and address potentially life-threatening complications in this vulnerable patient population. Full article

Background: Esophageal atresia (EA) type A, characterized by the absence of a tracheoesophageal fistula and typically presenting with a long esophageal gap, usually requires staged repair. Methods: We report a rare case of a newborn with type A EA in which both the proximal and distal esophageal pouches were unexpectedly close and located in the cervical region. This anatomical variant allowed for a successful primary anastomosis through a cervical approach. Results: Initial imaging was misleading, and the true anatomy was clarified only through thoracoscopic exploration, underscoring the importance of intraoperative flexibility. Conclusions: To our knowledge, this is the first report of such a presentation in type A EA, with significant implications for diagnosis and surgical strategy. Full article