Marco Di Mitri

Biallelic variants in PAICS , one of the 10 genes involved in the de novo purine synthesis (DNPS), were originally associated with an extremely rare phenotype characterized by multiple and severe congenital abnormalities, such as polyhydramnios due to esophageal atresia, congenital heart disease, and urogenital anomalies, which were lethal within the first days of life. Vertebral and limb defects, as well as distinctive craniofacial features, were also described. To date, three patients with these clinical characteristics but without neurologic involvement have been described in the literature. More recently, two siblings with none of these features but presenting a severe neurodevelopmental phenotype with regression and ocular involvement have been reported. We describe a new patient with two compound heterozygous variants in the PAICS gene, p.Ser35Phe and p.Cys281Ter, born with multiple congenital malformations overlapping those reported in the originally described patients: esophageal atresia, lung hypoplasia, vertebral anomalies, cryptorchidism, short stature, and dysmorphic facial features. He also had developmental delay; however, epilepsy did not occur. The features presented by our patient and the relatively longer follow up allowed us to detect in a single patient almost all the features previously described in different families.

Background: Preservation of ovarian function is a major objective in the surgical management of benign ovarian tumours in pediatric and adolescent patients. Robotic-assisted surgery may facilitate ovarian-sparing procedures by improving surgical precision and dissection capabilities. This study aimed to evaluate the feasibility and perioperative safety of robotic-assisted ovarian-sparing surgery and to compare outcomes with a pre-robotic cohort. Methods: A single-centre retrospective comparative cohort study was conducted at a tertiary pediatric referral centre. Consecutive patients aged ≤18 years undergoing surgery for radiologically suspected benign ovarian tumours between January 2023 and December 2025 were included. Patients were divided into a pre-robotic cohort (2023–2024) and a robotic cohort (2025). The primary outcome was the rate of ovarian-sparing surgery. Secondary outcomes included conversion to open surgery, operative time, length of hospital stay (LOS), postoperative complications, reoperation, and postoperative analgesic consumption. Results: Twenty-four patients were included: 14 in the pre-robotic cohort and 10 in the robotic cohort. Baseline demographic characteristics were comparable between groups. Ovarian-sparing surgery was achieved in all robotic cases (100%) compared with 85.7% in the pre-robotic cohort. No conversions to open surgery occurred in the robotic group, whereas two conversions/oophorectomies occurred in the pre-robotic cohort. Operative time was longer in the robotic cohort (median 2:27:30 vs. 1:42:00; p =0.021), while LOS remained comparable. No intraoperative complications or surgical site infections were observed. One robotic patient required reoperation for trocar-site bleeding. Opioid rescue therapy was significantly less frequent in the robotic cohort (10% vs. 50%; p =0.048). Conclusions: Robotic-assisted ovarian-sparing surgery for benign ovarian tumours in pediatric and adolescent patients is feasible and safe. Robotic technology may facilitate fertility-preserving surgery by supporting precise tumour enucleation and consistent preservation of healthy ovarian tissue, particularly in technically demanding cases.

Percutaneous tracheotomy represents a critical airway procedure, yet training opportunities in pediatric patients remain limited due to the low incidence and high risk associated with the procedure. Simulation-based training plays a key role in enabling physicians to develop procedural skills in a safe environment. This study presents the design, fabrication, and validation of a high-fidelity physical simulator for pediatric percutaneous tracheotomy using the Frova screw technique. The simulator reproduces the anatomy of an eight-year-old patient in a hyperextended neck position, allowing rigid bronchoscope insertion, and includes relevant anatomical landmarks. The presence of a blood pocket enhances procedural realism. The modular design, with a reusable base and disposable cartridge, enables rapid reset between sessions while minimizing maintenance costs. Soft tissues were reproduced through silicone molding, while rigid components were fabricated using fused deposition modeling 3D printing. Validation was performed by 39 physicians using a structured five-point Likert scale questionnaire. The simulator achieved a mean score of 4.2/5, with item scores ranging from 3.6 to 4.7, indicating a high level of perceived realism, procedural fidelity, and educational value, as well as highlighting potential areas of improvement. These findings suggest that the proposed simulator is a useful tool for simulation-based education, with the potential to improve operator confidence and patient safety in complex airway emergencies.

Background: Informed consent (IC) is essential in medical decision‐making, ensuring that patients and their families fully understand the consequences of treatment options. In pediatric surgery, however, the process is often inadequate due to limited consultation time, high parental anxiety, and widespread misinformation. This study evaluates the effectiveness of the “ChPedBo” smartphone application in improving parental understanding and reducing preoperative anxiety. Methods: A prospective observational study was conducted at the Department of Pediatric Surgery, IRCCS Sant’Orsola‐Malpighi University Hospital of Bologna. A total of 150 questionnaires were distributed to parents of children scheduled for elective surgery; 100 completed questionnaires were included in the final analysis. Parents completed a structured 9‐item questionnaire assessing knowledge, anxiety, usefulness, and satisfaction before and after using the “ChPedBo” app. Statistical analysis included the Wilcoxon signed‐rank test, with a significance threshold set at p < 0.05. Results: Parental knowledge of their child’s condition significantly improved after using the app, with mean scores increasing from 2.39 to 3.14 ( p = 3.88 × 10 ⁻⁶ ). Similarly, comprehension of the surgical procedure improved from 2.27 to 3.20 ( p = 1.71 × 10 ⁻⁶ ). Preoperative anxiety levels decreased from 1.64 to 1.36 ( p = 0.0073). The app was rated highly useful (mean score 2.64) and received a high overall satisfaction rating (mean score 2.70). Conclusions: The “ChPedBo” app significantly enhanced parental understanding and reduced preoperative anxiety, demonstrating its potential as a valuable digital tool in the IC process for pediatric surgery. Future studies should explore its application in emergency settings and its long‐term impact.

Background: Double blind-ending ureter (DBU) is an extremely rare congenital anomaly involving a duplicated ureter with no connection to the renal pelvis or bladder, making diagnosis difficult. Case Description: A 10-year-old girl presented with recurrent abdominal pain and ultrasound evidence of left hydroureteronephrosis. Magnetic resonance imaging (MRI) and three-dimensional (3D) reconstruction revealed a 30 cm blind-ending ureter. Robotic-assisted excision (Da Vinci Xi) was performed safely, preserving adjacent structures. Histology confirmed a nonfunctional ureteral remnant. Conclusions: DBU is a rare duplication variant. Advanced imaging and robotic surgery are essential for accurate diagnosis and effective, minimally invasive treatment.

Objectives: Transanal irrigation (TAI) is an emerging minimally invasive therapy for children with severe bowel dysfunction, including fecal incontinence and refractory constipation. The aim of this study was to evaluate the impact of TAI on bowel habits, medication use, quality of life, and caregiver burden in a pediatric population. Methods: A prospective observational study was conducted on 20 pediatric patients with fecal incontinence. A structured questionnaire assessing bowel function and quality of life was administered at baseline and after 60 days of TAI. Outcomes were compared using Fisher’s exact and Wilcoxon signed-rank tests. Results: Significant improvements were observed in bowel care time ( p < 0.01), frequency of soiling ( p < 0.01), fecal incontinence episodes ( p < 0.01), and dependence on laxatives or enemas ( p < 0.01). Social participation and emotional well-being also improved. Most patients reported better autonomy and reduced discomfort related to bowel management. Conclusions: TAI is an effective strategy to improve continence, reduce the burden of bowel care, and enhance quality of life in children with refractory bowel dysfunction.

Background: Aorto-esophageal fistula (AEF) is a rare but life-threatening condition in children following foreign body (FB) ingestion, with button batteries (BB) being the most dangerous. These batteries involve severe tissue necrosis due to chemical and electrical reactions, often leading to fistula formation and catastrophic hemorrhage. Appropriate treatment for AEF is still undefined. Method: This report presents a novel case of AEF closure using a covered stent in a 4-year-old boy, complemented by a narrative review of 36 reported pediatric AEF cases from 1988 to 2024. Results: The review revealed that BB ingestion accounted for 67% of AEF cases, with a high mortality rate of 43%, underscoring the critical nature of this condition. Early symptoms are often nonspecific, leading to delayed diagnoses, which worsen outcomes. Computed tomography (CT) is the key imaging modality for detecting vascular complications such as AEF, while X-ray may help identify the foreign body, but is often insufficient to assess associated injuries. While surgical repair remains the mainstay of treatment, minimally invasive techniques, such as endovascular approaches, are emerging as viable options. Conclusions: This study highlights the need for heightened public awareness, safer battery designs, and prompt, multidisciplinary interventions to improve patient outcomes. Future research should focus on refining diagnostic protocols, evaluating innovative management strategies, and establishing comprehensive registries to inform evidence-based guidelines and optimize care.

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.