Accuracy of point-of-care ultrasound in the diagnosis of acute appendicitis in a pediatric emergency department.

PURPOSE: To investigate the accuracy of point-of-care ultrasound (PoCUS) in diagnosing acute appendicitis in children; to evaluate the concordance between PoCUS performed by a pediatric emergency physician (PedEm) and ultrasonography (US) performed by a radiologist; to draw a "learning curve." METHODS: We prospectively enrolled children aged 0-14 years old led to the Emergency Department of Regina Margherita Children's Hospital, from January 2021 to June 2021, with suspected acute appendicitis. PoCUS was performed by a single trained PedEm, blindly to the radiologist's scan. A "self-assessment score" and the "time of duration of PoCUS" were recorded for each patient. Final diagnosis of appendicitis was made by a pediatric surgeon. RESULTS: We enrolled 62 children (2-14 years). Overall sensitivity of PoCUS was 88%, specificity 90%; PPV 90.6%, and NPV 86.6%. Global concordance between the PedEm and the radiologist was good/excellent (k 0.74). The mean duration of PoCUS significantly decreased during the study period, while the self-assessment score increased. CONCLUSION: This is a preliminary study that shows the effectiveness of PoCUS in diagnosing acute appendicitis; furthermore, it shows how the PedEm's performance may improve over time. The learning curve showed how the experience of the PedEm affects the accuracy of PoCUS.

Red Code Management in a Pediatric Emergency Department: A Retrospective Study.

The "red code" (RC) represents the highest level of emergency in the emergency department (ED). This study retrospectively analyzed RCs in the Regina Margherita Children's Hospital ED, a regional referral center in north Italy, between 1 July 2020 and 30 June 2023. The aim was to describe RC characteristics and to identify significant correlations between presenting complaints and clinical management. The study includes 934 RCs (0.9% of overall ED admissions); 64% were assigned based on the Pediatric Assessment Triangle alteration. Most patients, 86.5%, followed the medical pathway, while 13.5% were surgical cases. Admission complaints were respiratory (46.9%), neuropsychiatric (26.7%), traumatic (11.8%), cardiologic (9.3%), metabolic (3.8%), and surgical (1.5%). Seventy-six percent of patients received vascular access, and intraosseous access was obtained in 2.2% of them. In one-third of RCs, an urgent critical care evaluation was necessary, and 19% of cases required admission to the intensive care unit. The overall mortality rate was 3.4% (0.4% in ED setting). The study identified six distinct diagnostic pathways, each associated with specific characteristics in clinical presentation, management, therapeutic interventions, and outcomes. Our findings underscore the need for a systematic approach in pediatric emergency settings, supported by international and national guidelines but also by clearly defined diagnostic pathways, aiming to enhance the quality of care and patient outcomes.

Gastrostomy Intraperitoneal Bumper Migration in a Three-Year-Old Child: A Rare Complication following Gastrostomy Tube Replacement.

Feeding gastrostomy is used worldwide for adults and children with feeding impairment to obtain long-term enteral nutrition. Percutaneous endoscopic gastrostomy insertion is considered the gold standard, but after the first months requires gastrostomy tube replacement with a low-profile button. The replacement is known as an easy procedure, but several minor and major complications may occur during and after the manoeuvre. We describe intraperitoneal bumper migration in a 3-year-old boy, a rare complication following gastrostomy tube replacement, and we discuss the recent literature regarding similar cases.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Noonan syndrome (NS, OMIM 163950) is an autosomal dominant disorder, with a prevalence at birth of 1:1000-1:2500 live births, characterized by short stature, facial and skeletal dysmorphisms, cardiovascular defects and haematological anomalies. Missense mutations of PTPN11 gene account for approximately 50% of NS cases, while molecular lesions of other genes of the RAS/MAPK pathway -KRAS, SOS1 and RAF1 - play a minor role in the molecular pathogenesis of the disease. Forty patients were enrolled in the study with a PTPN11 mutation detection rate of 31.5%, including a novel missense mutation, Phe285Ile, in a familial case with high intrafamilial phenotypic variability. All patients negative for PTPN11 mutations were further screened for mutations of the KRAS, SOS1, and RAF1 genes, revealing a Thr266Lys substitution in SOS1 in a single patient, a newborn with a subtle phenotype, characterized by facial dysmorphisms and a mild pulmonic stenosis.

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion.