Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.

Background: We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification.

Methods And Results: This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies.

Thoracoscopic Guided Pericostal Sutures as a Solid Fixation for Primary Closure of Congenital Diaphragmatic Hernias.

To describe a minimally invasive technique with primary closure and strong suture connection that is feasible in cases of larger, most common type B defects of congenital diaphragmatic hernia (CDH). The thoracoscopic approach (TA) is a favorable technique for the repair of CDH and is still evolving globally. A common issue is finding the optimal suture technique for secure closure in order to prevent recurrences.

Transanal Endoscopic-Assisted Pull-Through Colectomy for Children with High Intestinal Aganglionosis.

Intestinal aganglionosis in children is a common cause of neonatal and infantile obstruction or ileus. Diagnosis is based on a histologically proven absence of enteric ganglion cells in deep biopsies of the gut wall. Therapeutic goal is a one-stage repair with a resection of the affected segment.