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. PVs were detected by the targeted sequencing of panels of genes known to be associated with vascular anomalies, performed using DNA from affected tissue. Subgroup analyses were performed according to the affected genes with regard to phenotypic characteristics in a descriptive manner. Twenty-five vascular malformations, 3 vascular tumors, and 1 patient with both a vascular malformation and vascular tumor presented the following distribution of PVs in genes: Kirsten rat sarcoma viral oncogene (n=10), neuroblastoma ras viral oncogene homolog (n=1), Harvey rat sarcoma viral oncogene homolog (n=5), V-Raf murine sarcoma viral oncogene homolog B (n=8), and mitogen-activated protein kinase kinase 1 (n=5). Patients with RAS PVs had advanced disease stages according to the Schobinger classification (stage 3-4: RAS, 9/13 versus non-RAS, 3/11) and more frequent progression after treatment (RAS, 10/13 versus non-RAS, 2/11). Lesions with Kirsten rat sarcoma viral oncogene PVs infiltrated more tissue layers compared with the other PVs including other RAS PVs (multiple tissue layers: Kirsten rat sarcoma viral oncogene, 8/10 versus other PVs, 6/19). CONCLUSIONS: This comparison of patients with various PVs in genes of the RAS/MAPK pathway provides potential associations with certain morphological and clinical phenotypes. RAS variants were associated with more aggressive phenotypes, generating preliminary data and hypothesis for future larger studies.

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

Purpose: 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). Background: 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. Whether a defect can be closed only by sutures or by using a patch depends on the size of CDH, the presence of a muscular rim along the inner thoracic surface and finally on the surgeon's experience. From a geometrical point of view, the challenge is to transform the circular defect into a line, without tension, with a strong compound and preferably without additional material. To address this, we apply a setting of the sutures in a "T-shape" and a way to lead the sutures around the rib bones in order to increase stability. This method allows for the primary closure of CDHs and also applies to larger defects. Cases: We present seven newborns with posterolateral CDH on the left side. The defects were solely repaired by TA and by the suturing technique described in detail.

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. The endorectal pull-through (ERP) can be performed entirely transanally in a lot of the cases. In patients with difficult preparation or a high aganglionosis ERP often needs to be assisted by laparoscopy or laparotomy. We present two cases with a technical modification performing a totally transanal pull-through colectomy without any trocars other than an umbilical camera trocar. The procedure starts with a classical endorectal technique. Usually, the transanal preparation is limited by reaching the colon descendens. A camera trocar is inserted and under laparoscopic vision the preparation is completed placing the instruments directly via the opened anus. After reaching the healthy colon segment, the pull-through is completed transanally. One of the main advantages of ERP is the sparing dissection. Our modification combines advantages of laparoscopy and ERP. The umbilical camera allows an excellent view while the instruments for dissection are used like with ERP without any further trocar or traction of the anal sphincter. The dispensation of any transanal trocar allows a higher grade of freedom in preparation and possibly a smaller trauma on the distal anal channel.