Neonates with vascular anomalies causing airway compromise and other complications require early initiation of medical therapy. Sirolimus has emerged as a safe and effective treatment, but standard recommendations for dosing start at seven months. Guidelines are needed for dosing in very young infants, who have reduced hepatic metabolism of sirolimus. We present our experience treating six neonates (mean age 14.8 days) with complicated vascular anomalies. Standard dosing caused supratherapeutic levels in this population. Our modified dosing regimen has resulted in safe therapeutic concentrations. Properly dosed, sirolimus is a viable and potentially lifesaving option for neonates with severe morbidity from vascular anomalies.
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http://dx.doi.org/10.1016/j.ijporl.2017.11.034 | DOI Listing |
Int J Cancer
January 2025
Division of Oncology, Department of Pediatric Surgery, and Rare Diseases Center, West China Hospital, Sichuan University, China.
Kaposiform hemangioendothelioma (KHE) is a rare vascular tumor that typically presents in infancy or early childhood. As awareness of KHE increases, it is imperative that the management of KHE be updated to reflect the latest evidence-based guidelines. The aim of this study was to integrate the literature and Chinese expert opinions to provide updated recommendations that will guide the diagnosis, treatment, and prognosis of patients with KHE.
View Article and Find Full Text PDFAnn Pediatr Cardiol
December 2024
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.
View Article and Find Full Text PDFHereditary hemorrhagic telangiectasia is an autosomal dominant disorder caused by mutations in the bone morphogenetic protein signaling pathway, leading to arteriovenous malformations. While previously thought to share molecular and cellular dysregulation, this study reveals highly distinct mechanisms depending on whether mutations occur in Alk1 or SMAD4. Loss of SMAD4 enhances endothelial cell responses to flow, including flow-regulated transcription and cell migration against blood flow, causing excessive pruning of capillaries and the formation of single large shunts.
View Article and Find Full Text PDFJ Cereb Blood Flow Metab
January 2025
Neurovascular Surgery Program, Department of Neurological Surgery, University of Chicago Medicine and Biological Sciences, Chicago, IL, USA.
Increases in mean lesional iron content by quantitative susceptibility mapping (QSM) by ≥6% and/or vascular permeability by dynamic contrast enhanced quantitative perfusion (DCEQP) by ≥40% on MRI have been associated with new symptomatic hemorrhage (SH) in cerebral cavernous malformations (CCMs). It is not known if plasma biomarkers can reflect these changes within the lesion proper. This cohort study enrolled 46 CCM patients with SH in the prior year.
View Article and Find Full Text PDFIntroduction Fetal extrahepatic portosystemic Venous Shunt (FEPSVS) are vascular malformations that divert placental and bowel blood from the liver into the systemic circulation. When uncorrected, it can lead to severe pathologic consequences after birth. Objective To report our method of prenatal diagnosis, the developing insight regarding prenatal counseling, and postnatal treatment.
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