Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - Am Heart Assoc
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Inflammation is a major regulator of drug metabolizing enzymes and transporters: consequences for the personalization of drug treatment

F Stanke-Labesque, E Gautier-Veyret, S Chhun… - Pharmacology & …, 2020 - Elsevier
Inflammation is an evolutionary process that allows survival against acute infection or injury.
Inflammation is also a pathophysiological condition shared by numerous chronic diseases …

New and emerging targeted therapies for vascular malformations

A Van Damme, E Seront, V Dekeuleneer… - American journal of …, 2020 - Springer
Vascular malformations are inborn errors of vascular morphogenesis and consist of
localized networks of abnormal blood and/or lymphatic vessels with weak endothelial cell …

Generalized lymphatic anomaly and Gorham–Stout disease: overview and recent insights

M Ozeki, T Fukao - Advances in wound care, 2019 - liebertpub.com
Significance: Generalized lymphatic anomaly and Gorham–Stout disease are extremely rare
diseases with severe symptoms and poor prognosis. The etiology and clinical presentation …

Vascular anomalies: diagnosis of complicated anomalies and new medical treatment options

DM Adams, KW Ricci - Hematology/Oncology Clinics, 2019 - hemonc.theclinics.com
Vascular anomalies, characterized by the abnormal development or growth of blood and/or
lymphatic vessels, comprise a spectrum of diseases that have a wide range of complications …

[HTML][HTML] A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies

H Al‐Samkari, W Eng - Journal of Thrombosis and Haemostasis, 2022 - Elsevier
Vascular anomalies represent a diverse group of disorders classified broadly as
malformations or tumors and include the second most common hereditary bleeding disorder …

How we approach the diagnosis and management of complex lymphatic anomalies

KW Ricci, I Iacobas - Pediatric Blood & Cancer, 2022 - Wiley Online Library
Complex lymphatic anomalies (CLA) are congenital diseases of the lymphatic circulation
system that are associated with significant morbidity and early mortality. While guidelines for …

Sirolimus treatment in Sturge-Weber syndrome

AJ Sebold, AM Day, J Ewen, J Adamek, A Byars… - Pediatric …, 2021 - Elsevier
Abstract Background Sturge-Weber syndrome is a rare neurovascular disorder associated
with capillary malformation, seizures, cognitive impairments, and stroke-like episodes …

Patients with congenital low-flow vascular malformation treated with low dose sirolimus

VEM Harbers, GA Rongen, CJM van der Vleuten… - Advances in …, 2021 - Springer
Introduction Patients with congenital vascular malformations often suffer from an impaired
quality of life (QoL) because of pain and functional disabilities. Previous studies have shown …

Model-based precision dosing of sirolimus in pediatric patients with vascular anomalies

T Mizuno, C Emoto, T Fukuda, AM Hammill… - European Journal of …, 2017 - Elsevier
Sirolimus is the first drug to show efficacy in the treatment of patients with complicated
vascular anomalies. The current study expands on the evolution of a PK model-based …