Repurposing of antiangiogenic agents for treatment of vascular anomalies

J Blatt, JE Brondon, EL Nieman, K Phillips… - Pharmacology & …, 2023 - Elsevier
Vascular anomalies (VA) are developmental anomalies of veins, arteries, lymphatics or
capillaries thought to be caused by mutations in genes that drive angiogenesis. Treatments …

Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022

J Wu, Y Yang, J Yu, L Qiao, W Zuo, B Zhang - Orphanet Journal of Rare …, 2023 - Springer
Background Compassionate use is a system that provides patients with expedited access to
drugs which has not yet been approved, but currently in clinical trials. The investigational …

Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity

M Sterba, P Pokorna, R Faberova, B Pinkova… - Scientific reports, 2023 - nature.com
This was a prospective cohort study of eighteen patients with large and debilitating vascular
malformations with one or more major systemic complications. In all patients, we discovered …

Congenital Vascular Malformations in Children: From Historical Perspective to a Multidisciplinary Approach in the Modern Era—A Comprehensive Review

FCM Bouwman, BH Verhoeven, WM Klein… - Children, 2024 - mdpi.com
Congenital vascular malformations (CVMs) are the result of an aberrant development during
embryogenesis. Although these lesions are present at birth, they are not always visible yet …

Assessing coagulopathy and endothelial dysfunction in pediatric venous malformation: A thromboelastometry and syndecan‐1 study

F Nava y Hurtado, E Monzon Manzano… - Pediatric Blood & …, 2024 - Wiley Online Library
Objective The occurrence of unpredictable pain crises are the principal determinant of the
quality of life for patients with venous malformations (VM). A definite coagulation …

The Prospective Natural History Study of Patients with Intractable Venous Malformation and Klippel–Trenaunay Syndrome to Guide Designing a Proof-of-Concept …

A Fujino, K Kuniyeda, T Nozaki, M Ozeki… - Lymphatic Research …, 2024 - liebertpub.com
Background: The natural history of venous malformation (VM) and Klippel–Trenaunay
Syndrome (KTS) has not been quantitatively studied. To obtain benchmarks to guide …

Lauromacrogol foam injection under ultrasonic guidance for pediatric lip venous malformations

K Li, Y Jiang, Z Wei, J Chang, L Jinqiao… - Pediatric Surgery …, 2023 - Springer
Objective To evaluate the efficacy and safety of lauromacrogol foam sclerotherapy in the
treatment of children with lip venous malformation. Methods Fifty-two children (27 males and …

Four‐month‐old with severe PIK3CA‐related overgrowth spectrum disorder successfully treated with alpelisb

ML Cossio, J Rodríguez, JC Flores… - Pediatric …, 2024 - Wiley Online Library
PIK3CA‐related overgrowth spectrum (PROS) encompasses different clinical entities
caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome …

Genetics of Vascular Anomalies

M Polubothu, J Oyedepo - Great Ormond Street Handbook of …, 2024 - taylorfrancis.com
Vascular anomalies are caused by early defects in vascular development, secondary to
genetic variants in critical genes in angiogenesis or growth pathways. Typically, they present …