Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings [0.03%]
皮肤遗传检测可诊断具有矛盾影像学、病理学和临床发现的疣状静脉畸形患者
Allison Britt,Amber Bolli,James Treat et al.
Allison Britt et al.
Verrucous venous malformation (VVM) is frequently misdiagnosed. This individual demonstrates the value of genetic testing to inform correct diagnosis. Consent was provided for retrospective chart review and publication. At birth, the affect...
R183Q GNAQ Sturge-Weber syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model [0.03%]
R183Q GNAQ-Sturge-Weber综合征脑膜和脑血管发育小鼠模型
C R Solomon,M McCann,P Singh et al.
C R Solomon et al.
Objectives: Sturge-Weber syndrome (SWS), a rare neurovascular malformation disorder, is usually caused by the R183Q GNAQ somatic mosaic mutation enriched in brain endothelial cells. A developmental mouse model of SWS brai...
MAP2K1 Mutation in Zebrafish Endothelial Cells Causes Arteriovenous Shunts Preventable by MEK Inhibition [0.03%]
斑马鱼内皮细胞中的MAP2K1突变导致动脉静脉瘘，可被MEK抑制剂预防
Christopher L Sudduth,Nicola Blum,Patrick J Smits et al.
Christopher L Sudduth et al.
Objectives: Arteriovenous malformation (AVM) is a congenital lesion with a nidus of irregular blood vessels connecting arteries to veins instead of a normal capillary bed. Somatic MAP2K1 activating mutations in endothelia...
Updated Classification of Vascular Anomalies. A living document from the International Society for the Study of Vascular Anomalies Classification Group [0.03%]
血管畸形的最新分类。国际血管畸形研究学会分类工作组的动态文件
Dov Charles Goldenberg,Miikka Vikkula,Anthony Penington et al.
Dov Charles Goldenberg et al.
Introduction: The International Society for the Study of Vascular Anomalies developed in 1996 a Classification of Vascular Anomalies that became internationally accepted. The main feature was the division of vascular anom...
Once a day administration of R(+) propranolol is sufficient to block vasculogenesis in a xenograft model of infantile hemangioma [0.03%]
每日一次给予R（+）普萘洛尔可以阻断异种移植模型婴儿血管瘤的内皮细胞发育过程中的血管生成阶段
Annegret Holm,Jerry Wei Heng Tan,Luke Borgelt et al.
Annegret Holm et al.
Objectives: Infantile hemangioma (IH) is a benign vascular tumor that occurs in 5% of infants, predominantly in female and preterm neonates. Propranolol is the mainstay of treatment for IH. Given the short half-life of pr...
Kathleen Cullion,Claire A Ostertag-Hill,Weimin Tang et al.
Kathleen Cullion et al.
Objective: The current treatment of venous malformations (VMs) consists of medications with systemic toxicity and procedural interventions with high technical difficulty and risk of hemorrhage. Using nanoparticles (NPs) t...
Trametinib inhibits lymphatic vessel invasion of bone in a mouse model of Gorham-Stout disease [0.03%]
トラメチニブによるゴルーム・スチュート病マウスモデルにおける骨内静脈奇形性リンパ管侵襲の抑制
Anna L McCarter,Michael T Dellinger
Anna L McCarter
Objective: Gorham-Stout disease (GSD) is a rare lymphatic anomaly that can be caused by somatic activating mutations in KRAS. This discovery has led investigators to suggest that MEK inhibitors could be a novel treatment ...
Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions [0.03%]
慢血流血管畸形的病理生理：目前的认识和未解之谜
Averill Clapp,Carrie J Shawber,June K Wu
Averill Clapp
Background: Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signalin...
The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations [0.03%]
VASCERN-VASCA工作组静脉畸形的诊断和管理路径
Anne Dompmartin,Eulalia Baselga,Laurence M Boon et al.
Anne Dompmartin et al.
To elaborate expert consensus patient pathways to guide patients and physicians toward efficient diagnostics and management of patients with venous malformations. Methods: ...
Clinical Response to PI3K-α Inhibition in a Cohort of Children and Adults With PIK3CA-Related Overgrowth Spectrum Disorders [0.03%]
PIK3CA相关过度生长谱系障碍患儿及成人对PI3K-α抑制的临床反应
Prashant Raghavendran,Sharon E Albers,James D Phillips et al.
Prashant Raghavendran et al.
Objective: The goal of this report is to describe, through a series of 5 cases, the clinical response and safety of alpelisib (BYL719) use in children and adults with PIK3CA-related overgrowth spectrum (PROS) disorders at...