Publications by authors named "A R Bisdorff"
Rationale: Sirolimus is a treatment for slow-flow vascular malformations (SFVMs). However, the long-term management remains challenging.
Objectives: The SIROLO study assessed the long-term effects and real-life management of oral sirolimus for SFVMs by investigating data from 15 French tertiary centres for vascular anomalies.
Article Synopsis
- Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare congenital condition characterized by vascular malformations in the skin and gastrointestinal tract, but it lacks extensive research and descriptive data.
- A multicenter study in Europe analyzed 44 BRBNS patients, revealing that the syndrome is typically diagnosed around age 12, primarily through clinical symptoms, with a significant number also experiencing gastrointestinal complications.
- The study suggests that tests for d-dimer, fibrinogen levels, and Tie2/TEK mutations should be conducted when BRBNS is suspected, as they could aid in confirming the diagnosis.
gain-of-function mutations are frequently observed in sporadic arteriovenous malformations. The mechanisms underlying the progression of such -driven malformations are still incompletely understood, and no treatments for the condition are approved. Here, we show the effectiveness of sotorasib, a specific KRAS G12C inhibitor, in reducing the volume of vascular malformations and improving survival in two mouse models carrying a mosaic G12C mutation.
View Article and Find Full Text PDFCentral nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available.
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