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Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.遗传性出血性毛细血管扩张症动静脉畸形中的体细胞突变支持发病机制的双等位基因两次打击突变机制。
Am J Hum Genet. 2024 Oct 3;111(10):2283-2298. doi: 10.1016/j.ajhg.2024.08.020. Epub 2024 Sep 18.
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Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances.遗传性出血性毛细血管扩张症:从信号通路研究到治疗进展。
J Clin Invest. 2024 Feb 15;134(4):e176379. doi: 10.1172/JCI176379.
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The Role and Therapeutic Implications of Inflammation in the Pathogenesis of Brain Arteriovenous Malformations.炎症在脑动静脉畸形发病机制中的作用及治疗意义
Biomedicines. 2023 Oct 24;11(11):2876. doi: 10.3390/biomedicines11112876.
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Multiple De Novo Cerebral Arteriovenous Malformations in a Patient with Alcoholic Liver Cirrhosis.一名酒精性肝硬化患者出现多处新发脑动静脉畸形
J Belg Soc Radiol. 2022 May 27;106(1):53. doi: 10.5334/jbsr.2822. eCollection 2022.
5
Cerebral neurovascular embryology, anatomic variations, and congenital brain arteriovenous lesions.脑神经血管胚胎学、解剖变异与先天性脑动静脉病变。
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KRAS/BRAF mutations in brain arteriovenous malformations: A systematic review and meta-analysis.脑动静脉畸形中 KRAS/BRAF 突变:系统评价和荟萃分析。
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酒精性肝硬化中的新发脑动静脉畸形

De Novo brain arteriovenous malformations in alcohol-related cirrhosis.

作者信息

Yakubu Amin, Patel Neil V, Orru Emanuele, Pace Jonathan, Krings Timo

机构信息

Division of Neurology, Lahey Hospital & Medical Center - Beth Israel Lahey Health, Tufts University Medical School, Boston, MA, USA.

Division of Neurointerventional Radiology, Lahey Hospital & Medical Center - Beth Israel Lahey Health, UMass Chan Medical School, Boston, MA, USA.

出版信息

Interv Neuroradiol. 2025 Jun 10:15910199251342424. doi: 10.1177/15910199251342424.

DOI:10.1177/15910199251342424
PMID:40491283
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12151994/
Abstract

We report the case of a 38-year-old female with alcohol-related cirrhosis who developed a de novo left hemispheric sylvian fissure pial arteriovenous malformation (AVM) causing recurrent hemorrhages, ultimately necessitating neurosurgical intervention. The case underscores the interplay between chronic systemic disease and vascular abnormalities. We explore the theory of de novo brain AVM (bAVM) formation in the context of liver cirrhosis, chronic inflammation and pro-angiogenic conditions thus shedding a light on the potential underlying pathological mechanisms of bAVM formation. This case also highlights the challenges of managing concurrent neurovascular and systemic conditions.

摘要

我们报告了一例38岁患有酒精性肝硬化的女性病例,该患者新发左半球外侧裂软膜动静脉畸形(AVM),导致反复出血,最终需要神经外科干预。该病例强调了慢性全身性疾病与血管异常之间的相互作用。我们在肝硬化、慢性炎症和促血管生成条件的背景下探讨了新发脑动静脉畸形(bAVM)形成的理论,从而揭示了bAVM形成潜在的病理机制。该病例还凸显了同时管理神经血管和全身性疾病的挑战。