• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Managing Vascular Anomalies in the Era of Genetics and Precision Medicine: An Opportunity or a Challenge?

作者信息

Gu Hao, Liu Hongyuan, Cai Ren, Chen Hui, Lin Xiaoxi

机构信息

From the Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital School of Medicine.

Bio-X Institute, Shanghai Jiao Tong University, Shanghai, People's Republic of China.

出版信息

Ann Plast Surg. 2021 Mar 1;86(3S Suppl 2):S269-S272. doi: 10.1097/SAP.0000000000002723.

DOI:10.1097/SAP.0000000000002723
PMID:33470620
Abstract

The era of genetics and precision medicine has been reforming this world. How will plastic surgeons in the field of vascular anomalies conform to the trend? This article systematically reviews the identification of serum biomarkers, risk factors, specific mutations in the angiogenesis-related genes such as GNAQ, RASA1, TEK, and their impact on the diagnosis and treatment of vascular anomalies with preliminary results that have been previously reported and leading the tide. Moreover, a new disease classification for complex vascular malformations based on PIK3CA genetic evidence and various treatment breakthroughs is briefly summarized. With gene sequencing, bioinformatics, and big data, we confront the challenges of research in the vascular anomalies domain and explore possibilities of precision medicine development.

摘要

相似文献

1
Managing Vascular Anomalies in the Era of Genetics and Precision Medicine: An Opportunity or a Challenge?
Ann Plast Surg. 2021 Mar 1;86(3S Suppl 2):S269-S272. doi: 10.1097/SAP.0000000000002723.
2
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.PIK3CA 相关过度生长谱和重叠病症中的基因型和表型异质性:150 例新患者和 1007 例 PIK3CA 致病性变异患者的系统回顾
J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7.
3
The genetics of vascular birthmarks.血管性胎记的遗传学。
Clin Dermatol. 2022 Jul-Aug;40(4):313-321. doi: 10.1016/j.clindermatol.2022.02.006. Epub 2022 Feb 16.
4
Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis.因RASA1基因突变导致的多灶性毛细血管畸形被误诊为皮肤肥大细胞增多症。
Arch Dermatol. 2012 Nov;148(11):1334-5. doi: 10.1001/archdermatol.2012.2835.
5
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.全面的分子和临床病理分析血管畸形:319 例研究。
Genes Chromosomes Cancer. 2019 Aug;58(8):541-550. doi: 10.1002/gcc.22739. Epub 2019 Feb 11.
6
Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.一名患有新型RASA1突变的大龄无症状儿童的多灶性毛细血管畸形。
Clin Exp Dermatol. 2016 Mar;41(2):156-8. doi: 10.1111/ced.12696. Epub 2015 Jun 30.
7
Vascular anomalies of the head and neck: a review of genetics.头颈部血管异常:遗传学综述
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):257-66. doi: 10.3109/08820538.2013.825279. Epub 2013 Sep 6.
8
Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.儿科脑血管畸形中的种系基因突变:筛查、检测和管理的多学科方法。
J Neurosurg Pediatr. 2022 Dec 23;31(3):212-220. doi: 10.3171/2022.11.PEDS22392. Print 2023 Mar 1.
9
A precision medicine approach to hereditary hemorrhagic telangiectasia and complex vascular anomalies.遗传性出血性毛细血管扩张症和复杂血管畸形的精准医学方法。
J Thromb Haemost. 2022 May;20(5):1077-1088. doi: 10.1111/jth.15715. Epub 2022 Apr 7.
10
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.通过下一代测序技术发现孟德尔血管异常患者的变异,并将其用于患者的临床管理。
J Vasc Surg. 2018 Mar;67(3):922-932.e11. doi: 10.1016/j.jvs.2017.02.034. Epub 2017 Jun 24.

引用本文的文献

1
Case Report: Combination of sirolimus and endoscopic lauromacrogol sclerotherapy in the management of blue rubber bleb nevus syndrome with gastric tract bleeding.病例报告:西罗莫司与内镜下聚桂醇硬化治疗联合用于治疗伴有胃肠道出血的蓝色橡皮疱痣综合征
Front Pediatr. 2025 Jan 10;12:1488466. doi: 10.3389/fped.2024.1488466. eCollection 2024.