• 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

创伤可诱发遗传性出血性毛细血管扩张症中的毛细血管扩张。

Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia.

作者信息

Geisthoff Urban, Nguyen Ha-Long, Lefering Rolf, Maune Steffen, Thangavelu Kruthika, Droege Freya

机构信息

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Marburg, Philipps-Universität Marburg, Baldingerstrasse, 35043 Marburg, Germany.

Morbus Osler-Selbsthilfe e.V. (German HHT Self-Help Group), 89264 Weissenhorn, Germany.

出版信息

J Clin Med. 2020 May 17;9(5):1507. doi: 10.3390/jcm9051507.

DOI:10.3390/jcm9051507
PMID:32429545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7290907/
Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease of the fibrovascular tissue resulting in visceral vascular malformations and (muco-) cutaneous telangiectases with recurrent bleedings. The mechanism behind the disease is not fully understood; however, observations from HHT mouse models suggest that mechanical trauma may induce the formation of abnormal vessels. To assess the influence of environmental trauma (mechanical or light induced) on the number of telangiectases in patients with HHT, the number of telangiectases on the hands, face, and lips were counted on 103 HHT patients possessing at least three out of four Curaçao criteria. They were then surveyed for information concerning their dominant hand, exposure to sunlight, and types of regular manual work. Patients developed more telangiectases on their dominant hand and lower lip (Wilcoxon rank sum test: < 0.001). Mechanical stress induced by manual work led to an increased number of telangiectases on patients' hands (Mann-Whitney U test: < 0.001). There was also a positive correlation between sun exposure and the number of telangiectases on the lips (Mann-Whitney U test: 0.027). This study shows that mechanical and UV-induced trauma strongly influence the formation of telangiectases in HHT patients. This result has potential implications in preventive measures and on therapeutic approaches for HHT.

摘要

遗传性出血性毛细血管扩张症(HHT)是一种纤维血管组织的常染色体显性疾病,会导致内脏血管畸形以及(黏膜)皮肤毛细血管扩张,并伴有反复出血。该疾病背后的机制尚未完全明确;然而,来自HHT小鼠模型的观察结果表明,机械创伤可能会诱导异常血管的形成。为了评估环境创伤(机械或光诱导)对HHT患者毛细血管扩张数量的影响,对103名符合四项库拉索标准中至少三项的HHT患者手部、面部和嘴唇上的毛细血管扩张数量进行了计数。然后对他们进行调查,了解其优势手、阳光暴露情况以及日常体力劳动类型等信息。患者优势手和下唇出现的毛细血管扩张更多(威尔科克森秩和检验:<0.001)。体力劳动引起的机械应力导致患者手部的毛细血管扩张数量增加(曼-惠特尼U检验:<0.001)。阳光暴露与嘴唇上的毛细血管扩张数量之间也存在正相关(曼-惠特尼U检验:0.027)。这项研究表明,机械和紫外线诱导的创伤对HHT患者毛细血管扩张的形成有强烈影响。这一结果对HHT的预防措施和治疗方法具有潜在意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/a09eb1a22c57/jcm-09-01507-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/339ed6b90849/jcm-09-01507-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/ec10e14b2d49/jcm-09-01507-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/b59c6f6f9099/jcm-09-01507-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/a09eb1a22c57/jcm-09-01507-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/339ed6b90849/jcm-09-01507-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/ec10e14b2d49/jcm-09-01507-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/b59c6f6f9099/jcm-09-01507-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5020/7290907/a09eb1a22c57/jcm-09-01507-g004.jpg

相似文献

1
Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia.创伤可诱发遗传性出血性毛细血管扩张症中的毛细血管扩张。
J Clin Med. 2020 May 17;9(5):1507. doi: 10.3390/jcm9051507.
2
Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.遗传性出血性毛细血管扩张症患儿和青少年的毛细血管扩张症的定位和年龄分布:一项回顾性队列研究。
J Am Acad Dermatol. 2019 Oct;81(4):950-955. doi: 10.1016/j.jaad.2018.11.014. Epub 2019 Feb 25.
3
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.遗传性出血性毛细血管扩张症(HHT)患者鼻出血和毛细血管扩张症的频率与普通人群相比:重新审视库拉索诊断标准。
Genet Med. 2023 Aug;25(8):100865. doi: 10.1016/j.gim.2023.100865. Epub 2023 Apr 28.
4
Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.遗传性出血性毛细血管扩张症:临床表现与诊断方法的最新进展
Wien Klin Wochenschr. 2006 Mar;118(3-4):72-80. doi: 10.1007/s00508-006-0561-x.
5
Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.内皮糖蛋白和 alk1 作为遗传性出血性毛细血管扩张症的治疗靶点。
Expert Opin Ther Targets. 2017 Oct;21(10):933-947. doi: 10.1080/14728222.2017.1365839. Epub 2017 Aug 20.
6
Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.儿童期遗传性出血性毛细血管扩张症:聚焦遗传学与诊断
Pediatr Rep. 2023 Feb 10;15(1):129-142. doi: 10.3390/pediatric15010011.
7
Anti-angiogenic therapeutic strategies in hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症的抗血管生成治疗策略。
Front Genet. 2015 Feb 11;6:35. doi: 10.3389/fgene.2015.00035. eCollection 2015.
8
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.影响内皮糖蛋白近端启动子的突变作为1型遗传性出血性毛细血管扩张症的起源。
BMC Med Genet. 2017 Feb 23;18(1):20. doi: 10.1186/s12881-017-0380-0.
9
[Hereditary hemorragic telangiectasia: the state of art].[遗传性出血性毛细血管扩张症:现状]
Clin Ter. 2007 May-Jun;158(3):253-60.
10
Functional Alterations Involved in Increased Bleeding in Hereditary Hemorrhagic Telangiectasia Mouse Models.遗传性出血性毛细血管扩张症小鼠模型中出血增加所涉及的功能改变
Front Med (Lausanne). 2022 May 19;9:871903. doi: 10.3389/fmed.2022.871903. eCollection 2022.

引用本文的文献

1
The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis.体细胞突变在遗传性出血性毛细血管扩张症发病机制中的作用。
J Clin Med. 2025 Jun 24;14(13):4479. doi: 10.3390/jcm14134479.
2
Hereditary haemorrhagic telangiectasia.遗传性出血性毛细血管扩张症
Nat Rev Dis Primers. 2025 Jan 9;11(1):1. doi: 10.1038/s41572-024-00585-z.
3
Hereditary Hemorrhagic Telangiectasia (Osler's Disease): Systemic, Interdisciplinary, Relatively Common—and Often Missed.遗传性出血性毛细血管扩张症(奥斯勒氏病):全身性、跨学科、相对常见且常被漏诊。

本文引用的文献

1
Biomechanical stress provides a second hit in the establishment of BMP/TGFβ-related vascular disorders.生物力学应激在BMP/TGFβ相关血管疾病的发生过程中起到二次打击的作用。
Cell Stress. 2020 Jan 20;4(2):44-47. doi: 10.15698/cst2020.02.213.
2
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.遗传性出血性毛细血管扩张症血管畸形中的体细胞突变导致 ENG 或 ACVRL1 的双等位基因缺失。
Am J Hum Genet. 2019 Nov 7;105(5):894-906. doi: 10.1016/j.ajhg.2019.09.010. Epub 2019 Oct 17.
3
Laser-Assisted Control of Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Systematic Review.
Dtsch Arztebl Int. 2024 Sep 6;121(18):601-607. doi: 10.3238/arztebl.m2024.0111.
4
How I treat bleeding in hereditary hemorrhagic telangiectasia.我如何治疗遗传性出血性毛细血管扩张症的出血。
Blood. 2024 Aug 29;144(9):940-954. doi: 10.1182/blood.2023021765.
5
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.
6
Generation of a Syngeneic Heterozygous Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis.用于 HHT2 相关血管生成体外研究的同基因杂合性敲除 iPS 细胞系的建立。
Cells. 2023 Jun 10;12(12):1600. doi: 10.3390/cells12121600.
7
A Comparative Study on Adipose-Derived Mesenchymal Stem Cells Secretome Delivery Using Microneedling and Fractional CO Laser for Facial Skin Rejuvenation.使用微针和分次二氧化碳激光递送脂肪间充质干细胞分泌组用于面部皮肤年轻化的比较研究。
Clin Cosmet Investig Dermatol. 2023 Feb 10;16:387-395. doi: 10.2147/CCID.S401839. eCollection 2023.
8
Efficacy and Safety of Tacrolimus as Treatment for Bleeding Caused by Hereditary Hemorrhagic Telangiectasia: An Open-Label, Pilot Study.他克莫司治疗遗传性出血性毛细血管扩张症所致出血的疗效与安全性:一项开放标签的试点研究。
J Clin Med. 2022 Sep 7;11(18):5280. doi: 10.3390/jcm11185280.
9
Skin and mucosal telangiectatic lesions in hereditary hemorrhagic telangiectasia patients.遗传性出血性毛细血管扩张症患者的皮肤和黏膜毛细血管扩张性病变。
Int J Dermatol. 2022 Dec;61(12):1497-1505. doi: 10.1111/ijd.16320. Epub 2022 Jul 6.
10
[Epistaxis-overview and current aspects].[鼻出血——概述与当前情况]
HNO. 2021 Nov;69(11):931-942. doi: 10.1007/s00106-021-01110-4. Epub 2021 Oct 13.
激光辅助控制遗传性出血性毛细血管扩张症鼻出血:系统评价。
Lasers Surg Med. 2020 Apr;52(4):293-300. doi: 10.1002/lsm.23147. Epub 2019 Aug 22.
4
Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy.遗传性出血性毛细血管扩张症的生活:耻辱、应对不可预测的症状和自我倡导。
Psychol Health. 2019 Oct;34(10):1141-1160. doi: 10.1080/08870446.2019.1583341. Epub 2019 Mar 31.
5
Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.遗传性出血性毛细血管扩张症患儿和青少年的毛细血管扩张症的定位和年龄分布:一项回顾性队列研究。
J Am Acad Dermatol. 2019 Oct;81(4):950-955. doi: 10.1016/j.jaad.2018.11.014. Epub 2019 Feb 25.
6
SMAD4 Deficiency Leads to Development of Arteriovenous Malformations in Neonatal and Adult Mice.SMAD4 缺乏导致新生和成年小鼠动静脉畸形的发生。
J Am Heart Assoc. 2018 Nov 6;7(21):e009514. doi: 10.1161/JAHA.118.009514.
7
Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.Smad4 血管缺陷导致动静脉畸形:遗传性出血性毛细血管扩张症的小鼠模型。
Angiogenesis. 2018 May;21(2):363-380. doi: 10.1007/s10456-018-9602-0. Epub 2018 Feb 19.
8
Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.内皮糖蛋白和 alk1 作为遗传性出血性毛细血管扩张症的治疗靶点。
Expert Opin Ther Targets. 2017 Oct;21(10):933-947. doi: 10.1080/14728222.2017.1365839. Epub 2017 Aug 20.
9
Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia.流体剪切应力机械转导缺陷介导遗传性出血性毛细血管扩张症。
J Cell Biol. 2016 Sep 26;214(7):807-16. doi: 10.1083/jcb.201603106. Epub 2016 Sep 19.
10
Infrared and skin: Friend or foe.红外线与皮肤:是友还是敌。
J Photochem Photobiol B. 2016 Feb;155:78-85. doi: 10.1016/j.jphotobiol.2015.12.014. Epub 2015 Dec 21.