遗传性出血性毛细血管扩张症合并幼年性息肉病综合征中的青少年卒中 - Suppr

Suppr

超能文献

Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis.

作者信息

Mazzucco Sara, Benini Luigi, Gallione Carol, D'Adamo Pio, Girelli Domenico

机构信息

Department of Neurological and Movement Sciences, University of Verona, Piazzale LA Scuro 10, 37134, Verona, Italy,

出版信息

Neurol Sci. 2014 Aug;35(8):1315-8. doi: 10.1007/s10072-014-1724-6. Epub 2014 Mar 28.

DOI:10.1007/s10072-014-1724-6

PMID:24676695

Abstract

摘要

相似文献

Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis.遗传性出血性毛细血管扩张症合并幼年性息肉病综合征中的青少年卒中

Neurol Sci. 2014 Aug;35(8):1315-8. doi: 10.1007/s10072-014-1724-6. Epub 2014 Mar 28.

The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.遗传性出血性毛细血管扩张症在青少年息肉综合征中的患病率。

Dis Colon Rectum. 2012 Aug;55(8):886-92. doi: 10.1097/DCR.0b013e31825aad32.

Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.青少年息肉病综合征、SMAD4 突变与遗传性出血性毛细血管扩张症。

J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):120-2. doi: 10.1097/MPG.0b013e3182238514.

[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation].一名患有SMAD4突变患者的青少年息肉病综合征和遗传性出血性毛细血管扩张综合征

Ugeskr Laeger. 2014 Oct 27;176(44).

Hypermanganesemia, hereditary hemorrhagic telangiectasia, brain abscess: the hepatic connection.高锰血症、遗传性出血性毛细血管扩张症、脑脓肿：肝脏的关联。

Neurology. 2008 Sep 30;71(14):1118-9. doi: 10.1212/01.wnl.0000326959.44088.e0.

Case records of the Massachusetts General Hospital. Case 33-2005. A 43-year-old man with lower gastrointestinal bleeding.

N Engl J Med. 2005 Oct 27;353(17):1836-44. doi: 10.1056/NEJMcpc059028.

[A case of combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with SMAD4 mutation].[一例与SMAD4突变相关的青少年息肉病和遗传性出血性毛细血管扩张综合征合并病例]

Nihon Shokakibyo Gakkai Zasshi. 2013 Jan;110(1):64-73.

Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm.伴有SMAD4突变的遗传性出血性毛细血管扩张症与左心室脂肪变性、冠状动脉瘤和腹主动脉瘤相关。

Intern Med. 2019 Feb 1;58(3):387-393. doi: 10.2169/internalmedicine.1287-18. Epub 2018 Sep 12.

Endoscopic resection of a large duodenal hamartoma related to SMAD4-associated juvenile polyposis/hereditary hemorrhagic teleangiectasia syndrome.内镜下切除与SMAD4相关的幼年性息肉病/遗传性出血性毛细血管扩张综合征相关的十二指肠大错构瘤。

Am J Gastroenterol. 2011 Nov;106(11):2047-8. doi: 10.1038/ajg.2011.240.

Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports.遗传性出血性毛细血管扩张症患者的中风。肺血管畸形重复筛查和早期治疗的新证据：两例报告。

BMC Neurol. 2011 Jul 9;11:84. doi: 10.1186/1471-2377-11-84.

引用本文的文献

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.儿童及成人幼年性息肉病综合征诊断与管理临床指南——二次发布

J Anus Rectum Colon. 2023 Apr 25;7(2):115-125. doi: 10.23922/jarc.2023-002. eCollection 2023.

本文引用的文献

Screening for right-to-left shunts with contrast transcranial Doppler in hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症患者经颅多普勒超声造影右向左分流筛查。

Stroke. 2011 May;42(5):1473-4. doi: 10.1161/STROKEAHA.110.608224. Epub 2011 Mar 24.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.SMAD4 突变在幼年性息肉病（JP）和 JP-HHT 综合征中的重叠谱。

Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.国际遗传性出血性毛细血管扩张症诊断和管理指南。

J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23.

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.遗传性出血性毛细血管扩张症：临床与科学综述

Eur J Hum Genet. 2009 Jul;17(7):860-71. doi: 10.1038/ejhg.2009.35. Epub 2009 Apr 1.

Paradoxical brain embolism in a young man with isolated pulmonary arteriovenous fistula.一名患有孤立性肺动静脉瘘的年轻男性发生反常脑栓塞。

Neurol Sci. 2008 Jun;29(3):169-71. doi: 10.1007/s10072-008-0930-5. Epub 2008 Jul 9.

A pulmonary right-to-left shunt in patients with hereditary hemorrhagic telangiectasia is associated with an increased prevalence of migraine.遗传性出血性毛细血管扩张症患者的肺右向左分流与偏头痛患病率增加有关。

Chest. 2005 Oct;128(4):2485-9. doi: 10.1378/chest.128.4.2485.

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).一种与MADH4（SMAD4）突变相关的青少年息肉病和遗传性出血性毛细血管扩张联合综合征。

Lancet. 2004 Mar 13;363(9412):852-9. doi: 10.1016/S0140-6736(04)15732-2.

Contrast echocardiography remains positive after treatment of pulmonary arteriovenous malformations.肺动静脉畸形治疗后，对比超声心动图检查结果仍为阳性。

Chest. 2003 Feb;123(2):351-8. doi: 10.1378/chest.123.2.351.

Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia.321例遗传性出血性毛细血管扩张症的脑血管表现

Stroke. 2001 Apr;32(4):877-82. doi: 10.1161/01.str.32.4.877.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验