Executive summary of the 12th HHT international scientific conference

被引:9
|
作者
Andrejecsk, Jillian W. [1 ]
Hosman, Anna E. [2 ]
Botella, Luisa M. [3 ,4 ]
Shovlin, Claire L. [5 ]
Arthur, Helen M. [6 ]
Dupuis-Girod, Sophie [7 ,8 ,9 ,10 ]
Buscarini, Elisabetta [11 ]
Hughes, Christopher C. W. [1 ]
Lebrin, Franck [12 ,13 ]
Mummery, Christine L. [14 ]
Post, Marco C. [15 ]
Mager, Johannes J. [2 ]
机构
[1] Univ Calif Irvine, Dept Mol Biol & Biochem, Irvine, CA 92717 USA
[2] St Antonius Hosp, Dept Pulmonol, Koekoekslaan 1, NL-3435 CM Nieuwegein, Netherlands
[3] CSIC, Ctr Invest Biol, Ramiro de Maeztu 9, Madrid 28040, Spain
[4] CIBERER, Ramiro de Maeztu 9, Madrid 28040, Spain
[5] Imperial Coll London, Natl Heart & Lung Inst, Vasc Sci, London, England
[6] Newcastle Univ, Inst Med Genet, Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
[7] Hosp Civils Lyon, Genet Unit, Bron, France
[8] HHT Reference Ctr, Bron, France
[9] Sch Med, Lyon, France
[10] Univ Lyon 1, Lyon, France
[11] Maggiore Hosp, ASST Crema, Reference Ctr Hereditary Hemorrhag Telangiectasia, Gastroenterol & Endoscopy Dept, Crema, Italy
[12] Leiden Univ, Med Ctr, Dept Internal Med Nephrol, Einthoven Lab Expt Vasc Med, Leiden, Netherlands
[13] ESPCI, Inst Langevin, INSERM U979, CNRS UMR 7587, Paris, France
[14] Leiden Univ, Dept Anat & Embryol, Med Ctr, Leiden, Netherlands
[15] St Antonius Hosp, Dept Cardiol, Koekoekslaan 1, NL-3435 CM Nieuwegein, Netherlands
关键词
HHT; Hereditary hemorrhagic telangiectasia; Endoglin; Activin receptor-like kinase 1 (ALK1); Arteriovenous malformation; Epistaxis; HEREDITARY HEMORRHAGIC TELANGIECTASIA; PULMONARY ARTERIOVENOUS-MALFORMATIONS; RANDOMIZED CLINICAL-TRIAL; VASCULAR MALFORMATIONS; ENDOGLIN; EXPRESSION; EPISTAXIS; BEVACIZUMAB; PHENOTYPE; SEVERITY;
D O I
10.1007/s10456-017-9585-2
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations. This article covers the basic science and clinical talks, and discussions from three theme-based workshops. We focus on significant emergent themes and unanswered questions. Understanding these topics and answering these questions will help to define the future of HHT research and therapeutics, and ultimately bring us closer to a cure.
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页码:169 / 181
页数:13
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