共 73 条
Executive summary of the 11th HHT international scientific conference
被引:18
作者:

Arthur, Helen
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机构:
Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Geisthoff, Urban
论文数: 0 引用数: 0
h-index: 0
机构:
Essen Univ Hosp, Dept Otorhinolaryngol, Essen, Germany Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Gossage, James R.
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机构:
Georgia Regents Univ, Dept Med, Augusta, GA 30912 USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Hughes, Christopher C. W.
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机构:
Univ Calif Irvine, Dept Mol Biol & Biochem, Irvine, CA 92717 USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Lacombe, Pascal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Versailles, Hop Ambroise Pare, AP HP, Dept Diagnost & Intervent Radiol, Boulogne, France Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Meek, Mary E.
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机构:
Univ Arkansas Med Sci, Dept Intervent Radiol, Little Rock, AR 72205 USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Oh, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Roman, Beth L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA
Univ Pittsburgh, Vasc Med Inst, Pittsburgh, PA USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Trerotola, Scott O.
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h-index: 0
机构:
Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Velthuis, Sebastiaan
论文数: 0 引用数: 0
h-index: 0
机构:
St Antonius Hosp, Dept Cardiol, Nieuwegein, Netherlands Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Wooderchak-Donahue, Whitney
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, ARUP Inst Clin & Expt Pathol, Dept Pathol, Salt Lake City, UT USA Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
机构:
[1] Newcastle Univ, Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[2] Essen Univ Hosp, Dept Otorhinolaryngol, Essen, Germany
[3] Georgia Regents Univ, Dept Med, Augusta, GA 30912 USA
[4] Univ Calif Irvine, Dept Mol Biol & Biochem, Irvine, CA 92717 USA
[5] Univ Versailles, Hop Ambroise Pare, AP HP, Dept Diagnost & Intervent Radiol, Boulogne, France
[6] Univ Arkansas Med Sci, Dept Intervent Radiol, Little Rock, AR 72205 USA
[7] Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL USA
[8] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA
[9] Univ Pittsburgh, Vasc Med Inst, Pittsburgh, PA USA
[10] Univ Penn, Dept Radiol, Perelman Sch Med, Philadelphia, PA 19104 USA
[11] St Antonius Hosp, Dept Cardiol, Nieuwegein, Netherlands
[12] Univ Utah, ARUP Inst Clin & Expt Pathol, Dept Pathol, Salt Lake City, UT USA
关键词:
HHT;
Hereditary hemorrhagic telangiectasia;
Endoglin;
ALK1;
Arteriovenous malformation;
Epistaxis;
HEREDITARY HEMORRHAGIC TELANGIECTASIA;
PULMONARY ARTERIOVENOUS-MALFORMATIONS;
GENOTYPE-PHENOTYPE RELATIONSHIP;
CONTROLLED CLINICAL-TRIAL;
RECEPTOR-LIKE KINASE-1;
DOUBLE-BLIND;
CONTRAST ECHOCARDIOGRAPHY;
VASCULAR MALFORMATIONS;
TRANEXAMIC ACID;
EPISTAXIS;
D O I:
10.1007/s10456-015-9482-5
中图分类号:
R6 [外科学];
学科分类号:
1002 ;
100210 ;
摘要:
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary condition that results in vascular malformations throughout the body, which have a proclivity to rupture and bleed. HHT has a worldwide incidence of about 1:5000 and approximately 80 % of cases are due to mutations in ENG, ALK1 (aka activin receptor-like kinase 1 or ACVRL1) and SMAD4. Over 200 international clinicians and scientists met at Captiva Island, Florida from June 11-June 14, 2015 to present and discuss the latest research on HHT. 156 abstracts were accepted to the meeting and 60 were selected for oral presentations. The first two sections of this article present summaries of the basic science and clinical talks. Here we have summarized talks covering key themes, focusing on areas of agreement, disagreement, and unanswered questions. The final four sections summarize discussions in the Workshops, which were theme-based topical discussions led by two moderators. We hope this overview will educate as well as inspire those within the field and from outside, who have an interest in the science and treatment of HHT.
引用
收藏
页码:511 / 524
页数:14
相关论文
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h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Barohn, Richard
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Univ Kansas, Med Ctr, Lawrence, KS 66045 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Campbell, Craig
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Univ Western Ontario, London, ON, Canada Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Comi, Giacomo P.
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Univ Milan, Dino Ferrari Ctr, Dept Neurol Sci, IRCCS Fdn Ca Granda,Osped Maggiore Policlin, Milan, Italy Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Connolly, Anne M.
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Washington Univ, Sch Med, St Louis, MO USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Day, John W.
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Univ Minnesota, Minneapolis, MN USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Flanigan, Kevin M.
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h-index: 0
机构:
Nationwide Childrens Hosp, Columbus, OH USA
Ohio State Univ, Columbus, OH 43210 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Goemans, Nathalie
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Univ Hosp Leuven, Leuven, Belgium Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Jones, Kristi J.
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机构:
Sydney Childrens Hosp Network, Dept Clin Genet, Sydney, NSW, Australia
Univ Sydney, Discipline Genet, Fac Med, Sydney, NSW 2006, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Fac Med, Sydney, NSW 2006, Australia Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Mercuri, Eugenio
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Univ Cattolica Sacro Cuore, Polilcin Gemelli, Pediat Neurol Unit, Rome, Italy Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Quinlivan, Ros
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Inst Neurol, London WC1N 3BG, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Renfroe, James B.
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Northwest Florida Clin Res Grp, Gulf Breeze, FL USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

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Ryan, Monique M.
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Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
Univ Melbourne, Parkville, Vic 3052, Australia Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Tulinius, Mar
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Univ Gothenburg, Dept Pediat, Gothenburg, Sweden Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Voit, Thomas
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h-index: 0
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Univ Paris 06, CNRS, INSERM, UM76,U974,UMR 7215,Inst Myol, Paris, France Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Moore, Steven A.
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Univ Iowa, Iowa City, IA 52242 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Sweeney, H. Lee
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h-index: 0
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Univ Penn, Philadelphia, PA 19104 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Abresch, Richard T.
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h-index: 0
机构:
UC Davis Childrens Hosp, Lawrence J Ellison Ambulatory Care Ctr, Sacramento, CA 95817 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Coleman, Kim L.
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h-index: 0
机构:
OrthoCare Innovat, Mountlake Terrace, WA USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Eagle, Michelle
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Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Florence, Julaine
论文数: 0 引用数: 0
h-index: 0
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Washington Univ, Sch Med, St Louis, MO USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Gappmaier, Eduard
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h-index: 0
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Univ Utah, Sch Med, Salt Lake City, UT USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Glanzman, Allan M.
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h-index: 0
机构:
Childrens Hosp Philadelphia, Philadelphia, PA USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Henricson, Erik
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h-index: 0
机构:
UC Davis Childrens Hosp, Lawrence J Ellison Ambulatory Care Ctr, Sacramento, CA 95817 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Barth, Jay
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h-index: 0
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PTC Therapeut, South Plainfield, NJ USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Elfring, Gary L.
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PTC Therapeut, South Plainfield, NJ USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Reha, Allen
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h-index: 0
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PTC Therapeut, South Plainfield, NJ USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Spiegel, Robert J.
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PTC Therapeut, South Plainfield, NJ USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

O'Donnell, Michael W.
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PTC Therapeut, South Plainfield, NJ USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

Peltz, Stuart W.
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PTC Therapeut, South Plainfield, NJ USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

McDonald, Craig M.
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UC Davis Childrens Hosp, Lawrence J Ellison Ambulatory Care Ctr, Sacramento, CA 95817 USA Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England