Initial Experience of a Hereditary Hemorrhagic Telangiectasia Center of Excellence

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Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience.

OBJECTIVE To assess the clinical and genetic characteristics of symptomatic children with hereditary hemorrhagic telangiectasia (HHT). DESIGN Cross-sectional study. SETTING The HHT clinics in Toronto. PARTICIPANTS All children with symptomatic HHT treated from April 1, 1996, through December 31, 2002. INTERVENTIONS Participants were screened for visceral arteriovenous malformations (AVM...

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Hereditary Hemorrhagic Telangiectasia Management.

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. The management of HHT can in...

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A case of hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and n...

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Endoglin (CD105), an accessory protein of the TGF-beta receptor superfamily, is highly expressed on endothelial cells. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the Endoglin gene, leading to haploinsufficiency. To generate a disease model and ascertain the role of endoglin in development, we generated mice lacking 1 or both copies of the gene. Endoglin ...

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ژورنال

عنوان ژورنال: Ear, Nose & Throat Journal

سال: 2017

ISSN: 0145-5613,1942-7522

DOI: 10.1177/014556131709600607