Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core +1 more source
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Abdalla, S A +16 more
core +2 more sources
The roles of endoglin gene in cerebrovascular diseases. [PDF]
Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis.
Ma, Li, Su, Hua, Zhang, Rui, Zhu, Wan
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CT and MRI imaging and interpretation of hepatic arterioportal shunts [PDF]
Hepatic arterioportal shunts (HAPS) occur due to organic or functional fistulization of blood flow between arterial hepatic vasculature and venous portal systems.
Akisik, Fatih +7 more
core +1 more source
Hereditary hemorrhagic telangiectasia
A 45-year-old man with hereditary hemorrhagic telangiectasia (HHT) presented with numerous mucocutaneous telangiectases, recurrent nosebleeds, and several first degree relatives with similar symptoms. HHT has been linked to mutations in the genes endoglin and activin receptor-like kinase-1 (ALK-1), which are located on chromosome 9q33-34 and 12q13 ...
Alfonso, Pérez del Molino +2 more
openaire +6 more sources
Telangiectasia hemorrágica hereditária é uma doença autossômica dominante na qual comunicações arteriovenosas afetam comumente pele, superfícies mucosas, pulmões, cérebro e trato gastrointestinal.
José Wellington Alves dos Santos +5 more
doaj +1 more source
Bevacizumab is now an emerging treatment option for severe hereditary hemorrhagic telangiectasia–related bleeding including epistaxis and gastrointestinal tract bleeding.
Hasan Ahmad Albitar, MD +3 more
doaj +1 more source
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1 [PDF]
[Background] Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial ...
Albiñana, Virginia +7 more
core +3 more sources
Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia [PDF]
Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signalling ...
Begbie, ME +6 more
core +1 more source
Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls. [PDF]
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is inherited as an autosomal dominant trait, affects ~1 in 5,000, and causes multi-systemic vascular lesions and life-limiting complications.
Devlin, HL +3 more
core +1 more source

