Federica Ornati

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Purpose:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. Three causative genes are known: ENG (HHT-1), ACVRL1 (HHT-2), and SMAD4 (mutated in HHT in association with juvenile polyposis). Gastrointestinal bleeding is the most common symptom after epistaxis.(More)
BACKGROUND Hereditary haemorrhagic telangiectasia is a genetic disease that leads to multiregional angiodysplasia. Severe recurrent epistaxis is the most common presentation, frequently leading to severe anaemia. Several therapeutic approaches have been investigated, but they are mostly palliative and have had variable results. We aimed to assess the(More)
Activin A receptor, type II-like kinase 1 (also called ALK1), is a serine-threonine kinase predominantly expressed on endothelial cells surface. Mutations in its ACVRL1 encoding gene (12q11-14) cause type 2 Hereditary Haemorrhagic Telangiectasia (HHT2), an autosomal dominant multisystem vascular dysplasia. The study of the structural effects of mutations is(More)
CONCLUSIONS In contrast to the current trend according to which the treatment of hereditary hemorrhagic telangiectasia (HHT) epistaxis depends on clinical severity, argon plasma coagulation (APC) has also proven to be effective as a first-line procedure in patients with severe nosebleeds. Furthermore, with this approach patients are free from requirements(More)
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular malformations. The genes known to be associated with HHT include ENG (HHT1), ACVRL1 (HHT2) and SMAD4 (JPHT). It has been reported that circulating CD34(+) cell subsets repair damaged vessels. To investigate whether mobilization of these cells is present(More)
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases, and 10% are large deletions and duplications. Here we present a large novel deletion in ACVRL1 gene and its molecular characterization in a 3 generation Italian family. We employed short tandem repeats(More)
Familiar aggregation of breast cancer has been known since Roman times, but it has been discussed in practical terms only from the 19th century. Most of the studies dealing with this issue suggest that the risk is higher in relatives of patients with early onset and that the risk also increases as a function of the bilaterality of the disease or the(More)
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