5 documents found, page 1 of 1
Genotype-phenotype correlation in a cohort of Portuguese patients comprising th...
Fidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, EThe diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this li...
Familial thrombotic risk based on the genetic background of Protein C Deficienc...
Fidalgo, T; Martinho, P; Salvado, R; Manco, L; Oliveira, AC; Pinto, CS; Gonçalves, E; Marques, D; Sevivas, T; Martins, N; Ribeiro, MLINTRODUCTION: Inherited protein C (PC) deficiency is a well-known risk factor for venous thrombosis (VT). Plasma PC levels are reliable in moderate to severe deficiencies; however, in mildly deficient individuals, the levels may overlap with those considered normal. Genetic studies of PROC, which encodes PC, could help identify carriers; genome-wide association studies (GWAS) have shown that approximately 50% o...
Functional and molecular characterization of inherited platelet disorders in th...
Sánchez-Guiu, I; Antón, AI; Padilla, J; Velasco, F; Lucia, JF; Lozano, Ml; Cid, AR; Sevivas, T; Lopez-Fernandez, MF; Vicente, V; González-Manchón, CBACKGROUND: The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to evaluate the spectrum of IPDs in individuals with clinical suspicion of these disorders, and to provide a diagnostic tool to centers not having access to specific platelets studies, we established the projec...
JAK2V617F allele burden is associated with thrombotic mechanisms activation in ...
Coucelo, M; Caetano, G; Sevivas, T; Almeida Santos, S; Fidalgo, T; Bento, C; Fortuna, M; Duarte, M; Menezes, C; Ribeiro, MLThe clinical courses of polycythemia vera (PV) and essential thrombocythemia (ET) are characterized by thrombohemorrhagic diathesis. Several groups have suggested an association between JAK2V617F mutation and thrombosis. We hypothesized a relationship between JAK2V617F allele burden, cellular activation parameters, and thrombosis. We evaluated a group of PV and ET patients using flow cytometry: platelet CD62P, ...
Severe intracranial haemorrhage in neonatal alloimmune thrombocytopenia
Silva, F; Morais, S; Sevivas, T; Veiga, R; Salvado, R; Taborda, ANeonatal alloimmune thrombocytopenia is a rare (1/1000-5000 births) life-threatening disorder, caused by fetomaternal incompatibility for a fetal human platelet alloantigen inherited from the father, with production of maternal alloantibodies against fetal platelets, leading to severe thrombocytopenia and potential bleeding. Intracranial haemorrhage is the most feared complication. This report presents the case...