26 documents found, page 1 of 3
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, ElsaThe 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...
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...
Relevância da Infecção VHC em Coagulopatias Congénitas
Caiado, A; Antunes, M; Santos, AL; Esteves, J; Diniz, MJ; Costa, MN; Silva, MJIntrodução: A infecção pelo vírus da hepatite C (VHC) em doentes com coagulopatias congénitas (CC), como consequência da terapêutica empregue entre os anos 70 e 80 com transfusão de derivados de plasma humano, constitui um problema de saúde substancial e relevante. Objectivos: Análise e avaliação da relevância representada pela infecção VHC e suas complicações no tratamento duma população de doentes com CC. Mét...
Prophylaxis in Hemophilia A Patients with Inhibitors
Antunes, M; Santos, A; Diniz, MJThe development of antibodies to factor VIII is one of the most serious complications of haemophilia treatment. Approximately 30% of patients with severe haemophilia develop neutralizing inhibitors to replacement FVIII. Although most patients with inhibitors do not bleed more frequently than patients without inhibitors, bleeding is more difficult to control and this patients suffer more severe bleeding and have...
HCV Infection in Patients with Hereditary Bleeding Disorders
Caiado, A; Antunes, M; Santos, AL; Esteves, J; Diniz, MJIntroduction: Hepatitis C virus (HCV) infection in patients with hereditary bleeding disorders (HBDs), as a consequence of treatment with transfusion of human bloodderived components between the late 1970s and 1980s, represents a major health concern. Objectives: Assessment and evaluation of the burden of HCV infection, its complications, and treatment in a population of patients with HBDs. Methods: Analysis of...
Cost of Immune Tolerance Induction in Hemophilia A Patients: Results from the I...
Fusco, F; Gringeri, A; Scalone, L; Mantovani, L; Rocino, A; Altisent, C; Astermark, J; Diniz, MJ; Fijnvandraat, K; Klamroth, R; Lambert, T
Surgery in Hemophilia. A General View Over a 4-Year Centre Experience
Santos, A; Diniz, MJ; Antunes, M
Cirurgia e Hemofilia com Inibidor: 4 Casos Clínicos
Santos, A; Diniz, MJ; Antunes, M
Prophylaxis in Haemophilia and other Inherited Bleeding Disorders
Diniz, MJ
Non-Genetic Risk Factors and the Development of Inhibitors in Haemophilia: a Co...
Astermark, J; Altisent, C; Batorova, A; Diniz, MJ; Gringeri, A; Holme, PA; Karafoulidou, A; Lopez-Fernández, MF; Reipert, BM; Rocino, A; Schiavoni, MThe development of inhibitors to the infused factor in patients with haemophilia is a serious clinical problem. Recent evidence suggests that alongside the strong genetic contribution to inhibitor formation, there are a number of non-genetic factors--perceived by the immune system as danger signals--which promote formation of inhibitors. This study provides a comprehensive review of clinical studies relating to...