7 documents found, page 1 of 1
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic ...
Fidalgo, T; Martinho, P; Pinto, CS; Oliveira, AC; Salvado, R; Borràs, N; Coucelo, M; Manco, L; Maia, T; Mendes, MJ; Del Orbe Barreto, R; Corrales, IBACKGROUND: The 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. OBJECTIVES AND METHODS: We aimed to develop a TMA diagnosi...
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvat...
Garate, Z; Quintana-Bustamante, O; Crane, AM; Olivier, E; Poirot, L; Galetto, R; Kosinski, P; Hill, C; Kung, C; Agirre, X; Orman, I; Cerrato, LPyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. Erythrocytes from PKD patients show an energetic imbalance causing chronic non-spherocytic hemolytic anemia, as pyruvate kinase defects impair ATP production in erythrocytes. We generated PKD induced pluripotent stem cells (PKDiPSCs) from peripheral blood mononuclear cells (PB-MNCs) of PKD patients by no...
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...
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, ...
Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydroge...
Manco, L; Pereira, J; Relvas, L; Rebelo, U; Crisóstomo, AI; Bento, C; Ribeiro, MLGlucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp d...
Abnormal NK cell lymphocytosis detected after splenectomy: association with rep...
Granjo, E; Lima, M; Fraga, M; Santos, F; Magalhães, C; Queirós, ML; Moreira, I; Rocha, S; Silva, AS; Rebelo, I; Quintanilha, A; Ribeiro, ML; Candeias, JAbnormal NK cell lymphocytosis detected after splenectomy: association with repeated infections, relapsing neutropenia, and persistent polyclonal B-cell proliferation. Granjo E, Lima M, Fraga M, Santos F, Magalhães C, Queirós ML, Moreira I, Rocha S, Silva AS, Rebelo I, Quintanilha A, Ribeiro ML, Candeias J, Orfão A. Department of Hematology, Hospital S. João, Porto, Portugal. npp46740@mail.telepac.pt Abstract W...
Severe hereditary spherocytosis and distal renal tubular acidosis associated wi...
Ribeiro, ML; Alliosio, N; Almeida, H; Gomes, C; Texier, P; Lemos, C; Mimoso, G; Morlé, L; Bey-Cabet, F; Rudigoz, RC; Delaunay, J; Tamagnini, GAbsence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept ali...