Browsing by Author "Barreirinho, Maria Sameiro"
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- Brain stem ischemia in a boy with resistance to C activated protein and raised lipoprotein (A)Publication . Barreirinho, Maria Sameiro; Costa, Elísio; Moreira, Ana; Barbot, José; Barbot, Clara; Santos, ManuelaLa resistencia a la proteína C activada es la alteración hereditaria de la coagulación más frecuente. La mayoría de los casos resulta de la mutación Arg506®Gln en el gen del factor V, y se caracteriza por una respuesta reducida a la acción anticoagulante de la proteína C activada. Caso clínico. Descibimos el caso de un niño de 6 años, obeso, con hemiparesia derecha de instalación súbita por infarto en la hemiprotuberancia izquierda. La investigación adicional reveló resistencia a la proteína C activada debida a la heterocigosis para el factor V de Leiden, igualmente identificada en la madre, y la lipoproteína (a) aumentada. Se determinó profilaxis con ácido acetilsalicílico. La evolución fue favorable. Conclusiones. En ausencia de otros factores de riesgo para la trombofilia, esta mutación es generalmente asintomática en la infancia. La principal manifestación clínica es el tromboembolismo venoso y estudios recientes lo consideran un factor de riesgo para la trombosis arterial y el accidente cerebrovascular en niños. Consideramos importante una evaluación sistemática de la etiología y factores de riesgo en los casos de accidente cerebrovascular en la infancia
- Inherited and acquired risk factors and their combined effects in pediatric strokePublication . Barreirinho, Maria Sameiro; Ferro, Anabela; Santos, Manuela; Costa, Elísio; Pinto-Bastos, Jorge; Sousa, Alda; Sequeiros, Jorge; Maciel, Patricia; Barbot, Clara; Barbot, JoséThe aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115).We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant.Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls.Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation.
- Prothrombotic study in full term neonates with arterial strokePublication . Carrilho, Inês; Costa, Elísio; Barreirinho, Maria Sameiro; Santos, Manuela; Barbot, Clara; Barbot, José
- Ten years of prophylactic treatment with fresh-frozen plasma in a child with chronic relapsing thrombotic thrombocytopenic purpura as a result of a congenital deficiency of von Willebrand factor-cleaving proteasePublication . Barbot, José; Costa, Elísio; Guerra, Marisol; Barreirinho, Maria Sameiro; Isvarlal, Pratima; Robles, Rodolfo; Gerritsen, Helena; Lammle, Bernhard; Furlan, MihaWe report the results of 10 years of prophylactic fresh-frozen plasma (FFP) infusion therapy in a 14-year-old girl with chronic relapsing thrombotic thrombocytopenic purpura (TTP), in whom a severe congenital von Willebrand factor (VWF)-cleaving protease deficiency has been documented. Severe haemolytic crises triggered by infections were prevented and her present renal and neurological functions have been preserved. Sequential measurements of protease activity and platelet count after FFP infusion led us to conclude tentatively that 5% may be sufficient to degrade very large and adhesive VWF multimers.