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Gray platelet syndrome: Novel mutations of the NBEAL2 gene
(Wiley-liss, Div John Wiley & Sons Inc, 2017-02)
Gray platelet syndrome (GPS) is a rare inherited macrothrombocytopenia characterized by reduction of a-granules in platelets and megakaryocytes associated with mild-tomoderate bleeding and myelofibrosis [1]. As reported ...
A deep dive into the pathology of gray platelet syndrome: new insights on immune dysregulation
(Dove Press, 2021-08)
The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 muta-tions. Typical clinical features include macrothrombocytopenia, ...
Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients
(Nature Publishing Group, 2016-03)
The Gray Platelet Syndrome (GPS) is a rare inherited bleeding disorder characterized by deficiency ofplatelet α-granules, macrothrombocytopenia and marrow fibrosis. The autosomal recessive form ofGPS is linked to loss of ...
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency
(Ferrata Storti Foundation, 2013-06)
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. The genetic defect responsible for gray platelet syndrome was ...
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
(Wiley Blackwell Publishing, Inc, 2012-08)
Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited ...
Trastornos plaquetarios primarios en la especie humana: Aspectos biomédicos: biología, patobiología y bioclínica
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2007-09-01)
Feno-genotipificación de desórdenes plaquetarios hereditarios: nuestra experiencia en 50 familiasPheno-genotyping of inherited thrombocytopenias: our experience in 50 families
(Sociedad Argentina de Hematología, 2020-08-31)
Dada la heterogeneidad de las entidades comprendi- das en las trombocitopenias hereditarias y la escasez de marcadores distintivos, su diagnóstico constituye un verdadero desafío. El abordaje clásico se basa en la ...
Impacto de experiencias traumáticas sobre el desarrollo cognitivo y emocional en niños y adolescentes victimas de violencia en el municipio de Bucaramanga
(Universidad Autónoma de Bucaramanga UNABFacultad Ciencias de la SaludPregrado Psicología, 2006)
El objetivo de esta investigación es valorar el impacto psicológico del trauma en niños y adolescentes, víctimas de violencia en el municipio de Bucaramanga; Establecer el nivel de desempeño cognitivo y emocional e identificar ...
Caracterización del potencial oncolítico del aislamiento rotaviral Wt1-5 en cultivos primarios de leucemia linfoblástica aguda de precursores B
(Bogotá - Ciencias - Doctorado en BiotecnologíaUniversidad Nacional de Colombia - Sede Bogotá, 2018-09-28)
Cancer is a major health problem that poses a great challenge to health care systems around the world. Current tools for cancer treatment have advanced rapidly in recent years, resulting in new alternative and complementary ...
Identificación de indicadores de calidad de la atención para fisioterapia: una revisión sistemática
Introduction: Despite the emerging role of indicators for the evaluation of quality of care in physical therapy, these have been developed mainly for other health areas and only some are relevant and applicable to physical ...