Investigaciones en la CCSS

URI permanente para esta colecciónhttp://hdl.handle.net/20.500.11764/663

En la CCSS, se llevan a cabo una serie de investigaciones de gran importancia para el desarrollo de la salud y la seguridad social de Costa Rica y además son una contribución a la investigación mundial.

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First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
(2017) Rodríguez Roblero, María Consuelo; Torrealba Acosta, Gabriel; Bogantes Ledezma, Sixto; Carazo Céspedes, Kenneth; Desnuelle, Claude
Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weaknes s, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges. Genetic analysis of the GAA gene from this patient revealed two pathogenic compound heterozygous mutations: c.-32-13T>G (rs386834236, intronic), c.2560C>T (rs121907943, p.Arg854Ter); and one variant of unknown significance: c.1551+42G>A (rs115427918, intronic).We found expected mutations in two siblings and two nieces. Genetic variants reported in this family reflect on the European and African ancestry that we carry in our Costa Rican population
Spinal epidural empyema extending from a pleural empyema: case description and anatomical overview
(2017) Torrealba Acosta, Gabriel; Josephy Hernández, Sylvia; Castro Ulloa, Gabriel; Rodríguez Rojas, Greivin
We present a case of a patient with diabetes with a pleural empyema originated from a pyomyositis process established after a central line procedure. This empyema later on extended into the spinal canal deriving into an epidural empyema, leading towards a spinal neurogenic shock and death. We discuss the anatomical substrate for this extension as well as the anatomopathological findings observed in the autopsy

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