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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Epidemiology of Stroke in Costa Rica: A 7-Year Hospital-Based Acute Stroke Registry of 1319 Consecutive Patients
(2017) Torrealba Acosta, Gabriel; Carazo Céspedes, Kenneth; Chiou, Sy Han; Terrence O’Brien, Anthony; Fernández Morales, Huberth
Background: Limited data on stroke exist for Costa Rica. Therefore, we created a stroke registry out of patients with stroke seen in the Acute Stroke Unit of the Hospital Calderon Guardia. Methods: We analyzed 1319 patients enrolled over a 7-year period, which incorporated demographic, clinical, laboratory, and neuroimaging data. Results: The mean age of patients with stroke was 68.0 ± 15.5 years. Seven hundred twenty-five were men and the age range was 13-104 years. The most prevalent risk factors were hypertension (78.8%), dyslipidemia (36.3%), and diabetes (31.9%). Fifteen percent had atrial fibrillation and 24.7% had a previous stroke or transient ischemic attack. Prevalence of hypertension and atrial fibrillation increased with age; however, younger patients were more associated with thrombophilia. We documented 962 (72.9%) ischemic and 270 (20.5%) hemorrhagic strokes. Of the ischemic strokes, 174 (18.1%) were considered secondary to large-artery atherothrombosis, 175 (18.2%) were due to cardiac embolism, 19 (2.0%) were due to lacunar infarcts, and 25 (2.6%) were due to other determined causes. Five hundred sixty-nine (59.1%) remained undetermined. Atherothrombotic strokes were mostly associated with dyslipidemia, diabetes, metabolic syndrome, and obesity, whereas lacunar infarcts were associated with hypertension, smoking, sedentary lifestyle, and previous stroke or transient ischemic attack. Of our patients, 69.9% scored between 0 and 9 in the initial National Institutes of Health Stroke Scale (NIHSS). Conclusions: We found differences in sociodemographic features, risk factors, and stroke severity among stroke subtypes. Risk factor prevalence was similar to other registries involving Hispanic populations.
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

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Examinando Investigaciones en la CCSS por Autor "Carazo Céspedes, Kenneth"