ABSTRACT
Abstract Cystic fibrosis (CF) is an autosomal recessive disorder and is caused by variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We aimed to study the frequency of the F508del variant, the most common variant worldwide, in patients with CF from Paraguay. The frequency of the F508del variant in Paraguayan patients with a clinical diagnosis of CF was assessed using a polymerase chain reaction followed by the sequencing of the PCR products. 43 of the 86 patients (50%) were homozygous for the F508del variant, 28 were heterozygous (32.56%), and the remaining 15 (17.44%) were non-carriers. In terms of alleles, there were 114 mutated (114/172 or 66.28%) and 58 did not correspond to this variant (58/172 or 33.72%). This is the first study of the frequency of the F508del variant in patients with CF in Paraguay. This information is of utmost relevance when planning and offering treatments from health services.
ABSTRACT
Resumen Introducción: El dengue se encuentra en 128 países a nivel mundial, produciendo 390 millones de infecciones cada año, solo 96 millones se manifiestan clínicamente. En el Paraguay, la primera epidemia se registró en el período 1988-1989 con la circulación de DEN-1. En el año 2018, se ha registrado 3.414 casos confirmados en todo el país, en Itapúa se registraron 684 probables y167 confirmados. Objetivo: Describir la situación epidemiológica del Dengue en Encarnación 2018. Materiales y Métodos: Estudio observacional de diseño retrospectivo en el cual se revisaron fichas epidemiológicas del 2018, se incluyeron solo aquellas notificaciones de pacientes provenientes de la ciudad de Encarnación. Este estudio contó con la aprobación del Comité de Ética de la Universidad Autónoma. Resultados: En el 2018 se registraron en Encarnación 1418 notificaciones de los cuales 8% fueron confirmados, y 48% sospechosos, el 33 % correspondieron a la zona rural y el 67 % a la zona urbana. Discusión: Al observar las cifras de casos confirmados para Dengue se tienen valores inferiores al 10%, sin embargo, el 2018 se caracterizó por tener una epidemia a nivel regional, así como también nacional, por lo tanto, resulta clave el análisis en el contexto epidemiológico. Conclusión: El reporte de casos confirmados revela un bajo porcentaje de la enfermedad, en contraposición al alto valor en número de casos sospechosos, por lo tanto, allí radica la importancia de la epidemiología pues en caso de no ser confirmada por métodos laboratoriales podrá ser igualmente tratada a tal manera de evitar posibles complicaciones.
Abstract Introduction : Dengue is found in 128 countries worldwide, producing 390 million infections every year, only 96 million manifests clinically. In Paraguay, the first epidemic was recorded in the period 1988-1989 with the circulation of DEN-1. In 2018, 3,414 confirmed cases were registered throughout the country, in Itapúa 167 confirmed and 684 probable were registered. Objective: Describe the epidemiological situation of Dengue in Encarnacion 2018 Materials and Methods : An observational retrospective study in which epidemiological records of 2018 were reviewed, only those notifications of patients from the city of Encarnacion were included. This study was approved by the Ethics Committee of the Autonomous University. Results: In 2018, 1418 notifications were registered in Encarnacion, 8% of which were confirmed, and 48% suspected, 33% corresponded to the rural area and 67% to the urban area, 39% corresponded to the San Pedro neighborhood, 25% the downtown area, 19% San Isidro and 18% San Roque Gonzales. The age range with the highest number of cases was 20 to 39 years, 34% corresponded to the male sex and 39% to the female sex. Conclusion: The report of confirmed cases reveals a low percentage of the disease, as opposed to the high value in the number of suspected cases, therefore, therein lies the importance of epidemiology because if it is not confirmed by laboratory methods it can also be treated Such a way to avoid possible deaths