RESUMO
Resumen Introducción: en los últimos años se han descrito alteraciones genéticas asociadas con un mayor o menor riesgo de padecer una enfermedad trombótica. El objetivo del presente estudio es conocer la prevalencia de las mutaciones para la metilentetrahidrofolato reductasa (MTHFR), la protrombina (II G20210G/G20210A) y el factor V Leyden en las muestras de pacientes sometidas a estudio por perfil trombofílico en el Hospital San Vicente de Paúl. Metodología: con la base de datos de muestras referidas del Hospital San Vicente de Paúl, se estudiaron los marcadores de riesgo para trombofilia: MTHFR, Ac Lúpico, mutación del Factor II y Factor V Leyden correspondientes al periodo comprendido entre abril de 2017 a abril de 2018. Resultados: se observó que la frecuencia de la solicitud de estudio por trombofilia era mayor para el sexo femenino, con un 83,7 % del total de análisis, mientras que, para el sexo masculino fue de un 16,3 %. La mutación más prevalente fue la MTHFR, seguida del factor V Leyden, además, ambas se presentaron superiormente en las mujeres. Conclusión: se ha demostrado en varios estudios la asociación de las alteraciones genéticas estudiadas con los eventos trombóticos, por lo tanto, conocer su prevalencia en determinada población es de gran importancia para ayudar al clínico a llegar a un diagnóstico adecuado.
Abstract Introduction: Genetic alterations associated with a higher or lower risk of thrombotic disease have been reported in recent years, the objective of this study is to understand the prevalence of mutations for methylentetrahydrofolate reductase (MTHFR), Mutation for prothrombin (II G20210G/G20210A) and Mutation for factor V Leyden, in the samples of patients undergoing studies by thrombophilic profile, at the Hospital San Vicente de Paul. Methodology: To carry out this study, we use the database of reference samples of the Hospital San Vicente de Paúl for the study of risk markers for thrombophilia: MTHFR, Ac Lúpico, Mutation of Factor II, Factor V Leyden in the period from April 2017 to April 2018. Results: From the analyses requested for thrombophilia study, the frequency in the thrombophilia study request was observed to be higher for female sex, with a frequency of 83.7% of total testing and 16.3% for the male sex. The most prevalent mutation is MTHFR, followed by the Mutation for factor V Leyden, and both mutations occur in greater numbers in women. Conclusion: The association of genetic alterations studied with thrombotic events has been shown in several studies so knowing their prevalence in a given population is of great importance to help the clinic arrive at an appropriate diagnosis.
Assuntos
Humanos , Trombose , Protrombina , 5,10-Metilenotetra-Hidrofolato Redutase (FADH2) , Mutação , Hemofilia BRESUMO
The IKZF1 gene encodes for Ikaros, a transcriptional factor in B-cell development. Deletions in this gene have been associated with a worse prognosis in B-cell acute lymphoblastic leukemia (B-ALL). We evaluated the presence of these alterations in all Costa Rican pediatric patients diagnosed with B-ALL between 2011 and 2014, treated with a modified Berlin-Frankfurt-Münster therapeutic protocol. Multiplex polymerase chain reaction with 2 detection methods (agarose gel and gene scanning) was used to detect intragenic deletions and multiplex ligation-dependent probe amplification for whole-gene deletions. Differences between groups (normal vs. deleted IKZF1) were analyzed by the χ test, the Kaplan-Meier test was used to calculate relapse-free survival and overall survival, and Cox regression was performed for multivariant analysis. Minimum follow-up was 4.5 years. Incidence of IKZF1 deletions was 12.9% (n=20), with an equal amount of intragenic and complete gene deletions. Adverse karyotype (P=0.048), high-risk category (P=0.030), occurrence of relapse (P=0.021), and medullar relapse (P=0.011) were statistically associated with the presence of deletions in IKZF1. Relapse-free survival at 54 months was lower in patients harboring an IKZF1 deletion than that in patients with IKZF1-wt (40.0% vs. 66.7%; P=0.014). Patients with B-ALL and IKZF1 deletions, showed a poorer relapse-free survival, in comparison with patients with IKZF1-wt, suggesting that IKZF1 status is an independent prognostic factor for pediatric patients with B-ALL.
Assuntos
Biomarcadores/análise , Deleção de Genes , Fator de Transcrição Ikaros/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Adolescente , Criança , Pré-Escolar , Costa Rica/epidemiologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras B/epidemiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Prognóstico , Taxa de SobrevidaRESUMO
Resumen: Objetivos:(i) Determinar la prevalencia de deficiencias nutricionales y anemia en preescolares que se benefician de dos programas de ayuda nutricional (intramuros y extramuros) en los Centros de Educación y Nutrición y Centros Infantiles de Nutrición y Atención Integral (CEN-CINAI) e (ii) identificar los factores socioeconómicos asociados con deficiencias nutricionales y anemia en esta población. Métodos: Se censaron 2503 niñas y niños de 13 centros CEN-CINAI de la Región Central Sur de Costa Rica en el período 2014-2016. La infomación sobre las características socioeconómicas de sus familias se obtuvo mediante un cuestionario estructurado. Además, se tomaron medidas antropométricas (n=2205) y muestras de sangre para hemograma (n=2203) de las niñas y los niños. Resultados: Se estimó una prevalencia de deficiencias nutricionales de 15,4% (intervalo de confianza [IC] 95%: 14,0-17,0) y una prevalencia de anemia de 7,5% (IC 95%: 6,4-8,6). Ambas condiciones fueron más frecuentes en infantes ≤5 años (23,2% para deficiencias nutricionales y 8,6% para anemia) y quienes se beneficiarian del programa de ayuda extramuros (41,9% y 10,6%, respectivamente). Otros factores demográficos y socioeconómicos, tales como ser del sexo femenino, habitar en una vivienda no adecuada con un techo de material natural o de desecho y ser parte de una familia numerosa (>4 integrantes) también se asociaron con la presencia de deficiencias nutricionales y/o anemia. Conclusiones: Las prevalencias de deficiencias nutricionales y anemia observadas en este estudio resaltan la importancia de intervenir aquellos factores sociodemográficos modificables que influyen en estas prevalencias y mejorar la atención médica de preescolares en condición de vulnerabilidad.
Abstract: Objectives:(i) Determining the prevalence of nutritional deficiencies and anemia in preschool children who are beneficiaries from two nutritional aid programs (intramural and extramural) in the Education and Nutrition Centers and Children's Centers for Nutrition and Comprehensive Care (CEN-CINAI), and (ii) identifying the socioeconomic factors associated with nutritional deficiencies and anemia in these children. Methods: A total of 2503 children from 13 CEN-CINAI of the Central South Region of Costa Rica were surveyed in 2014-2016. Data on socioeconomic characteristics of their families were obtained using a structured questionnaire. In addition, anthropometric measurements (n = 2205) and blood samples for complete blood counts (n = 2203) were collected from the children. Results: We estimated a prevalence of nutritional deficiencies at 15.4% (95% confidence interval [CI]: 14.0-17.0) and anemia at 7.5% (95% CI: 6.4-8.6). Both conditions were more frequent in children aged ≤5 years (23.2% for nutritional deficiencies and 8.6% for anemia) and in children who are beneficiares from the extramural assistance program (41.9% and 10.6%, respectively). Other demographic and socio-economic factors, such as being female, living in inadequate housing with a roof made of natural material or waste, and being part of a large family (>4 members) were also associated with the presence of nutritional deficiencies and/or anemia. Conclusions: The prevalence of nutritional deficiencies and anemia observed in this study highlight the importance of intervening on modifiable sociodemographic factors that influence these prevalences and improving the medical care of preschool children living in vulnerable conditions.
