ABSTRACT
Resumen Las cardiopatías familiares son un grupo de enfermedades con alta heterogeneidad clínica y genética. Debido a que pueden heredarse y a su asociación con la muerte súbita, se recomienda efectuar un estudio clínico y genético del individuo afectado y su familia a través de una unidad especializada. Con la implementación de la secuenciación masiva se ha facilitado el acceso a los estudios genéticos en la práctica clínica de forma más rutinaria. Sin embargo, dada la gran cantidad de información obtenida se hacen necesarios el análisis y la interpretación adecuada de los resultados para garantizar un diagnóstico correcto. Este nuevo modelo de medicina amplía nuestra comprensión sobre estas patologías, gracias a que optimiza el diagnóstico, da una mejor aproximación pronóstica de los pacientes e identifica individuos asintomáticos en riesgo. Este artículo pretende realizar una revisión de la arquitectura genética de las enfermedades cardíacas hereditarias y proporcionar un enfoque práctico acerca de la utilidad de la Medicina genómica en el diagnóstico, la estratificación del riesgo y el estudio familiar en pacientes con este tipo de patologías.
Abstract The familial heart diseases are a group of diseases with high clinical and genomic heterogeneity. As they can be inherited and are associated with sudden death, it is recommended to perform a clinical and genetic study of the individual affected, as well as the family, in a specialised unit. The implementation of massive sequencing has meant that access to genetic studies is available in the most routine clinical practice. However, due to the large amount of information obtained, the results have to analysed and interpreted to ensure a correct diagnosis. This new medicine model widens the understanding of these diseases, as due to the diagnosis being optimised, it provides a more accurate prognosis for the patients, and identifies asymptomatic individuals at risk. A review is presented on the genetic architecture of heritable heart disease and provides a practical approach on the usefulness of Genomic Medicine in the diagnosis, risk stratification, and the familial study in patients with these types of heart diseases.
Subject(s)
Humans , Death, Sudden, Cardiac , Cardiomyopathies , Phenotype , Whole Genome Sequencing , GenotypeABSTRACT
Abstract: to determine the relationship between caries and overall child development in three-year-old children in the cities of Linares and Talca, Chile, 2014-2015. Method: Cross-sectional study conducted in a sample of 170 preschool children attending daycare centers in Linares and Talca. Four dimensions of child development (language, cognition, motor skills and socio-emotional development) were qualitatively assessed using the child learning and development test (TADI, for its acronym in Spanish). Nutritional development was calculated with the weight/height index. Caries history was assessed by the dmft index and compromised tissue quantification. Statistical analysis was performed using Pearson's rho, ANOVA, Students t-test, Fishers exact test and Kruskal-Wallis. Results: A negative linear correlation was observed between dmft and total TADI score (r=-0.20, p=0.00), and the dimensions of language (r=-0.19, p=0.01), cognition (r=-0.18, p=0.02) and socio-emotional development (r=-0.21, p=0.01). Preschoolers with a dmft of >6.5 had a lower average TADI score than those with a dmft of <2.6 (p=0.009). There were no statistically significant differences in the level of compromised tissue quantification between preschool children with normal and altered development. No statistically significant association between dmft and nutritional development was found. Conclusion: A relationship between caries severity and overall child development in three-year-old preschool children was observed. Longitudinal studies are required to assess causality.
Resumen: determinar la relación entre la severidad de caries y el desarrollo infantil integral en preescolares de tres años de las ciudades Linares y Talca durante el período 2014- 2015. Método: Estudio transversal con una muestra de 170 preescolares asistentes a jardines infantiles de Linares y Talca. El test de aprendizaje y desarrollo infantil (TADI) evaluó el desarrollo en cuatro dimensiones (lenguaje, cognición, motricidad y socioemocionalidad). El desarrollo nutricional se calculó con el índice peso/talla. Se evaluó la historia de caries mediante ceod y compromiso del tejido dentario. Se realizó análisis estadístico con rho de Pearson, ANOVA, t de student, test exacto de Fisher y Kruskall Wallis. Resultados: Se observó una correlación lineal negativa entre ceod y el puntaje total del TADI (r=-0,20, p=0,00), y las dimensiones de lenguaje (r=-0,19, p=0,01), cognición (r=-0,18, p=0,02) y socioemocionalidad (r=-0,21, p=0,01). Los preescolares con ceod >6,5 tuvieron un promedio TADI menor que aquellos con ceod <2,6 (p=0,009). No hubo diferencias estadísticamente significativas entre el compromiso del tejido dentario entre preescolares con desarrollo normal y alterado. No se observó asociación estadísticamente significativa entre ceod y desarrollo nutricional. Conclusión: Se observó una relación entre la severidad de caries y el desarrollo infantil integral en preescolares de tres años. Se requiere de estudios longitudinales para evaluar su causalidad.
Subject(s)
Male , Female , Humans , Child, Preschool , Child Development , Dental Caries/epidemiology , Analysis of Variance , Chile , Cross-Sectional Studies , DMF Index , Severity of Illness IndexABSTRACT
Sudden cardiac death (SCD) is a common cause of death in hypertrophic cardiomyopathy (HC). Our aim was to conduct an external and independent validation in South America of the 2014 European Society of Cardiology (ESC) SCD risk prediction model to identify patients requiring an implantable cardioverter defibrillator. This study included 502 consecutive patients with HC followed from March, 1993 to December, 2014. A combined end point of SCD or appropriate implantable cardioverter defibrillator therapy was assessed. For the quantitative estimation of individual 5-year SCD risk, we used the formula: 1 - 0.998(exp(Prognostic index)). Our database also included the abnormal blood pressure response to exercise as a risk marker. We analyzed the 3 categories of 5-year risk proposed by the ESC: low risk (LR) <4%; intermediate risk (IR) ≥4% to <6%, and high risk (HR) ≥6%. The LR group included 387 patients (77%); the IR group 39 (8%); and the HR group 76 (15%). Fourteen patients (3%) had SCD/appropriate implantable cardioverter defibrillator therapy (LR: 0%; IR: 2 of 39 [5%]; and HR: 12 of 76 [16%]). In a receiver-operating characteristic curve, the new model proved to be an excellent predictor because the area under the curve for the estimated risk is 0.925 (statistical C: 0.925; 95% CI 0.8884 to 0.9539, p <0.0001). In conclusion, the SCD risk prediction model in HC proposed by the 2014 ESC guidelines was validated in our population and represents an improvement compared with previous approaches. A larger multicenter, independent and external validation of the model with long-term follow-up would be advisable.