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
Objetivo: identificar las enfermedades más frecuentes de los niños del programa familia canguro, así como los antecedentes sociodemográficos y ginecobstétricos de la madre y características relacionadas con el recién nacido. Metodología: se realizó un estudio cuantitativo descriptivo en una muestra no probabilística a conveniencia, en el que se revisaron 86 historias clínicas de niños que fueron atendidos en el programa familia canguro de junio a diciembre de 2009, con un peso menor de 2 500 gr y con menos de 37 semanas de edad gestacional. Resultados: el promedio de edad de las madres fue de 26 ± 6.6 años. Un 50.2% pertenecía al estrato 2; 44.4% tenía secundaria completa; 40.7% está conformado por primigestantes y al 54.3% se le practicó cesárea. El promedio del peso de los niños al nacer fue de 1 715 ± 490 gramos. La edad gestacional en promedio fue de 33 ± 7.8 semanas. El 8.1% de los niños presentó bronquiolitis, 7% ictericia, 7% reflujo gastroesofágico y un 66.3% no presentó morbilidad. Conclusiones: el estudio mostró una baja frecuencia de enfermedades en los neonatos del programa madre-canguro de la Clínica Universitaria Bolivariana.
Objective: to identify the most frequent diseases in children of the kangaroo family program, as well as the mother Ìs sociodemographic and gynecobstetric background and characteristics related to the new born. Methods: a descriptive quantitative study was made in a convinient nonprobabilístic sample, in which 86 medical histories of children who attended the kangaroo family program from June to December 2009 were reviewed, with a weight less than 2500 grams and with less than 37 weeks of gestational age. Results: the average age of the mothers was 26 ± 6.6 years old. 50.2% belonged to a socioeconomic status 2; 44.4% had completed secondary school; 40.7% were primiparous and 54.3% underwent caesarean. The average weight of the newborns was 1 715 ± 490 gr. The average gestational age was 33 ± 7.8 weeks. 8.1% of the children presented bronchiolitis, 7% jaundice, 7% Gastroesophageal reflux and 66.3% did not present any morbidityConclusions: the study showed a low frequency of diseases in infants of the mother kangaroo program of the Bolivarian University Clinic
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Infant , Kangaroo-Mother Care Method , Bronchiolitis , Gestational Age , MorbidityABSTRACT
Malaria is the most important parasitic disease worldwide, responsible for an estimated 225 million clinical cases each year. It mainly affects children, pregnant women and non-immune adults who frequently die victims of cerebral manifestations and anaemia. Although the contribution of the American continent to the global malaria burden is only around 1.2 million clinical cases annually, there are 170 million inhabitants living at risk of malaria transmission in this region. On the African continent, where Plasmodium falciparum is the most prevalent human malaria parasite, anaemia is responsible for about half of the malaria-related deaths. Conversely, in Latin America (LA), malaria-related anaemia appears to be uncommon, though there is a limited knowledge about its real prevalence. This may be partially explained by several factors, including that the overall malaria burden in LA is significantly lower than that of Africa, that Plasmodium vivax, the predominant Plasmodium species in the region, appears to display a different clinical spectrus and most likely because better health services in LA prevent the development of severe malaria cases. With the aim of contributing to the understanding of the real importance of malaria-related anaemia in LA, we discuss here a revision of the available literature on the subject and the usefulness of experimental animal models, including New World monkeys, particularly for the study of the mechanisms involved in the pathogenesis of malaria.