ABSTRACT Introduction: metabolic syndrome is characterized by central obesity, metabolic abnormalities, dyslipidemia, hypertension and it includes different cardiovascular alterations; as well as the presence of diabetes mellitus. Objective: to characterize the risk factors of the metabolic syndrome in adolescents from San Juan and Martinez municipality during the year 2018. Methods: an observational, descriptive and cross-sectional study was carried out. The target group consisted of 522 patients, 141 of them were chosen through a simple random sampling. Individual and family health histories were reviewed. The data obtained were processed by SPSS. Results: there was a predominance of female sex (58,87 %) and white race (80,14 %). A history of hypertension in first line relatives was found in 63,1 % and 61 % showed average eating habits; 54,6 % of the sample was found to be normal weight, 75,2 % reported drinking alcoholic beverages and 88% were smokers. Conclusions: the presence of risk factors associated with the metabolic syndrome is increasing in adolescents, which brings about great probabilities for its development at this stage of life. Early diagnoses allow working on them and avoid future diseases and associated complications.

RESUMEN Introducción: el síndrome metabólico se caracteriza por la obesidad central, anomalías metabólicas, dislipidemia e hipertensión arterial y comprende diferentes alteraciones cardiovasculares; así como la presencia de diabetes mellitus. Objetivo: caracterizar los factores de riesgo del síndrome metabólico en adolescentes de San Juan y Martínez durante el año 2018. Métodos: se realizó un estudio observacional, descriptivo y transversal. El universo estuvo constituido por 522 pacientes, se seleccionaron 141 adolescentes mediante un muestreo aleatorio simple. Se realizó la revisión de las historias de salud individual y familiar. Los datos obtenidos fueron procesados mediante SPSS. Resultados: existió predominio del sexo femenino (58,87 %) y color de piel blanca (80,14 %). El 63,1 % presentó antecedentes de hipertensión arterial en familiares de primera línea y el 61 % mostró hábitos alimentarios regulares. El 54,6 % de la muestra se encontró normopeso, el 75,2 % refirió ingerir bebidas alcohólicas y el 88 % eran fumadores. Conclusiones: la presencia de factores de riesgo del síndrome metabólico es cada día mayor en los adolescentes, lo cual trae grandes probabilidades para desarrollarlo en esta etapa de la vida. El diagnóstico precoz permite trabajar sobre ellos y evitar futuras enfermedades y complicaciones asociadas.

Introduction: reproductive genetic risk in women involves factors of a varied nature which imply a potential risk for the descendants. Genetic pre-conception refers to the existence of diverse factors which constitute a potential hazard to the reproductive health, identified in non-pregnant women in fertile ages. Objective: to describe the behavior of genetic pre-conception risk in San Juan y Martinez municipality during 2011. Material and method: a descriptive, retrospective and cross-sectional study, which target group was comprised of the total of patients having pre-conception risk in the municipality, the sample included women classified with genetic pre-conception risk at Community Genetics Service, previous an informed consent; along with a medical interview aimed at obtaining data with absolute certainty and in-depth analysis. Results: 62% of women classified of having pre-conception risk included chromosomal anomalies, represented by adolescents followed by advanced maternal ages. Neural tube defects were the most frequent congenital defects followed by cardiac ones. A great number of patients participating in the study knew nothing of the effectiveness of folic acid intake before the conception. Conclusions: the program for the management and control of pre-conception risk should be promoted in health professionals, performing educational activities in order to reduce genetic risk before the pregnancy.

Introducción: el riesgo genético reproductivo en las mujeres comprende factores de variada naturaleza que implican un peligro potencial para la descendencia. Se considera riesgo preconcepcional genético a la existencia de factores de diversa índole, que constituyen un peligro potencial para la salud reproductiva, identificados en mujeres comprendidas en edad fértil no gestante. Objetivo: describir el comportamiento del riesgo preconcepcional genético en el municipio de San Juan y Martínez en el año 2011. Material y método: se realizó una investigación descriptiva, retrospectiva y de corte transversal. El universo estuvo constituido por el total de pacientes con riesgo preconcepcional del municipio, y la muestra por las mujeres clasificadas como riesgo preconcepcional genético durante el año 2011. Se revisaron todas las fichas individuales de riesgo genético preconcepcional existentes en el servicio municipal de genética médica comunitaria de San Juan y Martínez, previo consentimiento informado; se realizó además una entrevista médica con la finalidad de obtener los datos con mayor certeza y profundidad. Resultados: el 62,5% de las mujeres clasificadas como riesgo preconcepcional genético fue por cromosomopatías, representado por las adolescentes seguidas por la edad materna avanzada. Los defectos del cierre del tubo neural fueron los defectos congénitos más frecuentes, seguidos de los cardíacos. Un elevado número de las pacientes estudiadas no conocían la efectividad del ácido fólico antes de la concepción del embarazo. Conclusiones: se debe promover en los profesionales de la salud el programa del manejo y control del riesgo preconcepcional, con la realización de actividades educativas para disminuir el riesgo genético antes del embarazo.

Neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in NF1 gene have been described. Its locus is located at chromosome-17, thousand ALIGN="JUSTIFY">of genes are mapping, and some of them are found in very near regions of the gene of this disease. Medical literature about the topic was reviewed; a case presenting the exact clinical characteristics of a microdeletion syndrome of NF1 gene is reported, which constitutes a new case to the Cuban medical science.

La neurofibromatosis tipo 1 es una enfermedad genética neuroectodérmica, en la que han sido descritas diferentes tipos de mutaciones en el gen NF1, cuyo locus está en el cromosoma 17 y en este mapean miles de genes; algunos de ellos se encuentran en regiones muy próximas al gen de la enfermedad. En este trabajo se revisó la literatura médica sobre el tema y presenta un caso con características clínicas propias del síndrome de microdeleción del gen NF1, constituyendo un caso novedoso para la ciencia médica cubana.

Neurofibromatosis type-1 is a genetic condition that affects the development and cellular growth of the nervous system, which is clinically characterized by multiple café-au-lait spots, neurofibromas, freckles in non-sun exposed regions, Lisch nodules, osseous lesions and optic glioma. The present paper describes two families, having some individuals suffering from this condition and other members of the same family who present a different genetic condition. The intrafamilial coexistence of two different genetic conditions is very rare, that is why a literature review and a scientific research about the topic were carried out.

La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol, nódulos de Lisch, lesiones óseas y glioma óptico. En el presente trabajo se describen dos familias, en las cuales algunos individuos padecen esta enfermedad y otros miembros de la misma familia muestran una diferente enfermedad genética. La coexistencia intrafamiliar de dos enfermedades genéticas diferentes es muy poco frecuente, es por ello, que se decide realizar la revisión y publicación científica sobre el tema.

In this study, we evaluated whether human serum and lipoproteins, especially high-density lipoprotein (HDL), affected serum amyloid A (SAA)-induced cytokine release. We verified the effects of SAA on THP-1 cells in serum-free medium compared to medium containing human serum or lipoprotein-deficient serum. SAA-induced tumour necrosis factor-alpha (TNF-α) production was higher in the medium containing lipoprotein-deficient serum than in the medium containing normal human serum. The addition of HDL inhibited the SAA-induced TNF-α release in a dose-dependent manner. This inhibitory effect was specific for HDL and was not affected by low-density lipoprotein or very low-density lipoprotein. In human peripheral blood mononuclear cells, the inhibitory effect of HDL on TNF-α production induced by SAA was less pronounced. However, this effect was significant when HDL was added to lipoprotein-deficient medium. In addition, a similar inhibitory effect was observed for interleukin-1 beta release. These findings confirm the important role of HDL and support our previous hypothesis that HDL inhibits the effects of SAA during SAA transport in the bloodstream. Moreover, the HDL-induced reduction in the proinflammatory activity of SAA emphasizes the involvement of SAA in diseases, such as atherosclerosis, that are characterized by low levels of HDL.