Consumo alimentario y hábitos dietéticos y tóxicos en embarazadas de la Provincia de Villa Clara

Introduction: advances in the knowledge of Epigenetics and its relationship with morbidity in adulthood emphasize more strongly the impact that a woman's diet has during pregnancy. Objective: to know the consumption of food and the dietary and toxic habits of pregnant women. Method: a descriptive and cross-sectional study was conducted in which a standardized interview was applied through the use of a semi-structured questionnaire to 100 pregnant women who attended the Genetics Services in the period between June and November 2016 in the Province of Villa Clara. Results: a large number of pregnant women consume fresh meat, milk, fish and fruits and in smaller quantities, vegetables; Pork meat is the most commonly consumed and many have no habit eat the pork liver ; A large number of woman did not take folic acid before pregnancy due to ignorance. Some pregnant women practice smoking and drink alcohol because they are unaware of the effects on pregnancy and its product. Conclusions: the majority of the pregnant women interviewed, report that they prefer to consume milk, pork and chicken, just over half reported eating liver, the highest percentage do not consume folic acid before pregnancy, and persist pregnant women who drink alcoholic beverages, coffee and cigarettes and expose your health and that of the future baby to its harmful effects.Introducción: los avances en los conocimientos de la Epigenética y su relación con la morbilidad en la edad adulta enfatizan con más fuerza en el impacto que tiene la alimentación de la mujer durante el embarazo. Objetivo: conocer el consumo de alimentos y los hábitos dietéticos y tóxicos de las gestantes. Método: se realizó un estudio descriptivo y transversal en el que se aplicó una entrevista estandarizada mediante el uso de un cuestionario semi-estructurado a 100 gestantes que asistieron a los Servicios de Genética en el período comprendido entre junio y noviembre de 2016 en la Provincia de Villa Clara. Resultados: un gran número de embarazadas consume carne, leche, pescado y frutas frescas y, en menor cantidad, vegetales; la carne de cerdo es la que se consumen con mayor frecuencia y muchas no tienen hábito de consumir hígado; un gran número no tomó el ácido fólico preconcepcional por desconocimiento. Algunas practican el hábito de fumar e ingieren bebidas alcohólicas porque desconocen los efectos sobre el embarazo y su producto. Conclusiones: de las gestantes entrevistadas la mayoría refieren consumir preferentemente leche, carne de cerdo y pollo, poco más de la mitad refirió ingerir hígado, el mayor por ciento no consume ácido fólico preconcepcional y persisten embarazadas que ingieren bebidas alcohólicas, café y cigarros y exponen su salud y la del futuro bebé a sus efectos nocivos

Exome sequencing in large, multiplex bipolar disorder families from Cuba.

Bipolar disorder (BD) is a major psychiatric illness affecting around 1% of the global population. BD is characterized by recurrent manic and depressive episodes, and has an estimated heritability of around 70%. Research has identified the first BD susceptibility genes. However, the underlying pathways and regulatory networks remain largely unknown. Research suggests that the cumulative impact of common alleles with small effects explains only around 25-38% of the phenotypic variance for BD. A plausible hypothesis therefore is that rare, high penetrance variants may contribute to BD risk. The present study investigated the role of rare, nonsynonymous, and potentially functional variants via whole exome sequencing in 15 BD cases from two large, multiply affected families from Cuba. The high prevalence of BD in these pedigrees renders them promising in terms of the identification of genetic risk variants with large effect sizes. In addition, SNP array data were used to calculate polygenic risk scores for affected and unaffected family members. After correction for multiple testing, no significant increase in polygenic risk scores for common, BD-associated genetic variants was found in BD cases compared to healthy relatives. Exome sequencing identified a total of 17 rare and potentially damaging variants in 17 genes. The identified variants were shared by all investigated BD cases in the respective pedigree. The most promising variant was located in the gene SERPING1 (p.L349F), which has been reported previously as a genome-wide significant risk gene for schizophrenia. The present data suggest novel candidate genes for BD susceptibility, and may facilitate the discovery of disease-relevant pathways and regulatory networks