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

A genetic history of the pre-contact Caribbean

Humans settled the Caribbean about 6,000 years ago, and ceramic use and intensified agriculture mark a shift from the Archaic to the Ceramic Age at around 2,500 years ago1,2,3. Here we report genome-wide data from 174 ancient individuals from The Bahamas, Haiti and the Dominican Republic (collectively, Hispaniola), Puerto Rico, Curaçao and Venezuela, which we co-analysed with 89 previously published ancient individuals. Stone-tool-using Caribbean people, who first entered the Caribbean during the Archaic Age, derive from a deeply divergent population that is closest to Central and northern South American individuals; contrary to previous work4, we find no support for ancestry contributed by a population related to North American individuals. Archaic-related lineages were >98% replaced by a genetically homogeneous ceramic-using population related to speakers of languages in the Arawak family from northeast South America; these people moved through the Lesser Antilles and into the Greater Antilles at least 1,700 years ago, introducing ancestry that is still present. Ancient Caribbean people avoided close kin unions despite limited mate pools that reflect small effective population sizes, which we estimate to be a minimum of 500–1,500 and a maximum of 1,530–8,150 individuals on the combined islands of Puerto Rico and Hispaniola in the dozens of generations before the individuals who we analysed lived. Census sizes are unlikely to be more than tenfold larger than effective population sizes, so previous pan-Caribbean estimates of hundreds of thousands of people are too large5,6. Confirming a small and interconnected Ceramic Age population7, we detect 19 pairs of cross-island cousins, close relatives buried around 75 km apart in Hispaniola and low genetic differentiation across islands. Genetic continuity across transitions in pottery styles reveals that cultural changes during the Ceramic Age were not driven by migration of genetically differentiated groups from the mainland, but instead reflected interactions within an interconnected Caribbean world1,8.This work was supported by a grant from the National Geographic Society to M. Pateman to facilitate analysis of skeletal material from The Bahamas and by a grant from the Italian ‘Ministry of Foreign Affairs and International Cooperation’ (Italian archaeological, anthropological and ethnological missions abroad, DGPSP Ufficio VI). D.R. was funded by NSF HOMINID grant BCS-1032255, NIH (NIGMS) grant GM100233, the Paul Allen Foundation, the John Templeton Foundation grant 61220 and the Howard Hughes Medical Institute.Peer reviewe

Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study

<p>Abstract</p> <p>Background</p> <p>The prevalence and incidence of dementia are low in Nigeria, but high among African-Americans. In these populations there is a high frequency of the risk-conferring APOE-e4 allele, but the risk ratio is less than in Europeans. In an admixed population of older Cubans we explored the effects of ethnic identity and genetic admixture on APOE genotype, its association with dementia, and dementia prevalence.</p> <p>Methods</p> <p>A cross-sectional catchment area survey of 2928 residents aged 65 and over, with a nested case-control study of individual admixture. Dementia diagnosis was established using 10/66 Dementia and DSM-IV criteria. APOE genotype was determined in 2520 participants, and genetic admixture in 235 dementia cases and 349 controls.</p> <p>Results</p> <p>Mean African admixture proportions were 5.8% for 'white', 28.6% for 'mixed' and 49.6% for 'black' ethnic identities. All three groups were substantially admixed with considerable overlap. African admixture was linearly related to number of APOE-e4 alleles. One or more APOE-e4 alleles was associated with dementia in 'white' and 'black' but not 'mixed' groups but neither this, nor the interaction between APOE-e4 and African admixture (PR 0.52, 95% CI 0.13-2.08) were statistically significant. Neither ethnic identity nor African admixture was associated with dementia prevalence when assessed separately. However, considering their joint effects African versus European admixture was independently associated with a higher prevalence, and 'mixed' or 'black' identity with a lower prevalence of dementia.</p> <p>Conclusions</p> <p>APOE genotype is strongly associated with ancestry. Larger studies are needed to confirm whether the concentration of the high-risk allele in those with African ancestry is offset by an attenuation of its effect. Counter to our hypothesis, African admixture may be associated with higher risk of dementia. Although strongly correlated, effects of admixture and ethnic identity should be distinguished when assessing genetic and environmental contributions to disease risk in mixed ancestry populations.</p

Propuesta de la asignatura Introducción a las Tecnologías Ómicas para los currículos propio u optativo/electivo de la carrera Medicina

Fundamento: las tecnologías ómicas han provocado cambios en la práctica médica, al punto de que se habla de una medicina genómica, personalizada o de precisión, resultado de sus aplicaciones clínicas. Para su implementación se requiere la formación de los profesionales de la salud en estos temas.Objetivo: describir el programa de una asignatura, propuesta para tratar las tecnologías ómicas como contenido en la carrera Medicina.Métodos: los objetivos generales fueron derivados de los objetivos del segundo año, según la Resolución 2 de 2018 del Ministerio de Educación Superior. Se consideraron objetivos temáticos, sistemas de conocimientos, habilidades y valores. Se proponen orientaciones metodológicas, un sistema de evaluación del aprendizaje y bibliografía actualizada.Resultados: la propuesta de asignatura tiene un total de 30 horas presenciales, distribuidas en los tipos de clase: conferencia, clase práctica, seminario y taller. La evaluación final es la defensa de un trabajo de curso. Promueve la vinculación básico-clínica y la sistematización de los contenidos tratados por las disciplinas y asignaturas precedentes y consecuentes. Profundiza en temas escasamente tratados en la carrera, como la secuenciación genómica, la edición del genoma, la farmacogenética y la bioinformática. Se articula con las estrategias curriculares establecidas para la carrera, especialmente las de investigaciones e informática, dominio del idioma inglés y la educativa.Conclusiones: la asignatura propuesta puede incluirse en los currículos propio u optativo/electivo, e impartirse de forma extendida o concentrada. Constituye una opción para el tratamiento de las tecnologías ómicas y la medicina de precisión en la formación médica inicial.</p

Expresiones clínicas en niños nacidos de madres infectadas por el virus del Zika durante el embarazo en el Hospital Pediátrico Borrás-Marfán. 2016-2018

Introduction: The infection of the Zika virus that is endemic in Asia and Africa has now been extended to the Americas. This virus is considered teratogenic, producing a new disease that must be studied in depth. Objetives: This is to identify the clinical expressions found in children from mothers infected with the Zika virus during their pregnancy, and thereby establish the possible association of the time of the prenatal exposure to the Zika virus and the positive clinical findings. Methods: We carried out a transversal descriptive study, with 86 children from women having had an infection by the Zika virus, which were pregnant between January 2016 and December 2018. For the correlation between the presence of positive findings and the trimester of pregnancy at the detection of the infection by the Zika virus, we used Spearman’s correlation with a significance level of p ≤ 0.05. Results: Out of the total number of patients included in the study, 27 expressed a positive clinical finding. Among the neurological disorders, those related to muscular tone were the most frequent (15.48%), followed by psychomotor retardation (10.71%) and microcephaly (9.52%). An association was observed between the prenatal exposure to the Zika virus during the first trimester of pregnancy and the presence of positive clinical findings. Conclusions: There was a prevalence of neurological expressions, followed by visual expressions. The evidence proved that the exposure to the Zika virus during the first trimester of pregnancy had a teratogenic effect.Introducción: La infección del virus del Zika, endémico en Asia y África, se ha extendido a las Américas. Este virus se considera teratógeno, produciendo una nueva enfermedad que debe ser estudiada en profundidad.Objetivos: Identificar las expresiones clínicas encontradas en niños nacidos de madres infectadas con el virus del Zika durante su embarazo, y establecer la posible asociación del momento de la exposición prenatal al virus del Zika y los hallazgos clínicos positivos.Métodos: Realizamos un estudio descriptivo transversal con 86 niños nacidos de mujeres que habían tenido una infección por el virus del Zika durante el embarazo entre enero de 2016 y diciembre de 2018. Para la correlación entre la presencia de hallazgos positivos y el trimestre del embarazo en el que se detectó la infección por el virus del Zika, utilizamos la correlación de Spearman con un nivel de significancia de p ≤ 0,05.Resultados: De la cantidad total de pacientes incluidos en el estudio, 27 presentaron hallazgos clínicos positivos. Entre los trastornos neurológicos, los relacionados con el tono muscular fueron los más frecuentes (15,48%), seguidos del retraso psicomotor (10,71%) y la microcefalia (9,52%). Se observó una asociación entre la exposición prenatal al virus del Zika durante el primer trimestre del embarazo y la presencia de hallazgos clínicos positivos.Conclusiones: Hubo una prevalencia de expresiones neurológicas, seguidas de expresiones visuales. La evidencia demostró que la exposición al virus del Zika durante el primer trimestre del embarazo tuvo un efecto teratógeno

Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence

International audienceThe region surrounding the Caribbean Sea is predominantly composed of island nations for its Eastern part and from the American continental coast on its Western part. A large proportion of the population, particularly in the Caribbean islands, traces its ancestry to Africa as a consequence of the Atlantic slave trade during the XVI-XVIII centuries. As a result, sickle cell disease has been largely introduced in the region. Some Caribbean countries and/or territories such as Jamaica and the French territories initiated newborn screening (NBS) programs for sickle cell disease more than 20 years ago. They have demonstrated the major beneficial impact on mortality and morbidity resulting from early childhood care. However, similar programs have not been implemented in much of the region. This paper presents an update of the existing NBS programs and the prevalence of sickle cell disease in the Caribbean. It demonstrates the impact of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia (CAREST) on the extension of these programs. The presented data illustrate the importance of advocacy in convincing policy makers of the feasibility and benefit of NBS for sickle cell disease when coupled to early care

Incidence of dementia and association with APOE genotype in older Cubans

OBJECTIVE: In an admixed population of older Cubans, the incidence and association of APOE and socio demographic risk factors with dementia incidence was estimated. METHODS: A single-phase survey (baseline) of all over 65-year-olds residing in seven catchment areas in Cuba (n=2944) was conducted between 2003 and 2007. Dementia diagnosis was established according to DSM-IV and 10/66 criteria. APOE genotype was determined in 2520 participants. An incidence wave was conducted 4.5 years after cohort inception in order to estimate incidence and associations with sociodemographic risk factors of the APOE &#949;4 genotype. RESULTS: The incidence rate of DSM IV dementia was 9.0 per 1000 person-years (95% CI 7.2-11.3) and of 10/66 dementia was 20.5 per 1000 person-years (95% CI, 17.6-23.5). Older age, a family history of dementia and APOE &#949;4 genotype were independent risk factors for incident 10/66 dementia. APOE genotype was associated cross-sectionally with dementia prevalence, but the effect on the incidence of dementia was attenuated, and only apparent among those in the youngest age group. CONCLUSION: The incidence of dementia in the older Cuban population is relatively high and similar to levels reported in Europe and North-America. The study showed that the relationship between APOE &#949;4 and incident dementia is stronger in the younger-old than the older-old and that this change must be taken into account in models of dementia

Exploring Cuba’s population structure and demographic history using genome-wide data

International audienceCuba is the most populated country in the Caribbean and has a rich and heterogeneous genetic heritage. Here, we take advantage of dense genomic data from 860 Cuban individuals to reconstruct the genetic structure and ancestral origins of this population. We found distinct admixture patterns between and within the Cuban provinces. Eastern provinces have higher African and Native American ancestry contributions (average 26% and 10%, respectively) than the rest of the Cuban provinces (average 17% and 5%, respectively). Furthermore, in the Eastern Cuban region, we identified more intense sex-specific admixture patterns, strongly biased towards European male and African/Native American female ancestries. Our subcontinental ancestry analyses in Cuba highlight the Iberian population as the best proxy European source population, South American and Mesoamerican populations as the closest Native American ancestral component, and populations from West Central and Central Africa as the best proxy sources of the African ancestral component. Finally, we found complex admixture processes involving two migration pulses from both Native American and African sources. Most of the inferred Native American admixture events happened early during the Cuban colonial period, whereas the African admixture took place during the slave trade and more recently as a probable result of large-scale migrations from Haiti