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Introducción: Desde el comienzo de la enfermedad del coronavirus 2019 en Cuba se observan diferencias de la enfermedad en distintas regiones del país que pudieran explicarse parcialmente a través del polimorfismo TNFα-308A>G. Objetivos: Determinar el grado en que la presencia del polimorfismo -308A>G del gen TNFα influye en la evolución clínica de individuos infectados por el SARS-CoV-2. Método: Se realizó un estudio analítico transversal en el Centro Nacional de Genética Médica, desde junio 2020 hasta junio 2021. Resultados: Los pacientes con presencia del polimorfismo TNFα-308A>G tienen casi dos veces más riesgo de presentar dolor a la respiración, 1.6 veces más riesgo de presentar dolor de garganta. Conclusiones: La presencia del alelo -308.A del gen TNFα aumenta el riesgo de presentar síntomas de COVID-19 en pacientes cubanos infectados con el virus SARS-CoV-2, aunque no hay evidencia de un mayor riesgo de desarrollar formas graves de la enfermedad en individuos portadores del alelo -308.A en comparación con sujetos que no lo portan. El alelo TNFα.-308A aumenta el riesgo de desarrollar síntomas y presentar formas severas de COVID-19 en la región oriental del país.

Introduction: Since the beginning of coronavirus disease 2019 in Cuba, differences have been observed in the disease that could be partially explained by the TNFα-308A>G polymorphism. Objective: To determine the degree to which the presence of the -308A>G polymorphism of the TNFα gene influences the clinical evolution of individuals infected with SARS-CoV-2. Method: A cross-sectional analytical study was carried out at the National Center for Medical Genetics, from June 2020 to June 2021. Results: Patients with the presence of the TNFα-308A>G polymorphism have almost two times more risk of presenting pain when breathing, 1.6 times more risk of presenting sore throat. Conclusions: The presence of the -308.A allele of the TNFα gene increases the risk of presenting symptoms of COVID-19 in Cuban patients infected with the SARS-CoV-2 virus, although there is no evidence of an increased risk of developing severe forms of the disease. disease in individuals carrying the -308.A allele compared to subjects who do not carry it. The TNFα.-308A allele increases the risk of developing symptoms and presenting severe forms of COVID-19 in the eastern region of the country.

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INTRODUCTION: COVID-19 sequelae, or the short-, medium-, and long-term manifestations of the disease are under continuous study. There are currently few reports on the evolution of hematological variables following a demonstrated absence of SARS-CoV-2 after infection. OBJECTIVE: Identify hematological alterations in Cuban adults recovered from SARS-CoV-2 infection, and their relation with disease severity. METHODS: We selected 348 persons recovered from COVID-19 residing in Havana, Cuba with an RT-PCR study negative for SARS-CoV-2 performed two weeks after hospital discharge; a structured survey was administered to obtain clinical-epidemiological data. Three groups were established according to COVID-19 clinical criteria: asymptomatic, mild/moderately symptomatic, and severely symptomatic, which, in turn, were divided according to hospital discharge date and blood sample collection date. We performed hemograms with differential leukocyte counts and compared results among groups. We then measured the associations between hematological variables, personal medical history, and relevant lifestyle habits (smoking). RESULTS: All hematological variables were within normal reference limits, although men from the group of severely ill patients had increased total leukocytes, neutrophils and lymphocytes, and decreased hemoglobin and eosinophils, which was also evident in those with a recovery time of 31-90 days. CONCLUSIONS: The relation between hematological variables and degree of clinical severity offers evidence as to persistence of systemic alterations (possibly inflammatory) associated with viral infection. Their identification and characterization can facilitate personalized patient followup and rehabilitation.

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Background: Tumor necrosis factor-alpha (TNFɑ) is a cytokine that manages the host defense mechanism, which may play a role in the pathogenesis of COVID-19 patients. Several single-nucleotide polymorphisms, described in the promoter region of the TNFα gene, have a significant role on its transcriptional activity. These include the - 308A > G polymorphism which increases the TNFα levels with the expression of the A allele. The aim of this study was to explore whether the TNFα.- 308A > G polymorphism affects the clinical state of COVID-19 patients. The study included a total of 1028 individuals infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which were distributed in 3 groups: asymptomatic, mild symptomatic and severe symptomatic patients. The amplification-refractory mutation system was used to determine the genotype of the TNFα.- 308A > G polymorphism. Results: Results show a higher tendency of being asymptomatic in individuals carrying the GG genotype (336 of 411; OR 1.24, 95% CI 0.91-1.70). The development of a severe form of SARS-CoV-2 infection was not found in subjects with the A allele compared to those with the G allele (OR 0.96, 95% CI 0.51-1.79), except in the eastern region of the country where the risk increased (OR 4.41, 95% CI 1.14-17.05). However, the subjects carrying the A allele had a higher chance of developing symptoms (OR 1.24, 95% CI 0.91-1.70) compared to those with the G allele. Conclusion: The TNFα.- 308A allele has an influence on developing symptoms of COVID-19 in Cuban patients, and that it particularly increases the risk of presenting severe forms of the disease in the eastern region of the country.

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Introducción: La COVID-19 tiene el potencial de impactar en cualquier grupo poblacional, sin embargo, los adultos mayores presentan un peor pronóstico y una mayor tasa de mortalidad. Objetivo: Caracterizar las variables clínico-epidemiológicas de los adultos mayores con SARS-CoV- 2 en los primeros tres meses de epidemia en Cuba. Métodos: Se realizó un estudio observacional, de corte transversal, en pacientes cubanos con 60 años y más, de alta epidemiológica de la infección por SARS-CoV-2, entre el 11 de marzo y 11 de junio de 2020. Se aplicó un cuestionario con variables clínicas y sociodemográficas. Los análisis estadísticos se realizaron utilizando el paquete estadístico SPSS 22.0. Resultados: Se estudiaron 241 pacientes, el 52,3 por ciento presentó síntomas leves o moderados. Se apreció un incremento de la edad media desde los asintomáticos a los graves. El grupo sanguíneo O (46,1 por ciento fue el más frecuente; sin embargo, los del grupo A mostraron un riesgo mayor de desarrollar síntomas. Las enfermedades asociadas más comunes fueron hipertensión arterial, enfermedades cardiovasculares y diabetes mellitus. La fiebre, tos seca y dificultad respiratoria fueron los síntomas más frecuentes. Conclusiones: Los pacientes con grupo sanguíneo A, hipertensos y con enfermedades cardiovasculares asociadas presentaron un mayor riesgo de padecer formas sintomáticas. La vulnerabilidad de los adultos mayores no solo se deriva de la edad, sino también de las enfermedades crónicas asociadas, por lo cual resulta imprescindible la protección de este grupo poblacional(AU)

Introduction: COVID-19 has the potential to impact any population group, however, older adults have a worse prognosis and a higher mortality rate. Objective: Characterize the clinical-epidemiological variables of older adults with SARS-CoV-2 in the first three months of the epidemic in Cuba. Methods: An observational cross-sectional study was conducted in Cuban patients aged 60 years and older, with epidemiological discharge of SARS-CoV-2 infection, between March 11 and June 11, 2020. A questionnaire with clinical and sociodemographic variables was applied. Statistical analyses were performed using the SPSS 22.0 statistical package. Results: 241 patients were studied, 52.3 percent presented mild or moderate symptoms. There was an increase in average age from asymptomatic to severe. Blood group O (46.1percent) was the most frequent; however, those in group A showed an increased risk of developing symptoms. The most common associated diseases were high blood pressure, cardiovascular disease and diabetes mellitus. Fever, dry cough and shortness of breath were the most frequent symptoms. Conclusions: Patients with blood group A, hypertensive patients and associated cardiovascular diseases presented an increased risk of suffering from symptomatic forms. The vulnerability of older adults comes not only from their age, but also from associated chronic diseases, which is why the protection of this population group is essential(AU)

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BACKGROUND: As a first step towards a vaccine protecting COVID-19 convalescents from reinfection, we evaluated FINLAY-FR-1A vaccine in a clinical trial. METHODS: Thirty COVID-19 convalescents aged 22-57 years were studied: convalescents of mild COVID-19, asymptomatic convalescents, both with PCR-positive at the moment of diagnosis; and individuals with subclinical infection detected by viral-specific IgG. They received a single intramuscular injection of the FINLAY-FR-1A vaccine (50 µg of the recombinant dimeric receptor binding domain). The primary outcomes were safety and reactogenicity, assessed over 28 days after vaccination. The secondary outcome was vaccine immunogenicity. Humoral response at baseline and following vaccination was evaluated by ELISA and live-virus neutralization test. The effector T cellular response was also assessed. Cuban Public Registry of Clinical Trials, WHO-ICTRP: https://rpcec.sld.cu/en/trials/RPCEC00000349-En. FINDINGS: No serious adverse events were reported. Minor adverse events were found, the most common, local pain: 3 (10%) and redness: 2 (6·7%). The vaccine elicited a >21 fold increase in IgG anti-RBD antibodies 28 days after vaccination. The median of inhibitory antibody titres (94·0%) was three times greater than that of the COVID-19 convalescent panel. Virus neutralization titres higher than 1:160 were found in 24 (80%) participants. There was also an increase in RBD-specific T cells producing IFN-γ and TNF-α. INTERPRETATION: A single dose of the FINLAY-FR-1A vaccine against SARS-CoV-2 was an efficient booster of pre-existing natural immunity, with excellent safety profile. FUNDING: Partial funding for this study was received from the Project-2020-20, Fondo de Ciencia e Innovación (FONCI), Ministry of Science, Technology and the Environment, Cuba.   RESUMEN. ANTECEDENTES: Como un primer paso hacia una vacuna que proteja a los convalecientes de COVID-19 de la reinfección, evaluamos la vacuna FINLAY-FR-1A en un ensayo clínico. MÉTODOS: Se estudiaron treinta convalecientes de COVID-19 de 22 a 57 años: convalecientes de COVID-19 leve y convalecientes asintomáticos, ambos con prueba PCR positiva al momento del diagnóstico; e individuos con infección subclínica detectada por IgG específica viral. Los participantes recibieron una dosis única por vía intramuscular de la vacuna FINLAY-FR-1A (50 µg del dominio de unión al receptor recombinante dimérico del SARS CoV-2). Las variables de medida primarias fueron la seguridad y la reactogenicidad, evaluadas durante 28 días después de la vacunación. La variable secundaria, la inmunogenicidad. La respuesta humoral, al inicio del estudio y después de la vacunación, se evaluó por ELISA y mediante la prueba de neutralización del virus vivo. También se evaluó la respuesta de células T efectoras. Registro Público Cubano de Ensayos Clínicos, WHO-ICTRP: https://rpcec.sld.cu/en/trials/RPCEC00000349-En. RESULTADOS: No se reportaron eventos adversos graves. Se encontraron eventos adversos leves, los más comunes, dolor local: 3 (10%) y enrojecimiento: 2 (6·7%). La vacuna estimuló un incremento >21 veces de los anticuerpos IgG anti-RBD 28 días después de la vacunación. La mediana de los títulos de anticuerpos inhibidores (94·0%) fue aproximadamente tres veces mayor que la del panel de convalecientes de COVID-19. Se encontraron títulos de neutralización viral superiores a 1:160 en 24 (80%) de los participantes. También hubo un aumento en las células T específicas de RBD que producen IFN-γ y TNF-α. INTERPRETACIÓN: Una sola dosis de la vacuna FINLAY-FR-1A contra el SARS-CoV-2 reforzó eficazmente la inmunidad natural preexistente, con un excelente perfil de seguridad. FINANCIAMIENTO: Se recibió un financiamiento parcial del Proyecto-2020-20, Fondo de Ciencia e Innovación (FONCI), Ministerio de Ciencia, Tecnología y Medio Ambiente, Cuba.

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Introducción: La Habana fue el territorio más complejo a nivel nacional en el enfrentamiento al primer brote de la COVID-19. Su condición de capital, la densidad poblacional, la escasa delimitación geográfica entre sus municipios, el elevado flujo intermunicipal e interprovincial de personas, sumado a que es la provincia que mayor número de viajeros recibe procedentes del extranjero, confirieron a este territorio particularidades en el enfrentamiento a la pandemia. Objetivo: Determinar las principales características clínico-epidemiológicas de pacientes cubanos residentes en La Habana afectados por la COVID-19. Métodos: Se realizó un estudio observacional, analítico, de corte transversal. La muestra quedó formada por 431 pacientes, mayores de un año, de alta epidemiológica de la infección por SARS-CoV-2. Para la recolección de información se aplicó un cuestionario a través de una entrevista. Resultados: La edad promedio de la muestra fue de 45 años. Más de la mitad de los casos evolucionaron de modo sintomático (no grave o grave). La fiebre fue la manifestación clínica más frecuente. Los individuos incluidos en la muestra, con grupo sanguíneo O, o con antecedentes de asma, mostraron menos riesgo de presentar formas sintomáticas de la enfermedad. Conclusiones: Los resultados sugieren que la edad constituye el principal factor de riesgo para desarrollar formas sintomáticas (no graves o graves) de la COVID-19. De modo contrario, el grupo sanguíneo O y el antecedente de asma son factores de protección para estas formas de evolución clínica(AU)

Introduction: Havana city was the most complex territory at the national level facingthe first outbreak of COVID-19. Its condition of capital, the population density, the limited geographical delimitation between its municipalities, the high inter-municipal and inter-provincial flow of people, added to the fact that it is the province that receives the largest number of travelers from abroad, conferred particularities on this territory. Objective: To determine the main clinical-epidemiological characteristics of patients affected by COVID-19 living in Havana. Methods: An observational, analytical, cross-sectional study was carried out. The sample contained 431 patients, older than one year, with epidemiological discharge from the SARS-CoV-2 infection. To collect information, a questionnaire was applied through an interview. Results: The average age of the sample was 45 years. More than half of the cases evolved in a symptomatic way (not serious or serious). Fever was the most frequent clinical manifestation. The individuals included in the sample, with blood group O or with a background of asthma, showed less risk of presenting symptomatic forms of the disease. Conclusions: The results suggest that age is the main risk factor for developing symptomatic forms (not severe or severe) of COVID-19. On the contrary, blood group O and a history of asthma are protective factors for these forms of clinical evolution(AU)

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Introducción: El asesoramiento genético constituye el proceso central en el manejo de trastornos de causa genética, de ahí la importancia de evaluar su efectividad. Objetivo: Evaluar la efectividad y aspectos éticos del asesoramiento genético en Cuba. Métodos: Se realizó un estudio observacional - descriptivo - retrospectivo de 2003 a 2013, que consistió en la realización de entrevistas, basadas en instrumentos diseñados y validados, a familias atendidas en los servicios de asesoramiento genético y a otros ciudadanos, la muestra quedó constituida por 13 142 individuos. Resultados: El nivel de conocimientos adquiridos fue bueno en 71,1 por ciento de los participantes; predominaron las decisiones muy racionales (68,4 por ciento); en 74,9 por ciento de las familias se logró un buen ajuste en relación con la situación particular. Existe en la población una elevada satisfacción con los servicios de asesoramiento genético (89,8 por ciento). La mayoría considera la prevención secundaria de enfermedades el objetivo más prioritario de la genética médica (81,3 por ciento), 93 por ciento está de acuerdo con el aborto selectivo como opción reproductiva ante el diagnóstico de enfermedades genéticas graves y de inicio precoz, y 76,5 por ciento prefiere el enfoque no directivo del asesoramiento genético. Conclusiones: El asesoramiento genético que se ofrece en los servicios de genética médica de Cuba es efectivo, satisface las expectativas de la población y cumple con principios éticos universalmente aceptados. La metodología diseñada y aplicada, basada en la organización de los servicios de genética en Cuba, permite la evaluación sistemática del asesoramiento genético, lo que propicia su mejoramiento y la posibilidad de trazar estrategias locales para aumentar su eficacia y alcanzar su excelencia(AU)

Introduction: Genetic counseling is the central process in the management of genetic disorders, hence the importance of assessing its effectiveness. Objective: Assess the effectiveness and ethical aspects of genetic counseling in Cuba. Methods: An observational - descriptive - retrospective study was conducted from 2003 to 2013, which consisted of conducting interviews based on instruments designed and validated with families assisted in genetic counseling services and other citizens; the sample consisted of 13 142 individuals. Results: The level of knowledge acquired was good in 71.1 percent of the participants; very rational decisions predominated (68.4 percent); in 74.9 percent of the families a good adjustment was achieved in relation to the particular situation. The population is highly satisfied with the genetic counselling services (89.8 percent). Most consider secondary diseases prevention to be the top priority for medical genetics (81.3 percent), 93 percent agree with selective abortion as a reproductive option after a diagnosis of serious and early-onset genetic diseases, and 76.5 percent prefer the non-directive approach to genetic counseling. Conclusions: The genetic counseling offered in the medical genetics services of Cuba is effective, satisfies the expectations of the population and complies with universally accepted ethical principles. The methodology designed and applied, based on the organization of genetic services in Cuba, allows the systematic assessment of genetic counseling, which males possible their improvement and the chance of devising local strategies to increase their effectiveness and achieve excellence in the service(AU)

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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 ago1-3. 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.

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Introducción: Las manifestaciones clínicas en niños afectados por el SARS-CoV-2 suelen ser más leves, un número reducido evoluciona hacia la gravedad y se producen pocas muertes en comparación con otros grupos de edad. Objetivo: Caracterizar desde el punto de vista clínico, epidemiológico e inmunológico a los pacientes pediátricos en Cuba infectados por SARS-CoV-2 a partir del 11 de marzo de 2020 y que se encontraban de alta epidemiológica el 11 de junio del mismo año. Métodos: Estudio observacional, de corte transversal en 137 pacientes en edad pediátrica infectados por la COVID-19, que se encontraban de alta epidemiológica. Resultados: Presentaron forma asintomática de la enfermedad 56,9 por ciento. La Habana fue la provincia más afectada y la edad promedio de 11,3 años. Los síntomas más frecuentes fueron: fiebre, tos y diarreas y se presentaron con mayor frecuencia en pacientes de color de piel negra (Odd Ratio= 3,40). Las concentraciones de anticuerpos para tétano y Haemophilus influenzae tipo b proporcionaron protección entre 92,7 y 100 por ciento de los niños, mientras que para la difteria 24,8 por ciento no tuvo protección confiable. De los sintomáticos, 62,5 por ciento desarrollaron anticuerpos totales específicos frente al SARS-CoV-2. Conclusiones: Los pacientes en edades pediátricas pueden contribuir de manera importante a la dinámica de la transmisión. La protección confiable para vacunas específicas, el desarrollo de anticuerpos totales frente a SAR-Cov-2 y el pronóstico general favorable sin complicaciones, obliga a continuar las investigaciones para identificar las diferencias biológicas e inmunológicas entre niños y otros grupos de edad(AU)

Introduction: Until June 11, 2020, 10.4 percent of the total positive cases of SARS-CoV-2 in Cuba corresponded to patients under 18 years of age. Clinical manifestations in children affected by SARS-CoV-2 are usually mild and few deaths occur compared to other age groups. Objective: Characterize from the clinical, epidemiological and immunological point of view the Cuban pediatric patients infected by SARS-CoV-2 until June 11, 2020. Methods: Observational, cross-sectional study in 137 pediatric patients infected with COVID-19, who were epidemiologically discharged. Results: 56.9 percent of the patients presented asymptomatic form of the disease. Havana was the most affected province and the average age was 11.3 years. The most frequent symptoms were: fever, cough and diarrhea and occurred more frequently in patients with black skin (Odd Ratio = 3.40). Antibody concentrations for tetanus and Haemophilus influenzae type b provided protection in 92.7 percent to 100 percent of children, while for diphtheria 24.8 percent had no reliable protection. Of the symptomatic patients, 62.5 percent developed specific total antibodies against SARS-CoV-2. Conclusions: Patients in pediatric ages can contribute significantly to the transmission dynamics. Reliable protection for specific vaccines, the development of total antibodies to SAR-Cov-2, and general favorable prognosis without complications require continued research to identify biological and immunological differences between children and other age groups(AU)

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RESUMEN Fundamento: la medicina personalizada integra los datos de las tecnologías ómicas con el conjunto de datos clínicos del paciente para una atención adaptada a sus características individuales. Objetivo: explorar los conocimientos y opiniones de estudiantes de segundo año de la carrera de Medicina en relación con las tecnologías ómicas y la medicina personalizada. Métodos: se realizó un estudio exploratorio, cuanticualitativo en la Universidad de Ciencias Médicas de Las Tunas durante el segundo semestre del curso académico 2018-2019. Se aplicaron métodos teóricos para la fundamentación: análisis-síntesis e inductivo-deductivo; entre los empíricos una prueba de conocimientos y una encuesta en forma de cuestionario para la recogida de la información; y la estadística descriptiva para los valores en cifras. Resultados: el 17,2 % de los estudiantes definió correctamente en qué consiste la edición del genoma, y 10,3 % lo hizo para la secuencia. Solo uno pudo mencionar un medicamento con implicaciones farmacogenéticas. Ninguno refirió saber sobre bases de datos biológicos ni leyes que regulen los estudios del genoma humano. Genética Médica fue la asignatura que ofreció mayor tratamiento a los contenidos relacionados con estos temas. La mayoría de los estudiantes estuvo a favor de la manipulación del genoma para tratar las enfermedades e informar los hallazgos que se relacionen con la salud. Conclusiones: se corroboró que es bajo el nivel de conocimientos en los estudiantes de segundo año de Medicina en relación con las tecnologías ómicas y la medicina personalizada.

ABSTRACT Background: personalized medicine integrates the data of the omic technologies with the set of clinical data of the patient for a care adapted to their individual characteristics. Objective: to explore the knowledge and opinions of second-year students of the medical degree in relation to omic technologies and personalized medicine. Methods: an exploratory, quantitative study was carried out at Las Tunas University of Medical Sciences during the second semester of the 2018-2019 academic year. Theoretical methods for the foundation were applied: analysis-synthesis, and inductive-deductive; among the empirical ones a knowledge test and a survey in questionnaire form for the collection of the information; and descriptive statistics for values in figures. Results: 17.2% of the students correctly defined what the genome edition is, and 10.3% did it for the sequence. Only one could mention a drug with pharmacogenetic implications. None reported knowing about biological databases or laws regulating studies of the human genome. Medical Genetics was the subject that gave the most treatment to the contents related to these topics. The majority of the students were in favor of genome manipulation to treat diseases and report findings that are related to health. Conclusions: the low level of knowledge on omic technologies and personalized medicine in second year students of Medicine was confirmed.

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Introducción: La infertilidad afecta entre 15 y 20 (percent) de parejas en edad fértil. Una de cada seis parejas no logra alcanzar el completo estado de bienestar físico, mental y social. Es un problema común y experimenta un incremento en su prevalencia.Objetivo: Sistematizar información actualizada sobre la epidemiología, prevención, diagnóstico y tratamiento de la infertilidad.Métodos: Se realizó una búsqueda en los idiomas español e inglés, mediante el uso en línea de recursos de las bases de datos consultadas: PubMed-Medline,LILACS, LIS y Google Académico.Análisis y síntesis de la información: El estudio de la pareja infértil se enfoca considerando diferentes factores causales: ovulatorio, utero-tubárico-peritoneal, migración espermática, factor masculino, inmunológicos y genéticos. Cerca de 40(Percent) de todas las parejas infértiles presentan una combinación de factores y aproximadamente en el 10(Percent) no se identifica una alteración que permita realizar un diagnóstico. En 55(Percent) de las parejas existe un único factor como causa de la infertilidad.Conclusiones: Las infecciones de transmisión sexual, complicaciones del aborto, obesidad y hábitos tóxicos, son causas de infertilidad prevenibles mediante promoción de conductas saludables. Avances recientes en los campos de la genética y la inmunología abren nuevas posibilidades para la atención de la infertilidad de causa inexplicada. El tratamiento de la infertilidad con frecuencia requiere el uso de técnicas de reproducción asistida complejas, costosas y no siempre eficaces; el empleo de modelos de predicción de éxito del tratamiento mejora su efectividad. En Cuba existen servicios regionalizados, de acceso universal, con tecnología de avanzada para la atención integral de la infertilidad…(AU)

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Introducción: El gen CYP2D6 codifica la proteína de igual nombre, enzima principal del complejo de citocromos P-450 en la fase I del metabolismo de muchos medicamentos ampliamente usados en la práctica clínica, entre los que se encuentran los neurolépticos. Las variantes alélicas que implican una función nula de esta enzima: *3, *4, *5, y *6, predicen entre el 93-97,5(percent) de los posibles fenotipos metabolizadores lentos, que implican acumulación de concentraciones tóxicas y, por consiguiente, mayor riesgo de reacciones adversas. Por otro lado, hay estudios que reportan una baja frecuencia de metabolizadores lentos en pacientes con esquizofrenia. Objetivo: Evaluar la asociación entre las variantes no funcionales del gen CYP2D6 con la esquizofrenia en pacientes cubanos. Métodos: Se realizó un estudio de casos y controles. En el grupo de los casos se incluyeron 212 pacientes con esquizofrenia, y en los controles 326 voluntarios sanos. Resultados: Las frecuencias de los alelos CYP2D6 con actividad enzimática nula fueron similares entre los casos y los controles. No se detectó una diferencia estadísticamente significativa de metabolizadores lentos entre los pacientes con esquizofrenia ni en los voluntarios sanos…(AU)

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El factor de necrosis tumoral alfa (TNFα) es una citoquina proinflamatoria en cuyo gen se ha notificado el polimorfismo -308A>G. No existen informes genéticos poblacionales de esta variante en Cuba, que permitan caracterizar los perfiles inmunogenéticos a nivel molecular para su aplicación en estudios de asociación alélica. Objetivos: Describir las frecuencias génicas y genotípicas del polimorfismo TNFα (-308A>G) en la población cubana. Métodos: Se realizó un estudio observacional, descriptivo, transversal, entre octubre de 2017 y marzo de 2018, en 162 neonatos cubanos, de ambos sexos y sanos, para el pesquisaje neonatal de enfermedades metabólicas, cuyas muestras biológicas se conservaban en el banco de ADN del Centro Nacional de Genética Médica. La caracterización molecular de los genotipos fue realizada mediante un PCR-ARMS. Se utilizó el software GENEPOP 4.4 y el paquete estadístico STATISTICA 8.0 para el análisis de genética poblacional. Resultados: La población estudiada no se ajustó al modelo de equilibrio de Hardy Weinberg para el gen evaluado. Las frecuencias génicas estimadas para el polimorfismo TNFα (-308A>G) fueron de 0,09 para el alelo A y de 0,91 para…(AU)

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Introduction: Psychiatric genetic research has seen progress in identifying genetic risk variants associated with major mental disorders. Testing with preventive purposes is likely to be offered to high-risk individuals in the near future. It is important that genetic testing and counseling align with the interests of the patients, and these interests are likely to vary among countries and cultures. Aim: The present study aimed to compare the attitudes toward psychiatric genetic research and genetic testing in Denmark and Cuba. Materials and Methods: A survey, culturally adapted for each country, was administered to a pool of students, patients with depression, and the closest relatives of these patients. A total of 491 stakeholders from Denmark and 720 from Cuba were included in the study. Results: Significant differences between the two populations were found for general knowledge about psychiatric genetic research, whom to offer genetic testing, and to whom to entrust with psychiatric genetic information. Cuban stakeholders were more likely to feel uncomfortable about psychiatric genetic research than the Danish stakeholders. This difference might be driven by the characteristics of the health systems, sociocultural factors, and lower genetic literacy in the Cuban population. Conclusion: This study is the first to compare attitudes toward psychiatric genetic testing between a Latin American country and a Nordic country. The results reported could be valuable when designing general guidelines for psychiatric genetic testing in the future.

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Introducción: La introducción de las tecnologías ómicas en la práctica clínica requiere que los profesionales de la salud incorporen conocimientos al respecto. Objetivo: Evaluar los conocimientos sobre tecnologías ómicas de los médicos que inician los estudios de especialidad en el nivel secundario de atención médica. Métodos: Se aplicó un cuestionario a 53 profesionales de la salud, quienes comenzaron sus residencias médicas, tanto clínicas como quirúrgicas, en el Hospital General Docente "Dr. Ernesto Guevara de la Serna" de Las Tunas, Cuba. Se indagó por cuestionario y de forma anónima acerca del conocimiento sobre las pruebas de biología molecular, genéticas y farmacogenéticas, la secuenciación del genoma y las bases de datos de información biológica disponibles en internet. Resultados: El 37,7 por ciento de los participantes no conocía acerca de las pruebas de biología molecular y solo el 3,8 por ciento refirió saber sobre la secuenciación de nueva generación. Aunque el 90,6 por ciento de los interrogados estaban al tanto de alguna prueba genética, ninguno pudo mencionar una correctamente. Solo el 20,8 por ciento declaró su conocimiento de algún gen de susceptibilidad a enfermedades. La posibilidad de secuenciar el genoma completo fue reconocida por el 49,1 por ciento de la muestra. El 90,6 por ciento de los encuestados manifestó interés en recibir información al respecto. Conclusiones: Existe un insuficiente conocimiento sobre las tecnologías ómicas en los participantes en la investigación. Se requiere capacitar a los profesionales de la salud para enfrentar la introducción de la medicina genómica en la práctica clínica, lo que puede y debe hacerse desde la formación médica inicial(AU)

Introduction: The introduction of omic technologies into the clinical practice requires that health professionals incorporate knowledge in this field. Objective: To assess the knowledge about omic technologies of the physicians who are starting their specialty studies in the secondary level of healthcare. Methods: A questionnaire was conducted on 53 health professionals who started their medical residences, both clinical and surgical, at Dr. Ernesto Guevara de la Serna General Teaching Hospital in Las Tunas, Cuba. Both anonymously and by means of the questionnaire, inquiries were made regarding the knowledge about tests in the fields of molecular biology, genetics and pharmacogenetics, about genome sequencing, and about the biological information databases available on the internet. Results: 37.7 percent of the participants did not know about molecular biology tests and only 3.8 percent reported to have some knowledge about next generation sequencing. Although 90.6 percent of the respondents were aware of some genetic test, none could mention one correctly. Only 20.8 percent declared their knowledge about some disease-susceptibility genes. The possibility of sequencing the entire genome was recognized by 49.1 percent of the sample; 90.6 percent of respondents expressed some interest in receiving information about it. Conclusions: There is insufficient knowledge about omic technologies in the research participants. It is required to train health professionals to face the introduction of genomic medicine into the clinical practice, which can and should be done from the beginning ofthe medical training(AU)

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Sickle cell anemia is the most common hereditary disease in Cuba. On average, 1 in 33 Cubans is a carrier of this severe hemolytic anemia that can cause early death. In early 1980, its incidence in Cuba was calculated at 1 in 1600 births. In 1982, the Cuban public health system established the Sickle Cell Anemia Prevention Program, which aims to prevent the disease through identification of carrier couples and antenatal diagnosis of fetuses with disease-associated genotypes. In 1982-2018, hemoglobin genotypes were tested in 4,847,239 pregnant women. Of these, 168,865 (3.5%) were found to be carriers or to have sickle cell disease. During the same period, 8180 at-risk couples were identified, of whom 79.2% agreed to an antenatal study for detection of the sickle cell gene in the fetus. Among fetuses diagnosed, 20.1% had the SS genotype, the most clinically severe; 76.2% of the associated couples decided to interrupt the pregnancy. This program has resulted in a 3-fold reduction in prevalence of sickle cell disease in Cuba, a 10-fold reduction in the number of infants born with it each year, and a 16-year average increase in life expectancy of sickle cell disease patients of both sexes. Key contributors to these results have been universal screening of pregnant women in primary care, installation of diagnostic laboratories in every province, genetic counseling for couples, testing of fetal DNA (allowing couples to decide whether to continue the pregnancy if the fetus tests positive for the disease) and guaranteed multidisciplinary clinical care for patients. The Cuban experience shows that a middle-income country can mitigate the impact of a genetic disease through a universal preventive program based in primary care, which also pays particular attention to afflicted patients. KEYWORDS Sickle cell anemia, sickle cell disease, sickle cell disorders, hemolytic anemia, sickle cell trait, sickle cell hemoglobin C disease, HbS disease, prevention, antenatal screening, preventive health services, Cuba.

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The region surrounding the Caribbean Sea is predominantly composed of island nations for its Eastern part and 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.

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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.

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Cuba 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.

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