The role of tumor necrosis factor alpha - 308A > G polymorphism on the clinical states of SARS-CoV-2 infection.

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.

Detección de hemoglobinopatías en gestantes cubanas del programa: Anemias por Hematíes Falciformes en Cuba

Fundamento: La detección prenatal de hemoglobinopatías en Cuba se realiza a todas las gestantes en la atención Primaria de Salud, a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar el tipo y frecuencia de hemoglobinopatías en gestantes cubanas. Método: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar el tipo de hemoglobinopatías en 1 342 917 gestantes captadas en un periodo de diez años. El método de pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación por electroforesis de hemoglobina en gel de agarosa a pH ácido, ambos métodos mediante el equipo Hydrasys 2. Resultados: La frecuencia global de gestantes con hemoglobinopatías fue de 3,5 %. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El programa alcanzó 99,24 % de cobertura en el país. Conclusiones: La detección de las hemoglobinopatías en gestantes residentes en Cuba, permitió conocer el tipo de hemoglobinopatía y la frecuencia de hemoglobinas anormales y nuevas variantes, de ahí el interés de continuar el programa de pesquisa para prevenir la aparición de formas graves de la enfermedad.

Foundation: Prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Primary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the request of couples. Objective: Determine the type and frequency of hemoglobinopathies in Cuban pregnant women. Method: A descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research method was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemoglobin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. Results: The overall frequency of pregnant women with hemoglobinopathies was 3.5%. Hemoglobinopathies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24% coverage in the country. Conclusions: The detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the interest in continuing the research program to prevent the appearance of severe forms of the disease.

Caracterización de la infección por SARS-CoV-2 en adultos mayores de Cuba, marzo-junio 2020 / Characterization of SARS-CoV-2 infection in older adults in Cuba, March-June 2020

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)

Vena umbilical drenando directamente a la aurícula derecha: Informe de un caso

RESUMEN La agenesia de ductus venoso es una afección infrecuente asociada con resultados perinatales adversos. Se presenta el caso de un feto con 23,4 semanas estudiado en el servicio de Cardiología Fetal del Cardiocentro Pediátrico William Soler, donde se le realizó estudio ecocardiográfico que demostró la presencia de cardiomegalia con predominio de cavidades derechas en la vista transversal de cuatro cámaras y, al realizar un corte longitudinal del feto, con uso del Doppler color superpuesto a la imagen bidimensional, se definió el recorrido de la vena umbilical drenando directamente en la aurícula derecha. Al recién nacido se le realizó una tomografía y se diagnosticó la presencia de defectos digestivos congénitos. Ante la sospecha de ausencia de ductus venoso resulta importante precisar la variante de drenaje, identificar «microarreglos» y buscar malformaciones estructurales y enfermedades genéticas, ya que el pronóstico dependerá de todos estos factores.

ABSTRACT The ductus venosus agenesis is a rare condition associated with adverse perinatal outcomes. We present the case of a fetus of 23.4 weeks that was studied at the Department of Fetal Cardiology in the Cardiocentro Pediátrico William Soler. The four-chamber cross-sectional view echocardiogram showed cardiomegaly with a predominance of right chambers. After performing a longitudinal section of the fetus by color Doppler superimposed on the two-dimensional image, we could trace the course of the umbilical vein draining directly into the right atrium. The newborn underwent a CT scan and the presence of congenital digestive defects was diagnosed. In the case of suspected absence of ductus venosus it is important to determine the drainage variant, identify "microarrays", and look for structural malformations and genetic diseases since prognosis will depend on all these factors.