Purpose To determine the relationship between the genotypes of the TaqI polymorphism of VDR gene and the clinical forms of COVID-19 in Cuban patients. Methods TaqI polymorphism was determined by the PCR in 104 Cuban patients, who suffered different clinical forms of COVID-19. Results There was a greater possibility of presenting symptomatic forms [OR = 2.081, 95% CI: 0.243–17.842], even severe [OR = 1.200, 95% CI: 0.217–6.638], related to the tt genotype. Conclusion There are signs of association between the risk of developing COVID-19 and the genotypes of the TaqI polymorphism of the VDR gene in the studied Cuban patients.

Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.

The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.

No abstract

No abstract

COVID-19 has had severe consequences worldwide. It has been estimated that the contribution of genetic factors to the disease is about 50%. The A16974C polymorphism of the IL-12 p40 gene has been described as being related to resistance or susceptibility to other infectious diseases; therefore, it is likely that it can also be related to COVID-19. The objective of this study was to describe the relationship between the A16974C polymorphism of the IL12 p40 gene with clinical forms of COVID-19 in Cuban patients. The genotypes of the A16974C polymorphism of gene IL-12 p40 were determined through PCR in 102 persons with a COVID-19 epidemiologic discharge from the hospital. In this research, the CC genotype of this polymorphism was found only in symptomatic cases of this disease; since there are signs of relationship between the A16974C polymorphism of the IL12 p40 gene with clinical forms of COVID-19 in the studied Cuban patients, the variations of this polymorphism may be a predisposing risk factor in the development of COVID-19.

Introduction: The establishment of strategic alliances for psychopedagogical diagnosis in the postgenomic context and its analysis from the perspective of professional development constitute a challenge. In this sense, it is imperative to apply the latest advances in Biomedical Sciences to evaluate psychopedagogical diagnosis. This reality is evidenced in the work of the Diagnostic and Orientation Center, the result of the research project carried out in collaboration with the Provincial Department of Medical Genetics in Camagüey. Objective: To establish the fundamental links between the postgenomic era and psychopedagogical diagnosis. Methods: A compilation and selection of original scientific articles from the last ten years was carried out by consulting indexed databases such as PubMed, Google Scholar, SciELO, Dialnet, and Redalyc. The terms "strategic alliances," "psychopedagogical diagnosis," and "professional development" were used, and the articles were selected and analyzed according to their content. Results: From epistemology and theory, it was possible to verify the existence of observations that describe necessary aspects to link the advances achieved in the postgenomic era and psychopedagogical diagnosis through qualitative approaches. Conclusions: It is necessary to reshape the Professional Development of the technical advisory team of the Diagnostic and Orientation Center to integrate the most promising advances in genomic sciences due to their impact on current educational systems.

Los trastornos reproductivos son de causa heterogénea. Las aberraciones cromosómicas balanceadas y los polimorfismos cromosómicos en individuos portadores están descritas entre las causas genéticas más reportadas. El objetivo de este trabajo fue describir el hallazgo inusual de una ganancia en la región heterocromática del cromosoma 9, unida a dos bandas de aparente eucromatina en esta región en un hombre con el antecedente de varios años de infertilidad. Se trata de un paciente masculino, de 36 años, que durante 10 años no ha podido procrear; presentando una oligoastenospermia sin otras alteraciones en su estudio clínico. A través del estudio cromosómico convencional en sangre periférica, fue obtenido un cariotipo con 46,XY, 9qh++. La región heterocromática aumentada hallada en uno de sus cromosomas 9 se interpreta como una aparente duplicación, con dos bandas de aparente eucromatina insertadas en ella. La inusual variación observada en el cromosoma 9 de este paciente, sugiere ser la causa del trastorno reproductivo que presenta.