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1.
European Journal of Human Genetics ; 31(Supplement 1):342-343, 2023.
Artículo en Inglés | EMBASE | ID: covidwho-20235570

RESUMEN

Background/Objectives: Runaway inflammation is a key feature of COVID-19. NR3C1 gene encodes for glucocorticoid receptor which plays an important role in inflammation reaction. The variant rs41423247 cause increased glucocorticoid receptors sensitivity. This study aimed to investigate the impact of variants of NR3C1 gene on the course of COVID-19 pneumonia in patients with necessarily artificial lung ventilation. Method(s): The study group included 20 patients (9 women and 11 men) with diagnosis viral COVID-19 pneumonia on artificial lung ventilation at the intensive care unit. All patients underwent daily standard examinations according clinical protocols. Determination of NR3C1 gene variants was carried out by using PCRRFLP. Result(s): There were found the significant negative correlations between NR3C1 gene variants and level of SpO2 (rS = -0.601, p = 0.008), Glasgow Coma Scale score (rS = -0.523, p = 0.026). Also, it was defined a protective effect of genotype CC at risk of development acute respiratory distress syndrome in this patients (chi2 = 4.38, p = 0.037, OR = 0.05 (CI:0.01-0.66)). Conclusion(s): The investigated variant rs41423247 of the NR3C1 gene may be the genetic predictor of complicated course of COVID-19 pneumonia. .

2.
Neonatology, Surgery and Perinatal Medicine ; 12(3):71-76, 2022.
Artículo en Ucraniano | Scopus | ID: covidwho-2254771

RESUMEN

Nearly 6.5 million people have died worldwide from the COVID-19 pandemic. Improvement of pediatric patients survival depends on the continued provision of basic health services to women and children all over the world. The world scientific community must start more scientific clinical investigations and receive more data in order to know the impact of COVID-19 on children's health and mortality, and to ensure that children and adolescents do not die from preventable events. Such trends in the spread of morbidity and mortality from COVID-19 require an interdisciplinary approach as soon as possible to further contain the spread of the disease and prevent complications in order to improve the quality of life. Insufficiently studied molecular changes in lung morpho-biology due to the action of COVID-19 complicate its clinical treatment. An in-depth genetic mechanisms investigation during pathogenetic disorders caused by virus can help in the development of new treatment methods, in particular, the use of surfactant drugs as a component of basic therapy. Recently, it became known that COVID-19-associated lung damage is characterized by typical pathophysiological changes for RDS. Diffuse alveolar damage occurs due to edema of the interstitium, the formation of hyaline membranes, as well as the proliferation of fibroblasts at the stage of recovery. When COVID-19 affects the lungs, surfactant synthesis is dysregulated, as viral proteins suppress the expression of regulatory genes. Changes during the reparation process also lead to loss of surfactant function. Surfactant replacement therapy can be an alternative in the treatment of patients with COVID-19associated lung damage, there are a number of studies that prove the effectiveness of such therapy in other infections. COVID-19 can be especially dangerous for children with chronic lung disease, congenital malformations, previously undiagnosed genetic defects in the surfactant production system. However, timely use of surfactant replacement therapy can prevent one of the worst complications during mechanical ventilation - air leakage syndrome. © Yu.I.Chernyavska, V.I. Pokhylko, Z.I. Rossokha, S.M. Tsvirenko, N.I. Hasiuk, 2022.

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