The role of functional single nucleotide polymorphisms of the human glucocorticoid receptor gene NR3C1 in Polish patients with bronchial asthma

N363S and ER22/23EK polymorphisms observed within glucocorticoid receptor gene (NR3C1) may play an important role in the development of bronchial asthma. NR3C1 gene is associated with an altered sensitivity to GCs. The aim of the research project was to study the correlation between this NR3C1 gene polymorphisms and occurrence of asthma in the population of Polish asthmatics. Peripheral blood was obtained from 207 healthy volunteers and 221 asthma patients. Genotyping was carried out with PCR-RFLP method. In the groups of patients with uncontrolled moderate asthma and uncontrolled severe disease, the genotype distribution for the investigated polymorphisms was as follows: N363S-AA, AG, GG occurring with 0.881/0.073/0.046 frequency and ER22/23EK-GG, GA, AA occurring with 0.963/0.037/0.000 frequency. Chi-square analysis revealed a significantly different (P < 0.05) distribution between cases and controls for the N363S polymorphisms. The N363S polymorphism of NR3C1 gene is significantly associated with bronchial asthma, susceptibility to the development of moderate to severe form of uncontrolled bronchial asthma

The Bcl I single nucleotide polymorphism of the human glucocorticoid receptor gene h-GR/NR3C1 promoter in patients with bronchial asthma: pilot study

Bcl I in the promoter polymorphism observed within h-GR/NR3C1 gene may play an important role in the development of bronchial asthma and resistance to GCs in the severe bronchial asthma. The aim of the investigation was to study the correlation between this h-GR/NR3C1 gene polymorphism and occurrence of asthma in the population of Polish asthmatics. Peripheral blood was obtained from 70 healthy volunteers and 59 asthma patients. Structuralized anamnesis, spirometry and allergy skin prick tests were performed in all participants. Genotyping was carried out with PCR–RFLP method. In healthy, non-atopic population variants of Bcl I: GG, GC, CC were found with frequency 0.129/0.471/0.400, respectively. In asthma patients Bcl I: GG, GC, CC occurred with respective frequencies of 0.410/0.462/0.128. Chi-square analysis revealed a significantly different (P < 0.05) distribution between cases and controls for the Bcl I polymorphism. The Bcl I polymorphism of h-GR/NR3C1 gene is significantly associated with bronchial asthma, susceptibility to the development of severe form and resistance to GCs in Polish population

Predictors of COVID-19 outcomes in adult congenital heart disease patients — anatomy versus function

Background: It is unclear whether patients with adult congenital heart disease (ACHD) should be considered as an increased risk population with poor outcomes when suffering from COVID-19.Aims: This study aimed to collect clinical outcome data and to identify risk factors of a complicated course of COVID-19  among ACHD patients.Methods: Among all outpatients who came to medical attention via telemedicine or direct physician contact at our institution between September 1, 2020 and March 31, 2021, we included all with a COVID-19 diagnosis. The incidence of COVID-19, a clinical course of the disease, and outcome were determined. Results: One hundred and four (8.7%) out of 1 197 patients who were seen at our outpatient clinic for ACHD patients met the definition of COVID-19. Most of them reported a mild course of COVID-19 (99 [95.5%]). Five patients (4.5%) experienced severe symptoms and needed hospitalization. Two patients (1.9% of all with a confirmed diagnosis, 40% with severe infection) died. In the multivariable analysis, decreased systemic ventricular systolic function and any significant valve stenosis were predictors of a complicated disease course. Conclusions: Our study confirmed previous results showing that a physiology-based model, rather than an anatomy-based model, better predicted COVID-19 outcomes among ACHD patients, which is of importance for patients and healthcare providers during the COVID-19 pandemic