Publications by authors named "N Y Kashirskaya"
Article Synopsis
- * The study identified 233 genetic variants in Russian patients, including 47 that are not found in international databases, with a notable prevalence of severe and distinct mutations compared to global populations.
- * With the introduction of CFTR modulator therapy for patients under 19, the research highlights the importance of genetic testing for personalized treatment, showing differences in patient profiles compared to European registries.
Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).
Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.
Background: In current literature there are only scarce data on the host inflammatory response during complex (Bcc) persistence. The primary objective of the present research was to carry out cross-sectional analyses of biomarkers and evaluate disease progression in cystic fibrosis (CF) patients with chronic Bcc infection and pathogen-free ones. The secondary aim was to assess prospectively overall survival of the study participants during up to 8 years of follow-up.
View Article and Find Full Text PDFp.Asn1303Lys (N1303K) is a common missense variant of the gene, causing cystic fibrosis (CF). In this study, we initially evaluated the influence of modulators on the restoration of N1303K- function using intestinal organoids derived from four CF patients expressing the N1303K variant.
View Article and Find Full Text PDFComplex alleles (CAs) arise when two or more nucleotide variants are present on a single allele. CAs of the gene complicate the cystic fibrosis diagnosis process, classification of pathogenic variants, and determination of the clinical picture of the disease and increase the need for additional studies to determine their pathogenicity and modulatory effect in response to targeted therapy. For several different populations around the world, characteristic CAs of the gene have been discovered, although in general the prevalence and pathogenicity of CAs have not been sufficiently studied.
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