Browsing by Author "Zarina, Agnese"

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    Association between inherited monogenic liver disorders and chronic hepatitis C
    (2014-02) Piekuse, Linda; Kreile, Madara; Zarina, Agnese; Steinberga, Zane; Sondore, Valentina; Keiss, Jazeps; Lace, Baiba; Krumina, Astrida; Scientific Laboratory of Molecular Genetics
    Aim: To determine the frequencies of mutations that cause inherited monogenic liver disorders in patients with chronic hepatitis C. Methods: This study included 86 patients with chronic hepatitis C (55 men, 31 women; mean age at diagnosis, 38.36 ± 14.52 years) who had undergone antiviral therapy comprising pegylated interferon and ribavirin. Viral load, biochemical parameter changes, and liver biopsy morphological data were evaluated in all patients. The control group comprised 271 unrelated individuals representing the general population of Latvia for mutation frequency calculations. The most frequent mutations that cause inherited liver disorders [gene (mutation): ATP7B (H1069Q), HFE (C282Y, H63D), UGT1A1 (TA)7, and SERPINA1 (PiZ)] were detected by polymerase chain reaction (PCR), bidirectional PCR allele-specific amplification, restriction fragment length polymorphism analysis, and sequencing. Results: The viral genotype was detected in 80 of the 86 patients. Viral genotypes 1, 2, and 3 were present in 61 (76%), 7 (9%), and 12 (15%) patients, respectively. Among all 86 patients, 50 (58%) reached an early viral response and 70 (81%) reached a sustained viral response. All 16 patients who did not reach a sustained viral response had viral genotype 1. Case-control analysis revealed a statistically significant difference in only the H1069Q mutation between patients and controls (patients, 0.057; controls, 0.012; odds ratio, 5.514; 95%CI: 1.119-29.827, P = 0.022). However, the H1069Q mutation was not associated with antiviral treatment outcomes or biochemical indices. The (TA) 7 mutation of the UGT1A1 gene was associated with decreased ferritin levels (beta regression coefficient = -295.7, P = 0.0087). Conclusion: Genetic mutations that cause inherited liver diseases in patients with hepatitis C should be studied in detail.
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    Factors Affecting Knowledge Transfer : A Systematic Literature Review and the Method to Assess Manufacturing Company’s Readiness for Knowledge Transfer Projects
    (2024-12-01) Dubickis, Mikus; Zarina, Agnese; Putans, Romans; Rīga Stradiņš University
    In today’s business environment, with organizations enhancing performance, maintaining a competitive edge, and fostering innovation, the efficient transfer of knowledge plays an increasingly pivotal role. As industries recognize the importance of and strive for more and more productive knowledge transfer, understanding the factors affecting this process becomes imperative. Manufacturing is considered a strategic sector, and well-performing knowledge transfer is necessary for higher innovation and competitiveness. To increase knowledge transfer performance, companies must have the awareness, ability, and opportunity to identify the main aspects that need operational improvement. Studies based on systematic literature review and mapping impact factors have shown that knowledge transfer is hypothetically affected by a vast variety of factors, which creates challenges for companies in selecting and applying these factors. Therefore, the two research questions of this study are – RQ1: What are the relationships between the knowledge transfer-influencing factors identified in the literature analysis and the dependent variables? RQ2: What is the weight of the statistically significant factors identified in the empirical study?
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    Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease
    (2017-07) Zarina, Agnese; Tolmane, Ieva; Kreile, Madara; Chernushenko, Aleksandrs; Cernevska, Gunta; Pukite, Ieva; Micule, Ieva; Krumina, Zita; Krumina, Astrida; Rozentale, Baiba; Piekuse, Linda; Scientific Laboratory of Molecular Genetics
    Background: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. Methods: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele. Results: We identified 15 different allelic variants along with eight non-disease-causing allelic variants. Based on the gene molecular analysis and patients' clinical data variant p.His1069Gln was found in 66.9% of WD alleles. Wide clinical variability was observed among individuals with the same ATP7B genotype. The results of our study confirm that neurological manifestations of WD are typically present later than the liver disease but no significant association between the presence/absence of the most common genetic variant and mode of initial WD presentation or age at presentation was identified. Conclusions: (1) The most prevalent mutation in Latvian patients with Wilson disease was c.3207C>A (p.His1069Gln); (2) No significant phenotype–genotype correlation was found in Latvian patients with Wilson disease; (3) The estimated prevalence of Wilson disease in Latvia is 1 of 24,000 cases which is higher than frequently quoted prevalence of 1: 30,000.