Primary immunodeficiency: modern approaches to diagnosis and therapy

Gabdullina, Dinara; Ussenova, Oksana; Morenka, Marina; Kovzel, Yelena

doi:10.23950/1812-2892-2016-1-12-15

J CLIN MED KAZ

2016

DOI: 10.23950/1812-2892-2016-1-12-15

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Primary immunodeficiency: modern approaches to diagnosis and therapy

Dinara Gabdullina

Oksana Ussenova

Marina Morenka

et al.

Abstract: By definition, primary immunodeficiencies (PID) are a large group of severe, genetically determined diseases, the cause of which is the violation of the cascade of the immune response of the body. A WHO scientific group to date have identified about 250 nosological forms of the PID, the International Union of Immunological societies (International Societies Union of Immunological) recognized the relationship of primary immunodeficiency with more than 270 genes; we identified over 4500 mutations. Data of the In… Show more

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Cited by 2 publications

References 18 publications

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Comparative analysis of reagent kits for DNA extraction from dry blood stains

Sedykh,

Saitgalina,

Ostankova

et al. 2023

Med. immunol.

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Neonatal screening is a mandatory newborn screening procedure that detects the presence of genetic diseases. Dry blood stains are used for mass screening of children. This technology is the most affordable and convenient for the transportation and storage of biological material. DNA extraction is one of the important steps in molecular diagnostics, the accuracy of which is particularly important in genetic analysis. Different DNA extraction kits offer different protocols and reagents, which may vary in efficiency and quality of extraction.The aim of our work was to perform a comparative analysis of reagent kits for DNA extraction from dried blood spots.The materials were dried blood drop samples on Guthrie cards obtained from healthy preterm infants on day 3-4 of life as part of a newborn screening program.The study methods included spectrophotometric analysis to determine the concentration and purity of DNA, the simplicity of protocols, the duration of isolation, and the possibility of automating the process were also evaluated. The efficiency of DNA isolation using different reagent kits was additionally monitored by real-time PCR results using a test system to assess the level of TREC and KREC in peripheral blood, since quantitative analysis requires more attention to the material under study.In assessing the purity of the nucleic acid extracted using four kits analyzed, successful deproteinization of DNA samples and relative purity could be observed. The average DNA purity for the “Extra-DNA-Bio” set was 2.2±0.23, for “EXTRA-prep PS” – 1.89±0.23, for “MagnoPrime UNI” with manual and automatic isolation – 2.31±0.21 and 2.85±0.09, respectively. The average DNA concentration for the Extra-DNA-Bio kit was 15.28 μg/mL, for the EXTRA-Prep PS kit it was 16.26 μg/mL, and for the MagnoPrime UNI for manual and automated isolation it was 62.5 μg/mL and 102.28 μg/mL, respectively. According to the applied Kraskell-Wallis criterion and Dunn’s test, significant differences in both TREC and KREC parameters are present between the group of DNA samples extracted using the “MagnoPrime UNI” reagent kit for manual extraction and the groups of samples extracted by other methods (“MagnoPrime UNI” for automatic extraction) or “Extra-DNA-Bio” and “EXTRA-Prep PS” kits.In the course of the present study, four comparable reagent sets demonstrated a high level of convergence of the obtained data, satisfying all the necessary parameters for further molecular genetic analysis, can be used for neonatal screening and in other areas of research requiring DNA extraction from a dried blood spots.

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Comparative analysis of reagent kits for DNA extraction from dry blood stains

Sedykh,

Saitgalina,

Ostankova

et al. 2023

Med. immunol.

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Efficacy and tolerability of lenvatinib in patients with radioiodine-refractory differentiated thyroid cancer: results of a multicenter observational study in the Russian Federation

Бородавина

Исаев

Shurinov

et al. 2020

Opuholi golovy i šei

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Background. The implementation of tyrosine kinase inhibitors into clinical practice improved treatment outcomes in patients with radioiodine-refractory differentiated thyroid cancer (RR-DTC). Lenvatinib is recommended as a first-line drug for these patients. The study objective is to analyze clinical experience with lenvatinib in patients with RR-DTC in the Russian Federation. Materials and methods. The data from 18 clinical sites in Russia was analyzed for the period December 2015 and September 2019. Seventyseven patients with histologically verified DTC, proven resistance to radioactive iodine therapy, and tumor progression (according to the Response Evaluation Criteria In Solid Tumors 1.1 criteria) were included in the study. Results.Median progression-free survival in patients included into analysis (n = 72) was 26.1 months. In patients who responded to therapy (including those with partial and complete response), median progression-free survival reached 36.2 months, which is higher than that reported in the updated results of the SELECT study (33.1 months). Lenvatinib-associated adverse events (AEs) were observed in 87 % of patients. Severe AEs were registered in 18.2 % of participants. In 6.5 % of cases, AEs lead to lenvatinib cessation; in 74 % of cases, AEs required dose reduction.Conclusion. Our findings suggest high efficacy and good tolerability of lenvatinib in patients with RR-DTC in routine clinical practice in the Russian Federation.

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Primary immunodeficiency: modern approaches to diagnosis and therapy

Cited by 2 publications

References 18 publications

Comparative analysis of reagent kits for DNA extraction from dry blood stains

Comparative analysis of reagent kits for DNA extraction from dry blood stains

Efficacy and tolerability of lenvatinib in patients with radioiodine-refractory differentiated thyroid cancer: results of a multicenter observational study in the Russian Federation

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