Aim. Evaluation of the clinical characteristics in patients with COVID-19. Materials and methods. The article presents clinical and instrumental data of 1169 patients included in a single-center mixed study. Patients were tested for COVID-19 using polymerase chain reaction, computed tomography (CT), and antibody screening. Clinical history data were collected. Results. In patients with confirmed COVID-19, lung damage and a positive test for antibodies were observed in 75.5 and 45.2% of cases, respectively. The most common symptoms of COVID-19 were: fever (73.2%), weakness, (72.7%) dry cough (62.8%) and shortness of breath (55.4%). Patients with CT-visualized lung lesions were more likely to have clinical symptoms and elevated levels of antibodies. Patients with chronic diseases of the endocrine system, circulatory system, and respiratory system had a more severe course of the disease (CT-14: 91.296.3%) than patients without chronic diseases (CT-14: 85,1%). Conclusion. We have compiled a clinical profile of patients with COVID-19 and highlighted the most significant clinical characteristics corresponding to a more severe course of the disease. Our data showed that patients with chronic diseases require a personalized approach and the development of specific criteria for the diagnosis and treatment of COVID-19.

Myelodysplastic syndrome (MDS) is a clonal disease derived from hematopoietic stem cells, characterized by ineffective hematopoiesis (resulting in peripheral blood cytopenia) and an increased risk of transformation into acute myeloid leukemia. MDS is caused by a complex combination of genetic mutations resulting in a heterogeneous genotype. Genetic studies have identified a set of aberrations that play a central role in the pathogenesis of MDS. In this article, we present a clinical case of MDS transformation into acute myeloid leukemia in the context of two cell lines exhibiting morphological, immunophenotypic, and dysmyelopoiesis markers and the presence of two heterozygous mutations in the TET2 gene.

Morphological verification is not always required to make a definitive diagnosis of lymphangioleiomyomatosis (LAM) with a typical picture of cysts in the lungs using high-resolution computed tomography. Vascular endothelial growth factor D – VEGF-D (vascular endothelial growth factor D) is used worldwide as a laboratory marker of LAM with a diagnostic threshold of 800 pg/ml and higher in the blood [1]. There was no such possibility in the Russian Federation until April 2023. The aim of the study was to evaluate the diagnostic value of the serum levels of vascular endothelial growth factor D (VEGF-D) in patients with LAM in the Russian Federation. Methods. Blood serum samples were prospectively collected in the laboratory of the State Budgetary Institution of Healthcare of the city of Moscow “Moscow Clinical Scientific and Practical Center named after A.S.Loginov of the Department of Healthcare of the City of Moscow” from 71 patients with multiple air cavities in the lungs using high-resolution computed tomography of the chest organs. VEGF-D levels were measured using enzyme immunoassay, and diagnostic value was assessed using performance curve analysis (ROC-curve). Results. Patients with identified LAM accounted for 48 (68%) of all the included patients (n = 71) with cystic lung disease, with the average age of 48.2 ± 12.9 years. The group of patients with lung cysts not associated with LAM and the group of patients with LAM significantly differed in VEGF-D levels: 552 ± 276.5 pg/ml vs 1,425 ± 872.1 pg/ml, respectively (p < 0.0001). The level of VEFG-D was higher in women with LAM and extrapulmonary manifestations of the disease than in women without extrapulmonary changes: 1,510 ± 968.6 pg/ml vs 1,328.5 ± 761.0 pg/ml, respectively. However, the difference was not statistically significant (p < 0.06). The level of VEFG-D was higher than 800 pg/ml in 75% of patients with LAM. The area under the ROC curve for VEFG-D in LAM was 0.866 (95% CI – 0.783 – 0.950; p < 0.0001). The threshold value of VEFG-D of 738 pg/ml had a sensitivity of 81% and a specificity of 79% for the diagnosis of an identified LAM. Conclusion. Our data indicate that measurement of VEGF-D blood serum levels allows diagnosing LAM in 75% of cases with clinical and radiological suspicion of LAM without morphological examination of lung tissue.

Background/Objectives: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease for which serum vascular endothelial growth factor D (VEGF-D) is a recommended diagnostic biomarker. Data from the Russian Federation remain limited. We aimed to evaluate the diagnostic accuracy of VEGF-D in women with multiple pulmonary cysts and to assess diagnostic thresholds in a Russian cohort. Methods: In a single-center prospective cohort study, 71 women aged 20–74 years with multiple lung cysts on high-resolution computed tomography were enrolled. Serum VEGF-D levels were measured using Quantikine ELISA. Diagnoses were established according to international guidelines. Receiver operating characteristic analysis was used to evaluate diagnostic performance and identify cut-off values. Results: Of 71 patients, 48 (68%) had definite LAM. VEGF-D levels were higher in LAM than in non-LAM patients (1425 ± 872.1 pg/mL vs. 552 ± 276.5 pg/mL, p < 0.0001). The area under the curve was 0.866 (95% CI 0.783–0.950). A cohort-derived threshold of 738 pg/mL yielded 81% sensitivity and 79% specificity. VEGF-D levels of 800 pg/mL or higher were observed in 75% of LAM cases. Conclusions: Serum VEGF-D demonstrates high diagnostic value for LAM in women with multiple pulmonary cysts in the Russian Federation. The findings support implementation of VEGF-D testing in routine practice and are consistent with use of the internationally recommended 800 pg/mL threshold for noninvasive confirmation in most patients.

Aim: determination of alleles of HLA genes associated with autoimmune hepatitis (AIH) and overlap syndrome (OS) in the Russian population.Materials and methods. The study included 160 adult patients with a verified diagnosis of AIH or OS. The control group consisted of 320 conditionally healthy participants. A custom NGS panel was used to type the alleles of the HLA class I and II genes. The statistical analysis was carried out using Pearson’s χ² test with multiple FDR correction (p < 0.05). A logistic regression model was used to evaluate HLA alleles as predictors of the disease.Results. Alleles and haplotypes which frequencies have statistically significant difference in the study and control groups were identified. In the study group, alleles HLA-A*01:01:01 (OR = 2.15; 95 % CI: 1.43–3.23), HLA-B*08:01:01 (OR = 3.38; 95 % CI: 2.10–5.44), HLA-C*07:01:01 (OR = 1.90; 95 % CI: 1.30–2.78), HLA-DPB1*01:01:01 (OR = 3.22; 95 % CI: 1.58–6.55), DQB1*02:01:01 (OR = 3.11; 95 % CI: 2.06–4.70), HLA-DRB1*03:01:01 (OR = 3.03; 95 % CI: 2.02–4.55) were more common. Frequency of occurrence of the DQB1*03:01:01 allele in the study group was lower than in the control group (OR = 0.49; 95 % CI: 0.34–0.71). A logistic regression model was built, which was characterized by an accuracy of 0.688, a sensitivity of 0.487, and a specificity of 0.887.Conclusion. Alleles and haplotypes of HLA genes associated with AIH and OS were identified in a representative sample of the Russian population.

Introduction. Chronic myeloid leukemia is a myeloproliferative disease associated with a t(9;22)(q34;q11) translocation resulting in a chimeric BCR::ABL1 gene. Molecular genetic studies are used as a diagnostic method and for determination of minimal residual disease by quantification of the mRNA expression level of the chimeric BCR::ABL1 gene.Objective. To validate the developed multiplex test system for simultaneous quantitative determination of e13a2 (b2a2) and e14a2 (b3a2) transcripts of translocation p210 in comparison with the analog system registered in Russia.Materials and methods. In total, 50 peripheral blood samples were used. Of these, 39 belonged to patients diagnosed with CML; 11 blood samples from healthy people were used to confirm analytical specificity. The reagent kit includes the specifically developed primers and fluorescently labeled probes, the concentration of which was selected experimentally, as well as original reagents manufactured by the Centre for Strategic Planning, Federal Medical and Biological Agency (Russia). Statistical analysis was performed using the StatTech v.4.5.0 software (developed by StatTech, Russia). Differences were considered significant at p < 0.05.Results. The conducted analytical and diagnostic characterization of the developed kit showed the following results. The relative sensitivity determined using cell standards was 0.01 %. The reproducible analytical sensitivity was 100 copies/mL (CV = 1.86 %). In analytical specificity testing, the absence of false results was shown. When testing the reagents of the test system on clinical samples, the complete convergence (100 %) with the results obtained using the reference kit was revealed.Conclusions. Approbation of the developed reagent set showed its sufficiently high analytical sensitivity and diagnostic sensitivity. This set can be used for identification and quantitative determination of the mRNA of the chimeric BCR::ABL1 gene for the purposes of diagnosis, timely and accurate therapy, and monitoring of minimal residual disease.