GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.

Introduction: Accurate detection of GATA1 mutation is highly significant in patients with acute myeloid leukemia (AML) and trisomy 21 as it allows optimization of clinical protocol. This study was aimed at (a) enhanced search for GATA1 mutations; and (b) characterization of molecular landscapes for such conditions.

Methods: The DNA samples from 44 patients with newly diagnosed de novo AML with trisomy 21 were examined by fragment analysis and Sanger sequencing of the GATA1 exon 2, complemented by targeted high-throughput sequencing (HTS).

Genetic Features of HIV-1 Integrase Sub-Subtype A6 Predominant in Russia and Predicted Susceptibility to INSTIs.

The increasing use of the integrase strand transfer inhibitor (INSTI) class for the treatment of HIV-infection has pointed to the importance of analyzing the features of HIV-1 subtypes for an improved understanding of viral genetic variability in the occurrence of drug resistance (DR). In this study, we have described the prevalence of INSTI DR in a Russian cohort and the genetic features of HIV-1 integrase sub-subtype A6. We included 408 HIV infected patients who were not exposed to INSTI.

Molecular Epidemiology of HIV-1 Subtype G in the Russian Federation.

Although HIV-1 subtype A has predominated in Russia since the end of the 20th century, other viral variants also circulate in this country. The dramatic outbreak of HIV-1 subtype G in 1988-1990 represents the origin of this variant spreading in Russia. However, full genome sequencing of the nosocomial viral variant and an analysis of the current circulating variants have not been conducted.

A case of pediatric acute myeloid leukemia with t(11;16)(q23;q24) leading to a novel KMT2A-USP10 fusion gene.

We present a leukemia case that exhibits a chromosomal translocation t(11;16)(q23;q23), which results in the expression of a novel KMT2A fusion gene. This novel fusion, KMT2A-USP10, was found in a relapse of acute myeloid leukaemia M5a. USP10 belongs to a protein family that deubiquitinates a distinct set of target proteins, and thus, increases the steady state protein levels of its target subproteome.

Molecular characteristic of acute leukemias with t(16;21)/FUS-ERG.

T(16;21)(p11;q22)/FUS-ERG is a rare but recurrent translocation in acute leukemias and in some types of solid tumors. Due to multiple types of FUS-ERG transcripts, PCR-based minimal residual disease detection is impeded. In this study, we evaluated a cohort of pediatric patients with t(16;21)(p11;q22)/FUS-ERG and revealed fusion gene breakpoints.

A rapid expansion of HIV-1 CRF63_02A1 among newly diagnosed HIV-infected individuals in the Tomsk Region, Russia.

The prevalence of HIV infection in different Russian regions is nonuniform. In the Tomsk region (TR), 2020 HIV new infection cases were recorded in 2013, the morbidity having increased 5.9-fold as compared to 2012.

[Prevention of contrast-induced nephropathy in the context of evidence-based medicine].

The paper considers the mechanisms of development of contrast-induced nephropathy in the use of iodinated radiopaque contrast agents (RCAs), as well as the criteria of their assessment. It gives different existing recommendations for prevention of the nephrotoxic effects of RCAs.

HIV-1 genetic diversity in Russia: CRF63_02A1, a new HIV type 1 genetic variant spreading in Siberia.

One of the factors determining a high degree of heterogeneity in the HIV population is recombination-based variation, which leads to the emergence of the virus variants with a mosaic genome. An example is CRF63_02A1, an HIV-1 variant currently spreading in the Siberian region of Russia. To prove that this HIV-1 variant is a new circulating recombinant form that had emerged as a result of repeated recombination between CRF02_AG and subtype A, we have isolated seven full-length HIV genomes and theoretically analyzed them, that is, reconstructed the phylogenetic relationships, determined recombination breakpoints and regions, and compared them with the regions known for CRF02_AG.

[Prevalence of mutations responsible for resistance to antiretroviral preparations among HIV-1 variants circulating in Novosibirsk region].

Aim: Analyze the diversity and prevalence of mutations in human immunodeficiency virus type 1 (HIV-1) genome emerging in response to antiretroviral therapy isolated from HIV-infected individuals of Novosibirsk region in 2010, 2011.

Materials And Methods: Detection of mutations in HIV-1 genome responsible for the resistance to. antiretroviral preparations (ARVP) was carried out by determination of pol gene nucleotide sequence and subsequent analysis ofthe data obtained by program HIVdb: Genotypic Resistance Interpretation Algorithm.

[Study of biological properties of HIV-1 variants resistant to antiretroviral preparations].

Aim: Separation of HIV-1 isolates from HIV infected patients who had received antiretroviral therapy courses. Analysis of genetic and replicative properties of the separated isolates, study of pol gene mutation stability sustentation that is responsible for the emergence of drug resistance.

Materials And Methods: HIV isolate separation was carried out by co-cultivation ofperipheral blood mononuclears of HIV infected patients with previously stimulated phytohemagglutinin cells of healthy donors.

[Molecular-genetic characteristic of HIV-1 A and B subtypes variants isolated in Novosibirsk region].

Aim: Study phylogenetic interconnections of HIV-1 subtype A and B variants circulating in Novosibirsk region (NSR).

Materials And Methods: 268 HIV-1 variants isolated in 2007 - 2010 from blood samples of HIV infected patients in NSR, Samara, Congo and Moscow. HIV-1 variant genotyping was performed by analysis of 1.

Genetic characterization of an isolate of HIV type 1 AG recombinant form circulating in Siberia, Russia.

Before 2008, HIV-1 subtype A was the predominant genetic variant in the Novosibirsk oblast of Russia as well as in most parts of this country. However, a rapid spread of the recombinant HIV-1 02_AG form has been reported in Novosibirsk since 2009. We have analyzed the genome of the 10.

[Properties of CRF02_AG HIV-1 isolates circulating in Novosibirsk region].

Aim: Study of circulating 02_AG recombinant form HIV-1 isolates that have been rapidly spreading in Novosibirsk region during 3 recent years.

Materials And Methods: WHO protocol for primary HIV isolation was used, automatic sequencer was used for genetic characterization of isolates. Virus specific RNA were isolated and env HIV-1 region DNA fragments were processed.

[Analysis of the antigeno-immunologic activity of heated leptospirosis vaccine in vaccinees and in an experimental study].

The comparative analysis of the immunological effectiveness of heat-killed polyvalent leptospirosis vaccine has shown the low immunological effectiveness of the whole preparation (17.8%) and its components with the exception of the antigen of the Grippotyphosa serogroup. Antibodies could be detected in the vaccinees for not more than 10 months, and they showed the properties of 19S-macroglobulin antibodies.

[1st isolation of serovar Sorex--Jalna leptospirae from humans].

Leptospira strain "Patient No. 84", identical to the international standard of sorexjalna serovar, of Javanica serogroup was for the first time isolated on the 5th day of the disease from a patient suffering from leptospirosis in seeding his blood in Vervoort-Wolf's fluid medium. Antibodies heterologous against the strain isolated were also determined in the patient's blood on the 5th day.

[Formation of group and intergroup antibodies in humans with leptospirosis infections].

The authors studied regularities attending the biosynthesis of group (homologous) and intergroup (heterologous) antibodies in man during the whole cycle of leptospirosis infection, and for three months after it. Leptospira of the serological groups Pomona, Grippotyphosa, Icterohaemorrhagiae, Hebdomadis, the most prominent in the morbidity structure at present, served as etiological causative agents of the disease. Biosynthesis of both homologous and heterologous antibodies had its specific features for each serological group of the disease, and was characterized by the quadripol dynamics of 19S-macro and 7S-microglobulin antibodies production in leptospiroses of serological groups Pomona and Gryppotyphosa, whereas in leptospiroses of serological groups Icterohaemorrhagiae and Hebdomadis a graphically dipolic synthesis dynamics of 19S-macroglobulin antibodies alone was noted.

[Comparative study of the immunoglobulin content in persons from leptospirosis foci in different geographical zones of the RSFSR].

The authors carried out a comparative study of the content of serum immunoglobulins in persons from the leptospirosis foci of various geographical zones of the RSFSR: European part--the Centre (Moscow and Ryazan regions), the South (Checheno-Ingush ASSR and Krasnodar Territory), and Western Siberia (Altai territory), Leptospira of serological group Pomona, Grippotyphosa, and Hbedomadis served as the causative agents of the diseases. It appeared that the annual course of the climatic factors acted equally (inhibitory action) on the immuno-globulin metabolism in the residents of temperate and southern zones of the RSFSR at the warm period of the year (May-September), and in the Western Siberia- in winter. However, irrespective of the time of the year, the level of immunoglobulins G and A was greater in the residents of Western Siberia than in the native population of the European part.

Formation of antibodies and immunoglobulins of various classes in persons vaccinated with warm antileptospirosis polyvalent vaccine.

The results of the observations of 2 groups of 372 persons during 10 months showed that a twofold inoculation of corpuscular heated 6-valent antileptospiral vaccine ensures the formation of 19S-antibodies. The ratio 19S/7S antibodies was determined by inactivation of IgM agglutinins with the help of 2-mercaptoethanol. Quantitative content of immunolglobulins (G, A and M) was determined in parallel with the reaction of agglutination by the method of simple radial diffusion.

The dynamics of IgM- and IgG-antibodies in leptospiral infection in man.

The dynamics of specific agglutinating antibodies belonging to different classes of immunoglobulins in 1047 blood sera of 669 patients and persons who had recovered from leptospirosis was studied. 19S and 7S antibodies were found in sera of patients with simultaneous presence of Pomona and Grippotyphosa. The character of syntesis of specific leptospiral IgM and IgG antibodies correlated, but the concentration of the IgG was much lower.