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On 24 February 2022, Russia launched a full-scale invasion of Ukraine, which is now in its second year. The invasion disrupted higher education institutions across the country and forced both staff and students to adapt to the new reality. This article focuses on the experiences of university students to understand how their educational process was impacted by the invasion. The research data comprise written testimonies from 81 students at the Taras Shevchenko National University of Kyiv. Thematic analysis of the data resulted in three themes: organisation of studies by the university; self-organisation of studies; and personal experiences. The article concludes that the invasion shifted the educational process online; however, students are often prevented from accessing the virtual classrooms due to constant air raids, power outages and connectivity issues with the internet, thus leading students towards more self-studying.

The literature review is devoted to the chromosomally integrating viruses, the integration property. These are revealed using modern diagnostic methods, including highthroughput sequencing. The review describes various types of viruses, such as retroviruses, adenoviruses, herpes viruses, papillomaviruses, hepatitis B, SARS-CoV-2 and others. These viruses have the ability to integrate their genomes into the host cell genomes and their prevalence. Modern information on the molecular mechanisms of viral integration and methods of differential diagnostics is presented. Each of these viruses has its own unique ways of interacting with the host cell genome to maintain a latent state, which determines the specifics of the infectious process and pathological consequences for the body due to the possibility of effective reactivation.

Carvone belongs to the chemical family of terpenoids and is the main component of various plant oils. Carvone and its hydrogenated products are used in the flavouring and food industries. A quantitative thermodynamic analysis of the general network of carvone hydrogenation reactions was performed based on the thermochemical properties of the starting carvone and all possible intermediates and end products. The enthalpies of vaporisation, enthalpies of formation, entropies and heat capacities of the reactants were determined by complementary measurements and a combination of empirical, theoretical and quantum chemical methods. The energetics and entropy change in the hydrogenation and isomerisation reactions that take place during the conversion of carvone were derived, and the Gibbs energies of the reactions were estimated. It was shown that negative Gibbs energies are recorded for all reactions that may occur during the hydrogenation of carvone, although these differ significantly in magnitude. This means that all these reactions are thermodynamically feasible in a wide range from ambient temperature to elevated temperatures. Therefore, all these reactions definitely take place under kinetic and not thermodynamic control. Nevertheless, the numerical Gibbs energy values can help to establish the chemoselectivity of catalysts used to convert carvone to either carvacarol or to dihydro- and terahydrocarvone, either in carvotanacetone or carveol.

Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype–genotype correlation. The objective of this study was to conduct a comprehensive molecular–genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the COL1A1 and COL1A2 genes. Clinical and laboratory data were obtained from six OI patients who were observed at the Medical Genetics Center in Saint Petersburg from 2016 to 2023. Next-generation sequencing on MGISEQ G400 (MGI, China) was used for DNA analysis. The GATK bioinformatic software (version 4.5.0.0) was used for variant calling and hard filtering. Genetic variants were verified by the direct automatic sequencing of PCR products using the ABI 3500X sequencer. We identified six genetic variants, as follows pathogenic c.3505G>A (p. Gly1169Ser), c.769G>A (p.Gly257Arg), VUS c.4123G>A (p.Ala1375Thr), and c.4114A>T (p.Asn1372Tyr) in COL1A1; and likely pathogenic c.2035G>A (p.Gly679Ser) and c.739-2A>T in COL1A2. In addition, clinical cases are presented due to the presence of the c.4114A>T variant in the COL1A2 gene. Molecular genetics is essential for determining different OI types due to the high similarity across various types of the disease and the failure of unambiguous diagnosis based on clinical manifestations alone. Considering the variable approaches to OI classification, an integrated strategy is required for optimal patient management.

The influenza D virus was first detected and identified in 2011. The overall amino acid sequence of influenza D virus shares approximately 50% identity with that of influenza C virus, suggesting that both viruses had a common ancestor. Cattle is considered to be the primary natural reservoir for influenza D virus. The involvement of this virus into the bovine respiratory disease complex has been confirmed. The virus causes mild to moderate disease in calves and replicates in both the upper and lower respiratory tracts, promoting bronchopneumonia. The influenza D virus can be transmitted by contact or aerosol over short distances, has a high transmission rate and can potentiate the effects of other respiratory pathogens. There are currently no vaccines or specific treatment for influenza D virus. This virus can replicate and be transmitted by direct contact in ferrets and guinea pigs, which are surrogate models of human influenza infection, as well as in well-differentiated human airway epithelial cells (hAECs). Currently five distinctive lineages of influenza D virus have been identified, co-circulating in worldwide bovine and pig populations that may facilitate genetic re-assortment between different viral strains. The virus has a zoonotic potential, and if its pathogenicity for humans changes, its importance for public health will be great. Very high seropositivity rates among persons working with cattle in the USA and Italy have been reported. There is no data in the available literature on the circulation of the influenza D virus in the Russian Federation. Research is needed to study this new virus, as well as monitoring of the virus spread and circulation in our country to understand its role in bovine respiratory disease complex and its zoonotic potential.

Abstract Background Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. Case presentation We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region. Conclusions Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling.

Introduction. Bovine respiratory syncytial virus (Pneumoviridae: Orthornavirae, Orthopneumovirus; Bovine orthopneumovirus, Bovine respiratory syncytial virus, BRSV) is one of causative agents of respiratory diseases in animals. The study of the occurrence and genetic diversity of this pathogen is of particular importance. Objective. To study the frequency of virus in animals using RT-PCR and genetic heterogeneity of isolates based on determining the complete nucleotide sequence of glycoprotein G gene. Materials and methods. A 381-bp region of glycoprotein F gene was used for identification of virus genome, while complete nucleotide sequences of G gene were used for phylogenetic analysis. Phylogenetic trees were constructed using the maximum likelihood method in MEGA 7.0 software. Results. During outbreaks of respiratory diseases, BRSV RNA was detected in animals of all ages in samples of lungs, nasal secretions, pulmonary lymph nodes. Complete nucleotide sequences of glycoprotein G gene, 771 bp in length were obtained for five isolates and 789 bp in length ‒ for two isolates. Nucleotide similarity between them was 87–100%. Phylogenetic analysis assigned the isolates to subgroups II and III, each of which included two isolates. A separate clade formed by K18 isolate from animals imported from Canada and sequences from vaccines containing the attenuated «375» strain. Conclusion. The virus genome was identified in cows and heifers (20.0 and 14.3%), in calves up 1 month of age (3.05%), and in calves from 1 to 6 months of age (6.7%). Complete G gene nucleotide sequence analysis is a useful tool for studying the molecular epidemiology of BRSV on particular territories.

Abstract Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease. Each population has its own range of significant pathogenic variants. We aimed to study the frequency of pathogenic variants in the CYP21A2 gene using NGS technology and real-time PCR in Surgut patients with different clinical forms of CAH. NGS was performed on 70 patients with salt-wasting and non-classical clinical forms of 21-hydroxylase deficiency, verified by direct Sanger sequencing and PCR–RFLP analysis. Results Eleven different pathogenic variants were found in 68.57% (48/70) of patients. Among 92.86% (13/14) of patients with salt-wasting CAH, variants were found to be homozygous, with CYP21A2 gene deletion as the most frequent mutation (46.4% or 13/28 alleles). In the group with non-classical CAH, pathogenic variants were identified only in 60.71% (34/56) of patients. V282L was discovered to be the most common variant in heterozygous carriers (45.45%, 15/33). NGS method identified 2 variants that were not determined by the standard method for major mutations detection: p.C170* and p.W22X, accounting for 3% of all known pathogenic variants. Conclusion Our data make it possible to clarify the specific spectrum of CYP21A2 gene pathogenic variants in CAH patients from Surgut. The NGS method allows for the identification of rare pathogenic variants (3%) in the CYP21A2 gene that are not included in the conventional PCR–RFLP analysis.

Abstract Adaptation of humans to challenging environmental conditions, such as extreme temperature, malnutrition, or hypoxia, is an interesting phenomenon for both basic and applied research. Identification of the genetic factors contributing to human adaptation to these conditions enhances our understanding of the underlying molecular and physiological mechanisms. In our study, we analyzed the exomes of 22 high altitude mountaineers to uncover genetic variants contributing to hypoxic adaptation. To our surprise, we identified two putative loss‐of‐function variants, rs1385101139 in RTEL1 and rs1002726737 in COL6A1 in two extremely high altitude (personal record of more than 8500 m) professional climbers. Both variants can be interpreted as pathogenic according to medical geneticists' guidelines, and are linked to inherited conditions involving respiratory failure (late‐onset pulmonary fibrosis and severe Ullrich muscular dystrophy for rs1385101139 and rs1002726737, respectively). Our results suggest that a loss of gene function may act as an important factor of human adaptation, which is corroborated by previous reports in other human subjects.

Patterns of meiotic chromosome segregation were analyzed in cleavage stage and blastocyst stage human embryos from couples with autosomal reciprocal translocations (ART). The influence of quadrivalent asymmetry degree, the presence of terminal breakpoints, and the involvement of acrocentric chromosomes in the rearrangement were analyzed to evaluate their contribution to the formation of non-viable embryos with significant chromosomal imbalance due to pathological segregation patterns and to assess the selection of human embryos by the blastocyst stage. A selection of viable embryos resulting from alternate and adjacent-1 segregation and a significant reduction in the detection frequency of the 3 : 1 segregation pattern were observed in human embryos at the blastocyst stage. The presence of terminal breakpoints increased the frequency of 3 : 1 segregation and was also associated with better survival of human embryos resulting from adjacent-1 mode, reflecting the process of natural selection of viable embryos to the blastocyst stage. The demonstrated patterns of chromosome segregation and inheritance of a balanced karyotype in humans will contribute to optimizing the prediction of the outcomes of in vitro fertilization programs and assessing the risks of the formation of unbalanced embryos for ART carriers.

One of the tasks of polymer materials science is to study the possibilities of improving the complex of elastic-strength characteristics and tribological properties of polymer composite materials by improving the manufacturing technology. In this paper, the influence of ultrasonic vibrations with a frequency of 17 kHz with a low-frequency vibration with a frequency of 100 Hz during synthesis on the properties and structure of a multicomponent polymer composite material of the KVN-3 trademark is considered. The result of the research, it is found that the influence of the technological mode of pressing, consisting in the combined effect of ultrasonic vibrations with frequency and low-frequency vibration during the synthesis of KVN-3, makes it possible to increase the complex of elastic-mechanical characteristics: tensile strength by 3 %, elongation by 6 %, modulus of elasticity by 10 %, hardness by 2 %, compared to the industrial manufacturing method, as well as to reduce the intensity of mass wear by 68 % and the coefficient of friction by 3 %. The structure of polymer composite materials after different technological pressing modes is examined. The fibrillar structure of the polymer matrix after the technological regime with the influence of ultrasonic vibrations and low-frequency modulation becomes finer and more uniform.

The Second Scientific Forum “Genetic Resources of Russia” was held in St. Petersburg, June 26-28, 2023. Thе Forum comprised nine associated scientific conferences and conference schools dedicated to the establishment, formation, conservation, development, studying and utilization of biological (bioresource) collections as well as to the activities of bioresource centers, and a round table entitled “Statutory Legal Regulation and Standards for the Work with Bioresource Collections”. More than 700 researchers representing over a hundred scientific institutions and universities from Russia and other countries participated in the Forum. In total, more than 200 oral presentations were made during those events (including 16 talks at the Forum’s Plenary Session). The participants of the Forum events thoroughly discussed the results of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019-2030 associated with the establishment and development of bioresource collections for research in the field of genetic technologies, the prospects for the promotion of this sector, and the regulatory legal framework in the sphere of ensuring conservation and development of biological (bioresource) collections, establishment and functioning of bioresource centers, and their sustainable and rational utilization in scientific research and development activities. The outcome of those discussions is presented in this publication in the form of the Forum’s Resolution. Upon reviewing the results of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019-2030 pertaining to the establishment and development of bioresource collections for research in the field of genetic technologies, the Forum recognized them as successful. The Forum approved the draft of the legal act “On Bioresource Centers and Biological (Bioresource) Collections”, which is currently under consideration in the State Duma of the Russian Federation and emphasized the need for its soonest adoption.

The study of drugs of natural origin that increase endurance and/or accelerate recovery is an integral part of sports medicine and physiology. In this paper, decaffeinated green tea extract (GTE) and two ammonium salts—chloride (ACL) and carbonate (ACR)—were tested individually and in combination with GTE as stimulants of physical performance in a forced swimming rat experimental model. The determined parameters can be divided into seven blocks: functional (swimming duration); biochemistry of blood plasma; biochemistry of erythrocytes; hematology; immunology; gene expression of slow- and fast-twitch muscles (m. soleus, SOL, and m. extensor digitorum longus, EDL, respectively); and morphometric indicators of slow- and fast-twitch muscles. Regarding the negative control (intact animals), the maximum number of changes in all blocks of indicators was recorded in the GTE + ACR group, whose animals showed the maximum functional result and minimum lactate values on the last day of the experiment. Next, in terms of the number of changes, were the groups ACR, ACL, GTE + ACL, GTE and NaCl (positive control). In general, the number of identified adaptive changes was proportional to the functional state of the animals of the corresponding groups, in terms of the duration of the swimming load in the last four days of the experiment. However, not only the total number but also the qualitative composition of the identified changes is of interest. The results of a comparative analysis suggest that, in the model of forced swimming we developed, GTE promotes restoration of the body and moderate mobilization of the immune system, while small doses of ammonium salts, especially ammonium carbonate, contribute to an increase in physical performance, which is associated with satisfactory restoration of skeletal muscles and the entire body. The combined use of GTE with ammonium salts does not give a clearly positive effect.

Massive localized lymphedema (MLL) is a rare disease caused by the obstruction of lymphatic vessels with specific clinical morphological and radiological characteristics. People with morbid obesity are mainly affected by MLL. Lymphedema is easily confused with soft tissue sarcoma and requires differential diagnosis, both the possibility of an MLL and also carcinoma manifestations in the soft tissues. The possible causes of massive lymphedema include trauma, surgery, and hypothyroidism. This report is the first case of MLL treated surgically in the Russian Federation. Detailed computed tomography (CT) characteristics and an electron microscope picture of MLL are discussed. A 50-year-old woman (body mass index of 43 kg/m2) with MLL arising from the anterior abdominal wall was admitted to the hospital for surgical treatment. Its mass was 22.16 kg. A morphological study of the resected mass confirmed the diagnosis of MLL. We review etiology, clinical presentation, diagnosis, and treatment of MLL. We also performed an electron-microscopic study that revealed interstitial Cajal-like cells telocytes not previously described in MLL cases. We did not find similar findings in the literature. It is possible that the conduction of an ultrastructural examination of MLL tissue samples will further contribute to the understanding of MLL pathogenesis.

Dermatophytoses are diseases of skin and its accessory structures that are widely spread worldwide. They are most commonly caused by fungi of the genera Micro- sporum and Trichophyton. The identification of the agent’s species has a great epidemiological significance and is essential for effective therapy. The aim of the study is the identification and phylogenetic analysis of dermatophytes isolated from dogs and cats in the Republic of Kazakhstan and the Russian Federation by means of molecular techniques. The fungal isolate species were confirmed by sequencing using two rDNA internal transcribed spacer (ITS) primer pairs, and this allowed for their deposition to the GenBank database. Based on the sequencing results, Microsporum canis (12 strains) and Trichophyton benhamiae (2 strains) were identified. The nucleotide sequences were analysed, and phylogenetic trees were constructed, taking into account the results of the dermatophyte identification using two primer pairs. The constructed phylogenetic trees reflecting the relationships of dermatophytes showed that, irrespective of the primer pairs used, the Microsporum and Trichophyton pathogens are in all cases reliably assigned to different clades. The analysis of ITS4F/ITS5R sequence fragment structures enabled the establish- ment of genetic relatedness between the Trichophyton benhamiae strains first isolated from cats in Russia and the Russian strain recovered from a guinea pig. The comparative analysis of the genomes of the Microsporum and Trichophyton fungi and reference strains revealed a relatively low level of intraspecies polymor- phism and point mutations of the sequences. The data analysis demonstrated a high percentage of nucleotide sequence homology, and this allows using the primers for PCR tests intended for dermatophytosis diagnosis in cats and dogs.

Modern terrorism is a complex system that consists of a complex of complementary processes – ideological, criminal, military, political, religious and nationalistic. Chemical terrorism is one of the elements of hybrid warfare – a new technology in the fight for the reorganization of the world at the present stage. The purpose of this article is to consider one of the elements of hybrid wars – chemical terrorism. Sources and informational basis of the research, methodology. In this work, the sources published by the Organization for the Prohibition of Chemical Weapons (OPCW) were used. The publications available through the databases PubMed, Google Scholar, eLibrary, etc. were also studied. Research method – system analysis. The probability of the use of chemical warfare agents and toxic chemicals by terrorists of various ideological orientations as part of a hybrid war strategy has been studied. The discussion of the results. Hybrid military conflicts of a non-classical nature involve the participation of international terrorist organizations in hostilities. The Convention on the Prohibition of the Development, Production, Stockpiling and Use of Chemical Weapons and on Their Destruction (CWC) does not explicitly prohibit non-state actors from obtaining and using chemical weapons. This situation is very convenient for the states that have signed the CWC and use terrorist organizations as part of the strategy of indirect action. In such cases the information and psychological operations are aimed at the collapse and fragmentation of countries, undermining their ability to resist, discrediting their leaders, and causing a split in the ranks of the allies. This was most clearly shown in the incidents with the use of toxic chemicals in Syria. Conclusion. Working groups under the auspices of the UN and the OPCW, sent to Syria to investigate incidents with the use of sarin, proved unable to conduct objective investigations. They usually ended up on the side of the sponsors of chemical terrorist attacks, despite the evidence of falsification. This, in turn, can lead to serious military conflicts, for which the role of casus belli will be played by false news from the global media. The only mechanism that made it possible to stop such provocations in Syria was a public warning from the Russian side about the place and time of the planned false flag attack. At the same time, such a selective position of the UN and the OPCW can at any moment lead to the loss of the control over chemical weapons in certain regions of the world.

We report a first case of Trichophyton benhamiae isolation from domestic cats in Russia. Genetically affiliated to European strains T. benhamiae were deposited in NCBI. T. benhamiae strains formed zonal cream-colored colonies, with reversum pigmentation ranging from intensive yellow to orange-brown in one and orange-brown to chocolate in the second strain. Mycelium is colorless, hyphae are septated, rapidly aging with the formation of arthrospores and microconidia. The formation of macroconidia was recorded after 48 hours. A favorable outcome of treatment was recorded after two weeks.

Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency of β-galactosidase. In this study, we report a case of a Russian family with a history of GM1 gangliosidosis. The family had a child who, from the age of 6 months, experienced a gradual loss of developmental skills, marked by muscle flaccidity, psychomotor retardation, hepatosplenomegaly, and the onset of tonic seizures by the age of 8 months. Funduscopic examination revealed a «cherry red spot» in the macula, which is crucial for the diagnosis of lipid storage disorders. To find the pathogenic variants responsible for these clinical symptoms, the next-generation sequencing approach was used. The analysis revealed two variants in the heterozygous state: a frameshift variant c.699delG (rs1452318343, ClinVar ID 928700) in exon 6 and a missense variant c.809A>C (rs371546950, ClinVar ID 198727) in exon 8 of the GLB1 gene. The spouses were advised to plan the pregnancy with assisted reproductive technology (ART), followed by preimplantation genetic testing for monogenic disorder (PGT-M) on the embryos. Trophectoderm biopsy was performed on 8 out of 10 resulting embryos at the blastocyst stage. To perform PGT-M, we developed a novel testing system, allowing for direct analysis of disease-causing mutations, as well as haplotype analysis based on the study of polymorphic markers—short tandem repeats (STR), located upstream and downstream of the GLB1 gene. The results showed that four embryos were heterozygous carriers of pathogenic variants in the GLB1 gene (#1, 2, 5, 8). Two embryos had a compound heterozygous genotype (#3, 4), while the embryos #7 and 9 did not carry disease-causing alleles of the GLB1 gene. The embryo #7 without pathogenic variants was transferred after consideration of its morphology and growth rate. Prenatal diagnosis in the first trimester showed the absence of the variants analyzed in the GLB1 gene in the fetus. The pregnancy resulted in the delivery of a female infant who did not inherit the disease-causing variants in the GLB1 gene.

Preeclampsia is a disorder that can occur during pregnancy and is one of the leading causes of death among pregnant women. This disorder occurs after the 20th week of pregnancy and is characterized by arterial hypertension, proteinuria, fetoplacental, and multiple organ dysfunctions. Despite the long history of studying preeclampsia, its etiology and pathogenesis remain poorly understood, and therapy is symptomatic. One of the factors of the disorder is believed to be misfolded proteins that are prone to form amyloid aggregates. The CRD tests, utilizing the binding of the amyloid-specific dye Congo red to urine components, demonstrate high efficiency in diagnosing preeclampsia. However, these tests have also been found to be positive in other disorders with proteinuria, presumably associated with concomitant amyloidosis. To assess the limitations of the CRD tests, we examined urine congophilia and protein components mediating Congo red positivity in patients with proteinuria, including preeclampsia, amyloid and non-amyloid nephropathies. We stained the urine samples and calculated congophilia levels. We also assessed the contribution of large protein aggregates to congophilia values using ultracentrifugation and determined the molecular weights of congophilic urinary proteins using centrifugal concentrators. All proteinuric groups demonstrate positive results in the CRD tests and congophilia levels were more than two times higher compared with the control non-proteinuric groups (p

Aim. To conduct an inventory and quality control of biosample collection from pregnant women at different gestational ages to search for early biomarkers of pregnancy complications.Material and methods. In this work, methods for assessing the sample preparation of biosamples were used, including the isolation of deoxyribonucleic acid (DNA)/ribonucleic acid from various biomaterials, polyacrylamide gel electrophoresis of protein, and database analysis.Results. Inventory and quality control of the collection (n=18390) was carried out, which confirmed the high safety of the biomaterial, regardless of storage period. The mean concentration of DNA was 69,96±6,56 ng/µl, extracellular DNA (ecDNA) — 0,20±0,02 ng/µl, ribonucleic acid — 38,16±5,69 ng/µl. DNA Integrity Number (DIN) >9, RNA integrity number (RIN) >7, A260/280 >1,8 were for all studied samples. Protein electrophoresis demonstrated no degradation of protein zones after longterm storage. The number of errors detected during the inventory was 84 (0,46% of all records in the database), while there were 64 donors with incomplete clinical information (15% of all donors in the collection).Conclusion. The necessity of mandatory implementation of standard operating procedures when creating and maintaining a collection, on the one hand, and periodic inventory with biosample quality assessment, on the other, has been demonstrated.

Aim. To create collection of plasma and leukocyte blood samples from pregnant women to improve methods of non-invasive prenatal testing, as well as to search for deoxyribonucleic acid markers and study the molecular mechanisms of gestational complications.Material and methods. The collection creation process uses original standard operating procedures. The biomaterial for storage was plasma and leukocytes from the blood of pregnant women.Results. As of July 2023, the collection contains samples of blood plasma and buffy coat suspension from 5814 pregnant women. For 5692 women, whole- genome sequencing of extracellular deoxyribonucleic acid from blood plasma was performed on an Ion GeneStudio S5 system (Thermo Fisher Scientific Inc, USA). Data on cytogenetic examination of fetal material after invasive prenatal diagnosis were collected from 522 women. In 241 cases, samples were obtained from pregnant women with fetuses with a normal karyotype and in 282 cases from pregnant women with fetuses with chromosomal abnormalities. After pregnancy ended with childbirth, data on the course and outcomes of pregnancy were collected from 590 women. In 212 cases, pregnancy was complicated by great obstetrical syndromes. Based on the collection, a previously developed bioinformatic algorithm for non-invasive prenatal analysis was tested on a DNBSEQ-G50 sequencer (MGI, China). The obtained specificity corresponded to the expected one and was >99,9%. The sensitivity of the method is 100%.Conclusion. The created collection, as well as the clinical and genomic data associated with it, is a valuable resource for basic and applied research.

Recent data described that patients with lysosomal storage disorders (LSDs) may have clinical schizophrenia (SCZ) features. Disruption of lipid metabolism in SCZ pathogenesis was found. Clinical features of schizophrenia (SCZ) have been demonstrated in patients with several lysosomal storage disorders (LSDs). Taking into account the critical role of lysosomal function for neuronal cells’ lysosomal dysfunction could be proposed in SCZ pathogenesis. The current study analyzed lysosomal enzyme activities and the alpha-synuclein level in the blood of patients with late-onset SCZ. In total, 52 SCZ patients with late-onset SCZ, 180 sporadic Parkinson’s disease (sPD) patients, and 176 controls were recruited. The enzymatic activity of enzymes associated with mucopolysaccharidosis (alpha-L-Iduronidase (IDUA)), glycogenosis (acid alpha-glucosidase (GAA)) and sphingolipidosis (galactosylceramidase (GALC), glucocerebrosidase (GCase), alpha-galactosidase (GLA), acid sphingomyelinase (ASMase)) and concentration of lysosphingolipids (hexosylsphingosine (HexSph), globotriaosylsphingosine (LysoGb3), and lysosphingomyelin (LysoSM)) were measured using LC-MS/MS. The alpha-synuclein level was estimated in magnetically separated CD45+ blood cells using the enzyme-linked immunosorbent assay (ELISA). Additionally, NGS analysis of 11 LSDs genes was conducted in 21 early-onset SCZ patients and 23 controls using the gene panel PGRNseq-NDD. Decreased ASMase, increased GLA activities, and increased HexSpn, LysoGb3, and LysoSM concentrations along with an accumulation of the alpha-synuclein level were observed in late-onset SCZ patients in comparison to the controls (p < 0.05). Four rare deleterious variants among LSDs genes causing mucopolysaccharidosis type I (IDUA (rs532731688, rs74385837) and type III (HGSNAT (rs766835582)) and sphingolipidosis (metachromatic leukodystrophy (ARSA (rs201251634)) were identified in five patients from the group of early-onset SCZ patients but not in the controls. Our findings supported the role of sphingolipid metabolism in SCZ pathogenesis. Aberrant enzyme activities and compounds of sphingolipids associated with ceramide metabolism may lead to accumulation of alpha-synuclein and may be critical in SCZ pathogenesis.

Introduction. Bovine coronaviruses (BCoVs) are causative agents of diarrhea, respiratory diseases in calves and winter cow dysentery. The study of genetic diversity of these viruses is topical issue. The purpose of the research is studying the genetic diversity of BCoV isolates circulating among dairy cattle in Siberia. Materials and methods. Specimens used in this study were collected from animals that died or was forcedly slaughtered before the start of the study. The target for amplification were nucleotide sequences of S and N gene regions. Results. Based on the results of RT-PCR testing, virus genome was present in 16.3% of samples from calves with diarrheal syndrome and in 9.9% with respiratory syndrome. The nucleotide sequences of S gene region were determined for 18 isolates, and N gene sequences - for 12 isolates. Based on S gene, isolates were divided into two clades each containing two subclades. First subclade of first clade (European line) included 11 isolates. Second one included classic strains Quebec and Mebus, strains from Europe, USA and Korea, but none of sequences from this study belonged to this subclade. 6 isolates belonged to first subclade of second clade (American-Asian line). Second subclade (mixed line) included one isolate. N gene sequences formed two clades, one of them included two subclades. First subclade included 3 isolates (American-Asian line), and second subclade (mixed) included one isolate. Second clade (mixed) included 8 sequences. No differences in phylogenetic grouping between intestinal and respiratory isolates, as well as according to their geographic origin were identified. Conclusion. The studied population of BCoV isolates is heterogeneous. Nucleotide sequence analysis is a useful tool for studying molecular epidemiology of BCoV. It can be beneficial for choice of vaccines to be used in a particular geographic region.

Thermography and electroneuromyography parameters were studied in 34 patients with vertebrogenic pain syndrome associated with lumbar spine stenosis. All patients were treated in the neurosurgical department of the Irkutsk Scientific Centre of Surgery and Traumatology. We determined the changes in temperature values in the lumbar spine and lower extremities under the condition of disorder in peripheral nerves functional state.Purpose of the study: to evaluate the parameters of thermography and electroneuromyography in patients with lumbar spine stenosis.Materials and methods. The article presents the results of thermography and electroneuromyography of 34 patients with severe pain syndrome associated with degenerative stenosis of the lumbar part of spinal canal in preoperative period. Thermal-imaging study was carried out using a thermovision camera SVIT-004, the study of the peripheral nerves function of the lower extremities was carried out using the Neuromian-1-04 neuromyoanalyzer. The skin temperature recording points corresponded to the projection of stimulating and pickup ENMG electrodes on the spinous processes of the LIV, LV, SI vertebrae and paravertebrally.Results. Thermography parameters in patients with degenerative lumbar spine stenosis on the pain side were higher than on the intact side at all measurement points by 1–2 °C. At the same time, electroneuromyographic parameters in these patients indicated a decrease in the activity of the peripheral and central motor apparatus.Conclusion. The change in thermography parameters in patients with lumbar spine stenosis in the lumbar part and the area of pain irradiation in the lower extremities occurs alongside with the disorder of the peripheral nerves functional state.

This article deals with the problems of surgical treatment of broncho-pleural complications after pneumonectomies.

This article deals with the problems of the surgical treatment of the destructive tuberculosis of a single lung.