Bulletin of RSMU

ISSN Print 2500–1094 ISSN Online 2542–1204

Bulletin of RSMU

BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)

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Zinchenko RA, Tebieva IS, Kadyshev VV, Murtazina AF, Borovikov AO, Marakhonov AV, Perepelov AV, Getoeva ZK, Kutsev SI

Currently, there is limited understanding about the cumulative prevalence, diversity, and frequency of distinct orphan hereditary diseases (OHDs) in the pediatric population, both within the Russian Federation and in the global literature. This gap exists despite a significant demand for such knowledge in healthcare and society. Variability and heterogeneity of the above indicators are common across different populations, reflecting significant genetic heterogeneity of OHDs. The study aimed to assess OHDs in the pediatric population of the Republic of North Ossetia – Alania (RNO-A). A total of 543,817 people were evaluated, including 145,560 children aged 0–18 years. The cumulative prevalence of autosomal recessive (AR), autosomal dominant (AD), and X-linked (XL) OHDs was determined. The findings indicate an overall prevalence of OHDs among children of the RNO-A of 1 : 119, meaning that approximately 1% of children are diagnosed with these conditions. Notably, the total burden in children of all types of OHDs in rural areas exceeds that in urban areas and district centers by more than twofold. We identified 1,241 patients from 1,037 families with 241 distinct OHDs (109 with AD inheritance, 102 with AR inheritance, and 30 with XL inheritance). Three diseases were particularly prevalent in this population and have not been documented in similar studies: congenital myasthenia type 12, a rare form of congenital adrenal cortex dysfunction (3-beta-hydroxysteroid dehydrogenase deficiency), and brachydactyly E — amelogenesis — mental retardation — nanism syndrome. Thus, the population of the RNO-A exhibits a unique spectrum of OHDs caused by rare mutations, some of which are infrequent in other populations of the world and the Russian Federation. The significantly higher prevalence of these disorders in rural populations is noteworthy, underscoring the need for tailored, region-specific programs aimed at preventing childhood disability and/or mortality.

Received: 2024-08-06

Published online: 2024-10-17

DOI: 10.24075/brsmu.2024.041

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VIEWS 251

Shmitko AO, Bulusheva IA, Vasiliadis YuA, Suchalko ON, Syrko DS, Belova VA, Pavlova AS, Korostin DO

The MGI (MGI Tech Co. Ltd., China) next-generation sequencing platform, including the DNBSEQ-G50, -G400, and -T7 sequencers, is being actively adopted in research. Despite its widespread adoption, challenges persist in the form of limitations associated with the manufacturer's provided barcode set for library preparation. These limitations include constraints on the number of samples that can be concurrently sequenced, compatibility issues with barcodes from diverse or incomplete sets, and restrictions on the sample ratio. Purpose: to develop a universal method that allows sequencing of up to 252 samples simultaneously on a single sequencer lane, while eliminating barcode-related limitations. We proposed a “quad method” that provides 4 or 4n+2 equilibration of barcodes. This paper also delves into its comprehensive analysis, verification procedures, seamless integration into the sequencing process and validation of the method on the DNBSEQ G-400 platform. The quad method showed efficiency and reliability, allowing sequencing of up to 252 samples simultaneously without compromising data quality. The proposed method optimizes library preparation and improves the flexibility of sequencing on the MGI platform.

Received: 2024-08-15

Published online: 2024-10-10

DOI: 10.24075/brsmu.2024.040

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VIEWS 310

Fokin VF, Ponomareva NV, Konovalov RN, Medvedev RB, Boravova AI, Lagoda OV, Krotenkova MV, Tanashyan MM

Verbal working memory (VWM) is a fundamental function responsible for temporary storage and short-term handling of verbal information. The study was aimed to determine the working memory biomarker associated with imaging of the source of infra-slow electrical activity in patients with chronic cerebral ischemia (CCI). A total of 50 patients with CCI took part in the study: 16 males and 34 females aged 50–85 years. VWM was evaluated by the Luria test. The subjects were divided into two groups matched by age with the VWM below and above the average level for the studied sample. The infra-slow, below 0.1 Hz, electrical activity, otherwise known as the DC potentials (DCPs) of the brain, was recorded with five monopolar leads: frontal, central, occipital, right and left temporal. The resting state fMRI was used to analyze brain regions with the activated BOLD (blood-oxygen-level-dependent) signal that were associated with the brain regions responsible for VWM and the DCP generation sources recorded with the non-polarizable electrodes. The differences in BOLD signal activation and infra-slow activity amplitude were found in two VWM groups. These resting-state neural networks, VWM and the neural network responsible for DCP generation, overlapped in frontal regions. There were significant differences in DCP recorded with the frontal lead in two VWM groups (р = 0.00004). In patients with CCI, infra-slow activity, recorded with the frontal lead that is generated by the neural network fragment representing an intersection of the VWM network and the part of the brain responsible for DCP generation in the frontal region, is a VWM biomarker.

Received: 2024-08-29

Published online: 2024-09-30

DOI: 10.24075/brsmu.2024.039

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VIEWS 301

Vlasov AA, Andrusenko SF, Denisova EV, Elkanova AB, Kadanova AA, Melchenko EA, Sokulskaya NN, Domenyuk DA

Cryoprotectants enable the long-term storage of biomaterials. Despite progress in cryopreservation, there are a number of problems associated with damage to the cell membranes that result from insufficient efficacy and toxicity of some components. In this regard, it is important to develop non-toxic cryopreservation agents performing well at low temperature. The study was aimed to assess morphofunctional features of blood cells in the lactulose-based cryopreservation agent considering the effects of moderate low temperature (–40 °С). Blood cells (leukocytes, erythrocytes, platelets) collected from 30 conditionally healthy female voluntary donors aged 18–23 years were assessed. The complete blood count test was performed using the Gemalight 1270 automated hematology analyzer. Computerized cytomorphometric assessement was performed using the MECOS-C2 hardware and software complex. The study results showed morphological and functional integrity of blood cells after the 24 h storage at the temperature of–40 °С when added the lactulose-based cryopreservation agent developed: erythrocytes — 85.3 ± 0.30 % (p < 0.05), platelets – 75 ± 0.71 % (p < 0.05), leukocytes – 90.1 ± 0.91% (p < 0.05) of the values reported before freezing. The findings demonstrate the potential of using lactulose as a non-toxic component of cryopreservation systems, which will expand the range of cryopreservation agents used and make it possible to analyze morphofunctional parameters of frozen whole blood samples when conducting large-scale studies.

Received: 2024-07-17

Published online: 2024-09-17

DOI: 10.24075/brsmu.2024.038

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VIEWS 328

Uyaniklar OO, Rahimli Ocakoglu S, Atak Z, Suer E

Adolescence represents a pivotal phase in the transition from childhood to adulthood. Adolescent gynecology is the clinical specialty that focuses on the management of gynecologic problems during this period. This study's primary objective is to emphasize the importance of adolescent gynecology by examining the gynecological causes of adolescent presentations and highlighting the differences that warrant consideration in the clinical approach to adolescent patients. The study was designed as a retrospective cohort study in an academic tertiary hospital and included adolescent individuals presenting to the obstetrics and gynecology emergency department or outpatient clinic. The analysis encompassed a range of factors, including age, presenting symptoms, examination findings, ultrasound results, laboratory data, and the necessity for hospital admission. The study cohort comprised 750 adolescent patients, 71.3% seeking gynecological care. Adolescents most frequently presented for menstrual irregularities (57.6%) and secondly for dysmenorrhea. The results of the gynecological clinical evaluations indicated that 62.9% of the patients had menstrual disorders. Of these, 53.4% had irregular menstrual cycles, 4.5% had prolonged and/or heavy bleeding, and 3% had amenorrhea. Ultrasound imaging revealed the presence of pathological findings in 25.8% of the patients. In conclusion, this study's findings indicate that irregular menstrual cycles are the most common gynecological condition in the adolescent population. The physiological characteristics of adolescents require a distinct approach to diagnosis and treatment compared to adult women, which can significantly impact future fertility and overall reproductive health.

Received: 2024-06-16

Published online: 2024-08-31

DOI: 10.24075/brsmu.2024.035

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VIEWS 376

Rudik IS, Mironov AV, Kuznetsova VS, Vasiliev AV

The review considers photopolymerizable compositions based on biocompatible polymers for regenerative medicine. Assessment of the physical-mechanical and biological properties of photopolymerizable polymeric matrices, polyethyleneglycol, lactic acid, collagen, and hyaluronic acid, as well as of the effectiveness and toxicity of various photoinitiator supplements has been performed. Mechanical properties and degradation rate of the photopolymerizable matrices are ensured by selection of proportions of methacrylated mono-, oligo-, and polymers these consist of, while their toxicity largely depends on the photoinitiator systems used. It has been concluded that it is necessary to search for and develop the methods to obtain photopolymerizable polymeric matrices by using the compounds capable of initiating radical polymerization with lower toxic effect.

Received: 2024-07-15

Published online: 2024-08-31

DOI: 10.24075/brsmu.2024.036

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VIEWS 320

Proskokova SV, Enikeev AM, Pirogov AE, Kuliev RM

The non-removable temporary structures are used in orthopedic dentistry to provide high-quality treatment. The approaches in prosthetics are conditionally divided into conventional and digital. These approaches imply the use of both common materials for prosthetics and unique options. When the conventional approach is used, the quality of orthopedic dental treatment depends on the manual skill of the provider (dental technician). Unlike the conventional approach, the digital one uses a wide range of libraries with ready-made templates for various options for the dentoalveolar system aesthetic and functional characteristics. This fact allows the attending physician to do without any intermediary for the manufacture of dental prostheses, if the material and technical resources permit. The use of 3D printing in dentistry has only recently begun. From our point of view, the active use of photopolymer 3D resins can become a promising option in terms of economic and strength characteristics.

Received: 2024-07-16

Published online: 2024-08-30

DOI: 10.24075/brsmu.2024.037

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VIEWS 321

Soldatenko AA, Gumenyuk LN, Berdieva DM, Ponomarchuk EI

Post-COVID asthenic syndrome (PCAS) is still the subject of active study. The study was aimed to assess the effects of systemic ozone therapy used to complement drug therapy on plasma levels of TNFα, IL1β, IL6 and parameters of mental status in patients with PCAS. Two randomized groups of patients with PCAS (n = 140, age 18–45) were assessed and treated: patients of the index group (n = 70) received systemic ozone therapy in addition to drug therapy; patients of the comparison group (n = 70) received drug therapy without systemic ozone therapy. Plasma levels of TNFα, IL1β, IL6 were measured and the patients’ mental status was assessed using the MFI-20, MoCa, ISI, HARS, and CGI-S scores before and after treatment. After the end of therapy (on day 30) the TNFα, IL1β, IL6 levels reported for the index group showed no significant differences from the values reported for the control group (р > 0.05) and were lover, than the values of the comparison group by 39% (р = 0.003), 33.3% (р = 0.022), and 36.1% (р = 0.012), respectively. The changes in mental status were also more pronounced in the index group, than in the comparison group: the average final MFI-20 score was lower by 36.7% (р = 0.001), ISI by 50.5% (р < 0.001), HARS score by 45.8% (р = 0.001), while MoCa score was higher by 10.9% (р = 0.046), respectively. In the index group, the number of patients with “no disease” based on CGI-S was 94.2%, while in the comparison group it was 62.9% (р = 0.001). In our study adding systemic ozone therapy to drug therapy in patients with PCAS allowed us to achieve normalization of the TNFα, IL1β, IL6 levels and complete reduction of PCAS clinical manifestations in 94.2% of cases. Thus, the use of systemic ozone therapy can be considered as one of the effective and pathogenetically substantiated strategies for combination treatment of patients with PCAS in outpatient settings.

Received: 2024-07-02

Published online: 2024-08-27

DOI: 10.24075/brsmu.2024.034

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VIEWS 430