Bulletin of RSMU

ISSN Print 2500–1094 ISSN Online 2542–1204

Bulletin of RSMU

BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)

Scopus

SCImago Journal & Country Rank

Log In Registration RU

Gasanbekova AP, Frankevich NA, Chagovets VV, Dolgopolova EL, Novoselova AV, Karapetyan TE, Mamedova GE, Frankevich VE

The features of polyamine and amino acid metabolism play a key role in the cellular processes, and the search for their role as prognostic and diagnostic (assessment of fetal condition severity) markers in obstetrics can contribute to improvement of perinatal outcomes in fetal growth restriction (FGR) syndrome, both isolated and combined with early onset preeclampsia (PE). The study was aimed to determine the features of polyamine and amino acid levels associated with placentaassociated pregnancy complications. Liquid chromatography coupled with mass spectrometry was used to determine blood levels of polyamines and amino acids in 156 pregnant women divided into the following groups: with FGR — 48 pregnant women, with early onset PE — 56 pregnant women, control group — 52 somatically healthy women having no pregnancy complications. As a result, we managed to distinguish significant differences in these metabolites, depending on the obstetric complication (PE or FGR), and to determine correlations of those with a number of clinical data. We revealed a strong negative correlation between the increasing fetal condition decompensation in FGR and the length of the newborn’s hospital stay for the PE and FGR groups, as well as between the levels of 1,7-diaminoheptane polyamine (r = –0.78, CI = –0.92 – ‒0.37, p = 0.002; r = –0.76, CI = –0.95 – 0.23, p = 0.003) and proline amino acid and the increasing fetal condition decompensation in FGR (r = –0.56, CI = –0.86 – –0.034, p = 0.03). Considering the diversity and complexity of metabolic pathways responsible for adaptation in the context of hypoxic damage, the results obtained suggest that regulation of amino acids and polyamines is coordinated. Metabolic pathways of low molecular weight antioxidants, proline and polyamines, are associated with clinical pregnancy outcomes in FGR and early-onset PE.

Received: 2024-06-21

Published online: 2024-08-15

DOI: 10.24075/brsmu.2024.031

Comments 0

VIEWS 1679

Bondareva EA, Leonov GE, Parfenteva OI, Arutiunian AA, Bevziuk NA, Kovaleva ON, Gadzhiakhmedova AN, Shemyakov SE, Kulemin NA

Quantification of the subcutaneous and visceral fat depot in the abdominal region is a promising method to assess individual risk of cardiometabolic disorders and estimate the efficacy of certain drugs. The local bioimpedance analysis (BIA) represent a new promising method for separate quantification of two fat depots in the abdominal region. The method combines high accuracy, low cost, and noninvasiveness. The study was aimed to analyze the relationships between the impedance estimates obtained in the local BIA lead and the complex of anthropometric and biochemical characteristics in males and females. A total of 147 females and 42 males aged 18–73 years were assessed. To estimate subcutaneous fat, we used the local BIA lead (АВС-02 Medass) in accordance with the earlier proposed electode placement scheme. Local impedance (Z50sc, Ohm) was recorded using the АВС-02 Medass software. The correlation analysis revealed significant correlations of Z50sc with the waist-to-height ratio, insulin concentration, body fat percentage, and HOMA-IR. Markers of the risk of cardiometabolic diseases (abdominal obesity, insulin resistance, and body fat percentage) are associated with the increased Z50sc values. The results of ROC analysis with the insulin resistance index (AUC 0.79 [0.72; 0.84], p < 0.000) make it possible to consider Z50sc a promising marker of the risk of cardiometabolic diseases. The differences between subgroups are confirmed by both statistical significance and large effect size.

Received: 2024-05-31

Published online: 2024-08-07

DOI: 10.24075/brsmu.2024.030

Comments 0

VIEWS 2030

Smirnova TG, Andreevskaya SN, Ustinova VV, Larionova EE, Kiseleva EA, Chernousova LN, Ergeshov A

The diagnosis of mycobacterial co-infection is one of the pressing public health issues. The study was aimed to determine discriminatory power of multiplex PCR used for species identification when detecting mixed mycobacterial populations. The study involved model samples representing the mixtures of DNA of two mycobacterial species with the ratios of 1 : 1, 1 : 9, 1 : 99, and 1 : 999 and different total DNA concentrations (103 gEq/mL to 106 gEq/mL). The model samples were assessed using the multiplex PCR-based AmpliTube-RV-Differentiation kit (Syntol LLC; Russia). It has been shown that the kit is capable of detecting the mixtures of mycobacterial species with high discriminatory power. The discriminatory power of real-time PCR used for analysis of the mixture of DNA of two mycobacterial species depended on the total DNA content in the sample and varied between 0.1% for high-rate samples (total DNA concentration 106 gEq/mL) and 50% for low-rate samples (total DNA concentration 103 gEq/mL) and corresponded to the amount of DNA of the species in the sample of at least 5 × 102 gEq/mL. When the amount of DNA of each species in the mixture was at least 5 × 102 gEq/mL, the results of PCR test for detection of co-infection did not depend on the mucobacterial species contained in the mixture, which should be taken into account when analyzing PCR results.

Received: 2024-06-21

Published online: 2024-08-04

DOI: 10.24075/brsmu.2024.029

Comments 0

VIEWS 1602

Nikishina VB, Petrash EA, Yunina-Pakulova NYu, Lukyanov ES

The relevance of the reported study results from the need to clearly define the target of psychological impact in combatants with amputated limbs. The time perspective being an integral characteristic ensures the life experience integrity: all life events are intertwined within the boundaries of the past, present and future. The study was aimed to assess the time perspective structure in combatants with amputated limbs. The sample consisted of 78 males aged 20–53 years, who had combat experience and underwent treatment or rehabilitation after getting injured. The study involved the use of the Mississippi Scale for Combat-Related PostTraumatic Stress Disorder, Zimbardo Time Perspective Inventory, method for event-based reconstruction of a person’s time perspective by V.B. Nikishina and E.A. Petrash, SR-45 method by P.I. Yunatskevich, infantilism inventory by A.A. Seregin. The factor structure of time perspective in combatants with amputated upper limbs includes the factor of non-reflexive future, factor of limited time perspective, and the situational and behavioral risk factor. In cases of amputated lower limbs, the situational future factor, past orientation factor, and situational and behavioral risk factor are represented. In cases of no amputated limbs, the combatants’ time perspective structure includes the factor of reflexive future perspective, factor of limited present fatalistic, and past orientation factor.

Received: 2024-06-24

Published online: 2024-07-31

DOI: 10.24075/brsmu.2024.028

Comments 0

VIEWS 1600

Nakonechnaya TO, Shagina IA, Myshkin MYu, Mutovina ZYu, Ryazantseva EV, Chudakov DM, Turchaninova MA, Britanova OV

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by inflammation of connective tissue and damage to various organs, including joints, skin, kidneys and heart. The disease has a significant gender predisposition and is more common in women. The pathogenesis of SLE is based on a violation of immunological tolerance, accompanied by activation of B lymphocytes and the production of autoantibodies. Recent advances in basic research have significantly deepened the understanding of the immunopathogenetic mechanisms of SLE, which justifies the use of new pharmacotherapeutic approaches. These approaches involve the use of biological drugs aimed at blocking the activity of type I interferon (IFN) or its receptors. The article discusses the molecular mechanisms of activation of the interferon response in SLE, modern methods for diagnosing the interferon signature, and new approaches to treatment aimed at blocking the interferon pathway. The possible role of the interferon signature in the stratification of SLE patients is also discussed. Such stratification will make it possible to more effective select treatment regimens taking into account the individual characteristics of the immune response of each patient. This may increase the effectiveness of treatment, reduce the likelihood of side effects and improve the prognosis for patients with SLE.

Received: 2024-06-24

Published online: 2024-06-30

DOI: 10.24075/brsmu.2024.027

Comments 0

VIEWS 1971

Razenkova VA, Kirik OV, Pavlova VS, Korzhevskii DE

The Iba-1 protein is traditionally considered a highly selective marker of microglia because of the specific expression of the gene in this particular population of the CNS cells. Alternative splicing creates several isoforms of the Iba-1 protein, which may cause discrepancies in the results of immunohistochomic reactions depending on which epitopes of the immunogen the antibodies selected for the study were developed. In this connection, and with the aim at identifying reliable variants of antibodies to Iba-1 available to researchers in the Russian Federation, we organized with study, seeking to evaluate the results of detecting microglia and macrophages using antibodies to different protein sequences produced by different manufacturers. As material, we used samples of the brain and testis of sexually mature (3–5 months) male Wistar rats (n = 8). Polyclonal and monoclonal (clone JM36-62) antibodies to Iba-1 were used as primary reagents. We found that monoclonal antibodies of the JM36-62 clone enable more selective antigen detection with a better signal/background ratio; they can be used as replacements for reagents that are currently not available commercially. Polyclonal antibodies enabled not only immunospecific imaging of microglia and macrophages, but also the identification of cells of the epithelial-spermatogenic layer of the testis. It is assumed that epithelial-spermatogenic layer contains the Iba-1 isoform devoid of an epitope that corresponds to the sequence of the immunogenic antibody clone JM36-62 fragment of the native protein. Functionally, various isoforms of Iba-1 should be investigated further.

Received: 2024-05-17

Published online: 2024-06-29

DOI: 10.24075/brsmu.2024.026

Comments 0

VIEWS 1676

Zinchenko RA, Tebieva IS, Gabisova YuV, Shukan EYu, Khokhova AV, Marakhonov AV, Kutsev SI

Currently, there are more than 8000–10000 rare disease (RDs), among which 75–80% are hereditary. In the Russian Federation (RF), patients are provided medical care in accordance with two lists: 17 chronic progressive and life-threatening diseases (RLTDs) and 14 high-cost nosologies (HCNs). The study was aimed to assess the range, prevalence, and genetic epidemiological characteristics of the RDs from the lists of RLTDs and HCNs in the Republic of North Ossetia–Alania and RF in general. We determined the number of patients from the RLTD (a total of 18,744 people in the RF, among them 8713 children; 129 and 42 people, respectively, in the Republic of North Ossetia–Alania) and HCN (28727 people/13454 children in the RF; 554 and 64 in the Republic of North Ossetia–Alania) lists and calculated the prevalence per 100,000 population. The global prevalence of RDs was estimated using the Orphanet database. The average prevalence of RLTDs in the whole population of the RF was 11.51 cases and that among children was 25.08. Similar data were obtained for the Republic of North Ossetia–Alania (19.38 and 29.44, respectively). It was found that idiopathic thrombocytopenic purpura, disorder of the complement system, maple syrup urine disease, porphyria were more common in the Republic of North Ossetia–Alania than in the RF in general, while galactosemia was less common. The analysis of disorders from the RLTD list has shown lower prevalence of hemophilia and pituitary dwarfism in the Republic of North Ossetia–Alania compared to the RF and Orphanet, along with the higher prevalence of type VI mucopolysaccharidosis, hemolytic uremic syndrome, and systemic juvenile rheumatoid arthritis. In the Republic of North Ossetia–Alania, the features of the range of genetic variation in the genes РАН (phenylketonuria) and CFTR (cystic fibrosis) have been identified. Thus, assessment of the RD prevalence in the regions is important and essential for raising awareness of medical personnel, as well as for expansion and improvement of medical care provision to patients with RLTDs and HCNs.

Received: 2024-05-08

Published online: 2024-06-26

DOI: 10.24075/brsmu.2024.025

Comments 0

VIEWS 1909

Konyukhova TV, Trukhina EV

Thiamine responsive megaloblastic anemia (TRMA), or Rogers syndrome, is a rare autosomal recessive disease characterized by the development of megaloblastic anemia, diabetes mellitus, and progressive sensorineural hearing loss. In some cases, the syndrome causes ophthalmological disorders (retinitis pigmentosa, optic nerve atrophy, maculopathy, nystagmus), heart diseases (paroxysmal atrial fibrillation, supraventricular tachycardia, congenital heart defects, intracardiac conduction disorders) and neurological disorders (epilepsy, cerebrovascular accidents). TRMA develops due to a mutation in the SLC19A2 gene, which encodes ThTr-1 (thiamine transporter protein) expressed in hematopoietic stem cells, pancreatic beta cells, and inner ear cells. The article presents a clinical case of TRMA in a three-year-old child, with the onset in the first year of life, manifesting as anemia and diabetes mellitus. Thiamine therapy ensured a pronounced positive dynamics: the patient's peripheral blood parameters normalized. The clinical description and the literature review herein aim to raise awareness of doctors of all specialties about this syndrome. An atypical clinical picture and lack of knowledge about TRMA often delay the diagnosis and start of therapy.

Received: 2024-05-16

Published online: 2024-06-24

DOI: 10.24075/brsmu.2024.024

Comments 0

VIEWS 2063