RUDN Journal of Medicine

 

EDITOR IN CHIEF

Zhanna D. KOBALAVA, Corresponding Member of the Russian Academy of Sciences, MD, Professor, Head of the Department of Internal Medicine with a course of cardiology and functional diagnostics named after V.S. Moiseev, Medical Institute, RUDN University, Moscow, Russia;

 

DEPUTY EDITORS-IN-CHIEF

 

Timur Kh. FATKHUDINOV, MD, Professor, Avtsyn Research Institute of Human Morphology of Federal state budgetary scientific institution "Petrovsky National Research Centre of Surgery", Moscow, Russia

Svetlana V. GURYANOVA, PhD, Associate Professor, Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry,   Russian Academy of Sciences, Moscow, Russia.

 

ISSN: 2313-0245 (Print) ISSN: 2313-0261 (online)

Founded in 1997. Publication frequency: quarterly.

Open Access: Open Access. APC: no article processing charge

Peer-Review: double blind. Publication language: Russian, English

PUBLISHER: Peoples’ Friendship University of Russia named after Patrice Lumumba (RUDN University)

Journal History

Indexation: Russian Index of Science Citation, Google Scholar, Ulrich's Periodicals Directory, WorldCat, East View, Dimensions, DOAJ, Lens, Research4Life, ResearchBib, JournalTOCs, British Library, Bodleian Libraries (University of Oxford), Ghent University Library 

The “RUDN JOURNAL OF MEDICINE” is a quarterly journal that publishes peer-reviewed medical research papers since 1997. A major goal of the journal is to integrate the results of fundamental and clinical research and rich experience of Russian and foreign experts in the field of clinical medicine, biomedical problems and global health.

The mission of the journal is to integrate the results of scientific work of scientists and the rich clinical experience of specialists into the international scientific space, to be an international scientific platform for doctors and scientists, to discuss and exchange experience in the field of healthcare, as well as to raise the level of scientific research and develop international scientific cooperation.

Aims and Scope. The Journal is aimed at cooperation and scientific exchange in the field of biomedicine, publication of the results of fundamental and applied researches of Russian and foreign scientists. Primary areas covered range from oncology, physiology and neurobiology, allergology and immunology, to medical genetics and microbiology, as well as infectious diseases. Each issue is devoted to a specific medical topic that is announced in advance. The invited editors of the issues are both Russian and foreign scientists.

We accept original research including reviews, important new tools and techniques, and clinical cases.   Papers may be submitted in Russian and/or English.  Authors must ensure that the article was not published elsewhere before, either as a whole or in part, in Russian or other languages. They should also guarantee that the paper submitted is not under consideration in other scientific journals. The journal is intended for researchers, lecturers, graduate students and young scientists, practitioners who do research to develop new and improve existing preventive, diagnostic, therapeutic and rehabilitation methods. The Editorial Board of the journal encourages individual researches and research teams to collaborate in preparing issues devoted to specific topics: http://journals.rudn.ru/medicine/announcement/view/327

The journal strictly adheres to the international standards of publication ethics formulated in the COPE document (Committee on Publication Ethics) http://publicationethics.org

Articles are accepted for publication provided that the requirements for the design of manuscripts are met, the procedure for internal examination and external double-blind peer review is successfully passed, the material complies with international standards of publication ethics, and the requirements for the design of bibliographic references are met. The journal does not guarantee acceptance of an article for publication or a very short review period.

When preparing a manuscript for submission, as an example of design, you should pay attention to the articles from the current issue.

Contact e-mail: medj@rudn.ru

Announcements

 

Plan for the release of issues of the journal "RUDN Journal of Medicine" in 2024:

Posted: 30.12.2023

No. 1 - March 2024,

No. 2 - June 2024,

No. 3 - September 2024,

No. 4 - December 2024.

The journal is included in the database Scopus

Posted: 05.09.2023

RUDN Journal of Medicine is included in the Scopus database in July 2023. Publications of 2019-2023 issues are indexed.

 
More Announcements...

Current Issue

Vol 28, No 2 (2024): CARDIOLOGY

CARDIOLOGY

Prognostic value of Charlson comorbidity index in patients admitted with acute myocardial infarction
Hoang T.H., Maiskov V.V., Merai I.A., Kobalava Z.D.
Abstract

Relevance. To investigate the prognostic value of the Charlson Comorbidity Index (CCI) and its components in assessing outcomes related to in-hospital and 18‑month mortality and to determine additional prognostic value when incorporating them into the GRACE score among patients with acute myocardial infarction (MI). Material and methods. A prospective study enrolled 712 patients diagnosed with acute MI who underwent coronary angiography within 24 hours of hospitalization. Results and Discussion. Of the patients, 61 % were male, median age 65 (interquartile range [IQR] 56–74years). In-hospital and 18‑month mortality rates were 5.1 % (n     =     36) and 12.1 % (n     =     86), respectively. Median GRACE, CCI scores were 117 (IQR: 98–141), and 4 (IQR: 3–6) respectively. Common comorbidities within the CCI components included previous MI (21.8 %), diabetes mellitus (21.1 %), chronic pulmonary disease (16.2 %), dementia (9.2 %), peptic ulcer disease (9.1 %), renal failure (8.6 %). Factors associated with in-hospital and 18‑month mortality included chronic lung disease (odds ratio [OR]     =     4.21 and 2.04, respectively) and renal failure (OR     =     3.51 and 1.99, respectively) after adjusting for GRACE score. Dementia (OR 2.10; 95 % confidence interval [CI] 1.11–3.97) was a significant risk factor for 18‑month mortality. CCI was associated with in-hospital and 18‑month mortality (GRACE-adjusted OR 1.29, 95 % CI:1.07–1.57, p     =     0.001 and 1.37, 95 % CI (1.20–1.57, p     =     0.001, respectively). CCI demonstrated good predictive ability for in-hospital mortality (area under the ROC Curve [AUC]: 0.826) and modest performance for 18‑month mortality (AUC: 0.797). Adding chronic lung disease, renal failure in the GRACE score significantly improved the predictive efficacy for in-hospital mortality, with an AUC of 0.932 (95 % CI: 0.905–0.959, p =  0.001). Including CCI in the GRACE score enhanced the prediction efficiency for 18‑month mortality (AUC 0.819, 95 % CI: 0.768–0.871, p = 0.001). Conclusion. The CCI demonstrated moderate prognostic value in assessing in-hospital mortality among patients with acute MI and good predictive ability for long-term mortality. The CCI and its components (chronic lung disease, renal failure) added prognostic significance in addition to the GRACE score for predicting both short-term and long-term adverse outcomes.

RUDN Journal of Medicine. 2024;28(2):133-141
pages 133-141 views
Association of beta-3 integrin level with the presence and severity of coronary atherosclerosis in patients with chronic ischemic heart disease
Kalatsei L.V., Sagun Y.R.
Abstract

Relevance. Integrin beta‑3 is a critical molecule in several processes involved in the progression of atherosclerosis and coronary artery (CA) stenosis. Aim of the study is to identify the relationship between the serum level of integrin beta‑3 and the presence and severity of coronary atherosclerosis in patients with chronic coronary artery disease. Materials and methods. We examined 100 patients with chronic coronary artery disease who were referred for diagnostic coronary angiography (CAG) to verify the diagnosis of stable angina. All patients underwent instrumental and laboratory research methods, including determination of the levels of lipid fractions of blood serum using an enzymatic colorimetric method, as well as the level of beta‑3 integrin in blood serum using an enzyme-­linked immunosorbent assay. Statistical analysis was performed using the STATISTICA 12.0 package. Results and Discussion. According to the results of CAG, 32 patients did not have hemodynamically significant coronary lesions (coronary stenosis  < 50 %) (group 0), 32 patients had single-­vessel coronary lesions (stenosis > 50 %) (group 1) and 36 patients had multi-­vessel coronary lesions (group 2). Patients with multi-­vessel coronary artery disease were characterized by higher functional class of stable angina and degree of arterial hypertension, more often suffered a myocardial infarction and had a history of type 2 diabetes mellitus compared to patients without coronary lesions (p < 0.05). Patients in the group 0 had a lower level of integrin beta‑3 compared to patients of group 1 (p = 0.006) and group 2 (p = 0.002). Integrin beta‑3 level ≥92 pg/ml can be used to predict the development of stenotic coronary atherosclerosis (RR = 2.84; 95 % CI 1.54–5.22, p = 0.008). Conclusion. The results obtained indicate the important role of integrin beta‑3 in the pathogenesis of obstructive atherosclerotic lesions of the coronary arteries.

RUDN Journal of Medicine. 2024;28(2):142-152
pages 142-152 views
Hypolypidemic therapy in the XXI century: what is new?
Ob’edkova N.Y., Usacheva D.N., Mal G.S., Ob’edkov E.G.
Abstract

Relevance. The leading position in mortality throughout the world is occupied by cardiovascular diseases, caused be atherosclerosis process. Statins used to be the gold standard of lipid-lowering therapy for a long time due to their high efficacy, optimal tolerance and safety. Nowadays it has been proved that statins reduce low-density lipoprotein levels in high doses by more than 50 %, in medium doses for about 30–49 %. However, often achieving the target level of lipoproteins is not possible due to a variety of reasons, what became a motivation for creating new drugs. The evidence base for the newest lipid-lowering drugs, some of which have already been approved for clinical use according to the publications in the scientific databases Scopus, PubMed, Web of Science for last 10 years. Main results of the most significant clinical trials of drugs’ effectiveness and safety are described including medicines: alirocumab, inclisiran, bococizumab, pelacarsen, mipomersen, bempedoic acid, lomitapide, evinocumab and also methods of therapeutic lipoprotein apheresis. Dyslipidemia pathogenetic points are considered like inhibition of proprotein convertase subtilisin-kexin type 9, suppression of genes synthesizing lipoprotein (a) by antisense oligonucleotides, cholesterol synthesis suppression by inactivation of adenosine triphosphate-citrate lyase enzyme; the action of microsomal inhibitors of triglyceride transfer protein. Conclusion. Searching for new lipid-lowering rational regimens is still ongoing, therefore it is necessary to carefully analyze effectiveness and safety profile for the newest drugs. Some of them like inhibition of proprotein convertase subtilisin-kexin type 9 are actively used in medicine today, while others, the most promising, will be in the future. Ensuring of atherogenic lipoproteins complete control will subsequently make a significant contribution to the primary and secondary cardiovascular diseases prevention, which will save many human lives.

RUDN Journal of Medicine. 2024;28(2):153-171
pages 153-171 views
Stroke risk factors in Bujumbura
Nduwayo D., Havyarimana L., Sibomana T.
Abstract

Relevance. Stroke is a public health problem, with over 90 % of cases worldwide attributable to a combination of individual clinical or behavioural risk factors, which are generally classified as non-modifiable and modifiable risk factors. The aim of this study was to determine the stroke risk factors prevalent among stroke patients in Bujumbura, the economic capital of Burundi. Materials and Methods. This was a descriptive and prospective study performed over a 6-month period from February to August 2020. 71 stroke patients who were hospitalized for a stroke confirmed by cerebral CT scan in the two teaching hospitals of Bujumbura were collected. Results and Discussion. Stroke risk factors were frequently found among stroke patients in Bujumbura. In fact, 91.55 % had at least one risk factor for stroke, with an average of 2.86 per patient. These factors are mainly cardiovascular (91.62 %), with hypertension accounting for the largest share (46.48 %), followed by regular alcohol consumption (33.80 %). Age was the most common non-modifiable risk factor in these patients, with 73.25 % aged over 50 and an average age of 59.87. There was a predominance of male patients, the sex ratio was 1.29. As in the literature, ischemic stroke predominated (69.01 %), while the recurrence rate was 14.6. Other risk factors that were found to be significant were sedentary lifestyle (26.76 %), diabetes (16.90 %), obesity (8.45 %) and smoking (5.63 %). The positive HIV/AIDS seroprevalence rate was 8.5 %, whereas the national prevalence rate was 2.97 %. Conclusion. Risk factors for stroke are found in the large majority of patients in Bujumbura. They are diverse, but are mainly dominated by cardiovascular pathologies, in particular hypertension.

RUDN Journal of Medicine. 2024;28(2):172-177
pages 172-177 views
Respiratory dysfunction prediction in patients after the left ventricle geometric reconstruction
Alshibaya M.M., Mamalyga M.L., Zatenko M.A., Danilov S.A., Slivneva I.V.
Abstract

Relevance. One of the most common complications after cardiac surgery is respiratory dysfunction (RD). The high-risk group includes patients after the left ventricle geometric reconstruction (LVGR) due to the presence of chronic heart failure, as well as the complexity and extent of the surgical intervention. At the moment, in clinical practice there is no uniform approach to predicting RD in patients in this group. The aim: to identify predictors of the development of RD in the early postoperative period in patients after LVGR. Materials and methods. The study included 54 patients who underwent LVGR surgery. Two groups of patients were identified: group I — patients without respiratory complications in the early postoperative period (n  =  34); group II — patients with RD in the early period (n  =  20). Cardiac function, respiratory system and gas exchange parameters were assessed in the pre- and early postoperative period. Results and Discussion. Echocardiography and spirometry indices in the group with RD were reduced before surgery relative to group I (FVC by 10.9 %, p  =  0.009; EDV by 27 %, p  =  0.004). Patients with RD on the first day after surgery were characterized by a pronounced disturbance in gas exchange compared to patients in group I (PaO2/FiO2 decreased by 45.1 %, p  <  0.001; Qs/Qt increased by 71.4 %, p  <  0.001). A multifactorial model was developed, which included three basic predictors of RD development: FVC, FEF50 and EDV. With a decrease in model indicators by 1 %, the risk of developing RD increased by 33.5 %, 24.8 % and decreased by 6.5 %, respectively. According to ROC-analysis, the most significant indicators were FEV3 (AUC 0.829 ± 0.079) and EDV (0.838 ± 0.087). To assess the risk of developing RD, a classification tree was constructed. Node 7 is characterized by the highest risk with the following parameters: FVC ≤ 89.5 %, EDV  >  173.2 ml, FEF50 ≤ 78.9 %. Conclusion. Impaired gas exchange on the first day after surgery was detected in all studied patients, however, pronounced RD was observed precisely in patients with the most reduced parameters of the cardiorespiratory system before surgery. The developed model for predicting RD in patients after LVGR makes it possible to assess the risk of respiratory complications at the surgical planning stage and prepare the patient’s cardiorespiratory system for the upcoming surgical intervention.

RUDN Journal of Medicine. 2024;28(2):178-191
pages 178-191 views
Features of the nervous system of adolescents with different type of regulation of the heart rate
Yamanova G.A., Kudrin R.A., Antonova A.A.
Abstract

Abstract. One of the urgent problems of age-related physiology for a long time remains the study of the processes of functioning of body systems in adolescence. The study of the interrelationships of the regulatory mechanisms involved in the formation of an adequate adaptive response during this period is an urgent area of physiological research. Aim. To study the features of the functional capabilities of the nervous system of students of different ages, depending on the prevailing contour of heart rate (HR) regulation. Materials and Methods. The study was conducted among 323 male students of the Cossack cadet corps aged 10 to 17 years. The software complex “Health-express-2” (“Medical Computer Systems”, Russia) was used to register and analyze heart rate variability, as well as to assess the functionality of the nervous system. Results and Discussion. The students of the IV category of HR regulation may indicate an inadequate reaction of the nervous system, depending on the learning conditions. The age dynamics of indicators of the functional capabilities of the nervous system of students has similar changes for categories of rhythm regulation with a pronounced predominance of either the central contour or the autonomous contour. Conclusions. The significance of the influence of various departments of the autonomic nervous system is confirmed by age-related changes in the parameters of the functioning of the nervous system of students with different types of HR regulation. The results obtained allow us to conclude about the complex relationship between the functional capabilities and mechanisms of regulation of the body of students in the learning environment.

RUDN Journal of Medicine. 2024;28(2):192-205
pages 192-205 views

SOCIAL HEALTH AND HEALTH PROTECTION

Management structure and organization of oncological care
Kostin A.A., Samsonov Y.V.
Abstract

Relevance. Healthcare today faces the inevitability of change as it faces a wide range of challenges in the face of complete uncertainty. Through effective change management, success can be achieved in states, globalization and complementarity. The scientific community recommends developing approaches to changes in management that focus on coordinated work in the field of healthcare of personnel, continuous training, exchange of experience, and professional development of medical personnel not only as specialists in the field of oncology, but also as successful managers. It is also necessary not to ignore social factors, namely the so-called “power of compassion”, which is expressed in the introduction and improvement of palliative care. The purpose of this article is to analyze the structure of management and organization of cancer care and proposals for improving the quality of treatment and care for cancer patients. This publication is devoted to a comprehensive analysis of the problems and prospects for the development of cancer care. Oncology is considered by us as one of the largest health problems. In this regard, ideas have been proposed on the need to modernize and optimize the processes of providing oncological care. According to the literature, important aspects in this process are the coordination of the actions of medical personnel, both doctors and nurses, and patients; their qualifications as oncology specialists and managers; provision and implementation of palliative care everywhere; quality control of provided medical services carried out directly by medical personnel. However, all of these components of the cancer care structure face the reality of a lack of actual time for medical personnel to train management skills, a lack of resources for regional health structures to implement palliative care and train staff in management skills. A positive aspect in this situation is the desire of the scientific community to improve itself and improve the skills of both oncologists and managers. Conclusion.The creation of specialized courses on management in the field of oncology and continuous international training through distance education and telemedicine is an important milestone in resolving these issues.

RUDN Journal of Medicine. 2024;28(2):206-215
pages 206-215 views
Cartograms in oncology: analysis of the regional situation
Samsonov Y.V., Kostin A.A.
Abstract

Relevance. Over the past few years, there has been a worldwide trend towards an increase in cancer morbidity and mortality. Health officials and epidemiology researchers often use disease maps to identify potential disease groups. Cartograms are cartographic images of various territories that contain information not about the area of the occupied territory, but about a variable of interest to the reader, for example, the population or a specific disease. This tool has been used for data visualization for more than a century, but right now it is becoming increasingly popular to display patterns and directions of changes in the world around us. The introduction of cartograms into the healthcare sector is gradual, depending on the results obtained in the development of various types of cartograms. It is difficult to fully assess the importance of collecting and analyzing information about the course of cancer. However, with the improvement of this system, good results can be achieved in preventing the occurrence of oncological diseases and increasing the level of cancer care provided. The purpose of this study is to analyze existing information about cartograms used in oncology. This publication discusses issues related to the need to use cartograms in oncoepidemiology, the causes of oncology, the advantages of using cartograms to consider a variety of diseases from simply infectious to HIV and technical issues related to geographical visualization, related problems and ways to solve them. Cartograms are a tool that clearly demonstrates the changes taking place in a small area, for example, in a certain area, within a large territory, for example, an entire republic in a format that can be perceived by all users and “readers” of cartograms. Conclusion. Oncology is a disease that spreads through the population by leaps and bounds. In this regard, it is necessary to collect as much statistical data as possible for more accurate predictions of the outcome of the disease, treatment of oncology and, most importantly, the preparation of preventive measures for this disease. Digitalization of healthcare in the form of digital cartograms will undoubtedly help in this.

RUDN Journal of Medicine. 2024;28(2):216-229
pages 216-229 views
Modern assessment of epidemiology and complications of gastric and duodenal peptic ulcer disease
Perehodov S.N., Milyukov V.E., Bartosh N.O., Krasnoperova M.S.
Abstract

Relevance. The high primary incidence of peptic ulcer in people of working age and frequent relapses with a complicated course are accompanied by temporary but quite long-term loss of ability to work, a decrease in labor productivity and quality of life of patients, as well as disability and mortality, which determines the important medical, social and economic status of this disease. In addition, a significantly increasing contribution of primary morbidity to the overall morbidity is made by pediatric patients, and the morbidity of elderly and senile people is growing. In the Russian Federation in 2019, 1,188,551 cases of peptic ulcer disease were registered, 101,680 (8.5 %) of which were diagnosed for the first time in life. According to recent studies, the lifetime prevalence of peptic ulcer disease in the general population of the Russian Federation is 5–10 %, and the annual incidence is 0.1–0.3 %.In the Russian Federation, the incidence of ulcer in children in the last decade is 1100–1500 cases per 100,000 children. In 81–87 % of children, the localization of a newly detected ulcerative defect is determined in the duodenal zone, in 11–13 % — in the stomach wall, and in 4–6 % of children, a combination of ulcer localization in the stomach wall and duodenal zone is noted. The number of complications in the form of bleeding is recorded with an annual frequency of 19 to 57 per 100,000 people. (from 0.02 to 0.06 %). The number of complications in the form of perforation ranges from 4 to 14 cases per 100,000 people. (from 0.004 to 0.014 %). Mortality from complications of peptic ulcer and erosive and ulcerative lesions of the stomach and duodenum is 7.7 % of all deaths caused by diseases of the digestive system. Conclusion. Peptic ulcer disease currently remains one of the diseases of the human digestive system that requires studying the accumulated experience of domestic and foreign medicine and further multidisciplinary research to improve treatment results for this category of patients, and the epidemiology of gastric and duodenal ulcers continues to be of interest, both scientifically and from a practical point of view. 

RUDN Journal of Medicine. 2024;28(2):230-245
pages 230-245 views

CYTOLOGY

Traumatic brain injury: basic cellular mechanisms and new approaches to therapy
Sudina A.K., Grinchevskaia L.R., Goldstein D.V., Fatkhudinov T.H., Salikhova D.I.
Abstract

Relevance. Traumatic brain injury (TBI) is a serious medical problem and one of the leading causes of disability and mortality among military personnel and civilians. It is known that about 1.5 million people in the world die from TBI every year, while about 2.5–3 million lose work capacity. In Russia, one million people are diagnosed with TBI every year, among which one in five gets group I or II disability. Despite significant efforts in research, effective TBI treatment methods are still limited, as TBI leads to a wide range of pathological changes in brain tissues. Primary brain damage is an acute and irreversible mechanical damage to the parenchyma of the nervous tissue. Among subsequent secondary processes are excitotoxicity, mitochondrial dysfunction, oxidative stress, axon degeneration, and neuroinflammation. These processes are often long and can take from several days to several years. Recent advances in cell therapy are opening up new perspectives for the treatment of this condition. The current review examines the main cellular mechanisms of TBI acute and chronic phases, as well as the treatment prospects for the use of stem cells for. Analysis of recent studies on the use of cell therapy in TBI is presented. Various types of stem cells such as neural stem cells, mesenchymal stromal cells and others are considered in the context of their potential to repair damaged brain tissues. Special attention is paid to the cells action mechanisms in the regeneration process, including their effect on inflammation, neurogenesis, and synaptic plasticity. The issue of using paracrine factors secreted by stem cells as a potential drug for traumatic brain injuries treatment is addressed. Conclusion. Сell therapy, as well as the use of products secreted by cells, is one of the new and promising ways of treating TBI.

RUDN Journal of Medicine. 2024;28(2):246-255
pages 246-255 views

IMMUNOLOGY

Role of Semax and Selank neuropeptides in modulating cell-mediated immunity in the setting of skin burn injury
Azhikova A.K., Samotrueva M.A., Andreeva L.A., Myasoedov N.F.
Abstract

Relevance. The work describes the results of neuropeptide compounds Semax and Selank in modulating disorders of the cellular link of immunity under experimental burn exposure. The aim — to study the effect of Semax and Selank on the number of white blood cells and phagocytic activity of neutrophils of white rats under experimental burn exposure. Materials and Methods. Burn injury in male rats of 6–8 months of age was modeled by expo animals; animals exposed to burns and not treated burn-exposed animals treated with Semax; animals exposed to burn and treated with Selank. Neuropeptide injections at 100 μg/kg/day were performed intraperitoneally daily for 14 days from thermal burn simulation. To study the immunity parameters, the number of white blood cells and the percentage of lymphocytes, rod and segmented neutrophils were calculated, and the phagocytic activity of neutrophils was assessed. Results and Discussion. It was established that under the conditions of experimental burn exposure, there is an increase in the parameters of the cellular link of immunity: phagocytic activity of neutrophils, phagocytic index, phagocytic number, leukocytic coefficient and number of leukocytes. The activation of granulocyte formation was evidenced by an increase in the rod-nucleating forms of leukocytes (shift of the leukocyte formula to the left). Intraperitoneal injections of the neuropeptide drugs Semax and Selank against the background of thermal skin injury contributed to the correction of the observed changes in white blood parameters and functional neutrophil activity. Conclusion. Thus, under the conditions of a skin burn wound with the use of neuropeptide compounds Semax and Selank, dysfunctional transformations of immunocompetent cells are restored, which confirms the complex effect of Semax and Selank on systemic disorders against the background of local stress, namely, the manifestation.

RUDN Journal of Medicine. 2024;28(2):256-264
pages 256-264 views
Immunopathogenic features of hemorrhagic fever with renal syndrome as criteria for early immunodiagnostics
Ivanov M.F., Balmasova I.P., Malova E.S., Konstantinov D.Y.
Abstract

Relevance. Hemorrhagic fever with renal syndrome (HFRS) is a natural focal viral infection with a high probability of severe course, the possibility of death, a long recovery period after infection, low effectiveness of therapy and vaccine prevention. In the Russian Federation, HFRS is most often caused by the Puumala orthohantavirus. The aim of the study — to evaluate the immunophenotypic composition of lymphocytes and cytokine profile in the blood of patients with hemorrhagic fever with renal syndrome in comparison with acute respiratory viral infections and with the prospect of developing immunological criteria for early diagnosis of HFRS. Matherials and Methods. There were examined the blood of 24 patients with a verified diagnosis of HFRS who were hospitalized in the infectious diseases department of the Samara Medical University Clinics and admitted in the first days of the disease, 18 patients with acute respiratory viral infections of established etiology, as well as 15 healthy people. Results and Discussion. Analysis of the results of lymphocyte phenotyping and cytokine levels in the blood revealed that the percentage of B lymphocytes in the blood was >12.6 %, cytotoxic CD8+ T lymphocytes expressing the activating lectin receptor NKG2D (CD3+CD8+CD314+), >25 %, regulatory T cells with CD3+CD4+FoxP3+ phenotypes >7.8 % and CD3+CD8+FoxP3+ >9.5 %, as well as IL-6 >24 pg/ml, TNFß >55 pg/ml, IL-10 <11.3 pg/ml with high diagnostic significance, judging by the results of ROC analysis, indicates in favor of GLPS, but not ARVI. Conclusion. The results obtained can be used as criteria for early immunodiagnosis of HFRS. The development of a new hypothesis on the mechanism of CD8immunological memory formation may contribute to the discovery of new potential targets for HFRS immunotherapy and the creation of new principles for the production of vaccine preparations for the prevention of this disease.

RUDN Journal of Medicine. 2024;28(2):265-281
pages 265-281 views

MEDICAL GENETICS

Current aspects and approaches to molecular diagnostics of hereditary neuromuscular diseases
Fonova E.A., Zhalsanova I.Z., Skryabin N.A.
Abstract

Relevance. The problem of diagnosing hereditary neuromuscular diseases is one of the most difficult in the medical specialists’ practice. Molecular genetic diagnostics is one of the fundamental aspects in the classification and subsequent approaches to the treatment and prevention of hereditary diseases. Pathogenic variants identification leads to the formation of separate subtypes and phenotypically identical diseases syndromes. This review examines modern diagnostic methods and algorithmization of patients with neuromuscular diseases. Despite enormous research and clinical efforts, the molecular causes remain unknown for almost half of patients with neuromuscular diseases due to genetic heterogeneity and molecular diagnostics based on a gene-by-gene approach. Next-generation sequencing (NGS) is an effective and cost-effective strategy for accelerating patient diagnosis. However, the diagnostic value of conducting and prescribing whole- exome or whole- genome sequencing is largely dependent on the clinical picture of the disease and the professional competence of the doctor. Hereditary neuromuscular diseases have similar initial symptoms, and molecular genetic diagnostics can pinpoint the cause and pathogenesis of the observed disorders in the patient. Conclusion . The molecular diagnostics algorithm is based on sequential analysis, starting with the search for the most common pathogenic variants using inexpensive and rapid methods, and progressing to the search for rare, previously undescribed pathogenic variants using whole-g enome/whole-exome studies. The phasing allows science and medicine to uncover previously unknown causes of severe disease in patients with neuromuscular diseases, which often leading to disability or premature death. Earlier genetic diagnosis should provide more effective treatment of the disease and better genetic counseling for families and will also allow access to pathogenetic therapy for neuromuscular diseases.

RUDN Journal of Medicine. 2024;28(2):282-292
pages 282-292 views

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies