
Scientific journal – Russian Journal of Personalized Medicine
A dedicated team of Russian scientists and medical experts from the institutions that form part of the World-Class Research Centre (Almazov Centre and the Institute of Experimental Medicine) created the scientific journal – Russian Journal of Personalized Medicine in 2021.
The Editor-in-Chief is Evgeny Shlyakhto, Director General of Almazov National Medical Research Centre, Academician of the Russian Academy of Science.
The journal focuses on prominent topics of medicine such as genetic risks and causes of diseases, epigenetics, biomarkers of disease and health, microbiota and antimicrobial therapy, targeted therapy, pharmacogenetics and pharmacogenomics, gene therapy and genome editing technologies, artificial intelligence and machine learning as a tool for personalized medicine.
The journal aims to help scientists timely share their research results with the professional community and present the updates on current research and developments.
Current issue
НЕЙРОХИРУРГИЯ
This article is devoted to the main issues related to the development of epileptic seizures in patients with meningiomas of the brain. The genetic aspects associated with the formation of meningioma in patients and the features of the localization and degree of malignancy of the tumor in each individual genomic subgroup are disclosed. The factors that play a major role in the occurrence of pre- and postoperative epileptic seizures are also named. Surgical resection of meningiomas remains a crucial factor in the treatment of patients with disabling symptoms at the moment. But also, an important topic touched upon in this article is the need for further research into the specifics of prescribing antiepileptic therapy to patients in the pre- and postoperative period, which mainly consist in correctly setting the dosage and timing of taking drugs, which may change the perception of the effectiveness of relieving epileptic seizures.
ONCOLOGY, RADIATION THERAPY
Modern oncology is faced with the problem of treating malignant neoplasms in patients with severe cardiovascular diseases, such as heart failure, coronary heart disease, hypertension, cardiomyopathy and rhythm disorders. Antitumor therapy (chemotherapy, targeted drugs, immunotherapy, radiation therapy) can exacerbate cardiovascular risks, which requires a special approach to the choice of treatment, minimizing risks and maintaining the effectiveness of antitumor therapy.
Introduction. Personalized medicine is a revolutionary approach to treatment based on the fact that genetic characteristics, physiological processes, environmental influences and lifestyle form an individual profile that must be taken into account when developing a treatment strategy. This is especially true in diseases with a complex pathogenesis and low effectiveness of standard treatment methods, for example, in gliomas with a high degree of malignancy. Gliomas, which occupy up to 46 % of all tumors of the CNS, pose a serious problem for oncology. Even with the use of combination therapy, including surgery, radiation and chemotherapy, the five-year survival rate of patients remains extremely low, and does not exceed 10 %. This tragic statistic pushes researchers to search for new, more effective treatments. Aim. To substantiate the expediency of using cellular immunotherapy, as well as allogeneic (donor) immunocompetent cells injected directly into the cerebrospinal fluid in patients with recurrent gliomas. Materials and methods. A group of five patients aged 2 to 16 years was formed: three were diagnosed with anaplastic astrocytoma (AA), one of the most common forms of gliomas. One patient suffered from glioblastoma multiforme (MG), the most aggressive and fastest-growing form of glioma, and he had a third recurrence of the disease, indicating a high degree of tumor resistance to previous treatments. The fifth patient was diagnosed with diffuse glioma (DG) of the brain stem, the localization of which excluded surgical intervention. The average time to the first relapse in patients was 12 months (4–16 months), to the second — 5 months (1–8 months). This illustrates the rapid progression of the disease and the critical need for new treatment strategies. The immunotherapy protocol used in the study consisted of two main components. First, patients were given an autologous vaccine based on dendritic cells (DV), specialized cells of the immune system capable of “presenting” tumor antigens to T lymphocytes, activating the immune response against malignant cells. The use of autologous dendritic cells minimizes the risk of rejection and side effects. Secondly, intrathecal/intraventricular injections of allogeneic immunocompetent cells were an important component of therapy. This is a key point of the study, since the introduction of donor cells directly into the central nervous system allows for a high concentration of immune cells in the tumor area, enhancing the antitumor effect. Results. Two out of three AA patients achieved a significant interval without disease progression — 67 and 71 months, respectively. These data indicate a potentially high efficacy of the combined immunotherapy used. Moreover, a patient with a third MG relapse who has exhausted standard treatment options is alive without additional therapy after 15 years. Conclusion. Since the data are based on a small number of patients, further studies are needed to confirm the efficacy and safety of this method. Further research should focus on optimizing the treatment protocol, identifying the most effective cell combinations, and increasing the patient sample to obtain more reliable statistical data.
DIAGNOSTIC RADIOLOGY
Mine blast injuries are among the most severe types of combat and peacetime injuries. In most cases, the main localizations of damage are limb wounds. This article discusses current approaches to visualization of mine blast injuries of the limbs, diagnostic capabilities and features of application in clinical practice.
INTERNAL MEDICINE
Background. Сardiovascular diseases (CVDs) remain the leading cause of disability and mortality worldwide. Dyslipidemia is a major risk factor for CVD, with familial hypercholesterolemia (FH) being the most common hereditary form. Despite its high prevalence, timely identification of FH remains remarkably low. Some pilot studies have shown that lysosomal acid lipase deficiency (LAL-D), a rare disorder requiring differential diagnosis from type IIa dyslipidemia, may be underrecognized. Objective. To present the results of lipid profile analysis in 1,000 primary school-aged children (9–11 years) who underwent universal screening in Saint Petersburg. Design and methods. A total of 1,000 children aged 9 to 11 years 11 months and 30 days were examined. The study design included assessment of anthropometric parameters and total cholesterol (TC) levels in capillary blood. In cases of hypercholesterolemia, family history, comprehensive biochemical blood analysis, and carotid artery duplex scan were performed, along with exclusion of secondary causes of dyslipidemia. When indicated, lysosomal acid lipase (LAL) activity and genetic testing were conducted. Results. The cohort comprised 44.5 % girls and 55.5 % boys. The mean capillary blood TC level was 4.04 ± 0.94 mmol/L (range: 2.43–10.9 mmol/L). Among the 1,000 children, 87 (8.7 %) had TC >5.2 mmol/L: 50 boys (57.5 %) and 37 girls (42.5 %), with a median TC of 5.61 ± 1.02 mmol/L (range: 5.2–10.9 mmol/L). According to Simon Broome criteria, 8 children (0.8 %) with TC 7.95 ± 1.35 mmol/L and LDL-C 6.11 ± 0.71 mmol/L were diagnosed with FH; pathogenic or likely pathogenic mutations in the LDLR gene were confirmed in 4 children. LAL-D was excluded in all 8 children (100 %). Conclusion. These findings underscore the necessity of universal screening and lipid profile assessment in the pediatric population.
Successful treatment of the most mental disorders requires selection of the most effective and safe psychopharmacotherapy that allows achieving satisfactory patient compliance. However, despite the emergence of new generations of psychotropic drugs, the problem of insufficient efficacy and adverse drug reactions remains unresolved. About a quarter of the total variability in response to psychotropic drugs is of genetic origin. Determination of individual characteristics of the patient’s genotype is possible using pharmacogenetic testing — identification of specific genotypes based on polymerase chain reaction. The review analyzes and summarizes the results of domestic and foreign studies of the role of pharmacogenetic testing in determining the polymorphism of genes that affect the metabolism of psychotropic drugs by changing the activity of cytochrome р450 isoenzymes and transporter proteins. Key enzymes of the metabolism of antipsychotics and antidepressants registered for use in Russia are presented. The prospects of various options for pharmacogenetic testing in reducing the risk of potentially fatal complications in the selection of psychopharmacotherapy in clinical practice are assessed. The possibility of conducting pharmacogenetic testing at the initial stages of therapy is a promising direction for improving psychiatric care, corresponding to the modern paradigm of personalized medicine.
INFECTIOUS DISEASES
Background. Currently, the proportion of pneumonia of mycoplasma etiology (24 %) is increasing in the structure of all laboratory-confirmed cases of community-acquired pneumonia, which requires adjustment of empirical antibiotic therapy, taking into account the current flora, to accelerate recovery and reduce the risk of complications. Objective: to analyze the case histories of patients with pneumonia from January 2024 to November 2024. Analyze antibiotic therapy. Materials and methods. A retrospective analysis of the case histories of patients with pneumonia who are in the therapeutic department from 01.01.2024 to 30.11.2024 was carried out, and the Spearman’s rank correlation coefficient was calculated. Results. To conduct the study, data from 187 case histories of patients with community-acquired pneumonia were collected and retrospectively analyzed. Women (57 %), young patients aged 18–44 years (42 %) and middle-aged patients 45–59 years (25 %) were more likely to get sick, the course of the disease was predominantly severe (95.7 %). Correlations were revealed: severe course in young/middle-aged (coefficient 0.935), smokers (0.572) and HIV-infected (human immunodeficiency virus) (0.857). Every second patient had damage to the lower lobe of the lungs. One in four has multilobular lung damage. In most cases, in 152 patients (81.2 percent), a combination of levofloxacin and ceftriaxone was used to treat pneumonia. This combination was effective in 143 patients (94 %), the rest needed a change in antibiotic therapy. The average age of patients with no effect from combination therapy (levofloxacin + ceftriaxone) is 61 years, with a minimum age of 30 years and a maximum age of 88 years. Pneumonia with an atypical clinical presentation (young and medium age of patients, low-grade fever, headaches and muscle pains, absence of chest pain, catarrhal manifestations, non-productive cough) were detected, but laboratory confirmation of the presence of an atypical pathogen was not obtained. Antibiotic therapy (levofloxacin + ceftriaxone) was chosen due to the fact that the analyzed period coincided with the period of the epidemic of mycoplasma pneumonia, recorded by the medical company INVITRO. The analysis revealed the ratio of pneumonia to typical and atypical clinics: 72 % to 28 %. Conclusion. Analysis of case history data showed an increase in cases of pneumonia with an atypical clinic, for which the most effective combination of antibiotic therapy: levofloxacin and ceftriaxone. In addition, the combination of amoxicillin and clavulanic acid used at the outpatient stage did not affect the course and did not shorten the duration of hospitalization. Early detection of pneumonia with an atypical clinical presentation requires a comprehensive approach, including a thorough medical history, assessment of clinical symptoms, laboratory and instrumental tests, as well as a PCR (polymerase chain reaction) test for atypical flora. Timely diagnosis and the right choice of antibiotics will reduce the duration of hospitalization, reduce the number of complications and improve treatment outcomes, especially in young and middle-aged patients, where the course of the disease was more severe.
CARDIOLOGY
Background. The presence of persistent dysfunctions of the body of moderate, severe and significantly severe degrees after a heart transplant, as well as limitations in life activities, is the basis for referring the patient for a medical and social examination. Objective. To study the clinical, functional and expert parameters of patients after orthotopic heart transplantation referred to the bureau of medical and social examination. Materials and methods. A retrospective analysis of “Referrals for medical and social examination by a medical organization” (form N088/u) and “Acts of medical and social examination” was performed in 40 patients referred for medical and social examination. 12 (30 %) patients were examined initially, 28 (70 %) were re-examined. Results. In the late postoperative period, chronic heart failure stage I was diagnosed in 25 patients (73.5 %), stage II A — in 6 (17.6 %), stage II B — in 2 (5.8 %), and stage III — in 1 (3.1 %) person. Severe paroxysmal heart rhythm disturbances were detected in 15 patients (37.5 %). In 7 patients (17.5 %), hemodynamically significant stenosis of the coronary arteries was determined after heart transplantation. Before the operation, the left ventricular ejection fraction was significantly reduced in all patients (mean value — 25 %), after the operation, in most cases, an increase in myocardial contractility was noted (mean value of the ejection fraction — 65 %), which confirmed satisfactory function of the transplant. The degree of graft rejection was 0−1R, according to the results of histological examination. During the initial examination at the Bureau of Medical and Social Expertise, all patients were found to have persistent disorders of the blood and immune systems of the IV degree, and during the repeated examination, cardiovascular system disorders of the II−IV degrees, as well as limitations of life activities of the 1−3 degrees. According to current regulatory documents, all initially examined patients after heart transplantation, due to significant impairments of the blood and immune systems and limitations of the main categories of life activities, have been assigned Group I disability for 2 years. During the repeated examination after 2 years of observation, moderate cardiovascular dysfunctions (quantitative assessment 40−60 %) and limitations of life activity 1st degree were detected in 25 (89.2 %) patients, they were recognized as disabled persons of group III. Severe dysfunctions of the body (quantitative assessment 70−80 %) and limitations of life activity 2 degrees were observed in 2 patients (7.1 %), who were recognized as disabled persons of group II. Significantly pronounced dysfunctions of the cardiovascular system and limitations of life activity 3 degrees were determined in one patient (3.7 %) (quantitative assessment 90−100 %), who was assigned to group I disability. Conclusion. Heart transplantation is an effective method of treating patients with terminal chronic heart failure, however, in some cases, complete rehabilitation of patients cannot be achieved due to deterioration of the function of the cardiac transplant.
ISSN 2782-3814 (Online)