Scientific and practical peer-reviewed journal
Рецензируемый научно-практический журнал «Название журнала на русском» «Nazvanie zhurnala na russkom» зарегистрирован Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций 05 августа 2014 года (Свидетельство о регистрации ПИ № ФС 77-58913 — печатное издание и свидетельство, Эл № ФС 77-58914 — сетевое издание).
Тираж 1000 экземпляров, периодичность 4 выпуска в год.
Распространение – Российская Федерация, зарубежные страны.
Электронная версия журнала с мультимедийными приложениями доступна по адресу rpmj.ru.
Выходит при поддержке Министерства здравоохранения России и Федерального государственного бюджетного учреждения «Федеральный медицинский исследовательский центр имени П.А.Герцена» Министерства здравоохранения Российской Федерации.
Журнал «Исследования и практика в медицине» - профессиональное медицинское издание, в котором отражаются результаты новейших исследований в области медицинских наук, организации здравоохранения, фундаментальных и прикладных исследований.
В издании представлен уникальный клинический опыт как практических врачей, так и специалистов разных научных и клинических школ. Публикуются новости медицинского и фармацевтического сообществ, научно-практические статьи для целевой аудитории - врачей различных специальностей.
Журнал, в первую очередь, имеет практическую направленность и публикует статьи ведущих специалистов, освещающих актуальные проблемы клиники, диагностики и лечения широкого круга заболеваний, алгоритмы диагностики и терапии различных нозологий. В нем публикуются передовые и оригинальные статьи, краткие сообщения, заметки из практики, лекции и обзоры. Мы стремимся развивать принцип междисциплинарного подхода, делаем все возможное, чтобы наши читатели были в курсе современных достижений медицинской науки и практики, помогаем врачам в освоении современных принципов распознавания и лечения широкого спектра заболеваний.
Current issue
Vol 2, No 3 (2024)
LEADING ARTICLE
4-9 64
Abstract
A team of authors have conducted a study on the influence of multifactorial diseases of relatives of three generations of two lines of descent on the formation of perinatal pathology in children. To conduct the study, a special questionnaire was developed, consisting of 8 blocks, one of which allows to identify family perinatal problems. The analysis of the data obtained showed that an unfavorable perinatal period of parents increases the risk of having a child with perinatal pathology, and a family history of preterm birth increases the frequency of the birth of a premature child. The study revealed that the highest impact on the development of multifactorial diseases in adulthood is exerted by child health disorders in the perinatal period, such as prematurity, intrauterine hypoxia/asphyxia during childbirth, respiratory disorders and birth trauma. In turn, a multifactorial pathology in relatives, among which the most common are hypertension (18.7%), coronary heart disease (17.3%) and gastric ulcer (10.5%) with the burden increasing from generation to generation, serves as a risk factor for the birth of a child with perinatal pathology.
GASTROENTEROLOGY
A. I. Khavkin,
A. V. Naletov,
E. A. Balakireva,
N. A. Marchenko,
A. R. Alnajazhra,
A. K. Dzhabarova,
Yu. V. Kotova
10-14 65
Abstract
Psoriasis is a chronic inflammatory immune-mediated disease associated and often coexisting with another chronic inflammatory pathology associated with impaired immune response. Immuno-inflammatory diseases of the gastrointestinal tract are recorded with high frequency in patients with psoriasis. The data obtained from the studied literature confirm the connection between psoriasis and inflammatory bowel diseases, celiac disease, non-alcoholic fatty liver disease. The presence of common pathogenetic links, side effects from ongoing psoriasis treatment methods, indicates the need for diagnostic alertness regarding concomitant pathology of the digestive tract in patients with psoriasis. Thus, the presence of comorbid gastroenterological pathology in patients with psoriasis indicates the importance of an interdisciplinary approach in the treatment of these patients.
GENETICS
15-20 101
Abstract
Today, among chronic immune-mediated systemic diseases, celiac disease, or gluten enteropathy, occupies one of the leading places in terms of the degree of study and development in gastroenterology and therapy. Despite these facts, celiac disease is of interest from the point of view of scientific research, as a direct correlation between the disease and the genetically determined component has been proven, research in the direction of which promises doctors to find preventive points of impact in combination with knowledge of immunobiology and genetics. The purpose of this literary review is to analyze current literary data on this topic. Materials and methods. Modern scientific articles published in the period from 2019 to 2024 were collected and analyzed. Information was searched in the databases Pubmed, Scopus, Elibrary, Global Health, CyberLeninka. Results. The presence of HLA risk alleles is a necessary, but not the only genetic factor for development. HLA typing has great predictive value, and the absence of HLA-DQ2/-DQ8 excludes the presence of celiac disease in those predisposed to it. Additional non-HLA genomic loci identified as associated with celiac disease probably explain the additional 32% of genetic heritability. Speaking in general terms, the presence of gluten in the diet is a necessary factor. At the same time, celiac disease does not develop without gluten, even if there is a genetic predisposition. Discussion. The PubMed biomedical knowledge search engine, at the beginning of August 2024, contains 10 111 publications on gluten enteropathy over the previous ten years, and 4804 in Elibrary. An analysis of the topics of articles in recent years suggests that the main focus is on the genetic and immunobiological aspects of the disease in the age aspect, aimed at a greater.
21-26 78
Abstract
The review is devoted to the study of the relationship of epigenetic factors with physiological and pathological processes in the development of the body of a newborn child. Modern aspects of the formation of microbiota and immunity, starting with fetal development, and the role of maternal lactobacilli in reproductive physiology are discussed. The effect of vaginal microbiota transfer on the development of the nervous system and the microbiome of newborns born by caesarean section. The characteristic of the formation of an immune response through Toll-like receptors is given. Breast milk as a biological system providing optimal physical and neuropsychiatric development, prevention of infectious and non-communicable diseases. The role of antibacterial therapy used in the antenatal period and in the first hours of life in the formation of late infections of newborns and disruption of their development is presented.
27-39 117
Abstract
Despite the fact that celiac disease has been described for a long time, the role of genetic factors and mechanisms of predisposition and/or resistance to celiac disease has not yet been fully determined. Factors such as the presence of HLA (heterodimers of DQ2 and DQ8) and gluten as a trigger are necessary but not sufficient for the development of celiac disease. This statement is supported by studies showing that celiac disease has been diagnosed in patients without the presence of any recognized risk factors. For a long time, celiac disease was considered rare in Asia, but several studies published over the past two decades have shown that CD is detected and as widespread in the Indian subcontinent and the Middle East as in Western countries. Among the Far Eastern countries, reports of CD are particularly rare in both Korea and Japan, but the incidence of the disease in these countries is steadily increasing. Of great interest is the analysis of the prevalence of HLA haplotypes in the Japanese population, as an example of a “non-classical” population, in which the frequencies may not correspond to those described for Western Europe. Thus, an increase in the number of genome-wide studies and sample sizes allows not only to map new regions of predisposition to the genetic map of celiac disease, but also new genetic variants of already known genes, as well as new genes, which in turn allows us to identify and detail already known mechanisms of development and progression of the disease on the way to its therapy.
CLINICAL CASE
40-44 178
Abstract
GM1- gangliosidosis is a rare hereditary disease from the group of lysosomal storage diseases, caused by a deficiency of the enzyme beta-galactosidase and leading to an abnormal accumulation of metabolic byproducts. GM1 - gangliosidosis is accompanied by a number of cytological disorders: multiple vacuoles in lymphocytes; weakly stained, unevenly distributed granules and cytoplasmic vacuolization in eosinophils. The article presents a clinical case of GM-1 - gangliosidosis type 1 in a 5-month-old child, which became possible to assume from the study of bone marrow (BM) and peripheral blood smears. Detection of vacuolated lymphocytes and abnormal eosinophils in the study of leukocyte formula may have important diagnostic value in patients with metabolic disorders.
45-48 81
Abstract
Malignant peripheral nerve sheath tumors are soft tissue sarcomas that develop from peripheral nerve sheath cells (T. Hirose, B.W. Scheithauer). These tumors are characterized by aggressive growth with an unfavorable outcome and may develop de novo or through malignant transformation of schwannomas, neurofibromas, or ganglioneuromas. In the article, the authors presented a case of malignant neoplasm of the peripheral nerve sheaths of the right shoulder.
REVIEW
E. V. Loshkova,
T. S. Lyulka,
I. V. Doroshenko,
A. V. Budkin,
Yu. S. Rafikova,
A. A. Terentieva,
G. N. Yankina,
V. A. Zhelev,
E. V. Mikhalev
49-58 102
Abstract
This review will consider risk factors for the development and pathophysiological mechanisms of lung injury as leading links in the formation of multifactorial etiology. Understanding the multifactorial etiology of BPD and the mechanisms of damage to lung tissue will make it possible to fundamentally substantiate the phenotypic heterogeneity of the disease for the development of personalized approaches to prevention and therapy.
59-66 65
Abstract
In the article the authors consider the problem of studying the quality of children’s life who have had infectious diseases of the respiratory (acute and recurrent) and gastrointestinal tracts (rotavirus infection and chronic hepatitis C), as well as HIV-infection. The relevance of such studies is due to the significant role of infectious pathology in the structure of childhood morbidity, especially acute infections of the upper respiratory tract of multiple and unspecified localization, as well as acute intestinal infections. The methodology of using specially designed questionnaires for children and their caregivers presented, allowing for a comprehensive assessment of various aspects of their quality of life.
ISSN 2949-4664 (Print)
