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Vol 28, No 4 (2024)

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Lectures

Varicella (chickenpox) has “matured” and become even more dangerous

Neverov V.A., Kirpichnikova G.I., Antonov V.M., Startseva G.Y., Klur M.V.

Abstract

This lecture focuses on varicella (chickenpox), one of the highly contagious diseases, the outbreaks of which can be effectively prevented through vaccination. It highlights modern aspects of the etiology, pathogenesis, epidemiology, clinical presentation, diagnosis, treatment, and prevention of varicella. Additionally, the lecture explores the clinical diversity of the disease’s forms and complications, including cases in newborns with perinatal infection. Compelling evidence characterizes varicella as a severe and “non-benign” infectious disease, which ranks among the leading causes of economic losses associated with infectious diseases in Russia.

The “maturation” of varicella observed in recent years has led to serious consequences, including more severe complications in adults compared to children, an increased economic burden, and a rising number of cases among pregnant women, resulting in higher rates of congenital and neonatal varicella. In light of increasing varicella incidence in Russia and several other countries, the data presented in this lecture are particularly valuable for practicing physicians, especially family doctors.

Russian Family Doctor. 2024;28(4):5-15
pages 5-15 views

Providing medical care without patient or legal representative’s consent, and patient refusal of medical intervention: regulatory framework and legal practice

Tsyganova O.A.

Abstract

This lecture focuses on the regulatory framework and legal practices regarding provision of medical care without the consent of the patient or their legal representative. It discusses the grounds for delivering medical care in the absence of consent and provides a procedural algorithm for healthcare professionals to follow in such situations, as well as in cases where a patient refuses medical intervention. The lecture also highlights the documentation requirements for instances of medical care provided without consent and cases of patient (or legal representative) refusal of medical intervention.

Russian Family Doctor. 2024;28(4):16-23
pages 16-23 views

Review

Modern approaches to assessing motor development in infants and young children in clinical practice

Andrushchenko N.V., Palchik A.B., Osipova M.V.

Abstract

Early detection of motor impairments poses a significant diagnostic challenge. This article examines methods that go beyond classical neurological examinations and are widely applied in both international and domestic practices for assessing motor development in infants and young children.

Diagnostic methods for evaluating motor development or predicting the risk of motor impairments can be categorized as follows: anamnestic methods (used to identify children at risk of motor skills disorders); milestone-based assessments (compare motor development to established norms); standardized observations (focus on the quality of movements and motor patterns; e.g., standardized neurological examinations adapted for infants and young children); screening tools (include standardized and semi-standardized instruments); developmental tests (assess motor and broader developmental domains).

Routine neurological examinations alone are insufficient for evidence-based assessments of motor development in high-risk infants or for evaluating intervention outcomes. While neurological scales are versatile, cultural factors can influence motor development stages. Although this influence is less significant than in other developmental domains, assessment tools must be adapted to national norms to maintain validity.

Assessment tools may either have a narrow focus (evaluating motor functions exclusively) or take a comprehensive approach (assessing motor functions alongside other developmental domains). The choice of a tool depends on the child’s age and the clinician’s objectives, such as identifying children at risk, predicting developmental outcomes, or evaluating the effectiveness of rehabilitation or early intervention programs. A critical limitation is the availability of tools and whether they have been adapted for domestic use.

This article outlines the age ranges, diagnostic parameters, and practical applications of 21 evidence-based diagnostic tools. It provides a classification of these tools and discusses their applications, particularly in multidisciplinary and multi-level diagnostic approaches.

Russian Family Doctor. 2024;28(4):24-38
pages 24-38 views

The influence of epigenetic regulation on development of multifactorial diseases

Vokhmyanina N.V., Golovanova N.E.

Abstract

Multifactorial diseases pose a growing challenge to global healthcare due to their rapidly increasing prevalence, high mortality rates, and significant contribution to disability among the working-age population. Intensive research aimed at improving early diagnosis, prevention, and treatment has underscored the critical role of epigenetic changes, which influence gene expression without altering the primary DNA sequence. This article provides an overview of the primary epigenetic mechanisms involved in gene expression regulation, including DNA methylation, post-translational histone modifications, and the role of non-coding microRNAs in gene silencing. Epigenetic factors serve as a bridge between the genome and environmental influences. Environmental risk factors—shaped by lifestyle, behavior, ecological exposures, and psycho-emotional stress—play a significant role in the phenotypic manifestations of diseases and overall human health. The reversibility of epigenetic mechanisms regulating gene expression can lead to both beneficial and adverse health outcomes. The continuous development of new technologies positions epigenetics as a promising field for functional research, with the potential to fundamentally transform therapeutic approaches to the treatment of multifactorial diseases.

Russian Family Doctor. 2024;28(4):39-49
pages 39-49 views

Early onset of cardiovascular disorders in children: risk factors and long-term consequences

Ryazanova T.A., Ustyuzhanina M.A., Kovtun O.P., Brodovskaya T.O.

Abstract

Cardiovascular diseases (CVD), including myocardial infarction and stroke, remain the leading cause of morbidity and mortality in industrialized nations. This review highlights studies demonstrating that adverse prenatal factors play a significant role in determining cardiovascular health and contribute to the early development of subclinical atherosclerosis in children and adolescents. Indirect evidence of early atherosclerosis in children can be obtained through non-invasive imaging of vascular changes, such as anatomical alterations (e.g., increased intima-media thickness), mechanical changes (e.g., increased arterial stiffness), and physiological changes (e.g., reduced flow-mediated dilation). Effective early identification of individuals, particularly children, at an increased risk of future cardiovascular diseases is critical for prevention. Existing algorithms for assessing CVD risk or stages primarily rely on “traditional” risk factors. However, these algorithms often fail to accurately detect atherosclerosis in young individuals and are unsuitable for pediatric use, emphasizing the need for alternative methods to classify risk in asymptomatic young patients. This article provides an overview of such methodologies.

Russian Family Doctor. 2024;28(4):50-61
pages 50-61 views

Original study article

Clinical and laboratory characteristics of patients with severe COVID-19 undergoing gene engineering therapy

Rogozhkina A.V., Pogromskaya M.N., Romanova E.S., Startseva G.Y., Filipovich O.M., Klur M.V., Antonov V.M.

Abstract

Background: One of the primary factors contributing to an increased risk of fatal outcomes in severe COVID-19 cases is the development of a cytokine storm, a hyperimmune response characterized by excessive cytokine release. Despite using biologic therapies, mortality rates in severe COVID-19 cases remain significantly high.

Aim: To analyze and evaluate the clinical and laboratory parameters of patients with severe COVID-19 who received biologic therapy.

Materials and methods: A cluster sampling method was employed, with clusters selected based on the severity of the primary disease and biologic therapy. The study included 65 patients, divided into two groups based on disease outcomes: Group 1 comprised 34 patients with favorable outcomes, while Group 2 included 31 patients with fatal outcomes.

Results: Significant differences were observed between the groups in terms of age (p = 0.01). Patients in Group 2 (with fatal outcomes) had a higher burden of co-morbidities, as measured by the Charlson Comorbidity Index (p = 0.00009) and the Cumulative Illness Rating Scale for Geriatrics (CIRS-G; p = 0.000003). Additionally, the groups differed significantly in the number of days from disease onset to the initiation of biologic therapy (p = 0.02). In Group 2, delayed initiation of biologic therapy was associated with persistently high concentrations of acute-phase proteins.

Conclusions: Key factors influencing the efficacy of biologic therapy for severe COVID-19 with cytokine storm include patient age, the presence and severity of co-morbidities, and the timing of hospitalization and initiation of biologic therapy.

Russian Family Doctor. 2024;28(4):62-71
pages 62-71 views

Estrogen levels and mortality in elderly and senile women

Turusheva A.V., Panchishina K.A.

Abstract

Background: High estrogen levels in young and middle-aged women are considered a primary factor associated with lower mortality and morbidity rates due to cardiovascular diseases compared to men. However, population studies investigating the influence of estradiol on mortality in postmenopausal women have yielded mixed results.

Aim: To evaluate the impact of estrogen levels on life expectancy in elderly and senile women.

Materials and methods: A CRYSTAL prospective cohort study was conducted using a random sample of women aged 65 years and older (n = 280). The study collected data through surveys, medical record analyses, and laboratory tests. Key parameters included chronic co-morbidities, comprehensive geriatric assessments, and laboratory measurements of estradiol, thyroid-stimulating hormone, glycated hemoglobin, total protein, albumin, C-reactive protein, vitamin D, creatinine, complete blood count, and lipid profiles over a six-year follow-up period.

Results: Analysis of the relationship between estradiol levels and six-year survival showed a positive association between high estradiol levels and increased all-cause mortality, with a hazard ratio of 1.005 (95% confidence interval 1.000–1.009). The average survival time over the six-year observation period for women with estradiol levels below 73 pmol/L was 62.9 ± 1.2 months, compared to 49.9 ± 3.0 months for women with estradiol levels of 73 pmol/L or higher. After adjusting for age, history of acute cerebrovascular events, obesity, elevated C-reactive protein, glycated hemoglobin, and reduced cognitive function, women with estradiol levels of 73 pmol/L or higher had a 1.6-fold higher risk of all-cause mortality compared to women with estradiol levels below 73 pmol/L.

Conclusions: An estradiol level of 73 pmol/L or higher is an independent risk factor for mortality in postmenopausal women.

Russian Family Doctor. 2024;28(4):72-79
pages 72-79 views

Associations between socio-economic, demographic, and anthropometric factors and physical frailty in outpatient patients aged 65 and older: data from the Russian EVKALIPT Study

Sharashkina N.V., Vorobyeva N.M., Izyumov A.D., Balaeva M.M., Sorokina A.V., Runikhina N.K., Kotovskaya Y.V., Tkacheva O.N.

Abstract

Background: Currently, the number of elderly and senile patients is steadily increasing. Physical frailty significantly worsens prognosis in this population, making the evaluation of its relationship with socio-economic, demographic, and anthropometric factors a pertinent area of study.

Aim: To examine the associations between socio-economic, demographic, and anthropometric factors and physical frailty in outpatient patients aged 65 and older.

Materials and methods: A sub-analysis of the EVKALIPT study included 2,553 outpatient patients aged 65 and older (mean age 76.9 years, 32.2% men). Participants were divided into three age subgroups: 65–74 years, 75–84 years, and 85 years and older. A two-stage comprehensive geriatric assessment was conducted: the first stage involved a questionnaire on socio-economic status, and the second stage involved an objective examination using the Short Physical Performance Battery (SPPB). Physical frailty was defined based on SPPB results as follows: 10–12 points indicated no frailty (“robust” patients), 8–9 points indicated pre-frailty (“pre-frail” patients), and ≤ 7 points indicated physical frailty.

Results: Total SPPB scores ranged from 0 to 12 (median 7, interquartile range 4–9), with the prevalence of physical frailty at 58%. Patients with physical frailty had poorer socio-economic status. Multivariate regression analysis identified eight independent factors associated with physical frailty: age (per year), female sex, absence of a partner, disability, educational level as an ordinal variable (1 to 6, where 1 is no education and 6 is a doctoral degree), past blood donation, continued employment, and material resources as an ordinal variable (1 to 3, where 1 is low and 3 is high).

Conclusions: In outpatient patients aged 65 and older, physical frailty is associated with socio-economic, demographic, and anthropometric factors. High levels of education, past blood donation, continued employment, and high material resources were found to have a protective effect against physical frailty.

Russian Family Doctor. 2024;28(4):80-90
pages 80-90 views