This review examines the etiology, pathogenesis, and clinical features of deafness-infertility syndrome (DIS) caused by biallelic contiguous gene deletions involving STRC and CATSPER2, encoding the structural protein stereocilin, responsible for sound perception in the inner ear, and the cation channel CatSper, which is crucial for male fertility, respectively. A literature review demonstrates that DIS has only been confirmed in 6 patients worldwide to date, and its general population prevalence has not been established. However, this study revealed that in untargeted patient samples considering only one of the phenotypes of this syndrome (patients with hearing impairment or men with infertility), the prevalence rate of DIS chromosomes carrying biallelic CNVs in the STRC-CATSPER2 genes was 1,9% (232/12 388). Furthermore, recent studies have revealed a relatively high allelic frequency of DIS-chromosomes among population cohorts (0.55%). These results suggest that the global prevalence of DIS syndrome may be significantly higher. To clarify the true prevalence of this deafness and infertility syndrome, targeted studies are needed to identify large deletions of contiguous STRC and CATSPER2 genes in patient samples designed to account for both phenotypes — sensorineural hearing loss and decreased male fertility.
The paper discusses the diagnosis and treatment of mitochondrial DNA depletion syndrome (MDS), which is associated with a defect in the thymidine kinase 2 (TK2) gene. Despite the expansion of neonatal screening (up to 36 diseases, with plans to increase it to 62), the detection of MDS requires expensive whole-genome sequencing and is not yet available on a large scale. A case of a girl with TC-2-associated mitochondrial myopathy is described: the disease manifested itself at 9 months with weakness of the limbs and regression of motor skills, complicated by pneumonia, respiratory failure and cardiomyopathy. The diagnosis was confirmed genetically. The patient received therapy with deoxytimidine and deoxycytidine — the condition stabilized, new skills appeared. Long-term follow-up showed a decrease in the frequency of pneumonia, improvement of tests and a decrease in dependence on respiratory support. The importance of early genetic diagnosis and access to treatment is emphasized; research centers and telemedicine can help with this.
Modern healthcare is in a state of constant change. Numerous models for managing organizational change have been described to date. Practical experience is represented by a number of studies; the number of publications in the PubMed database in 2000 was less than 1,000, while in 2022 it reached 12,500. The most frequently used models were those by Lewin and Kotter, with numerous applications of the McKinsey 7S and ADKAR models also described. While international studies describe the application of a specific model in healthcare practice, domestic literature emphasizes general recommendations and methods for implementing change in healthcare organizations. Experience shows that the application of models in healthcare practice can help managers solve specific management problems to achieve the goals of a healthcare organization, which is a key factor in the successful functioning of an organization in the constantly changing conditions of the modern world.
The personnel sustainability of the healthcare and higher education systems constitutes a fundamental prerequisite for ensuring the quality of life of the population. Employees’ trust in working conditions, management, and career progression prospects serves as an integral indicator reflecting the degree of congruence between the organizational environment and employee expectations. The objective of this study is to develop a methodological approach for constructing an employee trust index and to perform a comparative analysis of the indices and structure of trust among physicians and higher education faculty members. The empirical framework comprised data from two sociological surveys conducted in 2023 and 2025 among physicians and faculty members. Selecting significant statements involved binary probit regression. Common trust factors for both groups were identified (remuneration, management support, objectivity of evaluation, and attractiveness for young specialists) along the specific factors for physicians and faculty members. The results obtained may be utilised for the development of targeted human resources policy measures in healthcare and education.
The review article presents the epidemiological, etiopathogenetic, clinical, and diagnostic aspects of monkeypox (MPOX), as well as possible measures for the prevention and treatment of this infectious disease. The causative agent, the monkeypox virus (MPXV), is transmitted in various ways: sexually, through household contact, and airborne droplets, which determines the clinical features of patients and a high mortality rate. Currently, a limited number of drugs are used that affect viruses of the Poxviridae family. Therefore, MPXV retains the status of a priority object for research in virology and epidemiology.
Innate immunity is the body's first line of defense against pathogens, and its genetic variability can significantly determine individual susceptibility to infections. The aim of this review is to investigate the role of single nucleotide polymorphisms responsible for innate immunity and their impact on the development and course of viral infections. This is especially relevant given the increasing incidence of infectious diseases and the need to develop new methods for their prevention and treatment. Furthermore, identifying genetic risk factors facilitates the development of personalized medicine and improved treatment outcomes. The study revealed a significant association between certain single nucleotide polymorphisms in the genes encoding toll-like receptors, cytokines (interleukins, interferons), and other components of innate immunity and predisposition and resistance to viral diseases. Some polymorphisms are associated with a higher risk of infection, more severe infections, reduced effectiveness of the immune response, and an increased risk of complications. The obtained results highlight the importance of studying this issue to understand individual differences in the body's response to infectious agents. The study highlights the need for further research into genetic predisposition to infections and the potential use of genetic markers to assess risk and optimize treatment strategies.
Currently, the incidence of dental defects due to tooth loss due to complications of caries and periodontal disease is quite high (paraphrase). This necessitates restoration of these defects, including the placement of dental implants. The literature provides insufficient information on the rehabilitation of patients using dental implants with palatal exposure (vestibular bone shield) for single defects with moderate lateral atrophy of the maxillary alveolar process, which prompted this research. Therefore, this paper presents the clinical results of the practical application of this method using implants with a less rough and anodized neck. The paper presents the results of a 5-year application of the developed method in 118 clinical cases of middle-aged and elderly patients with single partial secondary adentia in the form of included defects with moderate lateral atrophy of the maxillary alveolar process. The obtained data were processed using MS Office Excel. The combination of significant features contributes to the solution of the methodological problem: increasing the effectiveness and minimally invasiveness of rehabilitation for single, included defects with moderate lateral atrophy of the maxillary alveolar process using implants with milled and anodized necks when placed in the maxillary ridge with lateral atrophy and palatal exposure (vestibular bone shield). This eliminates the need for bone augmentation and allows for immediate loading with orthopedic structures. Thus, the use of dental implantation with palatal exposure (vestibular bone shield) and a milled and anodized neck contributes to the effectiveness of surgical interventions and orthopedic rehabilitation for moderate lateral atrophic changes in the maxillary alveolar process.
A comparative analysis of morbidity with temporary disability due to circulatory system diseases (CSD) in the Russian Federation in the pre-pandemic and early post-pandemic period was carried out. In 2023, there was a statistically significant increase in the incidence rate among workers in the age groups under 30. In order to reduce mortality from CVD, health authorities and employers are advised to pay attention to the circulatory system health of younger workers.
Dupuytren's disease is one of the most common hand disorders, leading to limitations of hand function. In recent years, there has been an increase in the number and a significant decrease in the age of patients. Long-term treatment outcomes for patients with this disease are often unsatisfactory. This is primarily due to a lack of information on current, effective treatment technologies. The aim of this study is to improve the effectiveness of treatment for patients with Dupuytren's disease by informing a wide range of practicing physicians about current views on its etiology, pathogenesis, and treatment technologies. A search and selection of publications in the RSCI, PubMed, Cochrane, and Scopus databases over the past 6 years revealed fragmentary knowledge of the disease's pathogenesis and the lack of a valid laboratory model, which hinders the development of pathogenetic drug treatment. The lack of a generally accepted study design for this problem and a system for evaluating the obtained results hinders the ability to objectively compare the results of various scientific studies. An analysis of the effectiveness of the applied technologies of conservative and surgical treatment is conducted. The emergence in recent years of the first pharmacological drugs for injection therapy with pathogenetic action, which have proven their clinical effectiveness, is a major step forward in the treatment of Dupuytren's disease.
In recent years, the concept of exposome, which includes a complex of external and internal factors, has been increasingly applied in complex biological and medical research, taking into account the cumulative effect of multifactorial effects on the body. The exposome concept is quite applicable in assessing the risk of developing psoriasis, ranging from lifestyle analysis, bad habits, the influence of man-made environmental factors, concomitant diseases, and ending with the genetic characteristics of patients. The purpose of this review is to analyze modern scientific data on the relationship of external and internal exposure factors with the pathogenesis of psoriasis. In the process of writing the article, 165 literary sources presented in databases were analyzed: PubMed, Medline, Scopus, Web of Science, RSCI, without language restrictions. Using the keywords "psoriasis", "genome concept", "single nucleotide polymorphisms of genes", "comorbid diseases", "environmental factors", 54 scientific papers were selected, which are discussed in detail in the presented review. An analysis of scientific publications has shown a significant role of single-nucleotide polymorphisms in the risk of psoriasis; the presence of common inflammatory and immune pathways involved in psoriasis and concomitant diseases; convincing evidence of the trigger role of external exposure factors (environmental pollution, bad habits - smoking, alcohol, stress and other lifestyle aspects) in the development of psoriasis.
The article examines the prevalence and causes of fatal industrial accidents due to occupational injuries and common diseases at enterprises in various sectors of the economy of the Republic of Bashkortostan and develops proposals to reduce the risk of their occurrence. The paper uses the method of retrospective analysis based on the materials of the investigation of fatal accidents that occurred at the workplace in the enterprises of the republic. The analysis showed that as a result of injuries, men in the age range of 30-49 years with short work experience most often died. Falls from heights and traffic accidents dominated among the causes of death. In the workplace, men aged 50-64 died more often from common diseases due to diseases of the circulatory system. The conducted research made it possible to identify the sectors of the economy and professions with the highest risk of fatal accidents, identify the main causes and circumstances that led to deaths and develop preventive measures to minimize them.
It is known that fetal communications are pathological conditions in which elements of intrauterine blood circulation remain after birth, leading to impaired oxygenation and hypoxemia of newborns. The review analyzes the literature sources, examines the causes, pathogenesis, risk factors and correction of fetal communications (functioning ductus arteriosus, open oval window). This pathology is a serious problem requiring immediate intervention in case of its hemodynamic significance. The outcome of treatment depends on early diagnosis and choosing the right management tactics.
Comparative studies were conducted on the ultrastructural state of the urothelial barrier of the bladder in a patient without a urogynaecological history and in four patients with recurrent cystitis, both before and after standard treatment, which included bladder instillations of a solution containing hyaluronic acid. Clinical, laboratory, and instrumental baseline investigations were supplemented with high-tech scanning electron microscopy of urothelial biopsies at magnifications of up to 7000 times. Visual differences were identified in the integrity of the urothelial barrier between the patient without a urogynaecological history and the patients with recurrent cystitis. Following the comprehensive therapy, there was a tendency towards a reduction in the width of intercellular spaces, along with an increase in the size of urothelial cells and a decrease in clinical and laboratory manifestations. One of the key factors contributing to the recurrence of cystitis in women is the insufficiency of the urothelial barrier.
Gastroesophageal reflux disease (GERD) is a chronic, multifactorial disorder characterized by dysfunction of the gastroesophageal junction and impaired esophageal clearance, leading to pathological reflux. Objective: To analyze the literature on the role of genetic factors in the development of GERD and its complications. It was found that the development and progression of GERD is associated with polymorphisms in key genes. These include genes encoding proinflammatory cytokines, signaling molecules, epidermal growth factor, and the FOXF1 and MHC markers. Damage to mtDNA plays a significant role, leading to activation of oxidative stress and cellular dysfunction. Genetic factors create an individual predisposition, determining the response of the esophageal mucosa to chronic reflux and the risk of malignant transformation. Genetic factors (genetic polymorphisms, mtDNA damage) can play a key role in the severity of clinical manifestations of GERD and the development of complicated forms of the disease.
The study showed that women with premature ovarian insufficiency and early menopause already at a young age develop a marked deterioration in bone quality, mainly by the type of osteopenia, and in some patients (11,9%) — osteoporosis. In women of reproductive age with estrogen deficiency, basic hormone therapy prevents further bone loss, but osteoanabolic therapy is required to actively restore bone tissue with a more pronounced decrease in mineral density.
The article describes a clinical case of functional mitral regurgitation in a 76-year-old patient. Upon hospitalization, an echocardiography was performed on an emergency basis, which visualized a violation of the coaptation of the mitral valve flaps, regurgitation of 3-4 degrees on the mitral valve. In this regard, a differential diagnosis of the cause of mitral regurgitation was performed: between the separation of the chords of the mitral valve and functional regurgitation. After angioplasty and stenting of the infarct-related artery, a decrease in the degree of mitral regurgitation was observed on the 7th day of hospitalization, which confirms the effectiveness of treatment and the functional nature of the developed condition. The presented clinical case clearly demonstrates the problems of differential diagnosis of ischemic mitral regurgitation. Increasing doctors' alertness and awareness of functional mitral regurgitation can help in choosing treatment tactics and determining indications for surgery.
Using a clinical case study, the effectiveness of metacarpophalangeal joint endoprosthetics with simultaneous reconstruction of the tendon-muscular apparatus in the surgical rehabilitation of the hand in late-stage rheumatoid arthritis is demonstrated. The work shows the immediate results of the operation and the long–term results after 6 and 12 months. A clinical example demonstrates the possibility of a wider application of this type of surgery for rheumatoid arthritis, which can reduce the intensity of pain, increase joint movement and achieve a good cosmetic effect.
The aim of the study was to investigate the relationship between the serum level of C-terminal telopeptides of type I collagen and clinical and laboratory features of rheumatoid arthritis in elderly female patients. We observed 87 patients with a reliable diagnosis of RA. The average age of the patients was 67.4±6.9 (61.7-73.4) years. The duration of RA ranged from 0.2 to 33 years (9 [4-16]). The average level of β-Cross Laps in patients with RA was 0.684 [0.40-0.78] ng/ml, an increase in the upper limit of the norm was observed in 28 (32.2%) patients. No significant relationship was found between the level of β-Cross Laps and age, as well as height, weight and BMI of the patients. A relationship was found between the concentration of β-Cross Laps and disease activity (K-W χ2=3.318, p=0.042), radiographic stage (K-W χ2=2.960, p=0.036), functional class (K-W χ2=3.639, p=0.030) and CRP level (ρ=3.1907; p= 0.037).
A steady increase in the incidence of multiple primary malignant tumors (MPMTs) has been observed in recent years. We report a case of a 67-year-old male patient diagnosed with synchronous multiple primary tumors in the rectum and stomach. The patient was initially hospitalized with a diagnosis of rectal cancer (RC); however, comprehensive diagnostic workup revealed gastric cancer as a second primary malignancy. The histological type of both tumors was adenocarcinoma. Based on the oncological medical consultation, neoadjuvant chemotherapy mFOLFOX6 was administered, which resulted in partial regression of the RC and complete regression of the gastric tumor, confirmed morphologically. Given the good response and the patient’s refusal of surgical treatment for gastric cancer, only surgery for RC was performed. No adjuvant therapy was administered. No progression was observed over 32 months. This case highlights the importance of comprehensive diagnostics and an individualized approach to the treatment of MPMTs.
