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Innovative Medicine of Kuban

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Vol 11, No 2 (2026)
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ORIGINAL ARTICLES

7-14 357
Abstract

Objective: To substantiate the surgical strategy developed by our team for multistage surgical treatment of advanced and complicated pulmonary tuberculosis.

Materials and methods: The study included 62 patients who underwent surgery between 1987 and 2025 for advanced pulmonary tuberculosis complicated by empyema with bronchopleural fistula. This diagnosis was present in 57 (92%) patients. In 3 (4.8%) patients, the indication for surgery was chronic suppurative lung disease, and in 2 (3.2%) patients it was lung cancer complicated by secondary abscess formation and empyema with a bronchopleural fistula.

Results: No intraoperative complications were observed at the stage of bronchopleural occlusion. Among significant postoperative complications, bronchial fistula recanalisation occurred in 1 (1.6%) patient and was successfully managed by prolonged sanation through a thoracostomy. The most frequent complication during pleuropneumonectomy was opening of cavitary lesions or the empyema cavity during pneumolysis, observed in 15 (24.5%) patients. No 30-day or 90-day mortality was recorded. Long-term outcomes were assessed in 59 (98%) patients. One-year mortality was 4 (6.4%) cases.

Conclusion: The recommended surgical strategy and technique for the treatment of bilateral complicated pulmonary tuberculosis, including transsternal occlusion of the main bronchus and either single-stage or staged resections of the remaining lung combined with collapse surgery, enabled durable cure in more than 82% of patients who otherwise had an extremely poor prognosis without surgical intervention.

15-23 305
Abstract

Background: Residual cardiovascular risk remains a significant issue in patients with coronary artery disease, and its stratification using autofluorescence-based assessment of advanced glycation end products represents a promising area for further research. Objective: To evaluate the impact of morphofunctional factors in patients with coronary artery disease that contribute to the development of very high residual cardiovascular risk, as assessed by skin autofluorescence.

Materials and methods: The study included a sample of 123 men diagnosed with coronary artery disease, divided into two cohort groups according to their residual cardiovascular risk level (very high and low), as determined by autofluorescence analysis of advanced glycation end products. All patients underwent laboratory tests, including lipid profile assessment and measurement of lipoprotein (a) concentration. Patients received combined lipid-lowering therapy. Statistical analysis was performed using StatTech version 4.11.2.

Results: Patients were divided into the main group with very high residual risk (n=62) and a control group with low risk (n=61). Analysis of baseline characteristics showed a significant elevation in several cardiovascular disease markers in the high residual risk group, including low-density lipoprotein cholesterol (3.47±1.09 mmol/l), HbA1c (6.67±1.53%), advanced glycation end product autofluorescence index (3.60 [3.05; 4.60]), and lipoprotein (a) (0.67±0.23 g/L).

The efficacy of lipid-lowering therapy was also analyzed separately for each group. Target levels were achieved in 75.8% (n=47) of patients in the main group and 91.8% (n=56) of the control group with dual therapy. With triple therapy including alirocumab, target levels were reached in only 24.2% (n=15) of the main group and 8.2% (n=6) of the control group.

The risk of developing very high residual cardiovascular risk increased 3.875-fold with elevated HbA1c, 8.157-fold in the presence of stage I chronic heart failure, and 33.952-fold with elevated lipoprotein (a) level.

Conclusion: The data indicate statistically significant factors associated with the development of very high residual cardiovascular risk in patients with coronary artery disease. These factors include elevated lipoprotein (a) and HBA1C levels, chronic heart failure, overweight and obesity, poorly controlled arterial hypertension and diabetes mellitus, and failure to achieve target lipid profile parameters. These findings underscore the need for a comprehensive approach to managing residual risk in this patient population.

24-31 306
Abstract

Objective: To evaluate the role of computed tomography in determining the degree of calcification and the severity of aortic valve stenosis.

Material and methods: In total, 118 patients with an indication for transcatheter aortic valve implantation, in accordance with clinical guidelines, were enrolled. All patients provided written informed consent to participate in the study. They were divided into 4 groups, depending on complete (concordant group) or partial (non-concordant group) agreement of aortic stenosis severity parameters based on echocardiography data. All patients underwent preoperative non-contrast cardiac CT.

Results: A positive correlation was found between the calcium score and peak transvalvular flow velocity as well as the mean systolic pressure gradient across the aortic valve: increasing calcium score was associated with higher peak velocity and mean gradient (r = 0.3465 and r = 0.3242; p = 0.0003 and p = 0.0001, respectively). It was also demonstrated that an increase in the calcium score was associated with a reduction in the effective orifice area of the aortic valve and the indexed aortic valve area (r = −0.2446 and r = −0.2679; p = 0.0076 and p = 0.0034, respectively). Statistically significant differences in calcium score were observed between groups with severe aortic stenosis and those with low-gradient stenosis (p = 0.0535), as well as moderate aortic stenosis (p = 0.0231). Discussion: The aortic valve calcium score values differ substantially from widely accepted threshold values. The identification of optimal threshold levels for grading the severity of aortic valve calcification remains a pressing issue.

Conclusion: Computed tomography enables accurate assessment of aortic valve stenosis severity, including cases of low-gradient stenosis or indexed aortic valve area values that do not correspond to severe disease.

32-37 302
Abstract

Background: Breast cancer is a malignant tumor arising from the ductal or lobular epithelium. The Matrix Metalloproteinase-9 (MMP-9) rs3918242 polymorphism has been reported as a genetic factor influencing cancer cell proliferation and tumor progression. Therefore, this study aims to investigate the association between the MMP-9 rs3918242 (C-1562T) gene polymorphism and the clinicopathology of luminal subtype breast cancer.

Methods: This study is a descriptive-analytic research with a cross-sectional design. The polymerase chain reaction (PCR) method was used to detect the MMP-9 rs3918242 (C-1562T) gene polymorphism in patients’ blood samples. Data were analyzed using SPSS version 26.0.

Results: The mean age of the participants, age at diagnosis, and age at menarche were 55.67±10.64, 53.29±10.28, and 13.48±1.60 years, respectively. Most participants had fewer than 2 childbirths (54.8%), and the majority were postmenopausal (64.5%). Regarding tumor characteristics, most cases were early-stage breast cancer (19 patients, 61.3%), while histological grading showed a predominance of high-grade tumors (23 patients, 74.2%). Bivariate analysis revealed a significant association between the MMP-9 rs3918242 (C-1562T) gene polymorphism and the clinicopathological features of luminal subtype breast cancer, including stage and metastasis.

Conclusion: A significant association was identified between the MMP-9 rs3918242 gene polymorphism and the clinicopathological characteristics of patients with luminal subtype breast cancer.

38-45 348
Abstract

Background: Inflammatory diseases of the urinary system remain a significant clinical challenge in urology. Current diagnostic methods are limited in their ability to provide qualitatively and quantitatively assessment of morphological and functional changes at the molecular and ultrastructural levels. The development of comprehensive digital tools is necessary to improve the diagnosis and monitoring of inflammatory processes.

Objective: To develop a digital analytical platform for retrospective assessment of the probable 3D-visual and 3D-ultrastructural state of the urinary system organs based on whole-body PET/CT data in patients with inflammatory diseases of the kidneys and urinary bladder.

Materials and methods: This pilot study included 8 patients divided into two groups: those with inflammatory kidney diseases and those with inflammatory diseases of the urinary bladder. Data from PET/CT scans acquired using 18F-FDG and 11C-choline tracers were utilized, along with 3D anatomical reconstruction and 3D ultrastructural analysis employing scanning electron microscopy. The results were correlated with clinical and morphological parameters.

Results: An association was identified between the standardized uptake value (SUVmax) of radiopharmaceuticals and 3D anatomical and 3D ultrastructural changes in the kidneys and urinary bladder wall, reflecting bacterial inflammation activity. Clinical navigation schemes were developed, enabling physicians without specialized training to assess the probable condition of urinary system organs using digital PET/CT parameters.

Conclusion: The developed digital analytical platform enables the integration of functional PET/CT imaging with 3D ultrastructural analysis, enhancing diagnosis and personalization of treatment for inflammatory diseases of the urinary system.

46-55 338
Abstract

Objective: To analyze the efficacy and appropriateness of using blood and its components in the treatment of anemia in patients with burn disease.

Materials and methods: In the Department of Combustiology at the Samarkand Branch of the Republican Research Centre of Emergency Medicine, from 2020 to 2025, the treatment outcomes of 920 patients with severe burn injuries were analyzed. The patients were divided into two groups.

The main group included 570 (61.9%) patients with severe and extremely severe burns. Treatment of burn-related anemia was carried out with consideration of its etiopathogenesis. It included individualized infusion-transfusion therapy, minimization of wound blood loss, as well as plasma transfusions, blood transfusion, and administration of 5%, 10%, and 20% albumin solutions according to clinical and laboratory indicators.

The control group consisted of 350 (38.04%) patients with severe and extremely severe burns. They received infusion-transfusion therapy according to the standard protocol. The patients’ age ranged from 6 months to 76 years.

Results: Timely treatment of burn-related anemia, as a severe complication was based on the clinical course of the disease and laboratory blood parameters. An individualized approach to transfusion therapy included: early administration of plasma transfusions, blood transfusion, or albumin transfusions; use of hemostatic sponges during burn wound management; minimization of blood loss during surgical interventions; timely administration of recombinant erythropoietin in combination with iron preparations; and early use of antihypoxants and antioxidants to prevent erythrocyte hemolysis.

The implementation of this comprehensive approach contributed to a reduction in the incidence of complications associated with burn-related anemia. In the main group, complications were observed in 188 of 570 patients (32.98%). In contrast, in the control group, early and late complications were observed in all 350 patients (100%).

An individualized approach to blood transfusion not only reduced the incidence of complications but also had a significant impact on lowering mortality rates.

Conclusion: Thus, in the treatment of anemia developing in burn disease, an individualized approach based on clinical and laboratory data significantly improved treatment outcomes. It included blood transfusion, plasma transfusion, albumin transfusion, as well as minimization of blood loss.

According to studies conducted over the past 5 years, in 570 patients of the main group, prevention of anemia was initiated from the first day of hospitalization. As a result, the incidence of severe complications (sepsis, multiple organ failure, myocarditis, disseminated intravascular coagulation syndrome, secondary wound deepening, and “burn-related exhaustion”) decreased from 100% to 32.98%. In addition, a significant reduction in mortality rates from burn disease was observed.

56-63 294
Abstract

Background: Effective healthcare management requires the introduction of new mechanisms for financial incentives. Domestic and international researchers offer various sets of performance indicators; however, a unified approach that allows comparison of different departments and entire hospital networks has not been developed.

Objective: To develop a scientifically based methodology for the integrated assessment of the performance efficiency and ranking of surgical departments, accounting for their differences and features.

Materials and methods: A set of research methods was employed, including organizational, analytical, statistical methods, interviewing, expert evaluation methods, and mathematical processing methods. To calculate the integrated indicator for assessing the quality and efficiency of surgical departments, performance indicators from hospital department reports for 2023–2024 were used. The object of the study was the largest multidisciplinary state budgetary healthcare institution in the Volga Federal District of Samara Regional Clinical Hospital named after V.D. Seredavina has a capacity of 1850 beds and staff of over 3500 employees. Key indicators of the integrated assessment of departments were divided into four groups: bed capacity utilization indicators, indicators of the treatment and diagnostic process, indicators of work in information systems, and financial performance indicators. Comparison of departments of different profiles, in terms of types of surgical interventions, case mix and severity of hospitalized patients, was carried out using 5 coefficients of complexity of patient treatment, expert assessment of the significance of indicators, optimization of indicators, ensuring the correctness of information aggregation and calculating weighted standardized criteria.

Results: The highest integrated assessment score and first place in the ranking was obtained by the Ophthalmology department (15.0), second place was the Otorhinolaryngology department (14.7), followed in descending order by the department of Urology (13.4), Maxillofacial Surgery (13.3), Orthopedics No. 2 (12.8), Traumatology (12.3), Orthopedics No. 1 (11.5), Neurosurgery (9.8), Thoracic Surgery (9.3), General Surgery (9.0), and Vascular Surgery (8.3).

Conclusion: The practical application of the proposed methodology will, through the mathematical modeling of the integrated indicator, enable a comprehensive assessment of the performance not only of an individual structural unit of healthcare organization, but also of any general hospital, as well as entities within the healthcare system.

EXPERIMENTAL RESEARCH

64-70 310
Abstract

Background: Microplastic particles (MPs) are ubiquitous detected in the environment and have been shown to accumulate in animal and human tissues, inducing oxidative stress, inflammation, and other toxic effects. The accuracy of assessing their organ-specific distribution remains limited: highly sensitive spectroscopic techniques are expensive and labor-intensive, while visual histology is subjective.

Objective: To develop and validate software for the automated quantitative assessment of microplastic particles in biological tissues using computer vision methods.

Materials and methods: Experimental validation was conducted on biological samples obtained from laboratory animals exposed to polystyrene microplastic particles measuring of 100, 500 and 1000 nm. Microphotographs were processed using an EGFP filter set. The results of the development and validation of software for the quantitative assessment of microplastic particles in the tissue of experimental animals are presented, implemented using the OpenCV, NumPy and Tkinter libraries in Python 3.10.

Results: The obtained quantitative data demonstrate that following a single systemic administration, polystyrene particles with diameters of 100, 500, and 1000 nm accumulate in the renal parenchyma, with deposition patterns dependent on their geometric parameters. The highest number of individual particles was observed in the 100 and 1000 nm groups, whereas the maximum density of conglomerates was found in the 500 nm fraction.

Conclusions: The developed software provides flexibility through adjustable image processing parameters, making it applicable to various types of biological samples. The obtained data confirm the effectiveness of the proposed approach, which minimizes the influence of the human factor and enables standardization of the analysis process.

CASE REPORTS

71-76 312
Abstract

Neurogenic tumors of the mediastinum represent a heterogeneous group of neoplasms arising from nervous tissue and account for up to 34% of all mediastinal tumors, predominantly localized in the posterior mediastinum. This category includes tumors of the peripheral nerve sheaths, the sympathetic nervous system, and paraganglia, which are crucial in determining prognosis and in selecting the optimal surgical strategy.

The most common schwannomas typically arise from intercostal nerves and are characterized by an encapsulated, lobulated structure. A rare variant is schwannoma of the recurrent laryngeal nerve, which presents a particular clinically challenge due to the risk of vocal dysfunction resulting from potential impairment of laryngeal innervation.

Diagnosis is based on computed tomography and magnetic resonance imaging; however, definitive diagnosis can only be established through histological examination of tissue samples. Surgical intervention remains the mainstay of treatment, with the use of a videoassisted thoracoscopic approach contributing to reduced tissue trauma.

Complete preservation of nerve function is often not feasible, thereby necessitating subsequent multidisciplinary rehabilitation.

This clinical case demonstrates the successful performance of surgical intervention and the subsequent implementation of a complex rehabilitation program, highlighting the importance of the multidisciplinary approach involving specialists from various fields to achieve optimal treatment outcomes.

77-80 280
Abstract

Buccal ureteroplasty is currently a highly promising surgical technique for the management of upper urinary tract obstruction.

A clinical case of successful replacement of the proximal ureter using a tubularized buccal graft in a patient with long-segment ureteral obliteration and intrarenal pelvis is presented for the first time. The patient underwent ureterocalicostomy using a buccal autograft. The length of the neoureter was 8 cm.

The postoperative course was uneventful, with complete restoration of urinary tract patency. The recurrence-free follow-up period was 6 months.

81-84 312
Abstract

Intravascular foreign bodies represent a rare but potentially life-threatening complication of medical procedures. This article describes the clinical case of a 15-year-old female patient whom, after an intravenous injection, needle fracture occurred with subsequent migration through the venous system into the lower lobe of the left lung, where it became localized within the lumen of the laterobasal artery of segment S9. The needle was removed using video-assisted thoracoscopic surgery. The postoperative period was uneventful.

85-92 469
Abstract

Objective: To evaluate the risk of recurrence of lower extremity varicose disease (LEVVD) after endovenous procedures based on identified risk factors and a developed scoring system.

Materials and methods: A retrospective analysis was performed of 1,647 medical records, including inpatient case histories and outpatient charts of patients with LEVVD. All patients underwent endovenous procedures on the main trunks of the superficial veins, including additional treatment of tributaries.

In patients with recurrence, clinical and demographic data, results of instrumental and laboratory investigations, pharmacotherapy, and characteristics of surgical intervention were analyzed in detail. Based on the identified factors, a scoring system for assessing the risk of recurrence of LEVVD after endovenous interventions was developed. The validity of this scale was tested in the entire cohort of patients included in the retrospective analysis. Data processing was performed using SPSS version 25 and Microsoft Excel.

Results: The following risk factors for recurrence of lower extremity varicose disease (LEVVD) after endovenous surgery were identified: age over 65 years; body mass index (BMI) greater than 34 kg/m²; history of type 2 diabetes mellitus (with glycated hemoglobin level above 8%); chronic heart failure of functional class II or higher; persistent incompetent perforating veins of the thigh and lower leg; diameter of functioning tributaries: greater than 3 mm in the thigh and greater than 5 mm in the lower leg; diameter of the functioning anterior tributary of the great saphenous vein (GSV) greater than 3 mm; diameter of the Giacomini vein greater than 3.5 mm; residual stump of the GSV at the saphenofemoral junction >1 cm; laser ablation parameters: power up to 7 W and energy density less than 80 J/cm²; and GSV trunk diameter greater than 8 mm.

According to the developed scoring system, the distribution of patients across risk groups was as follows: low risk 55.56% (n=915); moderate risk 40.62% (n=669); high risk 2.91% (n=48); and very high risk 0.91% (n=15).

At the same time, concordance between the predicted outcome based on the scale and the actual occurrence of recurrence (n=51) was observed in 80.95% of cases.

Conclusion: The scoring system for the quantitative assessment of recurrence of lower extremity varicose disease following endovenous interventions, developed on the basis of identified risk factors, demonstrated high prognostic value. The accuracy of the prediction is ensured by a comprehensive analysis of clinical and demographic data, results of instrumental and laboratory investigations, pharmacotherapy, and characteristics of the surgical intervention performed.

REVIEWS

93-100 400
Abstract

This article presents a review of the pathogenesis of cardiovascular-kidney-metabolic syndrome – a multifactorial condition in which cardiovascular, renal, and metabolic disorders mutually aggravate each other. Insulin resistance serves as the central link of the syndrome, leading to compensatory hyperinsulinemia. The latter activates the sympathetic nervous system and the renin-angiotensin-aldosterone system, promoting sodium retention, endothelial dysfunction, arterial hypertension, and atherosclerosis. In the kidneys, hyperglycemia triggers PKC and JAK-STAT/NF-κB signaling pathways as well as the accumulation of advanced glycation end products (AGEs), resulting in inflammation, fibrosis, and progression of diabetic nephropathy.

101-108 298
Abstract

Changes in the composition of the native microbiome may contribute to tumor development, as chronic infections, viral genetic integration, and microbial metabolites can potentially influence carcinogenesis, including in the prostate. Studies employing sequencing have revealed associations between the microbiome composition in the genitourinary system, gastrointestinal tract, and oral cavity and the risk of development and progression of prostate cancer.

This review focuses on the analysis and integration of current data on the role of the microbiota in the pathogenesis of prostate cancer. Further investigation in this area may enhance diagnostic capabilities and inform future treatment and prevention paradigms.

109-116 318
Abstract

Thyroid cancer remains one of the most relevant challenges in contemporary endocrine surgery due to its increasing incidence, the high prevalence of well-differentiated forms, and persistent controversies regarding the optimal treatment strategies. The majority of cases consist of papillary and follicular thyroid carcinomas, which are generally associated with a favorable prognosis; however, they retain the capacity for regional metastasis and recurrence, underscoring the importance of determining the appropriate extent of surgery and the need for lymphadenectomy. Modern diagnostics for well-differentiated thyroid cancer are based on a combination of clinical examination, ultrasound imaging, and fine-needle aspiration biopsy (FNAB). Ultrasound imaging is the primary modality for initial visualization and risk stratification, while FNAB remains the principal method for preoperative morphological assessment of thyroid nodules. However, even with the use of contemporary diagnostic algorithms, challenges in the interpretation of cytological findings persist, particularly in cases of follicular neoplasms, which often necessitate surgical verification. Surgical treatment remains the principal method for radical intervention in thyroid cancer. The choice between hemithyroidectomy and total thyroidectomy remains controversial and should be individualized, considering the morphological subtype of the tumor, its size, localization, presence of multifocal growth, extrathyroidal extension, regional metastases, patient age, and risk factors for recurrence.

Minimally invasive, video-assisted, and endoscopic techniques are of considerable clinical interest due to reduced surgical trauma and improved cosmetic outcomes. However, their application in malignant tumors requires strict patient selection and careful evaluation, as technical advantages must not compromise the oncological radicality of the procedure. Among minimally invasive approaches, cervical mini-incision techniques and video-assisted procedures appear to be the most justified, while remote accesses techniques are associated with greater technical complexity, a larger dissection area, and limited oncological versality. Thus, thyroid cancer surgery continues to evolve actively; however, the choice of surgical extent and specific approach should be determined primarily by oncological appropriateness and safety considerations. Prospects for further advancements in treatment are linked to more precise risk stratification, standardization of diagnostic approaches, and accumulation of data on the long-term effectiveness of modern minimally invasive technologies.

117-123 299
Abstract

Relevance: The importance of this study is determined by the absence of a unified pathogenetic concept and the abundance of conflicting data regarding the nature of bladder pain syndrome/interstitial cystitis, which significantly complicates the selection of therapy for this patient population.

Objective: To analyze and systematize current data on the key pathogenetic mechanisms underlying the development of bladder pain syndrome/interstitial cystitis in order to establish a comprehensive understanding of the disease, which forms the basis for the future development of targeted therapeutic strategies.

Materials and methods: A search and analysis of the scientific literature was performed using PubMed, the Cochrane Library, and Elibrary. More than 40 references were selected for the review.

Conclusion: Bladder pain syndrome/interstitial cystitis is a heterogeneous disorder with a complex, multifactorial pathogenesis, in which the following interrelated mechanisms play a key role: urothelial barrier damage, chronic (including neurogenic) inflammation, autoimmune responses, oxidative stress, detrusor hypoxia, and urinary microbiota dysbiosis. Numerous studies indicate that none of these mechanisms alone can fully explain the complex clinical presentation of the disease. This underscores the need to move away from monotherapy in favor of a comprehensive treatment approach simultaneously aimed at restoring urothelial barrier function, suppressing chronic inflammation, improving blood supply to the detrusor and submucosal layers of the urothelium, alleviating neurogenic pain, and correcting associated systemic disturbances. Future therapeutic prospects are associated with the development of precision methods targeting the specific pathogenetic mechanisms identified in individual patients.

124-131 292
Abstract

Background: Pelvic venous disorders (PVDs) represent a common yet underdiagnosed cause of chronic pelvic pain in women of reproductive age. Diagnostic challenges are due to nonspecific symptoms and the necessity to exclude alternative disorders. Given the limitations of conventional catheter-based venography, there is increasing interest in noninvasive imaging techniques, particularly computed tomography venography (CT venography), as a potentially effective diagnostic modality.

Objective: To analyze current data on the capabilities of CT venography in the diagnosis of PVDs, including its effectiveness, advantages, and limitations compared with other imaging modalities.

Materials and methods: A systematic literature search was conducted using the PubMed and eLibrary databases, primarily covering publications from the last 10 years. Clinical studies, reviews, and consensus guidelines addressing the role of CT venography in PVDs were included.

Results: Recent studies demonstrate high sensitivity of CT venography in detecting varicose changes, venous reflux, and obstructive forms of PVD. The method enables detailed visualization of vascular anatomy, assessment of degree of compression, and identification of collateral circulation. CT venography is particularly valuable in suspected May–Thurner syndrome, nutcracker syndrome, and ovarian vein thrombosis. CT venography offers several diagnostic advantages including high spatial resolution, objectivity, and the ability to evaluate both anatomical features and etiopathogenesis, which is important for surgical treatment planning and for assessing treatment efficacy. However, its use is limited by radiation exposure and the requirement for intravenous contrast enhancement, necessitating a balanced approach when examining women of reproductive age.

Conclusions: CT venography represents a promising diagnostic modality for PVDs. When appropriately applied, it complements – and in some cases may surpass – other imaging techniques, improving diagnostic accuracy, and facilitating the selection of optimal treatment strategies. Further standardization of the technique and accumulation of clinical data are required to ensure its reliable integration into diagnostic algorithms for PVD. 

132-139 303
Abstract

This literature review highlights the importance of assessing follistatin-like protein 1 levels for diagnostic and prognostic purposes. It is anticipated that future scientific and clinical studies will confirm the feasibility as an adjunct laboratory tool for diagnosis and prognosis evaluation in patients with cardiovascular diseases. Modulation of the concentration and expression of follistatin-like protein 1 may represent a promising therapeutic approach in the management of cardiovascular pathology.

140-146 320
Abstract

Down syndrome is attributed to congenital chromosome 21. Its pathogenesis is driven by a range of cytopathic effects associated with aneuploidy, an area that has been the focus of extensive recent investigation.

Objective: To analyze and present, in the form of a narrative review, the molecular mechanisms underlying the detrimental effects of chromosome 21 on the cell. The first of these is a primary imbalance in gene expression caused by increased dosage of chromosome 21 genes and the hyperfunction of the encoded enzymatic, transport, receptor, structural, and regulatory proteins. In addition, the presence of an extra chromosome leads to secondary global dysregulation of gene expression driven by a range of cytopathic mechanisms, resulting in the development of an aneuploidy-associated phenotype. Among these mechanisms are features of proteotoxicity (stoichiometric imbalance; overload of the systems responsible for protein synthesis, folding, post-translational modifications, and degradation; inhibition of ribosomal biogenesis; and activation of integrated cellular stress response programs), disruption of the spatial organization of genetic material, and genome instability (in particular chromosomal instability), which is associated with the accumulation of errors in a wide range of genes and activation of autoinflammatory processes.



ISSN 2541-9897 (Online)