Cystic fibrosis (CF) is an autosomal recessive disease caused by CFTR mutations. The presence of complex alleles can modify the clinical phenotype, but data on the impact of [L467F;F508del] are limited.

The aim of the study was to compare the clinical manifestations in two cohorts of Russian patients with cystic fibrosis (CF) under 18 years of age with [L467F;F508del]/class I or F508del/class I genotype of CFTR.

Methods. A single-center retrospective cohort study was conducted using data from the Russian National CF Patient Registry for 2023. The study included 100 patients under 18 years: 22 with the [L467F;F508del]/class I genotype (group 1) and 78 with F508del/class I (group 2). The study compared their age at enrollment, sex, age at diagnosis, proportion of diagnoses established through neonatal screening, history of meconium ileus, airway microbiological profile, lung function, nutritional status, frequency of complications, and ongoing therapy.

Results. The groups were comparable in terms of age, sex, age at diagnosis, and neonatal screening results. No statistically significant differences were observed in lung function or nutritional status. The frequency of liver cirrhosis was higher in the [L467F;F508del]/class I group (22.7% vs 5.1%; p = 0.038). This group also had a higher prevalence of Achromobacter spp. colonization (13.6% vs 2.6%; p = 0.044). No significant differences were found for other complications.

Conclusion. The presence of the [L467F;F508del] complex allele does not lead to statistically significant changes in lung function or nutritional status compared to F508del/class I, but may influence the microbiological profile and the frequency of liver involvement. These findings highlight the importance of molecular-genetic characterization of complex CFTR alleles for risk stratification and the planning of personalized therapy in children with cystic fibrosis.

The Receptor for Advanced Glycation end Products (RAGE) is involved in the pathogenesis of a wide range of diseases, including those unrelated to disorders of carbohydrate metabolism. The soluble Receptor for Advanced Glycation end Products (sRAGE) is often considered as a decoy for RAGE ligands, thus preventing signal transmission into the cell and the realization of biological effects in different cell types. Research data has been accumulated about the possible role of RAGE in the pathogenesis of asthma.

The aim was to look into sRAGE levels in patients with asthma compared with groups with a combination of asthma and type 2 diabetes mellitus (DM2), DM2 only, as well as the control group.

Methods. There were a group of patients with asthma (n = 20), a group with DM2 (n = 17), a group with a combination of asthma and DM2 (n = 14), and a control group (n = 21). The level of glycated hemoglobin was determined by the method of immunoinhibition. Enzyme immunoassay was used to assess the levels of sRAGE, IL-4, and IFN-γ in blood serum. Pulmonary function tests included spirometry with a bronchodilation test, body plethysmometry, assessment of the diffusion capacity of the lungs during respiratory retention, assessment of the acid-base state and blood gases. Statistical data processing was performed using SPSS software for Windows (version 26.0).

Results. Patients with allergic asthma had significantly lower (p < 0.001) sRAGE levels compared with non-allergic asthma, the control group, the group with a combination of asthma and DM2, as well as the group of patients with DM2. There was a significant negative correlation between sRAGE and IL-4 levels in patients with asthma. Statistically significant inverse correlations between the levels of sRAGE and IFN-γ were revealed in patients with asthma and patients with a combination of asthma and DM2. Significant correlations between the level of sRAGE and indicators of bronchopulmonary function have been demonstrated.

Conclusion. The results of this study showed lower levels of sRAGE in patients with allergic asthma compared with nonallergic asthma and control group, the presence of significant correlations between sRAGE and indicators of pulmonary function tests.

Cytokines reflect the inflammatory response and play an important role in classifying asthma phenotypes, facilitating the selection of targeted therapy, and predicting the risk of exacerbations. Changes in serum cytokine levels in adult patients with asthma depending on the level of its control remain poorly understood.

The aim of this study was to evaluate changes in the levels of interleukin (IL)-4, IL-5, IL-13, and tumor necrosis factor-α (TNF-α) in the serum depending on the degree of asthma control.

Methods. A retrospective study was conducted based on data obtained in the outpatient department of the Clinical Center of Allergology and Immunology of Vietnam for the treatment of asthma. Patients received treatment in accordance with the recommendations of the Global Initiative for Asthma (GINA, 2013) with a follow-up of 3 months. Serum levels of IL-4, IL-5, IL-13, and TNF-α were determined in patients (n = 66) with uncontrolled moderately severe to severe persistent asthma.

Results. Most patients (80.3%) achieved good asthma control after 2 – 3 months of treatment. Mean serum IL-5 and IL-13 levels after 3 months of therapy significantly decreased compared with baseline values (0.075 and 1.6 pg/ml vs 0.75 and 6.73 pg/ml, respectively; p < 0.001). In patients with wellcontrolled asthma, IL-5 and TNF-α levels after 3 months of treatment were significantly lower than in patients with uncontrolled asthma (0.12 ± 0.25 and 0.14 ± 0.22 pg/ml vs 16.85 ± 44.36 and 11.64 ± 14.76 pg/ml, respectively; p < 0.001). Serum IL-5 and TNF-α levels were associated with the degree of worsening of asthma control in adults.

Conclusion. The obtained results suggest the possibility of using changes in IL-5 and TNF-α levels as inflammatory markers for assessing and monitoring asthma control.

Systemic sclerosis-associated interstitial lung disease (SSc-ILD) often has progressive course and poor prognosis. Prognosis depends on the extent of pulmonary parenchyma damage, functional impairment, and ILD pattern.

The aim. To analyze clinical, functional, and hemodynamic parameters in patients with various radiological patterns of SSc-ILD compared to idiopathic pulmonary fibrosis (IPF).

Methods. This retrospective longitudinal study included a total of 176 patients (103 with SSc and 73 with IPF). The clinical data, functional indices, patterns on high-resolution computed tomography (HRCT) of the lungs and echocardiography were analyzed. Descriptive statistics (frequencies, median, interquartile range) and comparisons between groups (Mann – Whitney U-test for continuous variables and chi-square test for categorical variables) were performed. Factors associated with the presence of pulmonary fibrosis and emphysema were determined using regression and ROC analysis.

Results. The results demonstrate a high prevalence of pulmonary fibrosis in SSc-ILD patients – 53.4%. The typical interstitial pneumonia pattern was detected in 8.7% of these cases. Compared with IPF, patients with fibrotic SSc-ILD had longer disease duration, better GAP (Gender, Age, Physiology) scores, and fewer comorbidities. Patients with IPF were characterized by lower FVC and a greater prevalence of pulmonary hypertension, though there were no significant differences in DLCO. The main predictors of the presence of pulmonary fibrosis in patients with SSc-ILD were disease duration of more than 8 years, decreased FVC less than 80%pred., DLCO less than 45%pred., and increased pulmonary artery systolic pressure greater than 35 mmHg. Patients with fibrotic SSc-ILD had lower FVC and DL CO than those with non-fibrotic SSc-ILD and were more likely to develop pulmonary hypertension. Pulmonary emphysema was detected in 21.4% of patients with SSc-ILD, the main predictors of which were the presence of pulmonary fibrosis, a disease duration of more than 12 years, a decrease in DLCO of less than 35%pred., and an increase in FVC/DLCO of more than 1.9.

Conclusion. This study revealed differences in clinical and functional parameters between patients with fibrotic SSc-ILD and IPF, as well as between fibrotic and non-fibrotic SSc-ILD. Additionally, this study identified factors associated with the presence of pulmonary fibrosis and emphysema in SSc.

Prolonged air leak (PAL) is one of the most common and serious postoperative complications following video-assisted thoracoscopic surgery (VATS), significantly increasing the risk of secondary diseases and prolonging the recovery period for patients. Considering these consequences, it is crucial to identify key risk factors and develop tools for predicting PAL.

The aim. To determine risk factors for prolonged air leak (PAL) in the postoperative period after video-assisted thoracoscopic surgery (VATS) and to develop a predictive model.

Methods. A retrospective analysis of electronic medical records was performed for patients who underwent VATS at the Department of Thoracic Surgery, University Clinical Hospital No.4, Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), between September 2023 and September 2024. The study included demographic, anthropometric, clinical-anamnestic parameters, type of surgical intervention, and preoperative, intraoperative, and postoperative indicators. Univariate and multivariate logistic regression analyses were applied to identify independent predictors of PAL. Model quality was assessed using concordance indices (AUC-ROC), calibration curves, and decision curve analysis (DCA).

Results. The incidence of PAL was 23.6%. Multivariate analysis revealed statistically significant associations of PAL with chronic obstructive pulmonary disease (COPD) (OR = 9.023; 95% CI: 2.129 – 38.240) and the presence of pleural adhesions (OR = 3.404; 95% CI: 1.300 – 8.914). The calibration curve demonstrated good agreement between predicted and actual probabilities, and the area under the ROC curve for the diagnostic model, based on the identified factors, was 0.724 (95% CI: 0.617 – 0.831). A DCA curve was constructed to evaluate the clinical utility of the model. The results showed that the threshold probability ranged from 0.12 to 0.82, and a positive correlation was observed between threshold probability and net benefit of the model at threshold probabilities above 0.12.

Conclusion. COPD and pleural adhesions are risk factors for prolonged air leak after VATS. The developed predictive model demonstrated high accuracy and predictive capability. This model can predict the likelihood of prolonged air leak in patients after VATS. For highrisk patients, preventive measures such as intraoperative use of biological sealants, prolonged pleural drainage, and early respiratory rehabilitation are recommended.

The search for treatment methods for community-acquired pneumonia (CAP) is currently urgent. Therefore, the search for new therapeutic solutions, including the use of innovative drugs with pronounced anti-inflammatory, antioxidant, and regenerative properties that help prevent lung damage and minimize complications when used as part of combination therapy, is in high demand.

The aim of the study was to evaluate the efficacy and safety of tyrosyl-D-alanyl-glycyl-phenylalanyl-leucyl-arginine succinate (Ambervin® Pulmo (AP), Promomed Rus LLC, Russia) in hospitalized patients with CAP.

Methods. The study included 208 patients hospitalized with CAP and randomized into 2 groups. Along with standard therapy, patients in group 1 (n = 104) received tyrosyl-D-alanyl-glycyl-phenylalanyl-leucyl-arginine succinate by inhalation for 10 days at a dose of 11.6 mg once daily; group 2 (n = 104) received placebo by inhalation once daily. The prescribed therapy was assessed according to primary and secondary efficacy and safety endpoints.

Results. Clinical cure by Visit 5 (day 10) was observed in 57 (54.81%) of 104 patients receiving AP (Group 1) and in 35 (36.08%) of 97 patients in the placebo group. The mean time (± SD, per day) to achieving the criteria of clinical stability or discharge from the hospital was 2.54 ± 0.89 days in the AP group and 3.38 ± 1.64 days in the placebo group. Statistically significant advantages of AP over placebo in other secondary endpoints also indicate the high efficacy of the therapy. The analysis demonstrated a favorable safety profile of the study drug. No new data on the safety of AP that would affect the change in its safety profile were identified.

Conclusion. In patients receiving tyrosyl-D-alanylglycyl-phenylalanyl-leucyl-arginine succinate, compared to the placebo group, body temperature normalized as early as the third day of therapy, and the symptoms improved, including cough, sputum production, headache, weakness, night sweats, and chills. The use of AP was associated with reduced need for antibacterial medications and lower risk of developing complications of CAP. The results of the clinical trial demonstrated the clinical efficacy and pharmacoeconomic feasibility of hexapeptide succinate therapy.

Cystic fibrosis (CF) is a universal exocrine disorder that affects virtually all organs and systems containing exocrine glands. A genetic defect in the cystic fibrosis transmembrane conductance regulator gene leads to increased viscosity of exocrine gland secretions, primarily in the respiratory tract. CFTR modulators improve the synthesis, processing, and/or function of the defective CFTR protein, which is a chloride channel.

Objective. To evaluate the efficacy of the generic drug ivacaftor + tezacaftor + elexacaftor/ivacaftor (trade name Trilexa®), in a group of patients not previously receiving triple targeted therapy after 3 months of treatment in patients who have not previously received the first threecomponent CFTR modulator.

Methods. Data from the Russian CF Patient Registry, entered into the “Targeted Therapy” block, were analyzed for the period from January to August 2025 (main group) and for the period from January 2022 to August 2022 (comparison group). Two groups of patients were identified: Group 1 included 28 pediatric patients (12 boys/16 girls) with a confirmed diagnosis of cystic fibrosis, who started receiving triple targeted therapy generic drug ivacaftor + tezacaftor + elexacaftor/ivacaftor. Group 2, the comparison group, consisted of 34 pediatric patients (14 boys/20 girls) who started receiving the original triple targeted drug ivacaftor + tezacaftor + elexacaftor/ivacaftor (trade name Trikafta®).

Results. When assessing the nutritional status, a significant increase in BMI was shown in both groups of patients at the start and after 3 months; p < 0.001. Sweat test parameters (conductivity in mmol/L) differed significantly both at the start of therapy and after a month in both groups. The difference between the average sweat test values (Δ mmol/L) in both groups were comparable and did not differ from each other. The groups did not differ in the number of adverse events, which were mild and did not lead to drug discontinuation. Both drugs, the original and the generic, demonstrated safety and good tolerability. Group 1 value was 43 (35.5; 55), and Group 2 value was 42 (32; 50.3); p = 0.86. FEV1 and FVC indicators showed a tendency to increase with both drugs, but it was not significant in both groups.

Conclusion. The triple targeted therapy with the use of generic drug ivacaftor + tezacaftor + elexacaftor/ivacaftor is effective and safe in this sample of pediatric patients with cystic fibrosis. No significant differences were found between generic drug and the original drug in relation to the main efficacy criteria during 3 months of use. The frequency, spectrum, and severity of reported adverse events associated with the use of generic drug were comparable to those associated with the use of the original drug.

The phenotype of asthma and obesity is an urgent problem of modernmedicine. A number of studies have shown that obesity increases the risk of developing asthma by 1.4 – 2.6 times. It has been found that asthma in obese people is often associated with a larger number of symptoms, more pronounced impairment of pulmonary function, and a high need for inhaled drugs. Weight loss provides health benefits against many comorbidities such as obesity, but diet, exercise, and even pharmacologically induced weight loss are associated with poor long-term effectiveness. Bariatric surgery is a promising intervention for weight loss and long-term control of obesity-related comorbidities, including asthma.

The purpose of this work is to summarize data on the effect of bariatric surgery on the course of asthma.

Results. Available data support the effectiveness of bariatric methods in the treatment of asthma with morbid obesity: weight loss has a beneficial effect on asthma, its control and reduces the use of emergency medications, asthma exacerbations, hospitalizations, and also leads to improved quality of life and functional lung tests. The mechanisms that explain the improvement and sometimes remission of asthma after bariatric surgery are likely multifactorial. At the same time, it should be noted that the reported results of bariatric surgery in patients with asthma mostly come from observational studies, which have many limitations, including small numbers of patients, lack of clear endpoints, lack of standardization of diagnosis, classification and evaluation of asthma treatment results. Most studies do not specify the severity of asthma, and in those that do, most patients had mild or moderate asthma. It remains unclear whether the effect differs depending on the phenotype of the obese asthmatic patient. Also, at present, there is practically no data on differences in the effectiveness and safety of the method of surgical intervention used in patients with asthma.

Conclusion. Bariatric techniques should be considered a treatment option in morbidly obese patients with severe asthma after the previous failure of medical, dietary, physical, and psychotherapeutic treatments.

The skin, as an organ, is often involved in pathological processes occurring within various body systems. This can be observed in respiratory conditions associated with many pathological changes on the skin and its appendages. Damage to one system can lead to the involvement of another in the pathological process, sometimes creating a complex interdisciplinary problem. Especially vivid combined lesions of the respiratory organs and skin are observed as components of a number of hereditary syndromes, in which the skin and respiratory conditions are often the leading symptoms of the disease. In the case of hereditary pathology, lesions of the skin and respiratory organs occur due to a genetically determined disruption of the work and maturation of a certain physiological link. Genetically determined disorders of the vessels (Rendu – Osler – Weber syndrome, Klippel – Trenaunay syndrome), connective tissue (neurofibromatosis type I, Ehlers – Danlos syndrome, cutis laxa, tuberous sclerosis), melanocytic system (Hermansky – Pudlak syndrome) – all involve a number of organs and body systems in the pathological process, including the skin and respiratory organs. 

The aim of this work is to provide an overview of the available data on hereditary diseases and syndromes involving the skin and respiratory system.

Conclusion. Knowledge of clinical interactions within hereditary skin and lung syndromes, their modern diagnostics and rational treatment can help to increase patient survival and maintain their quality of life. This interdisciplinary issue at the intersection of pulmonology and dermatology requires further study in order to improve the methods of medical care for this group of patients.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired function of the ciliated epithelium. Ciliary dysfunction leads to chronic respiratory tract infections, bronchiectasis, sinusitis, and sometimes organ laterality defects (Kartagener syndrome). Diagnosis requires an analysis of clinical manifestations, measurement of nasal nitric oxide (nNO) levels, assessment of ciliary function and structure using high-speed video microscopy analysis (HSVA) and transmission electron microscopy (TEM), as well as genetic testing. Diagnosing PCD is complicated by cases with normal ciliary ultrastructure, difficulties in differentiating PCD from secondary ciliary dyskinesia, and the genetic heterogeneity of the disease. The HSVA method enables rapid evaluation of key ciliary function parameters, including ciliary beat frequency and ciliary beat pattern, making it one of the cornerstone tools in diagnosing PCD. 
The aim of this study was to review the HSVA method and software tools designed for the automated processing of HSVA results in PCD diagnostics.

Results. The review identified 13 main software tools. The findings show that these tools provide accuracy comparable to manual analysis, facilitate data processing, and reduce the influence of human error. However, manual analysis remains predominant due to the limited availability and complexity of automated solutions. To improve diagnostic quality, further development of universal and accessible software solutions is needed, along with the standardization of HSVA data analysis approaches.

Conclusion. HSVA is a pivotal diagnostic method for PCD, which evaluates the function of cilia. HSVA in combination with genetic testing and TEM has been demonstrated to facilitate the identification of the disease. The automation and standardization of HSVA, including the use of video image analysis software for ciliated epithelium, enhance the quality of diagnosis.

Cystic fibrosis (CF) is a progressive, life-limiting, autosomal recessive monogenic disease caused by mutations in the CFTR gene, leading to dysfunction of chloride channels in epithelial cells of almost all human exocrine systems, disrupting the function of sweat and salivary glands, the exocrine part of the pancreas, the hepatobiliary and reproductive systems, the intestines, and the respiratory tract. The development of CFTR modulators has revolutionized the treatment of CF by correcting CFTR protein dysfunction at the cellular level.

The aim. In our review, we tried to answer the question of whether the new three-component modulator vanzacaftor/tezacaftor/deutivacaftor (VTD) represents a significant step forward in the treatment of people with CF and whether all susceptible patients should switch from elexacaftor/tezaftor/ivacaftor (ETI) to VTD.

Methods. We analyzed all available scientific literature on the comparative efficacy of VTD and ETI. The search was conducted in the PubMed, Scopus, and Web of Science databases.

Results. It has been found that to date (October 2025) there is no proven clinical superiority of VTD over ETI. The drugs are comparable in terms of improving lung function, the number of exacerbations of the bronchopulmonary process, and the number of adverse reactions. Based on sweat test results, VTD demonstrates an advantage in restoring CFTR protein function, indicating the potential for early restoration of normal chloride channel function and prevention of the development or progression of cystic fibrosis, which still needs to be confirmed in real-world clinical practice. The once-daily dosing regimen of VTD could be considered a desirable feature of the drug, but its high cost does not provide ethical arguments in favor of a mass switch from ETI to VTD for the public health benefit. VTD can be prescribed to patients aged 6 years and older who have at least one of 31 additional pathogenic variants not listed in the prescribing information for ETI.

Conclusion. The advisability of discontinuing successful pathogenetic treatment with ETI and prescribing VTD requires further study in real clinical practice.

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unclear etiology that belongs to interstitial lung diseases and is characterized by a triad of symptoms: hemoptysis, iron deficiency anemia, and diffuse interstitial changes on computed tomography (CT) of the chest cavity. IPH can occur at any age, but the disease develops in childhood in 80% of cases, more often before 10 years of age. A significant proportion of pulmonary hemosiderosis cases in this age group remain undiagnosed.

The purpose of the study is to demonstrate a clinical case illustrating the features of differential diagnosis and therapy of IPH during the COVID-19 pandemic.

Conclusion. An 8-year-old girl was diagnosed with IPH based on fever, shortness of breath, weakness, and severe iron-deficient anemia. The chest CT scan revealed diffuse interstitial ground-glass opacity in lungs. The lung biopsy revealed hemosiderin deposits and hemosiderophages in the alveolar lumens. Treatment with systemic glucocorticoids (SGC) and azathioprine was effective. The patient was followed for 3 years.

Ganglioneuroma is a rare tumor originating from the neural crest, has a benign profile unlike other neuroblastic tumors (neuroblastoma, ganglioneuroblastoma). Ganglioneuromas can be found wherever the vegetative ganglia are located, mainly in the abdominal cavity, pelvis, adrenal glands, mediastinal organs, chest, and spine in children. Ganglioneuroma is usually diagnosed at the age of 7 and is more common in women than in men, with a ratio of about 3 : 2. The disease is asymptomatic or manifests itself with local compression effects; rarely there are nonspecific complaints of abdominal pain or hypertension associated with hypersecretion of adrenaline, norepinephrine, dopamine.

The aim of the study was to describe a clinical case of ganglioneuroma of the right hemithorax with local intradural spread at the level of TH10-11 in a 6-year-old child. The aspects of manifestation, diagnosis, differential diagnosis, complications, and treatment of ganglioneuromas are discussed.

Conclusion. Chest ganglioneuroma has a favorable prognosis after complete resection, even with infiltration of the spinal canal. Resection may be difficult in the case of massive dimensions and involvement of the vascular membrane. Therefore, the benefits and risks of complete resection should be carefully evaluated. Thus, a feature of the presented clinical case of ganglioneuroma of the right hemithorax with local intradural spread at the level of TH10-11 in a 6-year-old child was its long-term asymptomatic course. Despite the fact that the diagnosis was confirmed histologically, preoperative imaging helped localize and characterize the mass and select the appropriate treatment options.

Alpha-1-antitrypsin (А1АТ) deficiency is a genetically determined disease caused by a mutation in the SERPINA1 (serpin peptidase inhibitor, clade A) gene responsible for А1АТ synthesis. The clinical manifestations are bronchial asthma with fixed obstruction, panacinar emphysema or bronchiectasis, and liver damage. There are several types of SERPINA1 gene alleles: normal PiMM, deficient (with insufficient А1АТ secretion from the liver into the blood due to polymerization) PiSS and PiZZ, null (with complete absence of A1AT in the blood) PiNulNul, alleles with normal amount but impaired function of А1АТ, such as Pittsburgh.

The aim of our work was to demonstrate the course of А1АТ deficiency in a patient at the age of 40. The peculiarity of the course of the disease in our patient is also the absence of liver damage, and such damage is usually a frequent manifestation of α 1-antitrypsin deficiency in the case of a mutation with the Pi*ZZ allele. Causative therapy with an α1-proteinase inhibitor was initiated and the patient’s clinical symptoms stabilized.

Conclusion. It is important to inform physicians of various specialties about А1АТ deficiency in order to accelerate the initiation of necessary causative therapy, which helps improve the patient’s condition and prevent the development of severe complications.

Sarcoidosis is a systemic granulomatous disease with an unclear etiology. Various organs and systems may be involved in the granulomatous inflammatory process in sarcoidosis, but the lungs and lymph nodes of the mediastinum are the most common targets. Sarcoidosis and monoclonal gammopathy of undetermined significance (MGUS) is a rare combination, with limited data about it in the scientific literature. Only 10 cases of such combinations have been recorded. The possible link between malignant neoplasms and sarcoidosis has been the subject of discussion for several decades. The data obtained in the conducted studies are contradictory. To date, there is no convincing evidence confirming the relationship of sarcoidosis with malignant tumors.

The aim of the work is to present a rare clinical case of long-term follow-up of a patient with generalized sarcoidosis and MGUS, who developed malignant epithelioid cell mesothelioma of the peritoneum 11 years after the diagnosis of sarcoidosis.

Conclusion. The given case illustrates the variety of clinical manifestations of sarcoidosis, emphasizes the importance of a multidisciplinary approach in the diagnosis and treatment of rare forms of the course of this disease, and also focuses on the need for regular monitoring of the patient’s condition, cancer screening, and timely morphological verification.