Primary ciliary dyskinesia (PCD) (Online Mendelian Inheritance in Man - OMIM - #242650) is a rare hereditary disease, which is based on a defect in the ultrastructure of the cilia epithelium of the respiratory tract which leads to the motor function disorder. Data about health characteristics of patients with PCD in the Russian Federation are incomplete.The aim of the study was to investigate the clinical, laboratory, and instrumental characteristics of patients with PCD.Methods. The data of 90 patients (22 adults (24.4%) and 68 children (75.6%)) from several medical centers were studied. The following methods were used: medical history, spirometry, microbiological examination of the respiratory tract, video microscopic analysis of the functional activity of the nasal mucosa ciliated epithelium, transmission electron microscopy of the ciliated epithelium, and DNA testing.Results. The median age at diagnosis was 17.0 years for adults and 5.0 years for children. Kartagener syndrome was detected in 23 (27%) people, including 6 (26.0%) adults. Hearing loss was noted in 5 (26.3%) adult patients and 15 (26.8%) children. Light microscopy of the ciliated epithelium was performed in 14 (82.3%) children and 3 (17.7%) adults. In 12 patients, cilia motor activity was not registered at each of the magnifications (x 100, x 400, x 1,000). Transmission electron microscopy showed that absence ofinternal and external dynein handles (51%) and absence of internal dynein handles (17.9%) were the most common disorders. DNA testing was performed in 55 (61.2%) patients: 16 (29.1%) adults and 38 (70.9%) children. The most common genetic variants were found in the DNAH5 and HYDIN genes. Lung function was reduced in both adults and children, but a significant decrease was noted in adult patients. P. aeruginosa predominated in the culture and accounted for 21.3% (intermittent detection in 13.2%, persistent detection in 9%). It has increased resistance to antibiotics.Conclusion. The results correlate with the European data. Infection caused by P. aeruginosa with the increased resistance to antibiotics was prevalent in patienths with PCD.

Relevance. Antibiotic resistance of microorganisms can contribute to the chronicity of the inflammatory process, lead to an increase in the cost of treating patients and make it difficult to eradicate the pathogen. Patients with cystic fibrosis constantly require medical supervision, regular visits to medical institutions, and therefore there is a high risk of infection with nosocomial antibiotic- resistant strains. In addition, the necessary intake of antibacterial drugs provides an advantage for the reproduction of resistant microorganisms.Aim. Comparison of the frequency of detection of antibiotic resistance determinants in oropharyngeal swabs in children with cystic fibrosis and conditionally healthy children using molecular biological methods.Materials and methods. A PCR study of oropharyngeal discharge from 100 children with cystic fibrosis and 100 children from the control (healthy comparison subject) group was performed. Genetic antibiotic resistance locus: metallo-b-lactamases of the VIM, IMP and NDM groups; carbapenemase genes of the KPC and OXA-48 groups; extended-spectrum beta-lactamase genes of the CTX-M group and the mecA gene were detected by polymerase chain reaction (PCR) with hybridization-fluorescence detection.Results and discussion. As a result of the analysis, a statistically significant increase in the frequency of detection of genetic determinants of antibiotic resistance in the microbiota of the oropharyngeal discharge in children with cystic fibrosis was found compared with healthy children (p<0.001). The chances of detecting antibiotic resistance loci in the discharge of the oropharynx among children with cystic fibrosis are 38.5 times higher than among healthy children (95% CI: 5.1-289.5). In 28% of children with cystic fibrosis, DNA of the genetic determinants of antibiotic resistance was detected in the microbiome of the discharge of the oropharynx. A high percentage of the presence of genetic determinants of antibiotic resistance may be the reason for the ineffectiveness of antibiotic therapy.Conclusion. Due to the high occurrence in the microbiome of the oropharyngeal discharge of patients with cystic fibrosis of genetic antibiotic resistance locus that are of particular clinical and/or epidemiological significance, and the high risk of the spread of antibiotic-resistant strains outside medical institutions, it is necessary to include this group of patients in regular epidemiological monitoring.

Chronic lung infection is the leading cause of death in patients with cystic fibrosis. The article highlights the data of a microbiological examination of children and adolescents with cystic fibrosis living in the Moscow region and the results of determining the antibiotic susceptibility of the main isolated pathogens. The purpose of the study was to study the spectrum of the microflora of the respiratory tract of children and adolescents with cystic fibrosis with the determination of the antibiotic sensitivity of the isolated strains of S. aureus and P. aeruginosa. Material and methods. A study was made of the discharge of the upper and lower respiratory tract in 127 (66.6%) pediatric patients with cystic fibrosis under the age of 18 years using the bacteriological method of research. Results and discussion. In children and adolescents with cystic fibrosis, S. аureus was isolated from the biological material of the upper and lower respiratory tract in 70.1% of cases, in 46.5% in monoculture and in 24% in association with other microorganisms. P. aeruginosa isolated in 23.6%, in monoculture 8.0%. In most cases, P. aeruginosa was associated with S. аureus. MRSA has been identified in 6.4% of children and adolescents with cystic fibrosis. The studied strains of S. aureus were 33% sensitive to benzylpenicillin, 25% to chloramphenicol and were resistant (75%) to ciprofloxacin. 56% of S. aureus strains remained sensitive to erythromycin. P. aeruginosa strains were resistant to ticarcillin/clavulanate), fluoroquinolones, third-generation cephalosporins, imipenem, and aztreonam. Conclusion. P. aeruginosa retains sensitivity to meropenem and aminoglycosides, and S. aureus to tigecycline, teicoplanin, vancomycin, linezolid, fosfomycin, and fusidic acid. Monitoring the antibiotic susceptibility of microorganisms isolated from patients with cystic fibrosis allows you to optimize the tactics of antimicrobial therapy, taking into account the revision of the criteria of the European Committee for the determination of sensitivity to antimicrobial drugs (EUCAST).

Частота выделения и чувствительность изолятов Staphylococcus aureus и Pseudomonas aeruginosa из нижних дыхательных путей к антимикробным препаратам у

Introduction. Antibiotic resistance in gram-negative bacteria causing urinary tract infections (UTIs) poses a serious threat to healthcare and requires regular monitoring of local resistance trends. Objective. To assess the dynamics of antibiotic resistance of dominant gram-negative flora of the urogenital tract in the adult population of the Central Federal District and Moscow in 2017–2022.Materials and methods. A retrospective analysis of 34,532 urine samples from patients over 18 years of age with bacteriuria ≥105 CFU/ml was conducted. Microorganism identification was performed using MALDI-TOF MS, and sensitivity testing was performed using the disk diffusion method according to EUCAST standards. The dynamics of resistance to amikacin, gentamicin, tobramycin, ampicillin, levofloxacin, ciprofloxacin, cefepime, ceftazidime, and meropenem were studied. Results. In the period from 2017 to 2022, there was a statistically significant increase in the proportion of Escherichia coli and Klebsiella pneumoniae isolates resistant to cephalosporins, fluoroquinolones, and carbapenems. The detection rate of cephalosporin-resistant Proteus mirabilis isolates increased 3-fold in 2022 compared to 2017 (p<0.0001) ). The increasing resistance of urinary tract infections to cephalosporins, fluoroquinolones, and carbapenems poses a critical threat to empirical therapy.Conclusion. The growing resistance of dominant uropathogens to cephalosporins, fluoroquinolones, and carbapenems poses a critical threat to empirical UTI therapy and requires increased monitoring of the rational use of antimicrobials and increased epidemiological control.

Escherichia coli (E. coli) remains one of the most common pathogens of urinary tract infections (UTIs) in inpatient and outpatient settings, causing both uncomplicated cystitis and life-threatening pyelonephritis and urosepsis. In the structure of nosocomial infections in urological departments, E. coli occupies a leading place, determining the epidemiological importance of controlling antimicrobial resistance in the group of catheter-associated, complicated UTIs. The aim is to study the genetic and phenotypic characteristics of Escherichia coli isolated from patients of the urological department of a multidisciplinary clinic in Moscow. The analysis included 16 E. coli strains obtained from urine samples from patients hospitalized in the urology department (Moscow, April–September 2025). The identification of microorganisms was performed by mass spectrometry (MALDI-TOF MS). The phenotypic sensitivity was determined by the MIC method according to the EUCAST standards (2025). Genetic profiling was performed by the method of genome-wide sequencing (WGS) on the Illumina NextSeq2000 platform followed by bioinformatic analysis (ResFinder 4.5.0). The dominance of the international high-risk clone ST131 (35.3%) was revealed. Phenotypic analysis showed a critical level of resistance to cephalosporins (up to 62%) and fluoroquinolones (56%), while maintaining high sensitivity to nitrofurantoin and aminoglycosides (94%). Genetic analysis confirmed the widespread occurrence of extended-spectrum beta-lactamase genes (blaCTX-M-15 was detected in 31.3% of cases). A unique finding was the discovery of the blaDHA-1 gene in the ST131 strain, which indicates the formation of resistance to carbapenems. The results obtained demonstrate the genetic and phenotypic diversity of E. coli isolated from patients with urological pathology, with a predominance of ST131 clones and a high burden of associated resistance. The detection of phenotypic resistance in the absence of target genes highlights the limitations of existing databases and the need for an integrated approach to diagnosis; infection therapy requires individual selection, taking into account the risk of hidden resistance mechanisms.