Chronic suppurative otitis media (CSOM), according to statistics, is one of the most common diseases in otorhinolaryngological practice, accounting for, on average, from 5.8 to 20.7% of all ENT pathology. The incidence of CSOM in the Republic of Uzbekistan is up to 6.5%. The pathological process in CSOM leads to the destruction of the bone structures of the middle ear and progressive hearing loss, and in some cases - to an increase in vestibular symptoms. Purpose of the study: vestibular disorders in chronic purulent otitis media using modern diagnostic methods. Materials and methods: In order to study the features of cochleovestibular disorders in CSOM, in the Department of Congenital and Acquired ENT Diseases at the Republican Specialized Scientific and Practical Medical Center of Pediatrics of the Ministry of Health of the Republic of Uzbekistan were examined 13 patients with CSOM with labial complications . All patients underwent a set of standard examinations: ENT examination, otoscopy with video recording, stato coordination tests, complex vestibulometry using modern computer video nystagmography, a set of audiometric tests, computed tomography of the temporal bones. Results: 38.4% of patients complained of dizziness, but when using the method of active survey complaints of dizziness were detected in 61.5% of cases. The analysis of the results of stato-coordination tests in 30.7% of patients revealed a deviation towards the affected ear, in 61.5% of cases - spontaneous nystagmus. Conclusions: the results allow us to conclude that the main complaint of patients with CSOM are of hearing loss (100%), discharge from the ear cavity (100%), complaints of vestibular manifestations were present in 30 to 55% of subjects. Detection of mixed deafness in 53.8% of patients during audiological examination indicates involvement in the process of the inner ear, hence all patients with CSOM, regardless of the duration and stage of the inflammatory process, should conduct a comprehensive vestibulometric examination to determine vestibular status, the degree of involvement of inner ear structures , prognosis, choice of treatment tactics and prevention of complications.

Lysosomal storage disorders (LSDs) are genetically and clinically heterogeneous conditions in which delayed recognition may permit irreversible multisystem injury. Flow-injection analysis tandem mass spectrometry (FIA-MS/MS) of dried blood spots provides a practical first-tier approach for multiplex lysosomal enzyme measurement. We performed a retrospective descriptive analysis of 14,989 valid unique pediatric DBS sample records from 13 geographic categories in Uzbekistan during 2025 after exclusion of technical/non-interpretable entries and duplicate plate identifiers. Of these, 386 samples were laboratory-positive (2.58%). Pompe disease was the most frequent category (141/386, 36.5%), followed by Krabbe disease (105/386, 27.2%), Gaucher disease (76/386, 19.7%), acid sphingomyelinase deficiency/Niemann-Pick disease type A/B (48/386, 12.4%), Fabry disease (10/386, 2.6%), and MPS I based on reduced IDUA activity (6/386, 1.6%). Regional sample denominators were available for all 13 geographic categories; the highest laboratory-positive proportion was observed in Surkhandarya (42/570; 7.37%), followed by Samarkand (87/2,604; 3.34%), Kashkadarya (70/2,152; 3.25%), and Khorezm (44/1,366; 3.22%). Median first-tier activities corresponded to 80.5% (ABG), 79.6% (ASM), 81.6% (GAA), 68.3% (GALC), 53.5% (GLA), and 15.5% (IDUA) of the respective decision limits. These results represent first-tier laboratory-positive signals in a selectively tested sample cohort rather than confirmed diagnoses or population incidence/prevalence. Systematic biochemical and molecular confirmation, patient-level linkage, and analytical batch review are required for definitive interpretation.

Introduction: Hearing loss is the most common sensory deficit in humans. Early diagnosis and intervention are important in the acquisition of hearing, speech, and linguistic skills, thereby contributing to the positive development of the child. Aims: To study the state of hearing in children living in Kazakhstan, to identify the proportion of mutations in the connexin-26 gene in the event of sensorineural deafness. Methods: prospective case-control analysis. In total, 454 participants were examined. Results: It has been identified that for the Kazakh population with regard to the polymorphism of gene frequency GJB2 (35delG, 235Cdel, 167delT) the most characteristic is allele spectrum frequencies of 167delT polymorphism. Conclusion: Thus, the population frequencies of the mutation were studied: 35delG (0.49±0.28), 235delC (0.66±0.33), 167delT (1.64±0.51) of the GJB2 gene in the Kazakh population, which makes a significant contribution to the study of the gene pool of Kazakhs.

Lysosomal storage disorders (LSDs) are genetically and clinically heterogeneous conditions in which delayed recognition may permit irreversible multisystem injury. Flow-injection analysis tandem mass spectrometry (FIA-MS/MS) of dried blood spots (DBS) provides a practical first-tier approach for multiplex lysosomal enzyme measurement. We performed a retrospective descriptive analysis of 14,989 valid unique pediatric DBS sample records from 13 geographic categories in Uzbekistan during 2025 after exclusion of technical/non-interpretable entries and duplicate plate identifiers. Of these, 386 samples were laboratory-positive (2.58%). Pompe disease was the most frequent category (141/386, 36.5%), followed by Krabbe disease (105/386, 27.2%), Gaucher disease (76/386, 19.7%), acid sphingomyelinase deficiency/Niemann-Pick disease type A/B (48/386, 12.4%), Fabry disease (10/386, 2.6%), and mucopolysaccharidosis type I (MPS I) based on reduced α-L-iduronidase (IDUA) activity (6/386, 1.6%). Regional sample denominators were available for all 13 geographic categories; the highest laboratory-positive proportion was observed in Surkhandarya (42/570; 7.37%), followed by Samarkand (87/2604; 3.34%), Kashkadarya (70/2152; 3.25%), and Khorezm (44/1366; 3.22%). Among the laboratory-positive samples, median first-tier activities corresponded to 80.5% for acid β-glucocerebrosidase (ABG), 79.6% for acid sphingomyelinase (ASM), 81.6% for acid α-glucosidase (GAA), 68.3% for galactocerebrosidase (GALC), 53.5% for α-galactosidase A (GLA), and 15.5% for IDUA relative to the respective decision limits. These results represent first-tier laboratory-positive signals in a selectively tested sample cohort rather than confirmed diagnoses or population incidence/prevalence. Systematic biochemical and molecular confirmation, patient-level linkage, and analytical batch review are required for definitive interpretation.