Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts—296, Russians—51, mixed and other ethnicities—46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant chromosomes in patients) and an extremely high (10.20%) carrier frequency in the control group may indicate a possible selective advantage for the c.-23+1G>A carriers living in subarctic climate.
The article presents the algorithm for calculating the integral index of problems in the evaluation of indicators of population health and identifying risk areas. The integral indices for Novokuznetsk municipal district were calculated. The index can be used by specialists of various levels and regions in assessing the level of health, environmental and socio-economic indicators for appropriate decision-making.
Introduction. Measures implemented in the form of a project to change the activities of medical instituions are recognized as successful if, on the basis of intensive diagnostic and treatment methods, the maximum possible amount of medical care is provided in compliance with licensing requirements. The purpose of the study was, taking into account the trends in the attitude of the population towards the activities of private medical institutions, to conduct not only an analysis of the activities carried out by the authorities and management to improve the model of the state medical institution, but also to identify possible problems that, against the background of optimizing the health system, can impede the successful implementation of appropriate management decisions. Materials and methods. The material for the comparative analysis was the normative legal acts of state authorities and management bodies, as well as the results of measures taken in the Kemerovo region to optimize the regional health care system and the information obtained by questionnaire of patients of a private medical institution. The analysis database was created in the IBM SPSS Statistics 22 license statistical package. Statistical comparison of ordinal and qualitative traits in independent groups was carried out using the chi-square test (χ2) and the Z-test. Differences are statistically significant at the difference level p < 0.05. Results. Patients who took part in the survey as respondents gave a higher rating to a private medical institution on the following indicators: management of work, quality of prescribed treatment, staff attitude to patients, waiting time for admission, sanitary condition of the institution, satisfaction with the quality of services. Differences are statistically significant. Limitations. As part of the study of the results of the implementation of a new model of a medical institution providing primary health care in the context of optimizing the healthcare system, an analysis of regulatory documents on the problem under consideration and a survey of two hundred nineteen residents of Novokuznetsk who sought medical help at the clinic of Grand Medica LLC were carried out. Conclusions. The conclusions contain not only an assessment of the declared level of the priority project being implemented, but also possible management decisions, the implementation of which will contribute to a positive change in the health system.
The article considers scientifically substantiated sociological approach to development of socially oriented policy related to medical insurance and health care. Specifically, actual condition and problems of medical insurance is captured. The new system of medical social co-financing based on application of social economical methods of motivation is proposed with purpose of ensuring observance of healthy life-style by population and minimization of preventable losses. The shortcomings of actual system of mandatory medical insurance are enumerated and means to rectify them are proposed. At that, main attention is paid to searching for social mechanisms which combined with administrative measures can significantly increase quality of medical services and simplify character of relationships occurred apropos of this. The main components of the system of medical social co-financing and ensured positive possibilities achieved are emphasized.
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