The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid progress of genetic technology, the identification of thousands of genes, and the resulting problems in society. This work provides an epidemiological analysis of the groups of the most common RHDs (autosomal dominant, autosomal recessive, and X-linked) and their point prevalence (PP) and describes the structure of RHD diversity by medical areas in 14 spatially remote populations of the European part of Russia. The total size of the examined population is about 4 million. A total of 554 clinical forms of RHDs in 10,265 patients were diagnosed. The CP for all RHDs per sample examined was 277.21/100,000 (1:361 people). It is worth noting that now is the time for characterizing the accumulated data on the point prevalence of RHDs, which will help to systematize our knowledge and allow us to develop a strategy of care for patients with RHDs. However, it is necessary to address the issues of changing current medical classifications and coding systems for nosological forms of RHDs, which have not kept pace with genetic advances.

Introduction: The medical profession is characterized by high requirements for implementation of activities assessed by the quality of services provided and patient satisfaction with medical care. In this regard, healthcare professionals suffer from high psychological and emotional stress. The proposed COPSOQ III questionnaire contributes to identification and prevention of psychosocial factors affecting health and well-being of medical workers. Objective: To study international requirements for the order of translation and cultural adaptation of the long version of the COPSOQ III questionnaire on assessment of psychosocial working conditions and health promotion in medical workers in the Russian health care system. Materials and methods: The questionnaire was compiled in English. It contains 160 questions and criteria for assessing psychosocial working conditions of medical workers. The original version was translated into Russian; after that, back translation and the repeated translation was done for validation purposes and cultural adaptation of the COPSOQ questionnaire in the national health system. According to the recommendations of the COPSOQ International Network for translation and cultural adaptation of the text, we followed stages of validation and coordination of the stage outcomes and the final report. Results: To assess the linguistic load of the Russian-language version of the long COPSOQ questionnaire, its testing was carried out with participation of ten general practitioners with the positive feedback received. Conclusion: The translated into Russian and adapted long version of the COPSOQ III questionnaire is valid and recommended for use in healthcare institutions of the Russian Federation.

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Introduction: In 2020–2022, Russia, like the rest of the world, faced the COVID-19 pandemic. The necessity to overcome its challenges has led to the expansion of powers of the regions. To improve public policy, it is expedient to evaluate the effectiveness of measures taken by the regions for public health preservation. Such an evaluation is proposed to be carried out using the public health index, which requires the development of appropriate methodological approaches. Objective: To develop and test a methodological approach to analyzing the effectiveness of public policy measures in terms of preserving public health. Materials and methods: This work continues a series of studies on establishing the public health index in the Russian Federation, which has already developed an approach to calculating this indicator in view of medical and social resources of the population. The approach is based on the recommendations of the World Health Organization standard "The Urban Health Index". The evaluation of the effectiveness of public policy measures involves the implementation of several stages for calculating the public health index and the classification of Russian regions depending on the degree of its change for 2019-2022. When performing calculations, correlation analysis is used to identify indicators that do not contradict each other. Through the normalization of indicators, as well as the calculation of average geometric values, the calculation of the public health index is carried out. The data for calculating the public health index are taken from the website of Rosstat and the Ministry of Health of Russia. Results: We established deterioration of public health indicators in most regions. We believe that this finding is primarily related to the COVID-19 pandemic as a large–scale challenge. In 2022, the public health index for the Russian Federation has decreased by 13.15 % compared with 2019. The largest decline has been observed in the Saratov Region (69.14 %). At the same time, an increase in the public health index has been registered in several regions, e.g. by 6 % over the study period in the Tyumen Region. Conclusion: The analysis of the components of the public health index makes it possible to ascertain the cause of public health worsening in the region and to assess its determinants. Having classified the regions, it is important to identify the determinants of public health that can be influenced through public policy instruments.

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