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Significant expansion of telemedicine technologies was made possible by the adoption of the necessary legal regulation and initiation of the national program “Healthcare”. National research centers were assigned a mission to provide advisory and methodological support to the regional hospitals. The manuscript describes the experience of the National Research Center for Hematology in application of telemedicine technologies in order to improve the quality of specialized medical care. Progressive increase in the number of requests for telemedicine consultations was observed during the last 5 years, also due to the activities aimed at expansion of geographical coverage of telemedicine technologies and involvement of the regional doctors. In 2019 1380 requests were received from 80 regions of the Russian Federation. The largest number of requests came from the hospitals of the Central (28%) and Siberian (25%) Federal Districts. Distribution of consultations by aim, disease, regions of origin is presented in the manuscript. Telemedicine consultations significantly contribute to the implementation of precise diagnostics and monitoring of patients with blood disorders, shortening of the time of diagnosis, timely treatment initiation, help to organize correct patient referrals, ultimately reducing the risks of treatment failure, complications and lethal outcomes. Analysis of the data accumulated in the consulting National research center allows to assess the quality and effectiveness of medical care in the regional hospitals.

Gaucher disease (GD) is an autosomal recessive Lysosomal storage disease caused by a deficiency of the enzyme glucocerebrosidase that is involved in glycosphingolipid degradation. The involvement of the osteoarticular system is one of the main manifestations of the disease and occurs in 70-100% of patients. However, the rarity of GD, nonspecific and heterogeneous clinical manifestations, and radiation semiotics similar to that of a number of other diseases may make differential diagnosis difficult. Objective : to present the radiation semiotics of involvement of the osteoarticular system in GD type I. To determine the role of MRI in diagnosing and estimating the severity of osteoarticular involvement in patients with GD type I. Material and methods . The data of X-ray and magnetic resonance images of the femurs along with the hip and knee joints were retrospectively analyzed in 86 patients diagnosed with GD type I. Studies were performed prior to specific therapy. The specific involvement of bone marrow in the pathological process was evaluated. Changes in the bones and joints, paraarticular structures, and soft tissues were determined. Results. The patients with GD type I were shown to have a spectrum of osteoarticular changes. It was ascertained that bone involvement in GD might be reversible and irreversible. MRI is a sensitive technique for diagnosing reversible changes in the osseous system in GD. Conclusion. The radiation semiotics of osteoarticular involvement in patients with GD type I is quite typical, and at the same time extremely variable. MRI is the gold standard method for the current diagnosis of osseous involvement in GD.

Differential diagnosis of bone involvement in patients with Gaucher disease can be challenging. Other diseases with similar radiological signs should be ruled out. Here we present a clinical case of tuberculous sacroiliitis in the patient with type I Gaucher disease. Advanced radiological methods of examination are described. Our case report proves the necessity of an individual approach to the management of such cohort of patients. Keywords: Gaucher disease, tuberculosis of bones and joints, differential diagnosis, comprehensive treatment.