An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation.

Rare diseases continue to present numerous challenges for the medical field worldwide. Understanding innovative mechanisms of service provision for patients with rare conditions through shared communication across different healthcare systems should be encouraged. This study presents the organization of medical care for people with rare diseases in Russia, while also exploring the epidemiology of both life-threatening and chronic, progressive, rare diseases. Further, the regulation of medical care provision is examined, including the preferential provision of medicines in different Russian regions and potential role of compulsory medical insurance. The principles guiding patient referrals to appropriate specialist centres for rare diseases are outlined, including considering the increased role that public-patient organizations have in developing healthcare systems. In reviewing the specialized resources available for patients with rare diseases, medical genetics services offering diagnostics and counselling are discussed. Additionally, population-level preventive care necessitates significant investment, principally in diagnostic technology and screening programs. As seen elsewhere, these initiatives involve forming reference centres and tertiary-level pediatric departments staffed by multidisciplinary specialists in rare diseases. Numerous challenges are highlighted relating to Russian healthcare systems, including the financing of expensive treatments and ensuring equitable access to medical care for those patients with rare diseases outside of State-subsidized programs. Recommendations are made on creating international registries for knowledge sharing, quality appraisal, newborn screening, diagnostic challenges, available treatments and rehabilitation services. Given the high cost of rare diseases, cost-effective interventions are advisable, particularly developing preventive programs and targeting the most common and severe mutations in patients planning pregnancies.

Impact of double filtration plasmapheresis on adhesion molecules levels in patients with stable coronary heart disease after coronary stenting.

OBJECTIVE AND METHODS: Endothelial dysfunction and inflammatory reaction at the site of damage plays a key role in the formation of neointimal hyperplasia, and in the progression of atherosclerosis. The initiating role in these processes is assigned to adhesion molecules. We studied the dynamics of the level of adhesion molecules soluble intercellular adhesion molecule-1 (sICAM-1), soluble vascular adhesion molecule-1 (sVCAM-1), soluble form of the molecule platelet adhesion and endothelial type-1 (sPECAM-1), sL-, sP-, sE-selectins during double filtration plasmapheresis (DFPP) with use of plasma fractionators (PF) Cascadeflo EC-50W and EC-40W (Asahi Kasei Medical Co., Japan) in patients with stable coronary heart disease and hyperlipidemia-(a) in the early post-implantation period after coronary stenting. RESULTS: DFPP reduces the level of plasma adhesion molecules. When using PF Cascadeflo EC-40W, a more pronounced decrease occurs. The rejection coefficient (RC) of adhesion molecules has been identified for these PF. These RCs reflect the immediate removal efficiency of adhesion molecules in the perfusion of plasma through PF. The removal effectiveness of adhesion molecules when using PF Cascadeflo EC-40W is higher than when using the PF Cascadeflo EC-50W (sICAM-1 - 2.5 times, sVCAM-1 - 2.2 times, sPECAM-1.6 times, sL-selectin - 5 times, sP-selectin - 2.8 times, sE - selectin - 3 times). CONCLUSION: Reducing adhesion molecule levels when using DFPP may play an important role in correcting of endothelial dysfunction in response to damage to the arterial wall in percutaneous coronary intervention (PCI) during the early post-implantation period after coronary stenting. DFPP is a promising approach to prevent in-stent restenosis (ISR).

Double Filtration Plasmapheresis in Treatment of Patients With Co-Infection of Hepatitis C and Human Immunodeficiency Virus.

One of the main causes of mortality of human immunodeficiency virus (HIV)-infected patients are complications of chronic hepatitis C virus (HCV). Combining drug therapy for HCV with double filtration plasmapheresis (DFPP) has significantly increased the effectiveness of treatment for these patients. However, there are no data on the use of this method for the treatment of patients co-infected with HIV and HCV. We demonstrated that positive clinical effect in the treatment of HCV patients by DFPP (previously demonstrated) is also achieved in the treatment of HIV infected patients, co-infected with HCV. The obtained efficiency of 62.5% is almost two times higher than the predicted treatment efficiency. We can conclude that the complex therapy of hepatitis C, including DFPP and medication by PEG-IFN + RBV is an effective and safe approach for the treatment of HCV in patients co-infected with HCV and HIV.

Russian pioneers of therapeutic hemapheresis and extracorporeal hemocorrection: 100-year anniversary of the world's first successful plasmapheresis.

On 15 February 2013 (2 February on the Julian Calendar) we celebrated the 100-year anniversary of the world's first successful experimental plasmapheresis. Scientific research projects in this field were carried out by the Department of Infectious Disease, Russian Imperial Medical Surgical Academy located in Saint-Petersburg. Doctor of Medical Sciences and Professor Vadim A. Yurevich was a Principal Investigator for this research, which in 1913 resulted in the discovery of a new way of treatment. The results were published in Russki Vratch (Russian Physician) Journal no. 18 (1914) - V.A. Yurevich and N.K. Rosenberg "For the Question Regarding Washing of Blood Outside of the Body and the Vitality of Red Blood Cells". There was no terminology offered for this medical innovation at that time. Plasma removal was performed not solely, but in combination with washing of blood cells returned to the patient. Nowadays this combination is still considered to be more effective than separate plasmapheresis. According to the published experimental protocols this new treatment was done on 15 February (2 February on the Julian Calendar or "old style"). One year later in 1914 a famous researcher, John Abel and coauthors, repeated a separate plasma removal treatment with retransfusion of the blood cells and suggested the term "plasmapheresis", which is now official. The article entitled "Plasma Removal With Return of Corpuscles (Plasmapheresis)", written by Abel was published 3 months later than the article by Professor Yurevich. In 1924, Dr Ivan P. Mikhailovskiy repeated experiments by Yurevich and Rosenberg in vivo on a dog model, confirmed the clinical efficiency and developed the methodology in his article "Washing of Blood In Vivo, the Methodology, Problems, and Importance for the Treatment of Toxic Conditions."