[The rare diseases and orphan medications: Placement in health care of the Russian Federation].

The rare diseases are characterized both by relatively small prevalence in population and complexity of medical care support of patients. In this particular case, the legal regulation of medical care takes its particular placement in health care. The uniqueness of rare diseases requires development of special normative legal acts, definitions and treating approaches. One of such approaches are orphan drugs that also are unique, complicated in development and require special legislative regulation. The article presents corresponding legislative terminology in modern Russian health care, actual listings of rare diseases and orphan drugs. The directions to improve current terminology and normative legal regulation are proposed.

[The characteristics of restrictive listings of medications: the position of orphan medical preparations].

In the Russian Federation, the regulations on making out restrictive listings of medications were established as separate Government Order in 2014. Since this moment, the procedure of listing revision underwent various changes. The last revisions of this legal document contained several amendments regarding orphan medications. So, in last version the rating scale included separate component related to these medications. This indicates at unique characteristics of orphan medications that not allow to consider them along with other medications. The article covers main stages of drug list forming procedures of making out restrictive listings of medications in the light of how available methodology is adapted to be applied to orphan medications.

[The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020].

Lately, in case of a number of life-threatening and chronic progressive rare (orphan) diseases, resulting in decreasing of life expectancy of citizens or their disability, the powers to support patients with medications were transferred from regional to federal level. Among these diseases are hemolytic uremic syndrome, mucopolysaccharidose type I, II, VI, juvenile arthritis with systemic onset, unspecified aplastic anemia, hereditary deficiency of factors II (fibrinogen), VII (labile), X (Stuart-Prauer). The article considers data concerning hemolytic uremic syndrome, mucopolysaccharidosis type I, II, VI, juvenile arthritis with systemic onset - the diseases for which medication support provision was transferred to Federal level in the first place and for which at the time of preparation of the article there were sufficient data to analyze.

[The normative legal regulation of medical care support of rare (orphan) diseases in adult population of The Russian Federation].

The article considers the results of legal regulation analysis of medical care support including medication maintenance of adult patients suffering from rare diseases exemplified by life-threatened and chronic progressed rare (orphan) diseases resulting in life expectancy decrease and or disability ("List-24"). MATERIALS AND METHODS: Law database was analyzed in terms of current orders of medical care provision, standards of medical care, and clinical guidelines for rare diseases from "List-24" regarding to adult patients. RESULTS: It is concluded that there are no determined rules of medical care provision to adult population in case of rare diseases from "List-24". There are standards of medical care on 6 rare diseases (25% of total diseases amount) from this list for adult patients. However, based on content analysis data of approved standards it was established that there are only 3 from 11 standards (27.28%) for primary medical care support, 4 standards (33.34%) for medical care provision in planned condition, and only 1 standard (9.09%) had appropriate legal basis for its development (clinical guidelines availability). Nevertheless, there is negative prognosis for this the only standard due to legal necessity of all clinical guidelines revision till the end of 2021. CONCLUSION: Revision and creation of clinical guidelines and standards of medical care afterwards are needed for adult patients treatment with rare diseases from "List-24". The conclusion was made in terms of medical care standardization improvement for adult patients suffering from rare diseases from "List-24" based on its alignment with current legal regulation.

[The analysis of detection of rare diseases not included into listings of orphan diseases with preferential medication support].

The study was carried out to analyze detection of rare diseases that are not included into listings of rare (orphan) diseases to be treated at the expense of budget resources of the Russian Federation Russian Federation (hereinafter referred as rare diseases out of reimbursement). The analysis of detection of patients with rare diseases out of reimbursement in Russian Federation was carried out. The information was collected and summarized on the basis of open sources by the way of formalized personal request to the heads of patient and public organizations providing care of patients with rare diseases out of reimbursement. It is established that in the Russian Federation (85 subjects) reside patients with more than 250 forms and groups of rare diseases and only 28 out of them are included into the Federal registries of patients. Actually, there are more than 8 000 nosologic forms of rare diseases that are known thus far. The monitoring permitted to collect data concerning 30 particular nosological forms and groups of rare diseases out of reimbursement. Among them, 23 out of 30 analyzed pathologies have genetic nature. And only for 24 out of 30 diseases the registration of patients is applied. It is necessary to organize modern system of registration of patients within the framework of the Federal registry that includes full and actual data about patients, course of disease, therapeutic interventions that will permit to determine prevalence, disability, mortality, lethality, necessary medicinal maintenance and also to establish spectrum of diseases that are to be included into drug reimbursement programs.

[Technological Perspectives in Developing Carbon Nanotube-based DNA-modified Biosensors].

In this research we investigated the response of DNA-modified carbon nanotubes in the presence of thrombin and albumin. We analyzed aptamer-carbon nanotube interactions by Raman spectroscopy and by analyzing resistance after each step of biosensor assembly. We have shown that intensity of G-band decreases due to interconnection of aptamer and carbon nanotube and this also evaluates in decrease of sensor structure resistance. The response of the sensor exposed to thrombin and albumin differs essentially from each other. This fact serves as the prerequisite for the development of a highly selective biosensor. Results of this investigation can be used in creation of new generation of personal health monitoring systems.

[Vein extractor]. / Venékstractor.

Proposed veinextractor is used for dissection and extraction of varicose and thrombosed veins of the low limbs. It consists of thin pivot, the head of vohich looks like hemicylinder, lateral and buttend sides are made ovalshaped, conjugated between themselves and sharpened. The application of the veinextractor has enabled to decrease traumatisation and to improve cosmetic effect of the operation.

[Variants of pathological motility of the large intestine in the abdominal cavity and methods of surgical correction]. / Varianty patologicheskoi podvizhnosti tolstoi kishki v briushnoi polosti i sposoby ee operativnoi korrektsii.

The morphological analyses of variations of colon fixation in 200 cadavers and 73 patients have been done. 3 variants of the colon position and anomalies of its fixation were distinguished. The methods of surgical correction of the colon position are recommended. 27 patients were operated on with positive results.

[Structural changes of blood vessels and bile ducts in pathology]. / Izmeneniia arkhitektoniki krovenosnykh sosudov i zhelchnykh protokov pri patologicheskikh protsessakh.

Examination of 305 liver specimens of human cadavers of various age and study of the findings of intravital contrast examination of the duct and vascular system in 130 patients aged from 22 to 84 years revealed changes in the architectonics of the vessels and bile ducts in pathological processes. In healthy individuals the enlargement of the length and diameter of the vessels and ducts and increase in the depth of distribution of their intrahepatic branches from the surface of the liver ware regular in character and depended on the size of the liver and the age; they were marked by a straight linear course without sharp bends and dilatations. The length, diameter, the angles at the junction, and the direction of the course of the vessels and ducts changed sharply in inflammatory processes in the liver and bile ducts, focal lesions, and cirrhosis. Irregular enlargement of the diameter of the vessels and ducts and their marked tortousness were noted. The changes in the duct system were in direct dependence on the pressure in the biliary tract, the higher the pressure, the greater was the dilatation of the ducts at all levels.

[A clamp for suturing of duodenal stump]. / Zazhim dlia ushivaniia kul'ti dvenadtsatiperstnoi kishki.

An original clamp was used in suturing a duodenal stump after gastric resection in 77 patients. The complex relief of the blades of the clamp holds the duodenum reliably during application of the sutures and ensures their air-tightness. The trauma inflicted to the duodenum in this case is minimal. During resection of the stomach in 37 patients the author used the clamp in closure of the lesser curvature. Incompetence of the duodenal stump was not encountered.

[Changes in the architectonics of the bile ducts in inflammatory processes]. / Izmenenie arkhitektoniki zhelchnykh protokov pri vospalitel'nykh protsessakh.

A study of 156 preparations of the liver of adults, and as well examination of 62 patients has shown, that in inflammatory processes in the liver and bile ducts, the considerable changes in the length, diameter, angles of the confluence of the bile ducts occurred. With increase in the pronouncement of biliary hypertension, their diameter increases.