Terapevt Arkh
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The paper describes a case of giant cell arteritis whose leading clinical sign is long-term fever. It discusses current approaches to diagnosing giant cell arteritis.
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The paper gives an update on orphan (rare) hereditary and congenital diseases and their definitions and considers approaches to estimating their incidence and prevalence and the existing problems of their diagnosis and treatment in the world and our country. It lists the hereditary diseases and syndromes belonging to rare conditions. The paper presents (considers) the most relevant problems of rare diseases, which call for priority solution.
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Mesenteric inflammatory veno-occlusive disease (MIVOD) is a rare disease. Its basis is inflammation of the small and medium-sized mesenteric veins, which is generally complicated by thrombosis and intestinal ischemia. Arteries are not therewith involved in the process. ⋯ The lumen of arterial vessels of different diameters was free. No signs of systemic vasculitis and Crohn's disease were found. The postoperative period was uncomplicated.
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The orphan drug laws enacted firstly in the USA and then in some other countries have given rise to a specific market of drugs for rare diseases and to a drastic increase in the number of proposed drugs. At the same time, the prices for innovative drugs are frequently high, have resulted in debates about their cost effectiveness and the drugs for rare diseases being frequently difficult to be tested for their efficacy due to disease rarity. The article discusses the designs of clinical trials that could enhance their effectiveness, gives examples of standard-design trials, and notes that effectiveness evaluations can be obtained for most diseases, but with a small sample, they will not be very precise, which makes cost-effectiveness analysis difficult. In this connection, a number of mechanisms proposed worldwide to solve the existing situation are discussed.
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The paper discusses the problem of free drug provision as an integral part of medical care in the amount of state guarantees and lists legislative contradictions that cause the above violation. It clarifies the concept of the drug legal status, by using examples, and on this basis considers whether the patients needing therapy with orphan drugs may have access to drug provision. The author analyzes normative legal acts regulating the drug provision in patients with rare (orphan) diseases and on this basis formulates a number of proposals to enhance both the availability of drug therapy to these patients and the efficiency of medical care to them, including suggestions to be considered by the State Duma, the Government of the Russian Federation and its subjects.