Terapevt Arkh
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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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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.
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The paper describes a unique case of a large abdominal urate mass with a peculiar inflammatory process with giant cells and smaller urate deposits in the lung and small bowel without articular changes and kidney injury in a patient with terminal heart failure.
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To study the rate and types of cardiac involvement, the patterns of cardiovascular events (CVE) and to determine the importance of risk factors for atherosclerosis and the role of noninvasive methods in the diagnosis of cardiovascular diseases in patients with systemic vasculitides (SV). ⋯ The cardiac manifestations of SV are associated with immune inflammation and concomitant hypertension and atherosclerosis. The combination of traditional RFs for atherosclerosis and SV in the same patient allows the latter to be assigned to a very high CVE risk group. Early heart damage diagnosis using non-invasive methods provides a way of optimizing the further management tactics in patients with SV.
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The paper describes a case of Fabry disease in a patient in whom kidney biopsy enabled the renal lesion be characterized in detail. Fabry nephropathy-associated kidney tissue changes, including renal lesion, have been verified using electron microscopy of renal tissue.