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Goltsov Sergey
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Rosacea, we treat consciously

I am aware, colleagues, that here we "treat" metaphysically, and not a specific patient, so the text sins universality, but - as a guide - will help us to treat consciously, in accordance with the stages of inflammation and focusing on the observed phenomena. Read more...

Features of the clinical course of the family form of myofibrillar desmin-dependent myopathy
Features of the clinical course of the family form of myofibrillar desmin-dependent myopathy

Desmopathy is a rare hereditary disease associated with a mutation in the DES gene, which is a kind of myofibrillar myopathy. With this disease, it is possible to damage skeletal, cardiac, smooth muscles, as well as diaphragm. In clinical practice, desminopathy is a difficult diagnostic task. In this article, the clinical case of the family form of myofibrillar myopathy with the established mutation c.1021A> C (Thr341Pro) in the DES gene in the heterozygous state is considered. We present a family study in a cumulative calculus of over 100 years describing the dynamics of clinical manifestations, morphological, cardiological and electromyographic parameters.

Key words: desmin, DES, desminopathy, myofibrillar myopathy, mutation, cancer, electromyography, heart failure

А как часто вы посещаете маммолога?

Каждый год в России выявляется более чем 60 000 случаев злокачественных новообразований молочных желез у женщин. Далее...