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International Festival in Travel and Tourism named after N.N. Miklouho-Maclay "Russian traveler" was held in Orel.

My lecture "Diagnosis: The Traveler", planned in three parts, one for each day of the festival, was received with interest by world-famous travelers. But, as they say, tell God about your plans and he will laugh - and it happened. The third part, in my opinion the most important, because of the time-bound regulation was not brought to the listeners. However, in this there was a plus, as this is the best reason to continue the relationship outside the festival and breaking the boundaries, regardless of the distance to complete the scheduled. Let's do it, my friends!

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...

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