Clinical features of pediatric Danon disease and the importance of early diagnosis.

Successful therapy in a cohort with early onset Danon disease (DD) highlights the potential importance of earlier disease recognition. We present experience from the largest National Pediatric Center in Russia for cardiomyopathy patients. This report focuses on identification of early clinical features of DD in the pediatric population by detailed pedigree analysis and review of medical records.

[Familial left ventricular noncompaction: phenotypes and clinical course. Results of the multicenter registry].

Aim: To analyze and demonstrate various phenotypes in patients with familial left ventricular noncompaction (LVNC).

Materials And Methods: In 2013 was created a multicenter registry of LVNC patients. On its basis 30 families with a familial LVNC were selected.

[THE ROLE OF AUTOANTIBODIES TO THE EXTRACELLULAR REGIONS OF IONOTROPIC RECEPTORS IN ETIOLOGY AND PATHOGENESIS OF AUTOIMMUNE DISEASES].

In the last years it was shown that autoantibodies to the extracellular regions of the ionotropic receptors, such as glutamate AMPA- and NMDA-receptors, GABAA-receptors, glycine and nicotinic acetylcholine receptors, induce a wide spectrum of autoimmune diseases, including limbic encephalitis, Rasmussen's encephalitis, systemic lupus erythematosus, myasthenia gravis, encephalomyelitis, and stiff-man syndrome. In the review the literature data concerning the autoimmune processes provoking autoantibodies formation to the ionotropic receptors, the epitopes participating in the induction of pathogenic autoantibodies, and the effects of these antibodies on the functions of nervous cells and their role in the development of autoimmune diseases were analyzed and systematized. The possible role of oncology diseases in the generation of autoantibodies to the ionotropic receptors was discussed.

The immunization with peptide 189-205, a derivative of serotonin receptor subtypes 1B, changes the sensetivity of adenylyl cyclase to hormones in the rat brain.

The aim of this work was to study the effect of multiple (during 12 months) immunization of rats with BSA-conjugated peptide 189-205 corresponding to the second extracellular loop of rat HT1BR on ACSS activity in the brain of immunized animals (group HT1BR) and its regulation by hormones.

[The influence of immunization of rats with BSA-conjugated peptide 269-280 of type 3 melanocortin receptor on the metabolic parameters and thyroid functions].

One of the approaches to study the role of the brain hormonal signaling systems in the regulation of biochemical and physiological processes is their shutdown using the antibodies generated to peptides corresponding to extracellular regions of receptors. The brain type 3 melanocortin receptors (M3R) play an important role in the central regulation of the metabolism and the endocrine system. However, the influence of prolonged inhibition of M3R on energy metabolism, insulin resistance, and thyroid gland (TG) function is practically not studied.

[Effect of eprosartan on left ventricular diastolic function and cerebral hemodynamics in patients with hypertension].

Eprosartan (600-1200 mg/day) was given for 4 weeks to 28 patients aged 32-62 years with stage II-III hypertension (WHO, 1999). Left ventricular diastolic function and cerebral blood flow were assessed by echocardiography and ultrasound dopplerography. Treatment with eprosartan was associated with improvements of impaired left ventricular diastolic function, structural and functional state of the heart, venous outflow from cerebral vessels, and restoration of unpaired autoregulation of cerebral blood flow.