[CADASIL syndrome: differential diagnosis with multiple sclerosis]. / Sindrom CADASIL: differentsial'naia diagnostika s rasseiannym sklerozom.

Two cases of clinical and MRI manifestations of genetically verified CADASIL syndrome in female patients under 40 years of age are presented. The primary misinterpretation of clinical data and the neuroimaging results within multiple sclerosis indicates a lack of awareness of radiologists and neurologists about this disease. The article reviewed the current literature on the problems of diagnosis and treatment of CADASIL. The clinical and neuroimaging pattern of the syndrome, the approaches to genetic testing and the basic principles of patient management are considered in detail.

[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene]. / Novye allel'nye varianty nesindromal'noi umstvennoi otstalosti 20-go tipa, obuslovlennoi mutatsiiami v gene.

AIM: To determine clinical and genetic characteristics of patients with non-syndromic mental retardation (NMR), type 20 with autosomal dominant type of inheritance (OMIM: 613443). MATERIAL AND METHODS: Fourteen patients were studied including four patients with mutations in the MEF2C gene revealed by exome sequencing. Three of the four mutations in the gene were found for the first time. RESULTS: Based on a comparative analysis of the clinical manifestations of 4 observed patients and 9 patients with type 20 NMR described in the literature, the authors determined common clinical characteristics of this syndrome. In most cases with delayed psycho-speech development and convulsive syndrome, the patients were expected to have various variants of early epileptic encephalopathies, in which presence of convulsive paroxysms leads to intellectual deficit, while in the case of NMR, the delay in development can be noted long before the onset of seizures. CONCLUSION: Exome sequencing is the most effective method of NMR diagnosis.

Effect of adrenoblockers on slow (LF) waves in rabbit heart rate.

Propranolol and atenolol were used to examine the role of the adrenergic system in the genesis of slow HR variations (waves) in rabbits, the animals characterized by pronounced sympathetic influences. The control experiments were performed with physiological solution and long-term records in intact rabbits. The harmonic (spectrum) analysis was performed with fast Fourier transform. The adrenoblockers produced no decrease in the power of slow waves. The study did not found the sympathetic genesis of slow variations in rabbit HR.