Since the term “thoracic outlet syndrome” (TOS) has been introduced, there have been disputes about the accuracy of the diagnosis, definition, diagnostic workup and treatment of this condition. Existing  clinical variants include involvement of blood vessels and nerve fibers. Neurogenic TOS, consisting of the brachial plexus compression, is the most common variant of TOS, which is also the most hardly proven  by physical findings, imaging or electrodiagnostic studies. A long history of searching the “gold standard” for TOS diagnosis has led to a  large number of publications. The current paper reviews the symptoms and diagnostic approaches to the neurogenic TOS.

Combined use of transcranial magnetic stimulation and electroencephalography (TMS-EEG) is a highly informative cutting edge technology which is relevant for fundamental, clinical and  translational research. Unique capabilities of TMS-EEG approach  allow to assess the functional state and connectivity of brain regions  thus opening new prospects for the evaluation of the TMS effects in  non-motor cortical areas. TMS-EEG responses have diagnostic and  prognostic potential for many neurological and mental illnesses.  Simultaneous co-registration of TMS with EEG remains a technically  sophisticated procedure and requires specialized equipment in  conjunction with application of complex data analysis techniques.  This review describes the details of TMS-EEG technique, principles of the experiment design, the shape and the reproducibility of TMS- evoked responses and applications of this promising approach both  in research and in clinics. 

Aim. To study the epidemiological features of myasthenia gravis in the Krasnoyarsk region.

Materials and methods. 314 cases of myasthenia gravis, registered by the Krasnoyarsk regional health information analytical center, 87 of these patients were under constant monitoring.

Results. Mean age of the patients was 45.4 (SD 4.5) years. The number of women in the observed group – 66 (75.86 %), which was 3 times more than men – 21 (24.14 %). The prevalence was 10.98 per 100.000 population, the primary incidence – 0.01 by 1000.

Conclusion. Clinical features of the disease in the region were established, the register of patients with myasthenia was formed. From September 2016 a department of the neuromuscular pathology on the basis of advice Regional Hospital was formed.

The objective was to evaluate standard neurophysiological characteristics of the external anal sphincter and pelvic floor muscles using electromyography interference pattern analysis.

Materials and methods. Electromyography was performed in 33 volunteers without complaints of bowel incontinence or bowel evacuation disorders: 20 (60.6 %) men (mean age 57.3 ± 9.4  years) and 13 (39.4 %) women (mean age 55.3 ± 12.8 years).  Intra-anal electrode registered cumulative values of contractile force  of sphincter ani externum: background and voluntary bioelectrical  activity (BEA). Integral values of mean and maximal BEA amplitude  for the rectal obturator muscles at rest, for voluntary contraction,  during straining, and with increased intra-abdominal pressure were calculated.

Results. Standard values of BEA of the rectal obturator muscles were obtained. These values can be used for qualitative and quantitative evaluation of pelvic floor muscles function and in  additional multicenter studies aimed at development of a unified  algorithm of rectal obturator and pelvic floor muscles evaluation.

Background. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a treatable disimmune neuropathy, which accurate diagnostics and treatment are essential to improve a long-lasting  prognosis and prevent invalidization. In atypical cases and  differential diagnosis extra investigations are needed, including neuroimaging.

Objective. Evaluating the diagnostic role of the cauda equina magnetic resonance imaging (MRI) in CIDP.

Materials and methods. 8 patients with CIDP according to European Federation of Neurological Societies and Peripheral Nerve Society criteria were originally included in the main cohort: 6  patients with definitive CIDP, 1 patient – with possible CIDP; in 1  patient later mixed crioglobulinemia, associated with hepatitis C was  later diagnosed. MRI with contrast enhancement of the cauda equina was performed in all primary included patients in the main cohort  and in 8 controls with metabolic polyneuropathy. In 12 months MRI was repeated in the main cohort patients.

Results. The enlargement of the nerve roots of the cauda equina and nodular hypertrophy was demonstrated in all CIDP patients, and in none of the control subjects. The extensiveness of qualitative  changes correlated with disease duration. All CIDP patients with root hypertrophy had gadolinium enhancement and its severity did not  correlate with disease activity. Contrast enhancement in roots of the  control group patients was explained by the medullary artery phenomenon.

Conclusion. MRI of the cauda equina with contrast improves the diagnostic of CIDP, but does not depict the activity of the disease. MRI in CIDP is a promissing technique, requiring further investigation and standardization.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of central and peripheric motor neurons, with genetic factors playing significant role in its  development. In this article, we discuss in detail the difficulties in the analysis of ALS related to incomplete penetrance of mutations,  extreme genetic heterogeneity of this disorder, the lack of clear  genotype-phenotype correlations, etc. Presented is our own  instructive observation in which a clinically unaffected relative of a  patient with the SOD1-associated form of ALS requested presymptomatic ALS genetic  testing and medical-genetic counseling. Key aspects of  recommendations about presymptomatic genetic counseling in persons  from the risk group originating from families with ALS have been presented.

One of the significant problems in deontology is the degree of awareness of terminally ill patients regarding the diagnosis and prognosis of their disease. This topic is complex and relevant, it touches ethical and psychological, legal and medical aspects. The article discusses the positive and negative aspects of fully informing patients  with amyotrophic lateral sclerosis about the fatal diagnosis. There are 2  clinical cases reflecting different approaches of this complex issue: full awareness and concealment of the diagnosis.

The main legislative document of the organization of medical care in the Russian Federation “On fundamental healthcare principles in the Russian Federation” and points related to the rare (orphan) diseases are  discussed. The organization of care, rules for managing a federal  registry of orphan diseases and routing of patients with main orphan nosological forms for which treatment is known are presented.