Vol 14, No 1 (2020)

Introduction. To date, patients with chronic disorders of consciousness (CDC) represent a serious problem from the medical, social, and economic points of view. Because of the relatively small incidence of this condition, accumulation of the sufficient experience in its diagnosis and treatment remains a complex task, while the lack of a unified approach among Russian specialists to classification of the CDC makes it even harder to solve. At the same time, there are widely used terms overseas that are accepted by the medical community and used in current recommendations.

Aim. Specialists of the Federal State Funded Research Institution, Research Centre of Neurology, have put forward an initiative to create a Russian Working Group for Chronic Disorders of Consciousness, to discuss and approve unified Russian terminology for CDC and criteria for classifying CDC, and to then develop clinical recommendations for the diagnosis and treatment of patients with CDC.

Results. The first roundtable meeting on the issues related to CDC took place at the ХI Russian Congress of Neurologists in June 2019. The attendees included staff members from the FSFRI Research Centre of Neurology, FSFRI Federal Research and Clinical Centre of Intensive Care Medicine and Rehabilitation Medicine, the Polenov Neurosurgical Institute - Branch of the FSFI Almazov National Medical Research Centre, FSFEI HE Ural State Medical University, SFI Saint Petersburg I.I. Dzhanelidze Research Institute of Emergency Medicine, FSAEI HE Pirogov Russian National Research Medical University, SFHI Research Institute of Emergency Paediatric Surgery and Traumatology of the Moscow Department of Health, and the SFHI N.I. Sklifosovsky Research Institute of Emergency Medicine of the Moscow Department of Health. Based on the results of the meeting and voting, a list of terms was composed to describe CDC and the corresponding diagnostic criteria were approved. The roundtable discussion also included the working group’s future plans, and the development of a plan for Russian recommendations for the diagnosis and treatment of the CDC.

Conclusion. The terms and criteria mentioned in the article are recommended for use in clinical practice and research in Russia, for patients with CDC.

Introduction. Haemostasis and functional changes of the vascular wall are the strategic and actively developing aspects in the study of ischaemic stroke pathogenesis.

The aim of current work was to examine the relationship between hormonal status, thrombogenic blood factors, and the structural and functional changes in the vascular wall in women after atherothrombotic stroke in the internal carotid territory.

Materials and methods. Twenty-nine women (mean age 55 years) in the first 3 months after atherothrombotic stroke, diagnosed using the international TOAST criteria, were included in the study. The severity of neurological impairment was evaluated using the NIH Stroke Scale. The follicular stimulating hormone (FSH) and homocysteine levels, along with haemostasis parameters and rheological properties of red blood cells were examined. Ultrasound of the major arteries of the head, assessment of the elastic properties and mural shear stress in the common carotid artery, as well as evaluation of the vasomotor function of the brachial artery endothelium were conducted.

Results. Clinical differences in the atherosclerotic stroke were found in women depending on their FSH levels: moderate and severe neurological impairments were noted when the FSG level was ³30 mIU/mL, while mild impairments were present when the FSG level was <30 mIU/mL. It was found that a high FSH level in women is associated with significant arterial hypertension, obesity and type 2 diabetes mellitus. The group of women with high FSH levels had elevated fibrinogen, homocysteine, von Willebrand factor, erythrocyte aggregation amplitude, along with the accelerated formation of 3D aggregates and increased erythrocyte aggregate strength. In women with insufficient estrogen production in the ovaries (FSH ³30 mIU/mL), the stiffness index of the common carotid artery wall was significantly higher, while the mural shear stress and endothelial vasomotor function were lower than in the group of women with preserved ovarian function.

Conclusions. A link between menopause, increased blood thrombogenicity, and structural and functional changes in the vascular wall (increased stiffness, reduced mural shear stress and endothelial vasomotor function) was found in women after atherothrombotic stroke.

Introduction. The autosomal dominant hereditary spastic paraplegia type 3 (SPG3), associated with the ATL1 gene, is a common form of the hereditary spastic paraplegia (HSP). The molecular genetic and clinical features of the SPG3 have not been sufficiently studied.

Study aim: to conduct the first clinical, molecular, and genetic study of HSP in Russia, using a high-throughput exome sequencing technology — massively parallel sequencing (MPS).

Materials and methods. Study subject: 14 identified families with SPG3. Clinical and molecular genetic methods used: Sanger sequencing, MPS panel for spastic paraplegia, multiplex ligation-dependent probe amplification.

Results. SPG3 made up 7.2% of the 195 examined families, 13.6% of 103 molecularly identified cases, and 16.9% of the dominant forms, coming in second place after SPG4 (>50%). We found 9 missense mutations in 14 families (7 in ‘hot exons’), with 4 new ones and the known p.Arg415Trp mutation identified in 4 families. One case was caused by a de novo mutation, the others were familial; incomplete penetrance was found in 5 families (subclinical cases). Gender distribution of the probands was equal, but there were more males among the affected relatives. Most of the 25 examined patients, as well as the relatives with clinical data, had early-onset (in the first decade of life, often at the age of 1 to 3 years), uncomplicated HSP with slow progression; many of those subjects were initially diagnosed with a cerebral palsy. Subclinical axonal polyneuropathy was found in 3 out of 6 cases using EMG. Atypical severe paraparesis was combined with skeletal pathology (likely independent of the major condition) in one female patient. Intellectual disability in males of another family was also considered to be an independent condition.

Conclusion. SPG3 has a significant prevalence among HSP in Russian patients. The clinical features in most cases are similar and relatively non-severe; clinical diagnosis may be challenging, especially in non-familial and non-apparent familial (incomplete penetrance) cases, as well as when combined with other conditions. An incorrect diagnosis of cerebral palsy is often made. A verified diagnosis is necessary for genetic counselling and is important for patient management. MPS methods are the most informative in the molecular genetic diagnosis of HSP.

Introduction. Experimental and clinical studies have repeatedly shown the interplay between the intestinal microbiota properties and the nervous system, with a clear link established between changes in microbiota and the development of a neurodegenerative process. It is thought that inflammation and microbiota disturbances provoke the spread of pathological forms of a-synuclein in the nervous system, which is recognized as the main cause of neurodegeneration in Parkinson disease (PD).

Aim of the study: to identify the effect of a pharmabiotic based on a Lactobacillus fermentum U-21 strain in Wistar rats with paraquat-induced parkinsonism.

Materials and methods. Two groups of animals received intra-abdominal paraquat injections (8 doses of 10 mg/kg, every second day for 15 days) and then received orally either a 0.9% NaCl solution, or the U-21 preparation daily for 15 days. The control groups received 0.9% NaCl injections and either a U-21 preparation, or a 0.9% NaCl solution orally under the same regimen. Motor activity was tested in the open field and narrowing beam walking tests. Changes in tyrosine hydroxylase positive enteric plexus fibers and the in quantity of intestinal villi goblet cells were measured morphologically.

Results. Paraquat administration led to a gradual animal death, however, administration of the U-21 increased their survival rate and preserved their motor activity at the level of the control rats. Oral administration of the pharmabiotic only did not alter the animals’ motor activity. Paraquat reduced density of the tyrosine hydroxylase positive fibers and increased the number of goblet cells, while the study drug partially diminished the changes induced by paraquat.

Conclusion. The U-21 preparation demonstrated high biological activity in the neurotoxin-induced model of PD, which justifies further, extended studies of its effects.

Ischaemic stroke (IS) is one of the leading causes of death and disability in the world. The consequences of IS manifest as severe and persistent neurological symptoms. The currently used methods for the management of IS are insufficient, partly because of incomplete understanding of the molecular mechanisms that occur in IS. Long noncoding RNA (lncRNAs) are noncoding RNAs that are longer than 200 nucleotides. It has been shown that lncRNAs control many processes: transcription, translation, regulation of gene expression, cell cycle regulation, apoptosis, cell proliferation, and differentiation. There is plenty of evidence that lncRNAs play a direct role in the pathogenesis of many human diseases, including IS. LncRNAs are found in the human bodily fluids, such as blood, urine, cerebrospinal fluid, and saliva. The expression profile of these circulating lncRNAs consists of a certain part of the cells, where they are modified and secreted in accordance with the physiological and pathological status of those cells. Due to their various ways of transport from cells into bodily fluids within exosomes or liposomes, lncRNAs are protected from the effect of RNases and remain in a stable form. Because of this, circulating lncRNAs are considered as novel biomarkers, which are of interest in many diseases, including IS. It likely appears that lncRNAs have the potential to be used in the diagnosis, management, and prevention of IS.

Spasticity after stroke is a factor that causes disability and restricts activities of daily living, and represents a problem for both doctors and patients’ relatives. At the present time, the modified Ashworth scale (MAS) is a useful method of assessing increased muscle tone in patients after a cerebrovascular incident.

The aim of the work is the linguistic and cultural adaptation of the MAS, with subsequent evaluation of its psychometric properties.

Materials and methods. The study included 50 patients. The validation procedure consisted of linguistic and cultural adaptation and evaluation of the psychometric properties of the Russian language version of the MAS. Test-retest was used to examine reliability (calculating Spearman’s rank correlation coefficient) and Cohen’s kappa coefficient was used to evaluate inter-rater agreement. Criterion validity was assessed by comparing the MAS results with the Spasticity Scale score of the Research Centre of Neurology. Sensitivity was measured using Wilcoxon nonparametric test, which reflects the statistical significance of intertest differences before and after rehabilitation measures.

Results. Test-retest analysis showed a significant correlation (0.87) between reassessment results. Inter-rater reliability was average (0.56), which confirms the scale’s subjectivity and proves that patient assessment over time should be performed by the same investigator whenever possible. The correlation coefficient between the MAS and the Spasticity Scale of the Research Centre of Neurology was 0.79. Statistically significant differences were found when patients were reassessed after rehabilitation treatment (p<0.0001).

Conclusion. The Russian version of the MAS is a valid, reliable, and sensitive instrument, which can be recommended for use in clinical practice, both for the initial assessment of spasticity and for monitoring the effect of treatment.

Introduction. Triphasic waves in an electroencephalogram (EEG) in patients with decreased alertness traditionally is associated with hepatic encephalopathy. The development of digital technologies and the introduction of systems that allow long-term EEG monitoring of the neurocritical care patients has led to accumulation of significant experience in recording triphasic waves in various metabolic, toxic, and structural brain disorders, as well as in nonconvulsive status epilepticus.

Materials and methods. We present a case of diagnosis and successful treatment of a nonconvulsive status epilepticus, that developed in a female patient after CABG, and that presented electrographically as a triphasic wave pattern.

Results. Description of the patient’s EEG according to the classification of rhythmic and periodic patterns of the American Clinical Neurophysiology Society and the use of clinical and EEG criteria of nonconvulsive status epilepticus of the International League Against Epilepsy enabled us to correctly diagnose the cause of her decreased alertness and other neurological symptoms. Proper selection of the antiepileptic drugs along with monitoring of daily EEG recordings led to a recovery of consciousness in the patient and to normalization of the EEG pattern, which confirmed the clinical hypothesis of a nonconvulsive status epilepticus.

Conclusions. Utilization of the modern clinical and electrographic classifications enables the diagnosis of a nonconvulsive epileptic seizure and status epilepticus when the EEG pattern is ambiguous and traditionally associated with other conditions. EEG monitoring must be performed in patients with a sudden deterioration of consciousness that cannot be explained by brain imaging studies.