[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene]. / Sluchai bokovogo amiotroficheskogo skleroza, svyazannogo s novoi mutatsiei v gene ERBB4.

Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the ERBB4 gene (ALS19) has been reported in 2013. A protein encoded by the ERBB4 is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the ERBB4 gene, with early bulbar onset and slow progression of the disease within 10 years.

[The impact of the impairment of social cognitive functions in acute stage of stroke on its functional outcomes]. / Vliyanie narushenii sotsial'nykh kognitivnykh funktsii v ostrom periode ishemicheskogo insul'ta na ego funktsional'nye iskhody.

OBJECTIVE: To analyze the influence of the impairment of social cognitive functions (SCF) in acute phase of ischemic stroke (IS) on its functional outcomes in 6 months. MATERIAL AND METHODS: One hundred patients with IS were included in the study. The assessment of social-demographic, clinical characteristics and SCF (theory of mind (ToM), affective empathy, social empathy) of the patients on the day 10 after stroke was conducted. Patients underwent standard laboratory tests of blood and urine. Functional outcomes in 6 months were recorded; score ≥3 on the modified Rankin scale (mRs) indicated unfavorable outcome. Multiple linear regression analysis was performed to identify independent predictors of functional outcomes of stroke in 6 months. RESULTS: Patients with unfavorable outcomes in 6 months after stroke in acute phase had more severe neurological deficit, more prominent disability level, lower mobility, severer impairment of SCF and lower level of total protein in biochemical analysis of blood. The independent predictors of functional outcomes of IS in 6 months included severity of the impairment of SCF (namely, ToM) according to the Reading the Mind in the Eyes test and severity of functional impairment on admission assessed by mRs. CONCLUSION: Changes of SCF, particularly of ToM, in the acute phase of IS are associated with its unfavorable functional outcomes in 6 months.

[Promising approaches to the pathogenetic therapy of amyotrophic lateral sclerosis]. / Perspektivnye podkhody k patogeneticheskoi terapii bokovogo amiotroficheskogo skleroza.

Amyotrophic lateral sclerosis is a severe incurable disease of the nervous system. Currently only methods of palliative care for the patients with this disease are available. Few medications for the pathogenetic therapy are registered in some countries, i.e. riluzole, edaravon, sodium phenylbutyrate/taurursodiol as well as tofersen (conditionally). Their efficacy is relatively low. The main directions in the development of pathogenetic therapy of ALS include gene therapy, use of stem cells, immunomodulators, agents affecting gut microbiota. A search is also underway for low-molecular compounds with neuroprotective and antioxidant properties. Perspective direction is prevention of ALS. This will be possible when biomarkers for identification of patients in pre-manifest/prodromal stage are detected.

[A case of COVID-associated encephalopathy in a patient with multiple sclerosis]. / Klinicheskii sluchai COVID-assotsiirovannoi entsefalopatii u patsienta s rasseyannym sklerozom.

A case of acute encephalopathy manifested with impaired consciousness, hemichorrhea, speech and cognitive impairment in a female patient with COVID-19 and multiple sclerosis is presented. In the literature, there are isolated reports of such a combination of diseases, and therefore difficulties arise in carrying out differential diagnosis and prescribing therapy. Given the limited knowledge about the long-term consequences of COVID-19, systematic analysis of such cases and follow-up of such patients is necessary.

[CT-predictors of unfavorable outcome in hemorrhagic stroke]. / KT-prediktory neblagopriyatnogo iskhoda gemorragicheskogo insul'ta.

OBJECTIVE: To analyze the relationship between the changes on non-contrast CT of the head in patients with acute hemorrhagic stroke and its unfavorable outcome within 90 days. MATERIAL AND METHODS: The retrospective analysis of the clinical, demographic parameters and results of CT of the head of all patients admitted to the stroke unit of the district hospital between January 2015 and December 2021 was performed. The data of 131 patients were included in the work (52% males), average age was 65.75±14.1. RESULTS: Fatal outcomes were recorded in 13.7% of cases. The age of the patient, severity of neurological deficit and CT-signs predicting hematoma expansion were independent predictors of unfavorable outcomes of hemorrhagic stroke within 90 days. CONCLUSION: Detection of the sings predicting hematoma enlargement on CT scans improves prognostication of the outcomes of hemorrhagic stroke.

[Emotional disorders after stroke]. / Emotsional'nye rasstroistva posle insul'ta.

Emotional disorders are common among patients after stroke. They include anger, fear, emotional expression control (uncontrollable crying, laughing), emotional indifference (apathy), disorders of emotion recognition and emotional empathy. They might develop independently or as a presentation of depression, anxiety, catastrophic reaction, posttraumatic stress disorder etc. Treatment of post-stroke emotional disorders include pharmacotherapy, psychotherapy, neuromodulation.

[The influence of uric acid on the course of amyotrophic lateral sclerosis]. / Vliyanie mochevoi kisloty na techenie bokovogo amiotroficheskogo skleroza.

Uric acid has antioxidant and neuroprotective properties. A number of studies show that high levels of uric acid may have a positive influence on the course of amyotrophic lateral sclerosis (ALS), especially in males. The frequency of ALS is lower in patients with gout than in the general population. We present a case of a patient with gout and slowly progressive ALS. More research is needed on the potential role of uric acid in ALS and other neurodegenerative disorders.

[Digital technologies in the assessment of neurological status]. / Tsifrovye tekhnologii v otsenke nevrologicheskogo statusa.

Digital technologies (DT) can be used at all stages of the neurologist's work with the patient. The medical professional can obtain online information on the patient's complaints and history. DT may help to assess cognitive functions, muscular power, details of the movements including gate. The methods of the assessment of sensory functions are being currently developed. The methods of the assessment of the olfaction, vision, oculomotor function, pupillary reactions, mimic muscles, hearing and balance are also developed, however the methods of assessment of the function of trigeminal nerve, movement of the head, neck and tongue using DT are not available. The assessment of the reflexes using DT is not developed yet. The use of DT is possible in telemedicine, in long-term monitoring of the neurological status of the patient, as well as in the clinical exam in order to obtain additional, more detailed data.

[A clinical case of multiple sclerosis with an episode of schizophrenia-like syndrome]. / Rasseyannyi skleroz s epizodom shizofrenopodobnogo sindroma.

The article presents a clinical observation of a schizophrenia-like disorder in a patient with multiple sclerosis (MS). The patient had highly active MS with a relapsing course, the diagnosis was made based on the McDonald 2017 criteria. During the course of a demyelinating disease of the nervous system, the patient developed an episode of psychotic disorders with symptoms of mutism, hallucinations, delusions and impaired thinking, which was quickly stopped in stationary conditions. This case is of particular interest to neurologists and psychiatrists, since psychotic disorders occur in MS patients and cause difficulties in diagnosis and treatment.

[An analysis of clinical and laboratory characteristics of patients with ischemic stroke and COVID-19]. / Analiz kliniko-laboratornykh kharakteristik patsientov s ishemicheskim insul'tom, assotsiirovannym s COVID-19.

OBJECTIVE: To analyze clinical and laboratory characteristics of patients with ischemic stroke associated with COVID-19. MATERIAL AND METHODS: A retrospective analysis of all cases of COVID-19, including those complicated with ischemic stroke, admitted to the multispecialty infectious hospital in Ufa (Russia) in 2020, was performed. Multivariate analysis was used to identify the independent predictors of the development of ischemic stroke in patients with COVID-19. RESULTS: Eleven thousand forty hundred and thirty-two patients were admitted to the multidisciplinary infectious hospital during 2020, 1226 of them also suffered from ischemic stroke. Independent predictors of ischemic stroke in COVID-19 included age and laboratory parameters: increase in number of leucocytes, erythrocytes and platelets, increase of the level of creatinine, glucose, total bilirubin and decrease of the level of total protein, and activated partial thromboplastin time. CONCLUSION: Elderly people, patients with prominent systemic inflammatory response, which presented with leukocytosis, hypercoagulation, multiorgan failure of different severity and hypoproteinemia, were at higher risk of the development of ischemic stroke in COVID-19.

[Electrocardiographic predictors of the poor outcome of hemorrhagic stroke]. / Elektrokardiograficheskie prediktory neblagopriyatnogo iskhoda gemorragicheskogo insul'ta.

OBJECTIVE: To analyze the relationship between electrocardiogram (ECG) parameters in the acute period of hemorrhagic stroke and its poor outcome within 90 days. MATERIAL AND METHODS: ECG data of 133 patients with hemorrhagic stroke recorded upon admission to the primary vascular department were analyzed. RESULTS: Eighteen percent out of 133 patients died within 90 days. The only ECG-predictor of the poor outcome of hemorrhagic stroke was the prolongation of corrected QT interval (QTc). CONCLUSION: The length of QTc should be taken into account while assessing patients with hemorrhagic stroke. The patients with the abnormal QTc are at higher risk of the development of cardiac complications and death.

[Neuropsychiatric presentations of amyotrophic lateral sclerosis]. / Neiropsikhiatricheskie proyavleniya bokovogo amiotroficheskogo skleroza.

Neuropsychiatric presentations are observed in a substantial number of patients with amyotrophic lateral sclerosis (ALS). Severe behavioral disorders develop in ALS combined with frontotemporal dementia, which are considered to be a disease continuum. Psychiatric disorders in ALS with predominantly motor symptoms are less prominent and mostly presented with apathy. Psychiatric disorders in ALS by their origin could be psychogenic, reflecting the patients' reactions on severe disease, and organic, developing as a result of degeneration of central motor neurons and disconnection between fronto-subcortical and frontotemporal loops. An important role in the development of psychiatric disorders in ALS belongs to genetic factors, in particular to hexanucleotide expansion in the C9orf72 gene. During the first months after establishing the diagnosis of ALS, there is the high risk of developing depressive disorders, which in severe cases can lead to suicide. More research is needed in this area.

[Clinical and laboratory predictors of unfavorable outcome in hemorrhagic stroke]. / Kliniko-laboratornye prediktory neblagopriyatnogo iskhoda gemorragicheskogo insul'ta.

OBJECTIVE: The study was to analyze the relationship laboratory parameters of the blood in acute phase of hemorrhagic stroke and its unfavorable outcomes within 90 days. MATERIAL AND METHODS: We performed retrospective analysis of 122 patients with hemorrhagic stroke from Dyurtyuli district hospital between 2015 and 2020. The laboratory parameters in patients with favorable and unfavorable outcomes were compared. Multivariate analysis was performed to identify the independent predictors of death after hemorrhagic stroke. RESULTS: Death within 90 days after hemorrhagic stroke was registered in 16 cases (13%). In this group of patients the count of RBC, lymphocytes, prothrombin index, hemoglobin level were lower, count of WBC, neutrophil-lymphocyte ratio (NLR) and INR were higher (p<0.05). Patients' age, stroke severity according to NIHSS, hemoglobin level, NLR were the independent predictors of death in patients with hemorrhagic stroke according to multivariate analysis. CONCLUSION: Standard laboratory analyses can predict the outcome of hemorrhagic stroke.

[Socioeconomic factors and stroke]. / Sotsial'no-ekonomicheskie faktory i tserebral'nyi insul't.

Low socioeconomic status increases the risk of development of stroke by 67%, it also has negative influence on its severity and outcomes. The mortality among stroke survivors with low socioeconomic status is higher by 39% in comparison to those with high socioeconomic status. The link between socioeconomic status and increased risk of stroke and its poor outcomes could be explained by higher frequency of vascular risk factors, lower compliance, late presentation to hospital after a stroke onset and lower access to high-quality specialized medical care in some countries. Socioeconomic factors should be taken into account while planning stroke prevention measures.

[Clinical manifestations of COVID-19 in children]. / Nevrologicheskie proyavleniya COVID-19 u detei.

The neurological symptoms of COVID-19 in children (in Dyurtyuli area, Republic of Bashkortostan) are analyzed and brief review of the literature is undertaken in the paper. 137 children underwent swab test for COVID-19. The disease was diagnosed in 9 of them. Only respiratory symptoms were observed in 3 children, a combination of respiratory with anosmia or/and headache - in 3, asymptomatic form - in another 3. A case of a 7-years old girl suffering from COVID-19 with respiratory symptoms as well as anosmia and headache is presented. According to the review of the literature, COVID - 19 in children is usually milder than in adults, but in some cases may lead to neurological consequences. Multisystem inflammatory syndrome may lead to the development symptoms of encephalopathy (altered mental status, headache) and stroke. Autoimmune complications such as Gillian-Barre syndrome develop simultaneously or after resolving of the infectious process. The development of viral meningoencephalitis in COVID-19 is questionable.

[Validation of the Russian version of the Fugl-Meyer Assessment of Physical Performance for assessment of patients with post-stroke paresis]. / Validatsiya russkoyazychnoi versii shkaly Fugl-Meiera dlya otsenki sostoyaniya patsientov s postinsul'tnym parezom.

OBJECTIVE: To perform linguistic and cultural adaptation of the Fugl-Meyer Assessment of Physical Performance. MATERIALS AND METHODS: The study for assessment of psychometric properties included 53 post-stroke patients with neurological deficit presented by hemiparesis of different severity. The patients were assessed twice: at admission and after 14 days of treatment and rehabilitation procedures. The Russian version of the Fugl-Meyer Assessment of Physical Performance was developed with consideration of language and cultural characteristics. RESULTS AND CONCLUSION: Results of assessment of psychometric properties of the Russian-language version show its high validity, reliability and sensitivity. The developed Russian-language version of Fugl-Meyer Assessment of Physical Performance is recommended for using by neurologists and rehabilitation specialists both in everyday clinical practice and in clinical studies of patients with post-stroke paresis. The results obtained in the study show necessity for pre-training of specialists who perform assessment of patients with post-stroke paresis using the Fugl-Meyer Assessment of Physical Performance.

[Perioperative strokes in cardiac surgery]. / Perioperatsionnye insul'ty pri kardiokhirurgicheskikh vmeshatel'stvakh.

The frequency of perioperative stroke in cardiosurgical practice may reach up to 10%. The risk of stroke is especially high after coronary artery bypass surgery and valve replacement. Perioperative stroke is related to embolism with the fragments of atherosclerotic plaque, arterial hypotension, cardiac arrhythmias, hypercoagulation, etc. The likelihood of stroke can be reduced by preoperative assessment of the patient. It is important to control blood pressure and saturation during the surgery. The manipulation on aorta should be minimized in order to reduce the risk of perioperative stroke. Important role belongs to timely identification of those who developed stroke after surgery. The only possible method of reperfusion therapy in perioperative stroke is mechanical thrombectomy.

[Various types of vertigo and balance disorders in patients with Meniere's disease]. / Razlichnye formy golovokruzheniya i narusheniya ravnovesiya pri bolezni Men'era.

Vertigo and balance disorders in Meniere's disease (MD) may have various etiology. The aim of the review is discussing pathogenetic mechanisms of the typical vertiginous paroxysms in MD, resulting from endolymphatic hydrops as well as analysis of etiology, pathogenesis, clinical course and basic treatment of paroxysmal and permanent forms of vertigo and balance disorders, caused by other conditions, associated with MD. We discussed the course of MD complicated by vestibular migraine, benign positional paroxysmal vertigo, functional dizziness, bilateral vestibulopathy and vestibular drop-attacks.

[Clinical and pathogenetic aspects of positional nystagmus]. / Kliniko-patogeneticheskie aspekty pozitsionnogo nistagma.

Positional nystagmus (PN) is a heterogeneous clinical phenomenon. Most often it develops in benign positional paroxysmal vertigo as a result of otolithiasis. Rarely PN is observed in cases of lesion location in the cerebellum and brainstem. Recently a theory of light cupula was suggested to explain persisting geotropic PN. It explains the development of nystagmus by the changes in the ratio of the density of cupula to the density of endolymph, making the former sensitive to gravitational forces. Several theories were suggested: lighter cupula theory, heavier endolymph theory, theories of light debris and of density difference between perilymph and endolymph. However, the exact mechanism of light cupula syndrome is unclear. Clear diagnosis of the causes of PN requires detailed evaluation of neurological status with the use of diagnostic tests and additional research methods.

[Disorders of social cognitive functions in patients after stroke]. / Narushenie sotsial'nykh kognitivnykh funktsii u patsientov posle tserebral'nogo insul'ta.

Social cognitive functions used to encode and decode social information, and are critical for people to understand themselves and others, as well as the norms and procedures of the social world. They could be subdivided into theory of mind, social perception, affective empathy and social behavior. From neuroanatomical viewpoint disorders of social cognitive functions are related to the dysfunction of the certain areas of frontal and temporal lobes of the brain and their connections. In contrast to psychiatric disorders social cognitive deficit is heterogeneous in its nature and depends on the lesion location. Disorders of theory of mind, social perception and social behavior significantly more often are seen in patients after stroke than in healthy people. Social cognitive deficit has a negative effect on the outcome of stroke. More research is needed in this area.