№1, 2021, volume 17

Purpose: to develop and propose an algorithm for timely and accessible clinical diagnostics and basic principles of treatment of patients with MELAS syndrome (one of the most common diseases in the group of mitochondrial diseases (MB)), based on the example of a specific clinical case. The prevalence of this pathology cannot be estimated due to the variety of clinical manifestations and, as a consequence, due to the complexity of timely diagnostics. Diagnosis of this disease, from the onset of the initial clinical manifestations to the clear establishment of the MELAS syndrome, often takes years. We present and discuss clear clinical criteria for making a diagnosis, as well as the features of neu-roimaging changes in the brain, which allows us to detect the disease at the earliest stage. A detailed clinical analysis of patient B.'s own observation, born in 1993, with MELAS syndrome is presented. This clinical case clearly demonstrates the emerging difficulties for the earliest diagnosis of this pathology in patients with MB. Despite the phenotypic heterogeneity of mitochondrial disorders, the relationship between clinical signs and additional laboratory data, genetic verification of the diagnosis can provide the clinician with sufficiently important information to unravel the genetic defect, which allows for an earlier diagnosis and prescribing timely treatment.

Objective: to assess the prevalence of cognitive and affective impairment in patients with chronic lymphoproliferative diseases. Material and Methods. 130 patients (59 women and 71 men) aged 42 to 86 years were examined, including 62 patients with chronic lymphocytic leukemia and 68 with multiple myeloma. The Montreal Cognitive Assessment Scale (MoCA) was used to assess cognitive impairment, and the Hospital Anxiety and Depression Scale (HADS) was used to assess affective impairment. Results. We diagnosed cognitive impairment (MoCA<26) in 78.5% out of 130 patients, while only 33.9% complained of memory loss. The average score on the MoCA scale was 23 [20; 25] points. The level of education and age of the patients influenced the MoCa indices. Almost one third (38 out of 126 patients) had symptoms of subclinical anxiety by HADS, 28 (22.2%) patients had clinical anxiety. Forty six (36.5%) patients had symptoms of subclinical depression by HADS, 23(18.3%) patients had clinical depression. Anxiety rates were higher in women and elderly patients. Conclusion. Most patients had cognitive decline. The development of cognitive impairment in patients is influenced by age, educational level, and affective disorders. Every second patient has manifestations of anxiety and depression of varying severity, while the level of anxiety is higher in women and elderly patients.

Patients with myasthenia gravis have an increased risk of other autoimmune diseases compared to population without myasthenia gravis. The development of two autoimmune diseases in one patient suggests common pathogenetic mechanisms. The article presents a case report of progression of antiphospholipid syndrome in a 44-year-old woman 12 years after onset of myasthenia gravis with an early onset and a high titer of antibodies to acetylcholine receptors, without a history of thymectomy This woman had a good obstetric history. She was diagnosed with antiphospholipid syndrome on the basis of clinical manifestations in form of ischemic stroke, and detection of high levels of antibodies to beta-2-glycoprotein-1 twice with an interval of 12 weeks. In the scientific literature there are limited cases of

The aim is to identify the relationship between the neuropsychological state of the patient and the recovery of his motor deficits due to acute cerebrovascular accident. Material and Methods. The study involved 103 patients with ischemic stroke in the basins of the middle and anterior cerebral arteries. We gave a clinical and neurological assessment of the patient's condition, and conducted neuropsychological testing: Beck Hopelessness Inventory (BHI), the Montreal Cognitive Assessment (MoCA), SF-36, and the Visual-Analog Scale (VAS). The examination was carried out three times: in the acute period of cerebral circulatory disorders, after 2 weeks and 24-36 months. After a long follow-up, all patients were divided into groups: with a favorable and unfavorable outcome. We analyzed which values of these scales are most typical for the selected groups. Results. The indicators of general physical health from the SF-36 (p=0.007), the results of the BHI (p=0.003 and 0.002), and of the VAS (p=0.025) collected after acute ischemic stroke were prognostically significant. For both groups, the most important indicators for the prognosis of the disease were MoCA (p=0.038), BHI (p=0.009), SF-36 (OFZ) (p=0.002), regardless of the period of stroke. Conclusion. The connection between the neuropsychological state of the patient and the restoration of his motor function after stroke was revealed. The considered questionnaires can be included in the multivariate forecast model of the prognosis of stroke as one of the criteria for the outcome of the disease.

Objective: to study the cognitive status of patients in the pre-dialysis period depending on the stage of chronic kidney disease (CKD) and the category of cardiovascular risk (CVR). Material and Methods. We examined 98 patients with CKD in the pre-dialysis period (mean age 47.1 ±11.2 years). The patients were divided into 3 groups according to the criteria of CVR stratification. Group 1 consisted of 32 patients with low and moderate CVR and CKD stage C1 or C2; group 2 included 34 patients with high CVR and CKD stage C3a or C3b; group 3 assumed 32 patients with very high CVR and CKD stage C4. The SAGE test (Self-administered Gerocognitive Examination) was used to assess cognitive functions. Results. Cognitive impairment (Cl) was detected in 57% of the patients: in the 1st group in 37.5%; in the 2nd group in 44.1 %; in 3rd group in 90.5%. Dementia was diagnosed in 19% of patients with Cl. A correlation was found between the severity of Cl, the degree of decrease in glomerular filtration rate, and the educational qualification of patients with CKD in the pre-dialysis period (p<0.001). It was found that the examined persons CKD first of all had memory, constructive-spatial and logical thinking disorders. Conclusion. Chronic kidney disease is an independent risk factor for the development of Cl. Cognitive impairment progressed as the CKD stage elevated and the patient's CVR category increased, and was detected in 37.5% of patients with low or moderate CVR, 44.1% of patients with high CVR, and 90.5% of patients with very high CVR.

Objective: to evaluate the possibility of correcting gait disorders and postural instability in patients with Parkinson's disease using virtual reality method. Material and Methods. 20 patients with Parkinson's disease underwent a 10-day course on a walking simulator with a virtual reality unit. The UPDRS scale and the Freezing of Gait Questionnaire (FoG-Q) were used to assess motor disorders. Results. Training on the simulator with the VR block led to a decrease in the severity of gait disorders by 6.0% in the off state (from 55.13 to 51.81 grades in UPDRS) and by 5.6% in the on state (from 43.69 to 41.25 grades), primarily due to the effect on freezing of gait and postural instability. In addition, there was an improvement in assessment of their own state in patients according to the FoG-Q (from 9.44 to 7.38 grades). In the control group, no statistically significant dynamics was observed. Conclusion. Techniques using virtual reality can be used as an additional method for correcting of motor disorders in patients with Parkinson's disease.

Purpose: to clarify and compare the effectiveness of the method of quantitative autonomic testing on the Case-4 apparatus and cardiovascular functional tests performed by pulse oximetry for the early diagnosis of cardiovascular autonomic neuropathy in patients with type 2 diabetes mellitus and metabolic syndrome. Material and Methods. The study included 30 patients with type 2 diabetes (average age 56.5±13.5 years), 30 patients with metabolic syndrome (average age61±9 years) and 30 healthy subjects (average age 58±10 years), comparable in gender and age with the study groups. The main cardiovascular reflex tests were performed: subjective sensations were assessed using the NSC questionnaire, the severity of deficient neuropathic disorders was assessed by the NIS-LL scale, and neuropathic pain syndrome was assessed by the TSS scale. Results. In the study group of patients with type 2 diabetes, severe cardiac autonomic neuropathy (CAN) was detected in 13.3% of patients, moderate in 40% of patients, and in 46.6% of patients, signs of CAN were not detected. In the group of patients with metabolic syndrome, 10% of patients had severe CAN, 10% had moderate, and 80% of patients had no signs of CAN. In the group of healthy volunteers, no disorders of the autonomic nervous system were identified. Conclusion. The results of pulse oximetry tests with deep breathing were comparable to the results of quantitative autonomic testing with the Case-4 apparatus (p<0.001). The use of pulse oximetry is most expedient in terms of time and consumables in comparison with hardware quantitative vegetative testing.

The review presents modern data on epidemiology, mechanisms of pathogenesis, clinical picture, diagnostics of chronic pain. A complete system of flags of risk factors for pain chronicity used in Europe and the United States is demonstrated. Criteria for diagnostics, physical and instrumental examination of patients with chronic back pain are presented; the issues of back prevention are considered. Conditions aimed at expanding the range of diagnostic studies and coping strategy are discussed. It is concluded that a multidisciplinary approach to the treatment of patients with back pain is advisable and the use of cognitive behavioral therapy is important. The studies on chronic back pain and coping strategies published in the PubMed and eLibrary databases were examined for the period since 2000. The final analysis of the review included 37 studies.

Objective: to analyze awareness level among Saratov's population about acute cerebrovascular accidents (ACVA) based on the results of an online survey. Material and Methods. An online survey among Saratov's residents was realized using the Google Forms platform. The survey included 809 people. Results. The majority of respondents consider arterial hypertension (94.2%), atherosclerosis (86.2%), obesity (85.7%), smoking (84.1%), alcohol abuse (88.4%), high cholesterol in the blood (85.5%), and emotional stress (88.4%) as risk factors for the development of ACVA. Respondents are not sufficiently informed about the role of diabetes mellitus (75.6%), heart rhythm disorders (76.1%), depression (49.7%), and oral contraceptive usage (22.2%) in the development of ACVA; they also underestimate the transient ischemic attack as a predictor of repeated ACVA (55.0%). High proportion of the population finds it difficult to answer questions concerning the care of patients with ACVA. Conclusion. The data indicate a lack of awareness of Saratov's residents about ACVA. Therefore, it is necessary to form a target audience within the framework of the program to raise public awareness about ACVA and develop strategies for preventive medicine.

Modern therapy for multiple sclerosis (MS) is based on a large selection of disease-modifying treatment (DMT). The appointment of DMT is made taking into account the medium- and long-term prospects of their effectiveness. There is a problem of finding predictors of the effectiveness of therapy. The question of determining the risk factors for the onset of reliable MS after the first attack of demyelination remains not fully understood. The analysis of studies published for the period 2006-2020, available for study according to the main scientific bases, is carried out (46 literary sources). Magnetic resonance imaging (MRI) has shown good results in predicting the effectiveness of interferon DMT therapy. MRI as a reliable criterion for the likelihood of transformation into significant multiple sclerosis after the first attack of demyelination. Multimodal evoked potentials (EP) allow assessing degeneration processes with greater sensitivity than MRI. At the moment, only MRI is the most reliable way to assess the progression of the disease and the risks of its phenoconversion. Multimodal evoked potentials and immunological markers allow more sensitive assessment of degeneration. The integrated use of the results of these methods will make it possible to obtain predictors with greater sensitivity and specificity for predicting the course of MS.