Vol 29, No 3 (2022)

Amyotrophic lateral sclerosis (ALS) is a steadily progressive and fatal neurodegenerative disease, which is accompanied by damage to the central and peripheral motor neurons, motor deficits, speech and swallowing disorders, alimentary and respiratory failure. The article presents a brief overview of the currently available information on the genetics of amyotrophic lateral sclerosis (ALS), as well as describes clinical examples of patients with familial ALS from Russia with mutations in the superoxide dismutase-1 (SOD1), angiogenin (ANG), TDP-43 (TARDBP), VAPB, C9orf72 genes. Further research to study mutations in ALS causative genes in Russia is required.

Background. Taking into account the results of experimental and clinical studies demonstrating potential pathogenetic relationships between IgA nephropathy (IgAN) and celiac disease (CD), the association of these diseases in terms of the prevalence and influence of CD on the clinical and laboratory course of IgAN is of scientific interest. It was noted that in patients with IgAN, the prevalence of CD reaches 3.6%. According to the literature, the presence of celiac antibodies in the blood aggravates the course of IgAN in the form of severe proteinuria, erythrocyturia, arterial hypertension and a decrease in eGFR, which reflects the activity of nephropathy and potentially accelerates the progression of chronic kidney disease. Objective. Determination of the prevalence of serological markers (SM) of CD in the blood serum of patients with IgAN and clarification of their diagnostic value in the clinical and laboratory picture of IgAN. Methods. A cross-sectional comparative and prospective study was carried out. The study included 50 patients with morphologically confirmed IgAN. The determination of serological markers of celiac disease (CDSM) in the blood serum was a special diagnostic method. As a result of a comprehensive survey, patients were divided into two groups were fored. The first group (n=10) - with IgAN and positive SM and the second one (n=40) - with IgAN and negative SM. Results. It has been established that the prevalence of CDSM among patients with IgAN was 20%. The most common were IgA antibodies to deamidated gliadin peptides. In patients with positive serum SM, nephropathy activity was associated with more severe proteinuria and arterial hypertension. No statistically significant differences in creatinine, eGFR, and erythrocyturia level could be identified. Conclusion. The results of this study confirm the fact that the presence of CDSM exacerbates the clinical course of IgAN. Despite the absence of typical gastrointestinal symptoms, characteristic disorders of the macro- and microstructures of the small intestinal mucosa, serological testing for the presence of CD markers can be considered as an additional diagnostic method and thus help expand therapeutic approaches to the management of patients with IgAN.

Background. Patients with coronary artery disease (CAD) undergoing cardiac surgery often have a number of comorbidities. The simultaneous use of a large number of drugs can affect the efficacy and safety of drugs used for pain relief. Objective. Evaluation of the efficacy and tolerability of ketoprofen in CAD patients in the postoperative period after cardiac surgery, depending on the comorbid status. Methods. The study included 90 CAD patients in the early postoperative period. Cardiac surgery was performed according to the following indications: clinically significant coronary stenosis, valvular heart disease (stenosis and/or insufficiency of the aortic, mitral, tricuspid valves), aortic aneurysm. Postoperative analgesia was performed using ketoprofen 200 mg/day. The effectiveness of ketoprofen was evaluated by analyzing the intensity of postoperative pain syndrome. Ketoprofen tolerance was assessed by analyzing the incidence of acute renal injury, NSAID-associated dyspepsia, and hepatotoxic reactions in the postoperative period. The intensity of the pain syndrome was assessed using a digital rating scale. The Charlson index was used to quantify the comorbid status. Statistical analysis was performed using the Mann-Whitney test, Fisher’s exact test, and Pearson’sx2 test. Results. Moderate comorbidity was significantly more common in patients under 60 years of age compared to patients over 60 years of age: 19 (73%) and 9 (14%) patients (p<0.001), respectively. High comorbidity was noted in the older age group: 58 (90.6%) and 6 (23%) patients in the groups of 60 and over and under 60 years of age, respectively (p<0.001). There were no significant differences in the intensity of the pain syndrome depending on the degree of comorbidity. There were also no significant differences in adverse effects during anesthesia with ketoprofen, depending on the degree of comorbidity and the number of drugs taken simultaneously. Conclusion. Significant differences in the degree of comorbidity depending on the age group were revealed: moderate comorbidity was significantly more common in patients under the age of 60 years (P<0.001), high comorbidity - in patients over 60 years of age (P<0.001). There were no significant differences in the intensity of the pain syndrome and adverse effects during anesthesia with ketoprofen, depending on the degree of comorbidity.

Background. Apathy is a common condition in many neurological pathologies and is a common complication of stroke. Objective. Evaluation of the risk factors for post-stroke apathy taking into account its comorbidity and influence on the process of restoring impaired neurological functions. Methods. The study included 207patients with new onset ischemic stroke; the mean age of the patients was 66±12 years. The assessment of neurological deficit, the severity of disability, the diagnosis of apathy in accordance with the Starkstein criteria, the diagnosis of depression and asthenia on the first day of a stroke, 14, 28 days, 3, 6 months and 1 year after a stroke were carried out. Results. The frequency of apathy was 23% (47 patients). Using a dimensional approach, clinical groups depending on the comorbidity of apathy with asthenia and depression were identified, and it was found that they are not identical in terms of demographic characteristics, anamnestic data, characteristics of the brain lesion focus, and behavioral patterns of the patient in the post-stroke period. The negative effect of apathy on the severity of neurological deficit, disability and cognitive dysfunction according to MMSE was shown. Conclusion. The data obtained on the heterogeneity of clinical groups, the revealed negative effect of apathy on the degree of neurological deficit and disability indicate the need for diagnosis and correction of this condition in the complex of rehabilitation measures.

Background. Stroke leads to the development of a number of persistent neurological disorders; one of them is paresis of mimic muscles. Currently, there are no validated tools for assessing the severity of central prosoparesis and effective methods for restoring motor functions of the face from the standpoint of evidence-based medicine. Description of the clinical case. The presented clinical case describes the approaches to the diagnosis and correction of facial asymmetry in a stroke patient used by the authors. The complex of rehabilitation measures, in addition to specialized therapeutic exercises, included the introduction of botulinum toxin type A into the muscles of the intact half of the face in order to create optimal conditions for motor rehabilitation. In this article, an injection protocol indicating the target muscles and the doses of botulinum toxin used is provided. As a result of the study, the effectiveness of botulinum therapy in relation to the correction of facial asymmetry in central prosoparesis was demonstrated. Conclusion. A set of measures made it possible to achieve an improvement in symmetry at rest and an increase in the volume of active movements on the affected side of the face in patient K. The effectiveness of the use of Xeomin in the formation of favorable conditions for the uniform restoration of the motor functions of the facial muscles was demonstrated, while it was possible to avoid the formation of pathological motor phenomena. It is necessary to continue accumulating data in studies aimed at evaluation of the effectiveness of BT and developing a comprehensive rehabilitation program for central prosoparesis in order to improve the outcomes of patients’ rehabilitation.

Currently, coronary artery disease is still one of the most urgent problems of cardiology, due to the place of this pathology in the structure of mortality and its impact on the quality of life of patients. On the other hand, due to the widespread use of endovascular methods for the treatment of myocardial infarction, such complications as postinfarction pericarditis and Dressler’s syndrome are less common. At the same time, patients with a complicated course of myocardial infarction often have a comorbid pathology, which is associated with significant difficulties in prescribing drug therapy. The presented clinical case demonstrates the development of a protracted variant of Dressler’s syndrome in a comorbid patient, as well as the associated difficulties in managing the patient and prescribing the advanced pathogenetic therapy. Thorough analysis of clinical manifestations, dynamic monitoring of the patient allowed timely identification of a rare late complication of myocardial infarction, prescribing adequate therapy, thereby ensuring proper rehabilitation.