Aim. Evaluation of the efficacy and safety of onasemnogen abeparvovec (OA) therapy in patients aged 1–34 months with spinal muscular atrophy (SMA) 5q with 2 or 3 copies of the SMN2 gene at preclinical and manifest stages of the disease development in the conditions of Children’s City Multidisciplinary Clinical Specialized Center for High Medical Technologies in Saint Petersburg.

Materials and methods. According to the legislative acts of the Russian Federation and by decision of the Federal Council, children diagnosed with SMA without previous pathogenetic therapy received gene replacement therapy with OA in the conditions of the municipal children’s multidisciplinary clinical hospital in Saint Petersburg. Clinical efficacy was assessed initially and then every 6 months, lasting 24 months, using the motor assessment scales HINE-2 (qualitative neurological scale of infants), CHOP INTEND (for children unable to sit independently), and HFMSE (for patients capable of independent sitting). At the same time, the safety of OA was monitored by changes in clinical, laboratory and instrumental parameters.

Results. 19 children aged 1–34 months with a body weight of less than 21 kg received OA therapy in the period from June 2022 to January 2025. The average dynamics on motor scales every 6 months in children with preclinical and manifest SMA was: CHOP INTEND – +16.1 points, HFMSE – +13.5 points; qualitative changes in neurological status were fixed on the HINE-2 scale. Adverse events (weakness/drowsiness, pyrexia, nausea, vomiting) developed 3–5 days after administration of the drug and were transient in nature. Immune-mediated liver hyperfermentemia of varying severity was detected in all patients: most often with an increase in alanine aminotransferase and aspartate aminotransferase values less than 2 times the norm – 15 (78.9 %) children in the range of 3–4 weeks; 2 (10.5 %) children had a second wave of hyperfermentemia at week 7–8. Severe hyperfermentemia with alanine aminotransferase and aspartate aminotransferase values exceeding two times but less than five times the upper limit of normal, and alanine aminotransferase and aspartate aminotransferase values exceeding five times the upper limit of normal, developed in 3 (15.7 %) of children, which required a change in the dose and duration of prednisone administration. Thrombocytopenia developed in patients at the preclinical and manifest stages of SMA in 4 (21.0 %) and 11 (57.8 %) cases, respectively. Platelet count normalization occurred in the period from 2 to 4 weeks. Troponin I was detected in 10 (52.6 %) children aged 2–8 weeks with less than a twofold increase in the upper limit of normal and decreased with prednisone maintenance doses. All deviations of laboratory parameters had different periods of normalization – from 10 days to 11 months. At the same time, there was no significant clinical deterioration requiring the transfer of patients to the intensive care unit.

Conclusion. The use of OA for the treatment of SMA 5q with 2 or 3 copies of the SMN2 gene at preclinical and manifest stages of the disease in children aged 1 to 34 months demonstrates high efficacy and an acceptable safety profile. Obtaining optimal results is determined by the clinical manifestations at the time of gene replacement therapy and the comorbid background.

Background. The polyetiology of dry eye syndrome requires a whole range of diagnostic measures. In turn, to verify the subtype of dry eye syndrome – burning eye syndrome – it is necessary to record characteristic changes in nerve fibers and the lipid layer of the tear film. This can be done using such methods as laser scanning confocal microscopy, thiascopy and tear osmolarmetry.

Aim. To determine the role of instrumental research methods in the diagnosis of burning eye syndrome.

Materials and methods. 31 patients (14 men, 17 women) aged 18–45 years were examined, the average age of the subjects was 31 ± 3 years. The patients complained of dryness, burning, discomfort during visual work, and eye pain. The control group was formed from 28 healthy volunteers matched for gender and age. The exclusion criteria from the study were: clinical signs of blepharitis and dysfunction of the meibomian glands, rheumatological (rheumatoid arthritis, systemic lupus erythematosus, Sjogren’s syndrome, scleroderma) and oncological diseases. In addition to a functional ophthalmological examination, all patients underwent laser scanning confocal microscopy of the cornea on an HRT III device with a Cornea Rostock corneal module to assess the condition of the epithelium and nerve fibers of the cornea. Thiascopy was used to assess the lipid layer of the tear film.

Results. In the group of patients with burning eye syndrome, the greatest changes in the structure of the nerve fiber were statistically reliably recorded, in comparison with patients with dry eye syndrome and volunteers. The tear osmolarity indicators were close to the results of the control group, no statistically significant difference was recorded between them. According to the results of tiascopy, changes in the lipid layer of the tear film were pronounced: zones with a thickness of more than 0.5 μm and 0.27–0.5 μm averaged 0.04 % and 2.2 %, respectively.

Conclusion. The implementation of specialized instrumental methods and the combined assessment of their results play a decisive role in the diagnosis of burning eye syndrome, which allows for the prescription of appropriate treatment.

Aim. To present Kinematic 4, a software tool designed for automated analysis of reach-to-grasp and object transport movements using data obtained from motion capture systems.

Materials and methods. The software was developed in Python and implements algorithms for automatic detection of key temporal events in motor actions. Initially validated in MATLAB, the algorithmic framework was adapted into a cross-platform desktop application with a graphical user interface. Kinematic 4 processes coordinate data from markers placed on the thumb, index finger, wrist, object, and specialized glasses with a movable shutter. The program identifies six critical time points: experiment onset, hand lifting, finger opening, maximum grasp aperture, object lifting, and object placement.

Results. Comparison between results obtained using Kinematic 4 and those generated by the original MATLAB script demonstrated full consistency. The software was successfully validated on experimental datasets and showed high stability. Its user-friendly interface and automated workflow make it a reliable and reproducible tool for both research and clinical applications.

Conclusion. Kinematic 4 can be effectively used for assessing upper-limb movements in neuroscience and clinical contexts, including the diagnosis of motor impairments and monitoring of recovery dynamics. Future development may include integration with other biosignals and machine learning modules for predictive analytics.

Aim. Using factor analysis, identify and rank the parameters potentially influencing the course of amyotrophic lateral sclerosis (ALS) according to their significance.

Materials and methods. A prospective cohort study of 70 patients with ALS diagnosed according to the Gold Coast criteria (2020) was performed. We studied basic socio-demographic indicators, education and social status, geography of living, anamnestic data about the disease (appearance of the first symptoms, onset, etc.), clinical picture (symptoms in the main muscle groups), progression of ALSFRS-R score, environmental risk factors (including 23 features, presented in gradation from the lowest to the highest expression).

Results. The mean age of the patients was 60.62 ± 10.2 years. The predominant proportion of patients was female,

61.4 % (n = 43), the proportion of males was 38.6 % (n = 27). The mean time from onset of symptoms to inclusion in the study and questionnaire was 12 months (95 % confidence interval 9.00–21.50). Low level of education, onset from bulbar symptoms and neck muscle involvement, severity of oral automatism reflexes, difficulty in walking and standing, contact with heavy metals, occupational sports and high stress level were correlated with rapid progression of ALS, while high level of physical activity, frequent caffeine consumption, antioxidant intake, vitamin D deficiency were observed in slow progression of ALS.

Conclusion. Our data confirm that ALS is a clinically and pathogenetically heterogeneous disease, whose rate of progression is influenced by a wide range of clinical, anamnestic, and environmental factors.

Background. Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the nervous system, the prevalence of which varies considerably in different regions of the world. Epidemiologic studies of ALS in the Russian Federation are scarce.

Aim. To analyze the epidemiological features of ALS in the Republic of Bashkortostan (RB) according to the data of the unified state information system in the field of health care and clinical characteristics according to the hospital register for the period 2013–2024.

Materials and methods. A retrospective analysis of electronic medical records of all patients living in the RB who were diagnosed with G12.2 according to the 10^th revision of the International Classification of Diseases within analyzed period was performed. The study of clinical characteristics of patients with ALS was done using data from the hospital registry, which was maintained since 2013.

Results. The primary incidence of ALS in RB increased from 0.7 to 1.1–1.3 cases per 100,000 population over the period 2013–2024. The overall incidence of ALS for this period increased more than 3-fold, from 0.8 to 2.7 cases per 100 thousand population. The first manifestations of the disease were more often noted at the age of 53–66 years, among patients prevailed rural residents (59.5 %), people of physical labor (48.3 %). Men were more often suffered from ALS in the group with onset before the age of 45 years (p = 0.028), women more often had bulbar form of the disease (p = 0.046). The diagnosis was established on average one year after the development of the first symptoms of the disease.

Conclusion. There was an increase in the incidence of ALS over 2012–2024, which probably reflects improved detection of the disease in the RB. Future studies should clarify the role of environmental and biological factors in the development of ALS.

We present a clinical case of suppression of cervical segmental motor evoked potential in a child with post anoxic encephalopathy. We performed a dynamic examination of a 4-year-old female patient after acute post hypoxia (freshwater drowning) using single-pulse magnetic stimulation, magnetic resonance tractography with reconstruction of the corticospinal tract from the primary motor cortex and supplemental area, segmentation and morphometry of brain. Post hypoxic damage in a 4-year-old child resulted not only in the loss of cortical motor evoked potentials, but also in the suppression of segmental cervical motor evoked potentials with preservation of peripheral ones. The obtained data indicate the negative effect of hypoxia on the conducting function of the proximal part of the peripheral nervous system, which probably aggravates the process of motor recovery of patients with post anoxic encephalopathy.