[Experience with the use of risdiplam in a familial case of spinal muscular atrophy 5q in patients with a homozygous deletion of the SMN1 gene and the same copy number of the SMN2 gene]. / Opyt primeneniya risdiplama pri semeinom sluchae spinal'noi myshechnoi atrofii 5q u patsientov s gomozigotnoi deletsiei gena SMN1 i odinakovym kolichestvom kopii gena SMN2.

Advances in the treatment of spinal muscular atrophy (SMA) have revolutionized the field. SMA is a rare autosomal recessive neurodegenerative motor neuron disease in which wide phenotypic variability has been described. The rate of increase in neurological deficit and the severity of the disease is mainly determined by the amount of functional SMN (Survival of Motor Neuron) protein. However, the clinical picture may differ significantly in patients carrying homozygous deletions of the SMN1 gene (Survival of Motor Neuron 1) and an identical number of copies of the SMN2 gene (Survival of Motor Neuron 2). A family clinical case of adult patients with spinal muscular atrophy 5q with a homozygous deletion of the SMN1 gene and the same number of copies of the SMN2 gene, having a different clinical picture of the disease, is presented, and the dynamics of the condition against the background of oral pathogenetic therapy is presented.

[The use of monoclonal antibodies in the treatment of patients with high-active multiple sclerosis in real clinical practice]. / Primenenie monoklonal'nykh antitel v lechenii bol'nykh vysokoaktivnym rasseyannym sklerozom v real'noi klinicheskoi praktike.

OBJECTIVE: To study the efficacy of ocrelizumab (OCR) and natalizumab (NAT) using indicators of activity and progression in patients with highly active multiple sclerosis (HAMS) during the first year of therapy in real clinical practice. MATERIAL AND METHODS: The study included 110 patients with HAMS and 13 patients with rapidly progressive MS (RPMS), aged 19 to 60 years, who received monoclonal antibody (MAT) therapy for 12 months. Group 1 consisted of 77 patients receiving NAT therapy, group 2 of 46 patients receiving OCR therapy. To assess the efficacy of therapy, we used indicators of the average frequency of exacerbations per year, EDSS estimates, and MRI data. RESULTS: EDSS score at the time of initiation of MAT therapy was 2.4±1.0 in group 1 and 2.8±1.2 in group 2 (p=0.047); 12 months after the start of MAT therapy, EDSS score in group 1 decreased slightly (p=0.001), in group 2 it has not changed. The frequency of exacerbations per year after the start of MAT therapy was 0.04±0.2 in group 1 and 0.07±0.2 in group 2 (p<0.0001 in both groups). The number of foci accumulating gadolinium detected during the year was 3 in group 1, one in group 2 (p=0.629 between groups). Subgroups of patients who received line 1 DMT (n=22) or NAT (n=21) before the start of OCR therapy were considered separately. In both subgroups, a stable assessment of EDSS was noted, the average annual number of exacerbations did not differ (p=0.117). In patients with RPMS after a year of MAT therapy, EDSS scores were stable, the average annual frequency of exacerbations was 0.08±0.3 per year. CONCLUSION: The administration of MAT therapy led to a statistically significant decrease in the number of exacerbations and stabilization of neurological deficits during the first year of follow-up. After 12 months of therapy, both groups experienced a dramatic decrease in the average annual number of exacerbations, no increase in disability, and positive dynamics according to MRI results. A similar level of OCR efficacy was found in patients who switched from DMT 1 line therapy and NAT.

[Clinical polymorphism of demyelinating diseases associated with MOG-antibodies]. / Klinicheskii polimorfizm demieliniziruyushchikh zabolevanii, assotsiirovannykh s antitelami k MOG.

The authors present three clinical cases of demyelinating diseases associated with MOG-antibodies. In the first case of a young adult male patient, the disease first manifested with stem encephalitis and high titer of plasma MOG-antibodies. In the second case of a male adolescent, the disease proceeded as neuromyelitis optica, aquaporin-4 antibody titer was normal. In the third case, the female child the disease presented with unilateral multifocal encephalitis and focal epileptic seizures. The article emphasizes the relationship of MOG-antibody titers with the severity and prognosis of the disease.

Proton pump inhibitors receiving and prognosis of patients after scheduled percutaneous coronary interventions.

AIM: The urgency of the study is determined by the lack of data necessary in order to assess the safety of prolonged use of proton pump inhibitors (PPI) in patients with IHD combined with anti-aggregant therapy. The aim of the study was to study the relationship between the use of PPI and the risk of thrombotic complications in patients undergoing planned procedures of percutaneous coronary interventions (PCI) and receiving dual antiplatelet therapy. MATERIALS AND METHODS: The study is a prospective register of patients who successfully underwent planned percutaneous coronary intervention (PCI). The effect of PPI (omeprazole and pantoprazole) on the frequency of the combined end point cardiovascular death, ACS, AI, TIA, peripheral arterial thrombosis and PE was assessed using the Log-Rank criterion, as well as in a multivariate analysis (Cox proportional risk regression model). RESULTS: A total of 391 patients were included in the study (23.1% women, mean age 61.2 years ± 10.4 years). The median duration of follow-up was 18 months. During this period of time, 34 adverse events were recorded. Log-Rank analysis showed that the proportion of patients without adverse events in the omeprazole group was significantly lower in comparison with patients who did not receive PPI (0.56 vs. 0.84, Log-Rank p=0.003), and for pantoprazole no such pattern was found (0.89 against 0.84, Log-Rank p=0.21). The average level of residual platelet reactivity (ORT), as well as the number of patients with high ORT (> 208 PRU), did not differ significantly between the groups of omeprazole, pantoprazole and the group of patients not receiving PPI. According to multivariate analysis, omeprazole was an independent predictor of thrombotic complications after a planned PCI (OR 3.75, 95% confidence interval 1.72-8.17, p=----0.0009). CONCLUSION: Long-term use of omeprazole (at least 30 days) is an independent predictor of thrombotic complications in patients who underwent planned PCI.

[Niemann-Pick type C disease in a child]. / Bolezn' Nimanna-Pika tipa S u rebenka.

The authors consider a clinical case of Niemann-Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease. The combination of psychomotor retardation, polymorphic neurological symptoms and physical changes in the form of isolated splenomegaly suggested the diagnosis of Niemann-Pick type C disease. DNA testing was carried out using direct automated sequencing. The patient was treated with miglustat.