Consensus opinion on the management of patients with neuromyelitis optica spectrum diseases: issues of terminology and therapy

Multiple sclerosis (MS) is a chronic autoimmune inflammatory demyelinating and neurodegenerative disease of the central nervous system. Now 2.8 million people in the world suffer from MS, since 2000 every 5 years there has been an increase in the number of MS patients by 10%. At the same time, the number of cases with highly active MS (HAMS) is increasing, i.e. cases of MS with two or more exacerbations without taking specific pathogenetic therapy or one exacerbation during taking MS disease-modifying therapies (DMTsMS), which is accompanied by the corresponding MRI data of the brain and spinal cord (presence of new or active lesions). Previously, there were no studies of quality of life (QoL) in this subgroup of patients in the world.Objective: to compare the QoL indicators of patients with HAMS with those of healthy people and patients with a typical course of relapsingremitting MS (RRMS).Patients and methods. The study included data on 518 patients from 14 regions of the Russian Federation for 2020–2021 years, in whom HAMS was confirmed during a second examination. We used the results of the analysis of clinical data from neurologists and data from questionnaires filled out by patients with HAMS. Two questionnaires were used in the work – the general (non-specific) Questionnaire for assessing the QoL, SF-36 (The MOS 36-item Short-Form Health Survey) and a special questionnaire for MS patients – MusiQoL (Multiple sclerosis Quality of Life).Results and discussion. Almost all indicators of QoL in HAMS were below the control. When compared with the typical course of RRMS, a more pronounced decrease in daily activity indicators, a significant impact of clinical symptoms on QoL, a negative attitude of patients towards the healthcare system, and a low overall health index were noted. Pearson correlation analysis revealed a stronger effect on QoL parameters of the frequency of exacerbations in HAMS than in RRMS.Conclusion. The data obtained in the study indicate the need for more active management of patients with HAMS using second-line DMTsMS.

Multiple sclerosis (MS) is one of the most common causes of disability in young people of working age. The prevalence of this disease has increased significantly in recent years and today amounts to more than 2 900 000 people worldwide. The transition from relapsing-remitting MS to secondary progressive MS is observed in 25 % of cases within 10 years the disease duration, and with further time the proportion of patients with secondary progressive MS increases. Despite the importance of preventing patient disability, today the diagnosis of secondary progressive MS is established retrospectively, which makes the issue of identifying early markers of disease progression extremely relevant. The most promising diagnostic markers allow the differentiation of progressive MS with a sensitivity of up to 87 % and a specificity of up to 90 %. This review will consider the most promising clinical, instrumental and biological signs of early progression of MS.

ЦЕЛЬ ИССЛЕДОВАНИЯ Оценить валидность и воспроизводимость русскоязычной версии шкалы EDSS — расширенной шкалы статуса инвалидизации (РШСИ) — в сравнении с оригинальной бумажной формой EDSS на английском языке. МАТЕРИАЛ И МЕТОДЫ Исследование проведено в 6 центрах Российской Федерации и одобрено Этическим комитетом. Участие приняли 60 взрослых пациентов согласно критериям включения. В ходе двух визитов все пациенты осмотрены 2 рейтерами. Оценка неврологического статуса 30 пациентов осуществлялась с использованием EDSS и 30 — с использованием РШСИ. Оценивалось время, затрачиваемое рейтерами на заполнение бумажных форм для каждой шкалы. Использована версия шкалы, переведенная на русский язык 2 переводчиками независимо друг от друга с последующим обратным переводом на английский язык. РЕЗУЛЬТАТЫ Шкалы РШСИ и EDSS обладают сопоставимыми показателями внутриэкспертной и межэкспертной надежности и внутренней согласованности. Обе шкалы показали высокую внутриэкспертную надежность как для функциональных шкал, так и для итоговой оценки в баллах (ICC=0,962 [95% ДИ: 0,937; 0,977] и 0,997 [95% ДИ: 0,994; 0,998] для шкал EDSS и РШСИ соответственно). Межэкспертная надежность в рамках одного визита была выше для РШСИ и оценена как высокая (ICC >0,9) для итоговой оценки в баллах и для отдельных функциональных систем. Внутренняя согласованность шкал оценена как достаточная (альфа Кронбаха=0,78 [95% ДИ: 0,72; 0,82] и 0,74 [95% ДИ: 0,68; 0,79] для шкал EDSS и РШСИ соответственно). Статистически значимая разница времени заполнения шкал EDSS и РШСИ не выявлена: Me (Q25—Q75) 181 (159,5—204,5) с для EDSS; 200 (167—289) с для РШСИ (p=0,6282). ЗАКЛЮЧЕНИЕ РШСИ является надежным и валидным эквивалентом шкалы EDSS и может быть использована в рутинной клинической практике и клинических исследованиях.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare chronic central-nervous-system inflammatory disorder that became known only recently, and the pathogenesis of CLIPPERS remains poorly understood. This report presents clinical and radiological features of a rare case: a young female patient who rapidly died of suspected CLIPPERS. Helpful multiparametric MRI diagnostic criteria are proposed that can help discriminate CLIPPERS from non-CLIPPERS pathologies. We reviewed clinical history, symptoms, quantitative data from brain multiparametric MRI before and after treatment, and histopathological data. Perfusion-weighted imaging revealed a decrease in regional cerebral blood flow by 31% and in cerebral blood volume by 64%, with a moderate increase in transit time and in time to peak by up to 23% in affected pontine and cerebral white matter. As estimated by diffusion tensor imaging, there was elevated density of tracts (n/mm²) and a decrease of fraction anisotropy (×10^-3 mm/s²) in the patient's pons as compared to a healthy control: density of tracts = 13.5 vs 12.4 and fraction anisotropy = 0.32 vs 0.45, respectively. Macromolecular proton fraction values proved to be reduced (15.8% and 14.5% in the control, respectively) in the patient's cerebral peduncles by 3% and in the pons by 4.1% and in a periventricular white matter lesion by 6.4% (11.3% in the normal-looking contralateral hemisphere). Based on our findings, we argue that quantitative MRI techniques may be a valuable source of biomarkers and reliable diagnostic criteria and can shed light on the pathogenesis and exact nosological position of this disorder.

Accurately predicting the progression of clinically isolated syndrome (CIS) to multiple sclerosis (MS) is crucial for early intervention and management. This study employs a range of machine learning models, including categorical boosting, extreme gradient boosting, light gradient boosting machine, random forest, support vector machine, and logistic regression, to classify CIS patients based on their likelihood of developing MS. Our best model achieves and demonstrates superior predictive accuracy of 0.9312, measured using the area under the curve metric. In addition, we apply explainability techniques to determine the most influential features driving the predictions, identifying which CISs are most indicative of MS progression. Furthermore, we explore feature interactions to detect relationships between features, providing a deeper understanding of the underlying mechanisms. The study utilizes public data from 273 CISs patients, offering significant contributions to the clinical management and early diagnosis of MS.