[A case report of anti-NMDA receptor encephalitis with mental disturbances manifestation]. / Klinicheskoe nablyudenie anti-NMDA-retseptornogo entsefalita, protekayushchego s psikhicheskimi narusheniyami.

Presented clinical observation of anti-NMDA-receptor encephalitis, which was first described in 2007, is rare and to date has not been sufficiently studied. The disease often manifests with psychopathological symptoms and catatonia, so patients are transferred into a mental healthcare institution and often require intensive care and resuscitation, due to the development of life-threatening respiratory and hemodynamic disorders. Diagnosis is based on detection of autoantibodies to the NR1- and NR2 subunits of the glutamate NMDA receptor in blood serum and cerebrospinal fluid. Pathogenesis-based therapy includes the administration of glucocorticoids and intravenous immunoglobulins, plasmapheresis, as well as the introduction of monoclonal antibodies in also used, and in severe cases, cytostatics are prescribed. The widespread comorbidity of anti-NMDA receptor encephalitis with ovarian neoplasms in women (up to 60%) requires appropriate diagnosis and early removal of ovarian neoplasms when they are detected. With timely diagnosis and adequate treatment strategies, the outcome of this rare disorder is usually positive.

[New opportunities in the treatment of patients with multiple sclerosis (Resolution of the Council of Experts on April 23, 2022, Moscow, JSC «BIOCAD¼)]. / Novye vozmozhnosti v terapii patsientov s rasseyannym sklerozom¼ (Rezolyutsiya soveta ekspertov 23 aprelya 2022 goda, Moskva, AO «BIOKAD¼).

One of the target areas for the development of the Russian pharmaceutical industry at present is the development of next-in-class drugs medicines. These are original, patent-protected drugs that act on known biological targets, improved or modified in structure and mechanism of action compared to existing, successfully proven medicine. The article presents the results of an expert council on the management of patients with multiple sclerosis and the place of new original medicines of the JSC BIOCAD company (SamPEG-IFN-ß1a and divozilimab) in multiple sclerosis therapy algorithm.

[Application of modern approaches in the screening and early diagnosis programs for the orphan diseases]. / Primenenie sovremennykh tekhnologii v programmakh rannei diagnostiki orfannykh boleznei v Rossii i za rubezhom.

Orphan diseases have a prevalence ranging one patient per 10.000 population in the Russian Federation to one per 1500-2000 individuals in Australia and the USA. Many orphan diseases lead to a severe decrease in quality of life and high mortality. In this article, we discuss the problem of early diagnosis in orphan diseases in the Russian Federation, which has lagged behind global trends towards improved recognition and treatment of orphan diseases. We identify the need for improved focus at the level of national healthcare, while discussing relevant issues arising from the international experience. We review national and regional health programs and healthcare practices of Australia, Germany, Denmark, China, Norway, Slovenia, UK, and the United States, with a focus on screening and diagnosis of orphan disease. We also present a review on the state of affairs in the Russian Federation. Orphan diseases are amenable to current molecular-genetic and other diagnostic technologies, including targeted, whole exome and whole genome sequencing (targeted NGS, WES, WGS) using next generation sequencing technologies (next generation sequencing, NGS) and tandem mass spectrometry (TMS, MS/MS). We conclude with a call for major measures aimed at improving the diagnosis of orphan diseases, in particular through the expansion of the neonatal screening program, the creation of a network of orphan disease referral centers, and centralized management of patients registers.

[The organization of diet therapy from positions of development of patient-oriented health care].

The article discusses the problematic issues of the organization of medical nutrition of sick people both in medical organizations and outside of their stay, reflecting the current understanding of the organization of therapeutic nutrition as the main structural element of the patient-oriented health care system. The authors declare the need for an evidence-based assessment of the effectiveness of personalized diet therapy and the use of specialized enrichment of patients 'diet. The article presents the rationale for the correctness of using for this purpose a proven methodology for assessing the effectiveness of alternative technologies in healthcare. The integral efficiency indicator used in this methodology includes the calculation of the social satisfaction coefficient, which is proposed to be used by one of the levers of control from public organizations of patients, and above all their flagship All-Russian Union of Patients.

[Spinal muscular atrophy in samara region. Epidemiology, classification, prospects for health care]. / Spinal'nye myshechnye atrofii v Samarskoi oblasti: épidemiologiia, klassifikatsiia, perspektivy okazaniia meditsinskoi pomoshchi.

The paper addresses the problem of spinal muscular atrophy in Russia, in particular in Samara region. There are 58 alive patients, including 19 children, registered to June 2019 in the Samara Regional Clinical Hospital n.a. V.D. Seredavin. The authors discuss the classification and etiopathogenesis of spinal muscular atrophy, prospects for its pathogenetic therapy and prevention in Russia.

[Primary-progressive multiple sclerosis in Russia: a medical-sociological study involving patients and neurologists]. / Pervichno-progressiruiushchii rasseiannyi skleroz v Rossii: mediko-sotsiologicheskoe issledovanie s uchastiem patsientov i nevrologov.

The main results of a medical-sociological study aimed at the evaluation of the level of satisfaction with treatment in patients with primary progressive multiple sclerosis (PPMS) are presented. The survey was conducted in 19 regions of the Russian Federation and involved 437 patients with confirmed diagnosis of PPMS and 80 neurologists specialized in multiple sclerosis. The research was carried out by the All-Russian Public Organization of Disabled People with Multiple Sclerosis with the participation of the Russian Committee for Treatment and Research in Multiple Sclerosis. This is the first medical-sociological study in the Russian Federation involving patients with PPMS and neurologists. The study revealed typical medical and social problems patients with PPMS faced. A significant decrease in quality-of-life of PPMS patients was shown.

[Provision of alemtuzumab safety is one of the main components of pharmacovigilance]. / Obespechenie bezopasnosti terapii alemtuzumabom - odna iz glavnykh sostavliaiushchikh farmakonadzora.

Modern multiple sclerosis therapy with disease-modifying drugs is characterized by the risks of dangerous infectious complications. In the last 5 years, there have been several reports of severe, sometimes lethal, listeriosis infection in patients treated with alemtuzumab. This article presents a clinical case of lethal listeriosis meningoencephalitis, which developed within 7 days after the completion of the first cycle of alemtuzumab therapy. In January 2018, a meeting of the expert Council was held, at which the clinical recommendations published in 2017 were revised and updated.

[Clinical guidelines for the use of dimethyl fumarate in relapsing-remitting multiple sclerosis]. / Klinicheskie rekomendatsii po primeneniiu preparata dimetilfumarat pri remittiruiushche-retsidiviruiushchem rasseiannom skleroze.

Multiple sclerosis is a chronic demyelinating and neurodegenerative disease of the central nervous system, in which autoimmune inflammation and oxidative stress play essential pathogenetic roles. Activation and infiltration of immune cells in brain tissues, lipid peroxidation products, mitochondrial dysfunction, defective antioxidant protection, and many other pathological factors result in demyelination, axonal injury and death, and apoptosis of oligodendrocytes and neurons, all of which causes constant progression of the disease. The new oral agent for the treatment of relapsing-remitting multiple sclerosis (RRMS), dimethyl fumarate (DMF), helps change the pathogenetic mechanisms of the disease, thus decreasing the rate of exacerbations, slowing down disease progression, and reducing the risk of radiological progression of the disease.

[Substantiation of increasing the quality of disease-modifying therapy for multiple sclerosis using in the Russian Federation]. / Obosnovanie neobkhodimosti povysheniia kachestva primeniaemykh v Rossiiskoi Federatsii preparatov, izmeniaiushchikh techenie rasseiannogo skleroza (PITRS).

The problems of using disease-modifying drugs in treatment of multiple sclerosis related to the difficulties of the control over the quality of bioanalogues imported into or manufactured in the Russian Federation are discussed.

[The early diagnosis of neurodegenerative changes in multiple sclerosis and clinically isolated syndrome based on optical coherence tomography of the retina]. / Ranniaia diagnostika neirodegenerativnykh izmenenii pri rasseiannom skleroze na osnove programmy diagnostiki setchatki.

AIM: To study signs of neurodegeneration in the retina in multiple sclerosis. MATERIAL AND METHODS: We studied the retinal nerve fiber layer (RNFL) in 265 (524 eyes) patients. RESULTS AND CONCLUSION: We identified a reliable thinning of RNFL of both eyes in patients with relapsing-remitting multiple sclerosis (MS). A comparative analysis by sectors revealed a specific decrease in RNFL in temporal segments and papillomacular beam. Mean values of RNFL in patients with clinically isolated syndrome did not differ from those in controls. Thickening of RNFL of low segments (NI и TI) and decrease in the thickness of the upper temporal segment (TS) were found. The results have demonstrated that neurodegenerative signs in the retina may be early appearances of MS. Optical coherence tomography allows to perform objective and rapid screening of retinal neurodegenerative changes.