Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova最新文献

[A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro2025125011139

D G Korotkova, M I Karpova, K Yu Galiulina, A F Vasilenko, M V Shestakova, T N Kashko, G V Buyanova

{"title":"[A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation].","authors":"D G Korotkova, M I Karpova, K Yu Galiulina, A F Vasilenko, M V Shestakova, T N Kashko, G V Buyanova","doi":"10.17116/jnevro2025125011139","DOIUrl":"https://doi.org/10.17116/jnevro2025125011139","url":null,"abstract":"The article presents a rare case of Becker muscular dystrophy symptoms development in a female patient manifested by weakness in the muscles of the lower limbs in youth. The diagnosis was established based on clinical symptoms, molecular-genetic testing, electromyography data, magnetic resonance imaging of the lower limb muscles, and blood creatine phosphokinase activity. DNA analysis using the next-generation sequencing «Large neurological panel» (Genomed laboratory, Moscow) yielded data supporting the presence of a deletion of the X chromosome segment with approximate boundaries 31323344-32809866 and a size of 1.486.522 bp, encompassing regions of the OMIM-annotated DMD gene. Multiplex ligation-dependent probe amplification (MLPA) using commercial kits SALSA MLPA Probemix P034-DMDI and P035-DMD2 (MRC-Holland) was performed to search for deletions/duplications of exons 1-79 of the DMD gene. As a result of the analysis, a deletion of exons 7-62 of the DMD gene in a heterozygous state was identified. Thus, the presence of the deletion was confirmed by the reference method. DNA analysis was conducted to detect skewed X-chromosome inactivation. The results show an 87%:13% ratio, indicating skewed (non-random) X-chromosome inactivation (repeats count 24/26).","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"125 1","pages":"139-144"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Autoimmune diseases of central nervous system and respiratory viral infections in children].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro202512501139

N V Skripchenko, G F Zheleznikova, L A Alekseeva, T V Bessonova, P S Verbenko, E Yu Skripchenko

引用次数: 0

[Development of a diagnostic and treatment algorithm for anxiety associated with somatic pathology in patients in general clinical practice. Resolution of the expert council].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro202512501162

M A Samushiya, A S Al-Shukri, I I Baranov, E V Ekusheva, M A Livzan, N M Nenasheva, G R Tabeeva, O B Tamrazova, A V Tarasov, A A Chernova

引用次数: 0

[Hormonal contraception methods and multiple sclerosis].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro202512501124

N Y Lashch, A A Ashikhmina, M I Kislaya, L A Filatova

引用次数: 0

[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro2025125011131

D V I, S A Seregin, T N Proskokova

引用次数: 0

[Nutritional care for patients with neurodegenerative diseases in the outpatient practice of a neurologist].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro202512501176

E V Guzanova, T A Sorokina, A V Zorkova

引用次数: 0

[New pathogenic treatments for myasthenia gravis].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro202512501131

T M Alekseeva, P S Isabekova, E I Kondratova, L U Abdulina

{"title":"[New pathogenic treatments for myasthenia gravis].","authors":"T M Alekseeva, P S Isabekova, E I Kondratova, L U Abdulina","doi":"10.17116/jnevro202512501131","DOIUrl":"https://doi.org/10.17116/jnevro202512501131","url":null,"abstract":"Myasthenia gravis (MG) is an autoimmune disease caused by the production of specific autoantibodies to various components of the neuromuscular synapse, leading to muscle weakness and disabling fatigue. Treatment of MG aims to stop the symptoms and inhibit the triggers of the autoimmune process. For a long time, MG treatment included anticholinesterase agents and nonspecific immunosuppressive and immunomodulatory therapies used alone or in combinations: glucocorticosteroids, cytostatics, plasmapheresis, and intravenous immunoglobulin. Despite the fact that the above drugs are widely used in the treatment of MG, they can cause unacceptable side effects with long-term use and also are not consistent in induction of remission. The search for new effective and safe therapies for MG, especially refractory types that do not respond to standard therapy, is an urgent task. Due to advances in biotechnology and the emergence of new types of drugs, monoclonal antibodies or fusion proteins, targeted MG immunotherapy has been developed for specific pathogenetic targets. The presented review describes targeted MG therapies that are already approved In Russia and other countries, as well as those at different stages of development. Most targeted agents have some advantages over traditional immunosuppressive therapy: rapid onset of action, long-term remission, and minimal side effects. Currently, eculizumab and ravulizumab are approved In Russia.","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"125 1","pages":"31-38"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[The experience of diagnosing Alzheimer's disease based on the study of cerebrospinal fluid biomarkers].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro202512501191

K V Nevzorova, Y A Shpilyukova, E Yu Fedotova, A G Burmak, A A Shabalina, S N Illarioshkin

{"title":"[The experience of diagnosing Alzheimer's disease based on the study of cerebrospinal fluid biomarkers].","authors":"K V Nevzorova, Y A Shpilyukova, E Yu Fedotova, A G Burmak, A A Shabalina, S N Illarioshkin","doi":"10.17116/jnevro202512501191","DOIUrl":"https://doi.org/10.17116/jnevro202512501191","url":null,"abstract":"Objective: To evaluate the frequency of Alzheimer's disease (AD) confirmed by cerebrospinal fluid (CSF) biomarkers in a cohort of patients with classical (amnesic) and atypical phenotypes of this disease.Material and methods: The study included 63 patients (24 men and 39 women; median age 65 years [60; 71]). All patients were divided into 3 groups according to the phenotype: a classic amnesic phenotype (n=32), frequent non-amnesic phenotypes (n=21) and rare non-amnesic phenotypes (n=10). All patients underwent lumbar puncture followed by the CSF biomarkers evaluation (beta-amyloid 1-42 (Aβ1-42) and phosphorylated tau protein 181 (p-tau181)) to confirm the AD pathology. The clinical characteristics of each subgroup were studied.Results: A decreased level of CSF Aβ1-42 in combination with an increased level of p-tau181 was found in 36 patients (57.1%). A change in at least one biomarker was detected in 54 patients (85.7%). The highest frequency of the Alzheimer's type pathology was found in the group with predominant amnestic phenotype (87.5%), as well as in the subgroups with logopenic variant of primary progressive aphasia (lvPPA) (100%) and with posterior cortical atrophy (PCA) (100%). In the group with rare phenotypes, the frequency of AD CSF changes characteristic of AD was 50% for patients with predominant behavioral disorders and 66.7% for corticobasal syndrome.Conclusion: The high frequency of AD CSF biomarkers in both the classical (amnesic) and atypical phenotypes is shown. This indicates the need to expand the use of AD CSF biomarkers for a more reliable assessment of the prevalence of AD In Russia.","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"125 1","pages":"91-97"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Josef Hyrtl on the etymology of the term «thalamus»].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro2025125011128

S A Kutia, N G Nikolaeva, A V Myazina

引用次数: 0

[Non-invasive biomarkers for early diagnosis of Alzheimer's disease in bodily fluids].

Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova Pub Date : 2025-01-01 DOI: 10.17116/jnevro20251250118

E A Kovalenko, E V Makhnovich, A V Pervunina, E A Gileva, A N Bogolepova

引用次数: 0