Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova最新文献

{"title":"[A perspective on the application of CRISPR/CAS9 genome editing system to study of molecular-genetic basis of mental disorders].","authors":"Yu D Davydova, A V Kazantseva, E K Khusnutdinova","doi":"10.17116/jnevro202412403127","DOIUrl":"10.17116/jnevro202412403127","url":null,"abstract":"<p><p>Schizophrenia, depression, bipolar disorder and autism spectrum disorders are common mental disorders that are among the leading causes of disability worldwide. The major complication to effective therapies for mental disorders is the poor understanding of their pathogenic mechanisms. Currently, an increasing number of research groups are focusing on uncovering the molecular mechanisms of mental disorders and developing novel therapies using the CRISPR/Cas9 (Clustered, Regularly Interspaced, Short Palindromic Repeats (CRISPR) - CRISPR-associated system 9 (Cas9)) system to determine the molecular mechanisms of developing mental disorders and novel therapy. The CRISPR/Cas9 system is the most promising among genome editing tools. Numerous advantages of the CRISPR/Cas9 system and its successful application in some studies provide wide opportunities for genome therapy and regeneration medicine. In this review we shortly describe structure and function of the CRISPR/Cas9 system and its application to study the molecular-genetic basis of mental disorders in human.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 3","pages":"27-33"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289748","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}

{"title":"[Asthenic disorders correction with Recognan].","authors":"O A Shavlovskaya, I A Bokova","doi":"10.17116/jnevro202412403157","DOIUrl":"10.17116/jnevro202412403157","url":null,"abstract":"<p><p>Asthenia, asthenic syndrome, asthenic condition, asthenic reaction, asthenic disorders are terms that describe the state of «impotence». Fatigue that occurs against the background of habitual physical or intellectual stress for a person, and persists after rest, is asthenia. For people of the older age group, the term senile asthenia syndrome is used. Asthenia manifests itself with increased fatigue and exhaustion, mood instability, increased irritability, sleep disorders. Asthenic conditions manifest themselves along with a decrease in physical activity, increased cognitive and mental fatigue. Asthenic syndrome (AS) are considered as an integral part of cardiovascular diseases (CVD), as one of the manifestations of cerebrovascular pathology. Senile asthenia syndrome (SAS) is a geriatric syndrome characterized by an age-associated decrease in the physiological reserve and functions of many body systems, including cognitive functions. One of the drugs that has a positive effect on the severity of AS and improves the state of cognitive functions is the domestic drug Recognan (citicoline). The effectiveness of Recognan in the treatment of AS in patients with CVD, SAS, and post-COVID asthenia has been shown. It is recommended to prescribe Recognan orally at 500 mg / day for 30 days. Recognan has a nootropic and antiasthenic effect.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 3","pages":"57-62"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289750","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}

{"title":"[The relationship between the rs6265 polymorphism of the BDNF gene and the level of serum neurotrophic factor in patients with Parkinson's disease].","authors":"M A Nikitina, E Yu Bragina, M S Nazarenko, L A Levchuk, S A Ivanova, A S Boiko, D E Gomboeva, E S Koroleva, V M Alifirova","doi":"10.17116/jnevro2024124011114","DOIUrl":"10.17116/jnevro2024124011114","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the clinical features and the level of serum brain-derived neurotrophic factor (BDNF) in groups of patients with Parkinson's disease (PD) differentiated by the genotypes of <i>BDNF</i> polymorphism (rs6265).</p><p><strong>Material and methods: </strong>The level of serum BDNF in the biomarkers' multiplex panel of neurodegenerative diseases (HNDG3MAG-36K) was assessed in 134 PD patients. Allele discrimination was carried out by real-time PCR using TaqMan probes for the analysis of <i>BDNF</i> rs6265 polymorphism in groups of patients and controls (<i>n</i>=192) matched for sex, age and ethnicity.</p><p><strong>Results: </strong>Comparing the distribution of rs6265 genotypes and alleles between groups of patients and controls no significant differences were found (<i>p</i>>0.05). Serum BDNF levels varied significantly by genotype (rs6265) among PD patients. Minimum mean serum BDNF level (320.1±164.6 pg/ml) was noted for individuals with the <i>AA</i> genotype, which significantly differs from the corresponding indicator among individuals with <i>GA</i> (2944.2±1590.6 pg/ml; <i>p</i>=0.0001) and <i>GG</i> genotypes (2949.4±1620.6 pg/ml; <i>p</i>=3.9×10^-5). The concentration of BDNF significantly differed between patients with different forms of PD (<i>p</i>=0.0007) and increased as the stage of the disease progressed according to Hoehn and Yahr staging scale (<i>p</i>=1.0×10^-6).</p><p><strong>Conclusion: </strong>The <i>BDNF</i> rs6265 polymorphism was not associated with the development of PD in the studied population. The variability of the mean serum BDNF level was established depending on the genotype of the <i>BDNF</i> polymorphism in PD patients and a number of clinical features.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 1","pages":"114-120"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139522258","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}

{"title":"[Neuroradiological and pathohistological markers of the main epileptogenic substrates in children. Other cerebral disorders].","authors":"M V Polyanskaya, A A Demushkina, I G Vasilyev, F A Kostylev, F A Kurbanova, N N Zavadenko, A A Alikhanov","doi":"10.17116/jnevro202412401116","DOIUrl":"10.17116/jnevro202412401116","url":null,"abstract":"<p><p>High-resolution MRI is an important tool in the diagnosis of structural epilepsy |in determining the seizure initiation zones, identification of the mechanisms of epileptogenesis in predicting outcomes and preventing postoperative complications in patients. In this article we have tried to demonstrate the neuroradiological and pathohistological characteristics of the main epileptogenic substrates in children using modern classification. The second part of the article is devoted to the spectrum of epileptogenic cerebral disorders, in addition to cortical malformations.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 1","pages":"16-23"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139522319","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}

{"title":"[Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene].","authors":"E V Pervushina, M A Kutlubaev, E V Saifullina, E V Gaisina, L A Smakova, I M Khidiyatova","doi":"10.17116/jnevro2024124071165","DOIUrl":"https://doi.org/10.17116/jnevro2024124071165","url":null,"abstract":"<p><p>Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated with the mutation in the <i>ERBB4</i> gene (ALS19) has been reported in 2013. A protein encoded by the <i>ERBB4</i> is probably involved in ubiquitous component of the pathogenesis of ALS. We present a case of ALS associated with a new pathogenic variant of the <i>ERBB4</i> gene, with early bulbar onset and slow progression of the disease within 10 years.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 7","pages":"165-168"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903718","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}

{"title":"[Study of the practice of prescribing phenosanic acid in epilepsy accompanied by asthenic disorders].","authors":"A V Lebedeva, S G Burd, Yu V Rubleva, N V Pantina, A V Yurchenko, M A Bogomazova, I I Kovaleva","doi":"10.17116/jnevro202412407189","DOIUrl":"https://doi.org/10.17116/jnevro202412407189","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the experience of prescribing phenosanic acid in the practice of a neurologist/epileptologist when prescribing the second, third anticonvulsant drug (AED) as part of combination therapy for patients with manifestations of fatigue due to epilepsy.</p><p><strong>Material and methods: </strong>501 patients with focal epilepsy accompanied by asthenic disorders were included in the observational program. The observation program protocol included 5 visits, including visit 1, at which screening and inclusion in the OP took place. The observation period was 10 months. At baseline and at the end of the 10-month follow-up, the patients' condition was assessed according to the following indicators: frequency and transformation of attacks with focal onset, severity of fatigue (self-assessment scale MFI-20); quality of life (questionnaire QoLiE-10-P); frequency of attacks with focal onset. The safety of phenosanic acid (Dibufelon) was also assessed.</p><p><strong>Results: </strong>In 10 months after the inclusion of Dibufelon as the 2nd, 3rd AED in the treatment regimen, a statistically significant (<i>p</i><0.01) decrease in the frequency of seizures was observed: in general - in 88% of patients; by 50% or more - in 76% of patients; transition from the group with a large number of seizures to the group with a smaller number of seizures - 74% of patients. Also when taking phenosanic acid, a positive dynamics of seizure type was noted: a reliable decrease in the proportion of patients with seizures with secondary generalization from 70% to 56%; a decrease in the number of focal seizures with impaired consciousness from 65% to 53%. In addition, there was a 38% decrease in the severity of fatigue on the MFI-20 scale (the greatest decrease on the «Mental fatigue» scale), improvement in the quality of life - a 2.7-fold increase in the mean values of the QOLIE-10 questionnaire.</p><p><strong>Conclusion: </strong>The addition of phenosanic acid to antiepileptic therapy as a second or third AED allows for better control of seizures, leading to a decrease the frequency and severity of attacks and the severity of fatigue both, and an increase of the quality of life of patients with epilepsy.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 7","pages":"89-97"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903736","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}

{"title":"[Glymphatic dysfunction and sleep disorders: indirect effects on Alzheimer's disease].","authors":"S A Kashchenko, A A Eranova, E V Chuguy","doi":"10.17116/jnevro20241240417","DOIUrl":"https://doi.org/10.17116/jnevro20241240417","url":null,"abstract":"<p><p>Modern research raises the question of the potentially significant role of glymphatic dysfunction in the development of neurodegeneration and pathological aging. The exact molecular mechanisms are not yet fully understood, but there is ample evidence of a link between sleep deprivation and decreased clearance of β-amyloid and other neurotoxin proteins that are associated with the development of neurodegenerative diseases, particularly Alzheimer's disease. The review analyzes current scientific information in this area of research, describes the latest scientific discoveries of the features of the glymphatic system, and also illustrates studies of markers that presumably indicate a deterioration in the glymphatic system. The relationship between sleep deprivation and pathophysiological mechanisms associated with neurodegenerative diseases is considered, and potential targets that can be used to treat or delay the development of these disorders are noted.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 4","pages":"7-12"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856051","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}

{"title":"[Traumatic brain injury as risk factor of Alzheimer's disease and possibilities of pathogenetic therapy].","authors":"I V Litvinenko, K M Naumov, V Yu Lobzin, A Yu Emelin, P S Dynin, K A Kolmakova, V O Nikishin","doi":"10.17116/jnevro202412401145","DOIUrl":"10.17116/jnevro202412401145","url":null,"abstract":"<p><p>The article examines the potential role of brain mechanical damage as a trigger for the development of neurodegenerative changes. Attention is paid to dysfunction of the neurovascular unit, and disruption of the functional and compensatory capabilities of blood flow. The importance of microhemorrhages that occur in the acute period of injury and the formation of first focal and then diffuse neuroinflammation is emphasized. The importance of mitochondrial dysfunction was separately determined as a significant factor in increasing the risk of developing Alzheimer's disease (AD) in patients after traumatic brain injury (TBI). In TBI, there is a decrease in the expression of tight junction (TC) proteins of endothelial cells, such as occludin, claudin, JP, which leads to increased permeability of the blood-brain barrier. TBI, provoking endothelial dysfunction, contributes to the development of metabolic disorders of β-amyloid and tau protein, which in turn leads to worsening vascular damage, resulting in a vicious circle that can ultimately lead to the development of AD and dementia. Age-related changes in cerebral arteries, which impair perivascular transport of interstitial fluid, are currently considered as an important part of the «amyloid cascade», especially against the background of genetically mediated disorders of glial membranes associated with defective aquaporin-4 (encoded by the <i>APOE4</i>). Studies in animal models of TBI have revealed an increase in tau protein immunoreactivity and its phosphorylation, which correlates with the severity of injury. A comprehensive analysis of research results shows that the cascade of reactions triggered by TBI includes all the main elements of the pathogenesis of AD: disorders of energy metabolism, microcirculation and clearance of cerebral metabolic products. This leads to a disruption in the metabolism of amyloid protein and its accumulation in brain tissue with the subsequent development of tauopathy. Cerebrolysin, by modulating the permeability of the blood-brain barrier, blocks the development of neuroinflammation, reduces the accumulation of pathological forms of proteins and may be slow down the progression of neurodegeneration.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 1","pages":"45-54"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139522262","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}

{"title":"[Patients with long-term survival in malignant gliomas after photodynamic therapy].","authors":"A Yu Rynda, V E Olyushin, D M Rostovtsev, K K Kukanov, S S Sklyar, Yu M Zabrodskaya","doi":"10.17116/jnevro202412406154","DOIUrl":"https://doi.org/10.17116/jnevro202412406154","url":null,"abstract":"<p><strong>Objective: </strong>Analysis of long-lived patients from the group of patients with glioblastomas after using photodynamic therapy in the structure of their complex treatment in order to assess the influence of various factors on their life expectancy.</p><p><strong>Material and methods: </strong>In total, a single-center, retrospective categorical study analyzed the long-term results of treatment of 63 patients with glioblastoma in the structure of complex treatment including photodynamic therapy. Clinical factors (age, sex, number of cases, preoperative Karnofsky index, location and size of the tumor, radicality of the operation), histological (nuclear polymorphism, mitosis, vascular proliferation, necrosis), immunohistochemical (Ki-67, p53 index) molecular-genetic factors (expression of <i>VEGF, MGMT, IDH, CD34</i>), amount of radiation and chemotherapy were analyzed.</p><p><strong>Results: </strong>In the entire group of patients, there was a direct correlation of life expectancy with <i>MGMT</i> status, <i>IDH</i> status, the number of courses of chemotherapy, the age of the patient, and the severity of the first surgical intervention.</p><p><strong>Conclusion: </strong>Clinical features such as age at diagnosis and extent of surgical resection and amount of chemotherapy have predictive value in assessing their effect on life expectancy. Mutations in <i>IDH</i> and <i>MGMT</i> promoter methylation were the most important molecular factors determining long-term patient survival.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 6","pages":"54-61"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790120","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}

{"title":"[The role of astrocytes, circadian rhythms and light pollution in the pathogenesis of Alzheimer's disease].","authors":"A V Gorbachevskii, O A Kicherova, L I Reikhert","doi":"10.17116/jnevro202412406120","DOIUrl":"https://doi.org/10.17116/jnevro202412406120","url":null,"abstract":"<p><p>Currently, more and more importance is being attached to the interaction of brain neurons with astrocytes in order to study the pathogenesis, and in the future, to develop methods for the prevention, early diagnosis and treatment of neurodegenerative diseases of the brain. In this review article, the authors attempt to demonstrate the role of astrocytes, disturbances in circadian rhythms, sleep-wake patterns, and light pollution in the development of Alzheimer's disease. Based on the analysis of literature data, possible mechanisms of synchronization and desynchronization of these processes are presented.</p>","PeriodicalId":56370,"journal":{"name":"Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova","volume":"124 6","pages":"20-25"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790126","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}