Pub Date : 2023-11-25DOI: 10.30629/2658-7947-2023-28-5-28-34
M. Maksimova, Y. Kotlyar, A. A. Shabalina
Introduction. In recent years, progress in understanding the genetic mechanisms underlying susceptibility to degenerative spinal pathology has been achieved due to advances in molecular genetics.Objective: conduct a comparative analysis of the genotypes and alleles frequencies of type I collagen genes (COL1A1 C-1997A (rs110946) A > C, COL1A1 G-1245T (rs1800012) G > T) and vitamin D receptor (VDR: 283 (Bsml) A > G) in young patients with chronic musculoskeletal back pain.Material and methods. The main group consisted of 70 patients (39 women and 31 men, average age 40 [38; 43] years) with chronic (more than 3 months) musculoskeletal back pain. The control group consisted of 16 healthy individuals (8 women and 8 men, average age 35 [31; 40] years). Determination of the VDR: 238 (Bsml) gene polymorphism was carried out in real time by the polymerase chain reaction (PCR) method on a DT-light amplifier (DNA-Technology, Russia) using reagent kits “Genetics of calcium metabolism” (DNA-Technology, Russia). Determination of collagen gene polymorphisms was carried out by PCR on a Real-time CFX96 Touch amplifier (Bio-Rad Laboratories, USA) using reagent kits produced by Synthol (Russia). Statistical analysis of the obtained data was performed using the SPSS Statistics 19 software package. An allele frequency was calculated by using the formula f = n/2N, the genotypes frequency — by using the formula f = n/N (where N is the sample size, n is the prevalence of variants). The statistical significance of allele and genotype frequencies was assessed using the ꭓ2 criterion. We calculated the odds ratio (OR) to assess the relative risk and its 95% confidence interval (CI): OR = DE/HE/DNE/HNE, where DE and HE are the number of patients in the main and control groups with the risk factor, DNE and HNE — the number of patients without a risk factor.Results. Patients with chronic musculoskeletal back pain differed from the healthy individuals in a higher incidence of fl at feet (p = 0.022), spinal scoliosis (p = 0.005), increased fragility of the nail plate (р = 0.000) and myopia (p = 0.25). It has been established that chronic musculoskeletal back pain in young patients is genetically related to the A allele of the vitamin D receptor gene (VDR: 283 (Bsml)) (χ2 = 6.779; p = 0.020; OR = 4.308; 95% CI [1.363; 13.616]).Conclusions. The presence of the A allele of the vitamin D receptor gene (VDR: 283 (Bsml)) in young patients is associated with a genetically determined higher susceptibility to the development of musculoskeletal back pain.
导言。近年来，由于分子遗传学的进步，人们在了解脊柱退行性病变易感性的遗传机制方面取得了进展。目的：对慢性肌肉骨骼背痛年轻患者的 I 型胶原蛋白基因（COL1A1 C-1997A (rs110946) A > C、COL1A1 G-1245T (rs1800012) G > T）和维生素 D 受体（VDR：283 (Bsml) A > G）的基因型和等位基因频率进行比较分析。主要研究组由 70 名慢性（超过 3 个月）肌肉骨骼背痛患者（39 名女性和 31 名男性，平均年龄 40 [38; 43] 岁）组成。对照组包括 16 名健康人（8 名女性和 8 名男性，平均年龄 35 [31; 40] 岁）。VDR: 238 (Bsml)基因多态性的测定是通过聚合酶链式反应（PCR）方法在 DT light 放大器（DNA-Technology，俄罗斯）上使用 "钙代谢遗传学 "试剂盒（DNA-Technology，俄罗斯）实时进行的。胶原蛋白基因多态性的测定是在实时 CFX96 Touch 放大器（美国 Bio-Rad 实验室）上使用 Synthol（俄罗斯）公司生产的试剂盒通过 PCR 法进行的。使用 SPSS Statistics 19 软件包对获得的数据进行统计分析。等位基因频率的计算公式为 f = n/2N，基因型频率的计算公式为 f = n/N（其中 N 为样本量，n 为变异的流行率）。等位基因和基因型频率的统计学意义采用ꭓ2标准进行评估。我们计算了几率比（OR）来评估相对风险及其 95% 的置信区间（CI）：OR=DE/HE/DNE/HNE，其中 DE 和 HE 为主要组和对照组中存在危险因素的患者人数，DNE 和 HNE 为不存在危险因素的患者人数。慢性肌肉骨骼背痛患者与健康人的不同之处在于，他们的足部扁平（p = 0.022）、脊柱侧弯（p = 0.005）、甲板脆性增加（р = 0.000）和近视（p = 0.25）的发生率更高。已证实年轻患者的慢性肌肉骨骼背痛与维生素 D 受体基因（VDR：283 (Bsml)）的 A 等位基因有关（χ2 = 6.779; p = 0.020; OR = 4.308; 95% CI [1.363; 13.616]）。年轻患者体内维生素 D 受体基因 (VDR: 283 (Bsml))的 A 等位基因与由基因决定的肌肉骨骼背痛的高易感性有关。
{"title":"Genetic risk factors of chronic musculoskeletal back pain in young people","authors":"M. Maksimova, Y. Kotlyar, A. A. Shabalina","doi":"10.30629/2658-7947-2023-28-5-28-34","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-5-28-34","url":null,"abstract":"Introduction. In recent years, progress in understanding the genetic mechanisms underlying susceptibility to degenerative spinal pathology has been achieved due to advances in molecular genetics.Objective: conduct a comparative analysis of the genotypes and alleles frequencies of type I collagen genes (COL1A1 C-1997A (rs110946) A > C, COL1A1 G-1245T (rs1800012) G > T) and vitamin D receptor (VDR: 283 (Bsml) A > G) in young patients with chronic musculoskeletal back pain.Material and methods. The main group consisted of 70 patients (39 women and 31 men, average age 40 [38; 43] years) with chronic (more than 3 months) musculoskeletal back pain. The control group consisted of 16 healthy individuals (8 women and 8 men, average age 35 [31; 40] years). Determination of the VDR: 238 (Bsml) gene polymorphism was carried out in real time by the polymerase chain reaction (PCR) method on a DT-light amplifier (DNA-Technology, Russia) using reagent kits “Genetics of calcium metabolism” (DNA-Technology, Russia). Determination of collagen gene polymorphisms was carried out by PCR on a Real-time CFX96 Touch amplifier (Bio-Rad Laboratories, USA) using reagent kits produced by Synthol (Russia). Statistical analysis of the obtained data was performed using the SPSS Statistics 19 software package. An allele frequency was calculated by using the formula f = n/2N, the genotypes frequency — by using the formula f = n/N (where N is the sample size, n is the prevalence of variants). The statistical significance of allele and genotype frequencies was assessed using the ꭓ2 criterion. We calculated the odds ratio (OR) to assess the relative risk and its 95% confidence interval (CI): OR = DE/HE/DNE/HNE, where DE and HE are the number of patients in the main and control groups with the risk factor, DNE and HNE — the number of patients without a risk factor.Results. Patients with chronic musculoskeletal back pain differed from the healthy individuals in a higher incidence of fl at feet (p = 0.022), spinal scoliosis (p = 0.005), increased fragility of the nail plate (р = 0.000) and myopia (p = 0.25). It has been established that chronic musculoskeletal back pain in young patients is genetically related to the A allele of the vitamin D receptor gene (VDR: 283 (Bsml)) (χ2 = 6.779; p = 0.020; OR = 4.308; 95% CI [1.363; 13.616]).Conclusions. The presence of the A allele of the vitamin D receptor gene (VDR: 283 (Bsml)) in young patients is associated with a genetically determined higher susceptibility to the development of musculoskeletal back pain.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"77 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139236812","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}
Pub Date : 2023-11-25DOI: 10.30629/2658-7947-2023-28-5-21-27
P. Kuznetsova, A. Raskurazhev, S. Morozova, I. M. Lovchev, M. Novruzbekov, M. Tanashyan
Hepatic encephalopathy in the initial stages is a diagnostically challenging clinical phenomenon, based on the accumulation of ammonia. Symptoms of encephalopathy are extremely varied: from a slight cognitive decrease and minimal affective disorders to disorders of consciousness and coma in the terminal stages. However, the severity of liver pathology and neurophysiological and neuroimaging data do not always correlate with the severity of encephalopathy. The greatest difficulties in diagnosis arise at the initial stage of the disease, and a timely recognized and established diagnosis can not only slow down the progression of cognitive deficits and characterological changes, but also significantly improve the patient’s prognosis.
{"title":"Minimal hepatic encephalopathy: clinical, neurophysiological, neuroimaging markers","authors":"P. Kuznetsova, A. Raskurazhev, S. Morozova, I. M. Lovchev, M. Novruzbekov, M. Tanashyan","doi":"10.30629/2658-7947-2023-28-5-21-27","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-5-21-27","url":null,"abstract":"Hepatic encephalopathy in the initial stages is a diagnostically challenging clinical phenomenon, based on the accumulation of ammonia. Symptoms of encephalopathy are extremely varied: from a slight cognitive decrease and minimal affective disorders to disorders of consciousness and coma in the terminal stages. However, the severity of liver pathology and neurophysiological and neuroimaging data do not always correlate with the severity of encephalopathy. The greatest difficulties in diagnosis arise at the initial stage of the disease, and a timely recognized and established diagnosis can not only slow down the progression of cognitive deficits and characterological changes, but also significantly improve the patient’s prognosis.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"353 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139238271","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}
Pub Date : 2023-11-25DOI: 10.30629/2658-7947-2023-28-5-40-51
S. Petrikov, N. Shamalov, L. B. Zavaliy, I. Tyrov, A. N. Koriagin, A. G. Fomkin, D. V. Kuular, T. A. Nikulina, E. V. Andriyanova
The diversity and inconsistency of the proposed tactics for diagnosing and treating patients with facial nerve neuropathy (FNN) can cause difficulties for neurologists in their daily routine work.Aim. To analyze the routing of patients with FNN, the clinical practice of diagnostic studies and medical care in polyclinics and hospitals in Moscow.Material and methods. Analysis of data from the EMIAS system from polyclinics and hospitals in Moscow based on 7344 cases of primary treatment of patients with a diagnosis of FNN for 2019–2021: Gr1 — idiopathic (n = 4265), Gr2 — symptomatic (n = 3079), with the definition of patient routing, volume of diagnosis and treatment.Results. Gr1 patients visit the polyclinic (61.6%) on 8th [3; 20] day from the onset of symptoms, Gr2 — on 10th [3; 28.2]; to the hospital (38.4%) — on 1st [0; 3]. Clinical examination is variable, mainly the primary manifestations of FNN are indicated by the method of describing the deficiency. Laboratory diagnostics includes a clinical blood test (8%), the search for a viral or other cause (in isolated cases). Magnetic resonance imaging is done in different regimes (even in Gr1), only in 1/4 of cases with contrast. Recommended consultations of an otorhinolaryngologist, an ophthalmologist, rarely — doctors of surgical specialties, an exercise therapy doctor, a psychologist. The volume of diagnostics is greater in the hospital (p < 0,001). The list of drug therapy varies from evidence-based drugs to homeopathic remedies. In the polyclinic, 2/3 of the specialists prescribe the dose of prednisolone in accordance with foreign clinical recommendations, in the hospital — 1/2 (x2 = 4,83; p = 0.028). However, every second case goes beyond the “therapeutic window” due to the late visit of the patient. The most commonly used vitamins of group B (32.5%), anticholinesterase drugs (28.9%), thioctic acid (15.5%). Antiviral drugs were prescribed in 2% of cases, in the polyclinic eye care measures — less than 2%, in the hospital — 20%. Non-drug treatment includes physical therapy (21.8%), physiotherapy (14.2%), acupuncture (6.4%), facial massage (2.9%), tape correction (1.9%).Conclusions. Differences in approaches to the diagnosis, treatment and routing of patients with FNN were found. The problem can be solved by creating Russian clinical guidelines, including a unifi ed protocol for clinical examination, laboratory and instrumental diagnostics
{"title":"Routing, diagnosis and treatment of adult patients with facial nerve neuropathy in the metropolis","authors":"S. Petrikov, N. Shamalov, L. B. Zavaliy, I. Tyrov, A. N. Koriagin, A. G. Fomkin, D. V. Kuular, T. A. Nikulina, E. V. Andriyanova","doi":"10.30629/2658-7947-2023-28-5-40-51","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-5-40-51","url":null,"abstract":"The diversity and inconsistency of the proposed tactics for diagnosing and treating patients with facial nerve neuropathy (FNN) can cause difficulties for neurologists in their daily routine work.Aim. To analyze the routing of patients with FNN, the clinical practice of diagnostic studies and medical care in polyclinics and hospitals in Moscow.Material and methods. Analysis of data from the EMIAS system from polyclinics and hospitals in Moscow based on 7344 cases of primary treatment of patients with a diagnosis of FNN for 2019–2021: Gr1 — idiopathic (n = 4265), Gr2 — symptomatic (n = 3079), with the definition of patient routing, volume of diagnosis and treatment.Results. Gr1 patients visit the polyclinic (61.6%) on 8th [3; 20] day from the onset of symptoms, Gr2 — on 10th [3; 28.2]; to the hospital (38.4%) — on 1st [0; 3]. Clinical examination is variable, mainly the primary manifestations of FNN are indicated by the method of describing the deficiency. Laboratory diagnostics includes a clinical blood test (8%), the search for a viral or other cause (in isolated cases). Magnetic resonance imaging is done in different regimes (even in Gr1), only in 1/4 of cases with contrast. Recommended consultations of an otorhinolaryngologist, an ophthalmologist, rarely — doctors of surgical specialties, an exercise therapy doctor, a psychologist. The volume of diagnostics is greater in the hospital (p < 0,001). The list of drug therapy varies from evidence-based drugs to homeopathic remedies. In the polyclinic, 2/3 of the specialists prescribe the dose of prednisolone in accordance with foreign clinical recommendations, in the hospital — 1/2 (x2 = 4,83; p = 0.028). However, every second case goes beyond the “therapeutic window” due to the late visit of the patient. The most commonly used vitamins of group B (32.5%), anticholinesterase drugs (28.9%), thioctic acid (15.5%). Antiviral drugs were prescribed in 2% of cases, in the polyclinic eye care measures — less than 2%, in the hospital — 20%. Non-drug treatment includes physical therapy (21.8%), physiotherapy (14.2%), acupuncture (6.4%), facial massage (2.9%), tape correction (1.9%).Conclusions. Differences in approaches to the diagnosis, treatment and routing of patients with FNN were found. The problem can be solved by creating Russian clinical guidelines, including a unifi ed protocol for clinical examination, laboratory and instrumental diagnostics","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"59 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139237044","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}
Pub Date : 2023-11-25DOI: 10.30629/2658-7947-2023-28-5-35-39
E. M. Kamenskikh, V. Alifirova, D. V. Pashkovskaya, M. Titova, E. Koroleva, L. Levchuk, S. A. Ivanova
Neurofilaments are the structural components of neuronal axons, therefore are increasingly used in the diagnosis and course evaluation of neurological diseases. Potential application in multiple sclerosis (MS) is disease diagnosis.The aim of this work was to assess the level of serum neurofilament light chains (sNFL) to analyze the diagnostic value in MS.Material and methods. The study group included patients diagnosed with MS (n = 93), mean age — 38.1 (33.6; 45.9) years, EDSS 4 (2; 5.0) points. 75 patients (80.7%) had a relapsing-remitting course (RRMS), 18 (19.3%) had a secondary progressive course (SPMS). The comparison group (n = 40) consisted of forty age- and sex- matched volunteers. The concentration of sNFL was determined by enzyme-linked immunosorbent assay using a multimodal microplate reader Thermo Scientific Varioskan LUX (The Core Facility “Medical Genomics”, Tomsk NRMC). Statistical processing was carried out in the Statistica 12.0, the Mann-Whitney coefficient and ROC curve were used.Results. The sNFL index in patients was higher than in the control group (2.08 (1.88; 2.23) and 1.96 (1.88; 2.08) pg/ml, p = 0.006). However, statistically significant differences were achieved with more than 5 years of MS duration. Sensitivity and specificity were 67.5% and 61.5%, respectively.Conclusion. The sNFL can`t be considered as an early biomarker in MS, so its use in the primary diagnosis of the disease is not appropriate.
{"title":"Serum neurofilaments light chain as a diagnostic marker of multiple sclerosis","authors":"E. M. Kamenskikh, V. Alifirova, D. V. Pashkovskaya, M. Titova, E. Koroleva, L. Levchuk, S. A. Ivanova","doi":"10.30629/2658-7947-2023-28-5-35-39","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-5-35-39","url":null,"abstract":"Neurofilaments are the structural components of neuronal axons, therefore are increasingly used in the diagnosis and course evaluation of neurological diseases. Potential application in multiple sclerosis (MS) is disease diagnosis.The aim of this work was to assess the level of serum neurofilament light chains (sNFL) to analyze the diagnostic value in MS.Material and methods. The study group included patients diagnosed with MS (n = 93), mean age — 38.1 (33.6; 45.9) years, EDSS 4 (2; 5.0) points. 75 patients (80.7%) had a relapsing-remitting course (RRMS), 18 (19.3%) had a secondary progressive course (SPMS). The comparison group (n = 40) consisted of forty age- and sex- matched volunteers. The concentration of sNFL was determined by enzyme-linked immunosorbent assay using a multimodal microplate reader Thermo Scientific Varioskan LUX (The Core Facility “Medical Genomics”, Tomsk NRMC). Statistical processing was carried out in the Statistica 12.0, the Mann-Whitney coefficient and ROC curve were used.Results. The sNFL index in patients was higher than in the control group (2.08 (1.88; 2.23) and 1.96 (1.88; 2.08) pg/ml, p = 0.006). However, statistically significant differences were achieved with more than 5 years of MS duration. Sensitivity and specificity were 67.5% and 61.5%, respectively.Conclusion. The sNFL can`t be considered as an early biomarker in MS, so its use in the primary diagnosis of the disease is not appropriate.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"75 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139237473","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}
Pub Date : 2023-11-24DOI: 10.30629/2658-7947-2023-28-5-14-20
I. P. Yastrebtseva, A. A. Sokolova
The purpose — is to study the available scientific data on the effectiveness of the application of remote rehabilitation technologies in patients with cerebral pathology at the present stage.Material and methods. The search for relevant publications was carried out using the databases Cochrane Library, eLIBRARY.RU, PubMed, Google academy, MedLine, EBSCO, Scopus, Web of science, PEDro, CINAHL, Eric, Springer/nature, Elsevier. The review included 48 papers (systematic reviews, meta-analyses, randomized controlled trials) concerning the use of remote rehabilitation methods in patients with cerebral pathology.Results. Telerehabilitation has been shown to be an emerging healthcare field and the COVID-19 pandemic has accelerated this development. The use of new technologies in the rehabilitation of patients with impaired motor and cognitive functions will improve the quality of care provided for medical rehabilitation, ensuring the continuity and succession of ongoing activities. The use of remote rehabilitation is comparable or even superior in clinical results to an alternative to home training, and the controlled format helps to increase the motivation of patients and improve efficiency. Limitations and obstacles to the implementation of specific technologies are given, ways to overcome them are shown.
{"title":"Possibilities of modern remote technologies in neurorehabilitation","authors":"I. P. Yastrebtseva, A. A. Sokolova","doi":"10.30629/2658-7947-2023-28-5-14-20","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-5-14-20","url":null,"abstract":"The purpose — is to study the available scientific data on the effectiveness of the application of remote rehabilitation technologies in patients with cerebral pathology at the present stage.Material and methods. The search for relevant publications was carried out using the databases Cochrane Library, eLIBRARY.RU, PubMed, Google academy, MedLine, EBSCO, Scopus, Web of science, PEDro, CINAHL, Eric, Springer/nature, Elsevier. The review included 48 papers (systematic reviews, meta-analyses, randomized controlled trials) concerning the use of remote rehabilitation methods in patients with cerebral pathology.Results. Telerehabilitation has been shown to be an emerging healthcare field and the COVID-19 pandemic has accelerated this development. The use of new technologies in the rehabilitation of patients with impaired motor and cognitive functions will improve the quality of care provided for medical rehabilitation, ensuring the continuity and succession of ongoing activities. The use of remote rehabilitation is comparable or even superior in clinical results to an alternative to home training, and the controlled format helps to increase the motivation of patients and improve efficiency. Limitations and obstacles to the implementation of specific technologies are given, ways to overcome them are shown.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"147 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139242215","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}
Pub Date : 2023-11-24DOI: 10.30629/2658-7947-2023-28-5-5-13
N. Chesnokova, T. Pavlenko, O. Beznos, M. R. Nodel
Composition of tear fluid alter not only in ocular diseases but in systemic pathologic processes including central nervous system (CNS) disorders. It is due to the variety of regulatory pathways for the tear production with active participation of CNS. The review represent data about mechanisms of tear production regulation, sources of metabolites present in tears, alterations of tear fluid composition in Alzheimer’s and Parkinson diseases, multiple sclerosis and amyotrophic lateral sclerosis. These neurodegenerative diseases are accompanied by typical alteration of concentrations of different protein bioregulators (cytokines, growth factors, synucleins, etc.) and catecholamines. These alterations often correlate with ones in cerebrospinal fluid appearing even before the clinical manifestation of the disease. Thus tear fluid analyses is a promising non-invasive method for the early diagnostic, prognosis and monitoring of neurodegenerative diseases, and also for the personalized therapy. We tried to represent the most recent data because interest to this problem has increased during the last years, and our own data also.
{"title":"Tear fluid as a source of biomarkers for the neurodegeneration in central nervous system","authors":"N. Chesnokova, T. Pavlenko, O. Beznos, M. R. Nodel","doi":"10.30629/2658-7947-2023-28-5-5-13","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-5-5-13","url":null,"abstract":"Composition of tear fluid alter not only in ocular diseases but in systemic pathologic processes including central nervous system (CNS) disorders. It is due to the variety of regulatory pathways for the tear production with active participation of CNS. The review represent data about mechanisms of tear production regulation, sources of metabolites present in tears, alterations of tear fluid composition in Alzheimer’s and Parkinson diseases, multiple sclerosis and amyotrophic lateral sclerosis. These neurodegenerative diseases are accompanied by typical alteration of concentrations of different protein bioregulators (cytokines, growth factors, synucleins, etc.) and catecholamines. These alterations often correlate with ones in cerebrospinal fluid appearing even before the clinical manifestation of the disease. Thus tear fluid analyses is a promising non-invasive method for the early diagnostic, prognosis and monitoring of neurodegenerative diseases, and also for the personalized therapy. We tried to represent the most recent data because interest to this problem has increased during the last years, and our own data also.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"106 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139241777","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}
Pub Date : 2023-10-02DOI: 10.30629/2658-7947-2023-28-4-68-72
M. V. Lebenstein-Gumovski, I. A. Vyshlova, A. V. Zharchenko, T. S.-M. Rasueva, S. M. Karpov
Among the in fl ammatory diseases of the central nervous system, with progressive demyelination is acute disseminated encephalomyelitis. This disease proceeds with the development of diverse neurological symptoms, the formation of foci of demyelination. The etiology of the disease is not known for certain, but there is a connection with viral diseases. The clinical case considered in this article shows the rapid development of the disease with extensive demyelination, with the formation of foci in almost all brain structures in a short period of time, and a progressive deterioration of the patient’s condition against the background of ongoing therapy.
{"title":"Diffi culties of early diagnosis of acute disseminated encephalomyelitis","authors":"M. V. Lebenstein-Gumovski, I. A. Vyshlova, A. V. Zharchenko, T. S.-M. Rasueva, S. M. Karpov","doi":"10.30629/2658-7947-2023-28-4-68-72","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-4-68-72","url":null,"abstract":"Among the in fl ammatory diseases of the central nervous system, with progressive demyelination is acute disseminated encephalomyelitis. This disease proceeds with the development of diverse neurological symptoms, the formation of foci of demyelination. The etiology of the disease is not known for certain, but there is a connection with viral diseases. The clinical case considered in this article shows the rapid development of the disease with extensive demyelination, with the formation of foci in almost all brain structures in a short period of time, and a progressive deterioration of the patient’s condition against the background of ongoing therapy.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135900262","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}
Pub Date : 2023-10-02DOI: 10.30629/2658-7947-2023-28-4-81-86
S. K. Yevtushenko, Yu. N. Sorokin
The development of autoimmune encephalitis (AIE) is due to the formation of intracellular and extracellular neuronal antibodies to various structures of the brain tissue. Their prevalence and morbidity are comparable to infectious ones, and the detection rate has recently been increasing. Acute symptomatic seizures are an important component of the clinical core of AIE and are associated with a heterogeneous group of autoantibodies, which along with the features of the lesion topic causes a signi fi cant clinical variety of seizures. The EEG has ictal and interictal features, and the development of electrographic subclinical seizures is also possible. The basis of the treatment of AIE with epileptic seizures is immunotherapy along with the use of antiepileptic drugs with sodium channel blocking properties.
{"title":"Epileptic manifestations of autoimmune encephalitis","authors":"S. K. Yevtushenko, Yu. N. Sorokin","doi":"10.30629/2658-7947-2023-28-4-81-86","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-4-81-86","url":null,"abstract":"The development of autoimmune encephalitis (AIE) is due to the formation of intracellular and extracellular neuronal antibodies to various structures of the brain tissue. Their prevalence and morbidity are comparable to infectious ones, and the detection rate has recently been increasing. Acute symptomatic seizures are an important component of the clinical core of AIE and are associated with a heterogeneous group of autoantibodies, which along with the features of the lesion topic causes a signi fi cant clinical variety of seizures. The EEG has ictal and interictal features, and the development of electrographic subclinical seizures is also possible. The basis of the treatment of AIE with epileptic seizures is immunotherapy along with the use of antiepileptic drugs with sodium channel blocking properties.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135900264","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}
Pub Date : 2023-10-02DOI: 10.30629/2658-7947-2023-28-4-54-59
Т. N. Charnukha, S. А. Likhachev, Е. А. Belahalovaya, E. К. Sidorovich, V. V. Vashсhylin
Autoimmune encephalitis associated with anti-LGI-1 antibodies is a new type of autoimmune neurological disease.We present a description of a clinical case — this disease in a patient who was hospitalized at the Republican Scienti fi c and Practical Center for Neurology and Neurosurgery. During the analysis of blood and cerebrospinal fl uid for the presence of antibodies to autoimmune encephalitis, antibodies — IgG to anti-LGI-1 in the blood and cerebrospinal fl uid were detected. Conducted immune therapy, including intravenous administration of glucocorticosteroids, plasmapheresis and intravenous immunoglobulin led to a pronounced positive dynamics in the patient’s condition. Follow-up data indicate that the patient returned to her previous work after a course of therapy.
{"title":"Аutoimmune encephalitis associated with anti-LGI-1 antibodies","authors":"Т. N. Charnukha, S. А. Likhachev, Е. А. Belahalovaya, E. К. Sidorovich, V. V. Vashсhylin","doi":"10.30629/2658-7947-2023-28-4-54-59","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-4-54-59","url":null,"abstract":"Autoimmune encephalitis associated with anti-LGI-1 antibodies is a new type of autoimmune neurological disease.We present a description of a clinical case — this disease in a patient who was hospitalized at the Republican Scienti fi c and Practical Center for Neurology and Neurosurgery. During the analysis of blood and cerebrospinal fl uid for the presence of antibodies to autoimmune encephalitis, antibodies — IgG to anti-LGI-1 in the blood and cerebrospinal fl uid were detected. Conducted immune therapy, including intravenous administration of glucocorticosteroids, plasmapheresis and intravenous immunoglobulin led to a pronounced positive dynamics in the patient’s condition. Follow-up data indicate that the patient returned to her previous work after a course of therapy.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135899216","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}
Pub Date : 2023-10-02DOI: 10.30629/2658-7947-2023-28-4-73-80
P. S. Dynin, I. V. Litvinenko, A. Yu. Emelin, I. N. Samartsev, R. V. Andreev, I. V. Lepekhin, K. M. Naumov
The article presents the result of a two-year follow-up of a patient with a combination of parkinsonism syndromes and amyotrophic lateral sclerosis, a rare form of a neurodegenerative disease of the central nervous system called “Bright–Fan–Schwarz disease”. The diversity and polymorphism of symptoms in this disease can lead to diffi culties in diagnosis and therapy. The data of the patient’s anamnesis, the dynamics of the clinical picture during the stay in the hospital, the diagnostic and therapeutic measures taken, and the subsequent follow-up are given. In conclusion, a generalization of the features of the clinical picture and the progression of the disease in question is presented.
{"title":"Brait–Fahn–Schwarz disease (result of two-year clinical follow-up)","authors":"P. S. Dynin, I. V. Litvinenko, A. Yu. Emelin, I. N. Samartsev, R. V. Andreev, I. V. Lepekhin, K. M. Naumov","doi":"10.30629/2658-7947-2023-28-4-73-80","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-4-73-80","url":null,"abstract":"The article presents the result of a two-year follow-up of a patient with a combination of parkinsonism syndromes and amyotrophic lateral sclerosis, a rare form of a neurodegenerative disease of the central nervous system called “Bright–Fan–Schwarz disease”. The diversity and polymorphism of symptoms in this disease can lead to diffi culties in diagnosis and therapy. The data of the patient’s anamnesis, the dynamics of the clinical picture during the stay in the hospital, the diagnostic and therapeutic measures taken, and the subsequent follow-up are given. In conclusion, a generalization of the features of the clinical picture and the progression of the disease in question is presented.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"231 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135900161","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}
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