Russian Neurological Journal最新文献_第8页

HLA-DRB1 polymorphism and risk of pediatric-onset and adult-onset multiple sclerosis: a case–control study HLA-DRB1多态性与儿童发病和成人发病多发性硬化症的风险:一项病例对照研究

Russian Neurological Journal Pub Date : 2023-03-16 DOI: 10.30629/2658-7947-2023-28-1-33-40

E. Elchaninova, I. Smagina, A. Afanas’eva, S. A. Elchaninova

{"title":"HLA-DRB1 polymorphism and risk of pediatric-onset and adult-onset multiple sclerosis: a case–control study","authors":"E. Elchaninova, I. Smagina, A. Afanas’eva, S. A. Elchaninova","doi":"10.30629/2658-7947-2023-28-1-33-40","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-1-33-40","url":null,"abstract":"The association of predisposition to multiple sclerosis (MS) with HLA-DRB1 gene polymorphisms is the strongest. It is not clear whether the DRB1 alleles associated with the risk of this disease diff er in adult and pediatric populations living in the same environmental conditions.Objective: comparative study of associations of HLA-DRB1 gene polymorphism with the risk of pediatric-onset MS and adult-onset MS in the Altai region.Material and methods. Caucasian with relapsing-remitting MS, born and living in the Altai region of Russia in the southeast of Western Siberia, participated in the case–control study: 200 patients with adult-onset MS, 86 patients with pediatric-onset MS. The control group included 200 volunteers. Genotyping was performed by TaqMan probes. Results. Alleles 03, 13, 15 of the HLA-DRB1 gene are genetic risk factors for both adult-onset MS and pediatric-onset MS in Caucasians in the Altai region. Alleles 01 and 07 of the HLA-DRB1 gene may have a protective eff ect against pediatric-onset MS, alleles 01, 07, 11 and 16 against adult-onset MS.Conclusion. It can be assumed that the diff erence in the age of MS onset is not associated with the diff erent infl uence of risk alleles of the HLA-DRB1 gene in populations under and over 18 years of age.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47156089","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

Magnetic-resonance imaging semiology of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in subjects from Russian Federation 俄罗斯联邦受试者大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病（CADASIL）的磁共振成像符号学

Russian Neurological Journal Pub Date : 2023-03-16 DOI: 10.30629/2658-7947-2023-28-1-13-24

C. Cherebillo, V. Nazarov, C. V. Lapin, N. Totolyan, E. Bubnova, G. Makshakov, A. Mazing, N. V. Shuleshova, Y. M. Kiryanov, V. Emanuel

{"title":"Magnetic-resonance imaging semiology of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in subjects from Russian Federation","authors":"C. Cherebillo, V. Nazarov, C. V. Lapin, N. Totolyan, E. Bubnova, G. Makshakov, A. Mazing, N. V. Shuleshova, Y. M. Kiryanov, V. Emanuel","doi":"10.30629/2658-7947-2023-28-1-13-24","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-1-13-24","url":null,"abstract":"Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is common variant of small vessel disease. Determination of neuroimaging markers have already contributed at an early stage to the more timely diagnosis of the CADASIL.Objective. The aim of the study was to determine probable CADASIL magnetic resonance imaging (MRI) biomarkers for patients from the Russian population.Material and methods. The study included 16 patients. Diagnosis of CADASIL was suspected based on clinical data and an MRI and confi rmed by a molecular genetic study of the NOTCH3 gene. Brain MRI data from 16 patients and spinal cord MRI data from 5 patients were collected and analyzed. Cerebrospinal fl uid (CSF) analysis was performed for diff erential diagnosis in 2 subjects.Results. White matter hyperintensity was observed in 100% of cases. The involvement of the anterior temporal lobes and external capsules was revealed in 62 and 68% of subjects respectively. Multiple lacunar infarcts are characteristic for CADASIL. Microbleeds were detected in 27% of patients. Brain atrophy was observed in 56% of cases. Lesions in corpus callosum and cervical spinal cord were found in 2 patients.Conclusion. Detection of white matters hyperintensities in frontal and parietal lobes, multiple lacunar infarcts with suspected CADASIL makes it possible to select the group of patients for further molecular genetic testing in order to detect mutations in NOTCH3 gene.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42120416","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

Muscular-tonic disorders in a vegetative and a minimal consciousness states 植物人和最低意识状态下的肌肉紧张性疾病

Russian Neurological Journal Pub Date : 2023-03-16 DOI: 10.30629/2658-7947-2023-28-1-25-32

N. V. Tsygan, Y. Vainshenker, I. Litvinenko, M. Odinak

{"title":"Muscular-tonic disorders in a vegetative and a minimal consciousness states","authors":"N. V. Tsygan, Y. Vainshenker, I. Litvinenko, M. Odinak","doi":"10.30629/2658-7947-2023-28-1-25-32","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-1-25-32","url":null,"abstract":"Muscular-tonic disorders (MTD) in prolonged disorders of consciousness (PDoC), including a vegetative state (VS) and a minimal consciousness state (MCS), are poorly understood.Aim. To systematize MTD in PDoC, to highlight the features of their dynamics depending on the change in consciousness.Material and methods. 87 patients in PDoC (VS — 52, MCS — 35) resulting from brain damage of diff erent etiology, lasting from 2 months up to 10 years. MTD, provoking hyperkinesis factors and consciousness were analyzed retrospectively in the dynamics and complex.Results. MTD had 98% of patients in PDoC. The ratio of occurrence of spasticity: hyperkinesis: postural spasms corresponded to 11:11:10, and hyperkinesis — dystonia: myoclonus/myokymia: athetosis: stereotypes: ballism: choreiform hyperkinesis: tremor — 17:10:6:3:2:1:1. Their clinical variants and features are noted. The total dynamics of MTD on improved consciousness was as follows. In general, regardless of the initial VS or MCS, their “change” (especially decrease) prevailed over “no changes” (p < 0.001). Comparatively more often the decrease occurred in MCS “plus” (p < 0.05); appearance/increase/modifi cation — in VS (p < 0.05); “no changes” — in MCS “minus” (p < 0.01). When considered separately, spasticity, dystonia, spasms, hemiballismus and stereotypy in MCS “plus” correlated (p < 0.01) with the change of consciousness. The key provoking hyperkinesis factors in VS were pain and other sensory infl uences (p < 0.01), but their role from MCS “minus” to MCS “plus” decreased, while the role both conscious emotions and movements increased (p < 0.01).Conclusion. Along with academic interest, the data are promising in developing the prognosis, pathogenesis and treatment of PDoC.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41677292","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

A comprehensive approach to palliative care in neurological pathology 神经病理学中姑息治疗的综合方法

Russian Neurological Journal Pub Date : 2023-03-16 DOI: 10.30629/2658-7947-2023-28-1-67-72

N. Orlova, E. Y. Soloviova, T. Bonkalo, S. V. Shmeleva, M. V. Soloviova

引用次数: 0

Emotional behavior disorders in acute ischemic stroke 急性缺血性脑卒中的情绪行为障碍

Russian Neurological Journal Pub Date : 2023-03-16 DOI: 10.30629/2658-7947-2023-28-1-41-46

A. I. Ozerova, M. Kutlubaev, V. Mendelevich

引用次数: 0

Using of MRI-guided focused ultrasound treatment for Parkinson’s disease tremor. Clinical case and literature review MRI引导下聚焦超声治疗帕金森病震颤。临床病例及文献综述

Russian Neurological Journal Pub Date : 2023-01-11 DOI: 10.30629/2658-7947-2022-27-6-56-62

M. Y. Dzhafarova, V. Dzhafarov, I. Senko, V. Belousov

{"title":"Using of MRI-guided focused ultrasound treatment for Parkinson’s disease tremor. Clinical case and literature review","authors":"M. Y. Dzhafarova, V. Dzhafarov, I. Senko, V. Belousov","doi":"10.30629/2658-7947-2022-27-6-56-62","DOIUrl":"https://doi.org/10.30629/2658-7947-2022-27-6-56-62","url":null,"abstract":"MRI-guided high-intensity focused ultrasound (MRgFUS) is a new emerging and promising procedure applied in a wide range of clinical fi elds in modern medicine. This innovative treatment method follows is an important step towards the ideal surgery of the future: non-invasive, targeted, safe, controlled, eff ective and ambulatory. Randomized studies show high effi cacy in the treatment of tremor for Parkinson disease and essential tremor. Safety is also having similar profi le with other surgical procedures and has a mostly transient character of complications. Such advantages as a non-invasive treatment, controlled eff ect and the safety profi le of the procedure made it popular in the treatment of movement disorders. This article demonstrates a clinical case of the fi rst using of MRgFUS for the treatment of Parkinson’s disease tremor at the Federal Center for Brain Research and Neurotechnologies of the Federal Medical and Biological Agency of Russia in Moscow. The 54-year-old patient with Parkinson disease, 2 Hoehn–Yahr, admitted to our hospital. Severe tremor of right upper extremity impaired his life. Neurosurgical procedure was considered due to medication failed. Patient underwent focused ultrasound thalamotomy with totally tremor relief. No additional neurological impairment was noted, only bradykinesia and rigidity were improved. Patient discharged on 3rd day after the procedure.Conclusions. MRgFUS is an innovative surgical procedure. Advantages of these methods such as non-invasive manner, controlled, safety allowed to be priority procedure for patients with unilateral tremor.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48516252","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

Тhe clinical case of benign monomelic amyotrophy of the lower limb Тhe下肢良性单部肌萎缩症临床一例

Russian Neurological Journal Pub Date : 2023-01-11 DOI: 10.30629/2658-7947-2022-27-6-70-76

R. V. Andreev, A. V. Smolyannikova, S. Golokhvastov, A. Emelin, V. Lobzin, I. Litvinenko, N. V. Tsygan, D. Frunza, M. N. Markova, N. A. Lupina

{"title":"Тhe clinical case of benign monomelic amyotrophy of the lower limb","authors":"R. V. Andreev, A. V. Smolyannikova, S. Golokhvastov, A. Emelin, V. Lobzin, I. Litvinenko, N. V. Tsygan, D. Frunza, M. N. Markova, N. A. Lupina","doi":"10.30629/2658-7947-2022-27-6-70-76","DOIUrl":"https://doi.org/10.30629/2658-7947-2022-27-6-70-76","url":null,"abstract":"The benign monomelic amyotrophy of the lower limb is a slowly progressive disease that is clinically manifested by muscle atrophy in only one lower limb. This disease is quite rare, while it is most common in Asian countries (about 80 cases have been described). According to the literature a total of 16 cases of benign monomelic amyotrophy of the lower limb were described in Europe by 2000. Etiology and pathogenesis have not been reliably studied now. The article presents a clinical case of the development of this disease in a 42-year-old patient. The patient was admitted with complaints of weakness in the right leg and its decrease in volume. During the period of hospitalization, diff erential diagnosis was carried out with amyotrophic lateral sclerosis, progressive muscle atrophy, Hirayama disease, vascular and paraneoplastic processes. According to the results of a comprehensive laboratory and instrumental examination, the diagnosis was fi rst established: benign monomelic amyotrophy of the lower limb. The father of a patient who had atrophy of the muscles of the left lower limb would also be examined. According to the data of hereditary anamnesis, an assumption was made about the presence of the phenomenon of anticipation in the inheritance of benign monomelic amyotrophy of the lower limb. This article describes for the fi rst time a case of benign monomelic amyotrophy of the lower limb in the domestic literature, as well as a familial case of this disease all over the world.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42876671","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

Reccurent painful ophthalmoplegic neuropathy 反复发作的疼痛性眼麻痹神经病变

Russian Neurological Journal Pub Date : 2023-01-11 DOI: 10.30629/2658-7947-2022-27-6-77-83

M. Maksimova, S. Illarioshkin, I. A. Savizkaya

引用次数: 0

Phenotyping of embolic cryptogenic stroke based on ultrasound diagnosis and determination of serum concentration NT-proBNP 基于超声诊断和血清NT-proBNP浓度测定的栓塞性隐源性卒中表型分析

Russian Neurological Journal Pub Date : 2023-01-11 DOI: 10.30629/2658-7947-2022-27-6-50-55

S. Mekhryakov, L. Syromyatnikova, A. Kulesh, V. Shestakov, Yuliya V. Karakulova

{"title":"Phenotyping of embolic cryptogenic stroke based on ultrasound diagnosis and determination of serum concentration NT-proBNP","authors":"S. Mekhryakov, L. Syromyatnikova, A. Kulesh, V. Shestakov, Yuliya V. Karakulova","doi":"10.30629/2658-7947-2022-27-6-50-55","DOIUrl":"https://doi.org/10.30629/2658-7947-2022-27-6-50-55","url":null,"abstract":"Determining the potential mechanisms underlying cryptogenic ischemic stroke is essential to guide diagnostic discovery and personalize secondary prevention.Purpose is to study the phenotypes of embolic stroke of undetermined source (ESUS) based on ultrasound diagnosis and determination of the serum concentration of pro-natriuretic N-terminal peptide B-type (N-Terminal Pro-brain Natriuretic Peptide, NT-proBNP).Materials and methods. 141 patients with ESUS were examined. In addition to the standard examination aimed at fi nding the cause of stroke, the functional characteristics of the left atrium were assessed using the emptying fraction (left atrial emptying fraction, LAEF) and the functional index (left atrial function index, LAFI), and the concentration of NT-proBNP in blood serum was also measured.Results. The most common potential sources of embolism were atherosclerotic plaques in the stroke-associated carotid artery with stenosis in 30–49% (31.9% of patients) and atrial cardiopathy with a decrease in LAEF < 51.8% (24.8% of patients). An analysis of combinations of potential sources showed that 46.1% of patients had a negative phenotype, 21.3% of patients had a cardiac phenotype, 19.1% of patients had an atherosclerotic phenotype, and 13.5% of the examined patients had a mixed phenotype. Patients with a cardio-atherosclerotic phenotype diff ered from patients with a negative phenotype by higher disability on the Rankin scale at discharge from the hospital.Conclusion. The main potential embolic sources in patients with ESUS are non-stenosing carotid atherosclerosis and atrial cardiopathy with decreased LAEF. Cardiac and atherosclerotic phenotypes are determined in a quarter of patients, a mixed phenotype is found in every seventh patient, while in almost half of the patients no sources of embolism are found.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47833448","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

Acute uremic polyneuropathy in a patient with Alzheimer’s disease 阿尔茨海默病患者的急性尿毒症多神经病变

Russian Neurological Journal Pub Date : 2023-01-11 DOI: 10.30629/2658-7947-2022-27-6-84-88

S. A. Mamykina, V. V. Oganov, O. N. Voskresenskaya, V. V. Grinyuk

{"title":"Acute uremic polyneuropathy in a patient with Alzheimer’s disease","authors":"S. A. Mamykina, V. V. Oganov, O. N. Voskresenskaya, V. V. Grinyuk","doi":"10.30629/2658-7947-2022-27-6-84-88","DOIUrl":"https://doi.org/10.30629/2658-7947-2022-27-6-84-88","url":null,"abstract":"The article presents a case of acute uremic neuropathy. Without any visible cause, a 71-year-old patient felt weakness in legs and numbness in feet. Her neurological status assessment on admission to the hospital showed peripheral tetraparesis and impaired sensitivity of the polyneuropathic type. Neurological symptoms appeared due to renal dysfunction, which had been confi rmed with laboratory test. Electroneuromyography revealed signs of acute demyelinating polyneuropathy. Аt the hospital, the patient was diagnosed Alzheimer’s disease. The treatment provided at the hospital led to normalization of her laboratory parameters and complete restoration of motor functions. The peculiarity of the presented clinical case is that the patient started violating drinking regime due to her cognitive impairment which resulted in renal dysfunction and acute uremic neuropathy. The other peculiarity of the case is that it was enough to correct the water-electrolyte disorders to fully restore the patient’s motor functions within a month, without the use of dialysis. Finally, the article discusses the issue of pathogenesis and diff erential diagnosis of other types of polyneuropathies.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44097323","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