Pub Date : 2023-03-16DOI: 10.30629/2658-7947-2023-28-1-33-40
E. Elchaninova, I. Smagina, A. Afanas’eva, S. A. Elchaninova
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.
{"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}
Pub Date : 2023-03-16DOI: 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
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.
{"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}
Pub Date : 2023-03-16DOI: 10.30629/2658-7947-2023-28-1-25-32
N. V. Tsygan, Y. Vainshenker, I. Litvinenko, M. Odinak
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.
{"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}
Pub Date : 2023-03-16DOI: 10.30629/2658-7947-2023-28-1-67-72
N. Orlova, E. Y. Soloviova, T. Bonkalo, S. V. Shmeleva, M. V. Soloviova
Palliative care for neurological patients is an approach to patient care and assistance to their families facing chronic, progressive, life-limiting and disabling conditions. The peculiarity of palliative care in neurology is due to the signifi cant duration of the late stages of many neurological diseases and the distinctive features of some diseases (cognitive disorders, mental disorders, speech disorders, pelvic organ dysfunction, paresis, convulsions, contracture development, etc.), as well as the presence of concomitant common symptoms (eating disorders, pain, bedsores, respiratory failure, etc.). The symptoms developing in the advanced stages of neurological diseases requiring palliative care are described. Drug and non-drug methods of treatment are described, measures aimed at improving the quality of life and preventing complications are considered. The features of pharmacotherapy, taking into account their interaction with drugs for the treatment of concomitant pathology, are considered.
{"title":"A comprehensive approach to palliative care in neurological pathology","authors":"N. Orlova, E. Y. Soloviova, T. Bonkalo, S. V. Shmeleva, M. V. Soloviova","doi":"10.30629/2658-7947-2023-28-1-67-72","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-1-67-72","url":null,"abstract":"Palliative care for neurological patients is an approach to patient care and assistance to their families facing chronic, progressive, life-limiting and disabling conditions. The peculiarity of palliative care in neurology is due to the signifi cant duration of the late stages of many neurological diseases and the distinctive features of some diseases (cognitive disorders, mental disorders, speech disorders, pelvic organ dysfunction, paresis, convulsions, contracture development, etc.), as well as the presence of concomitant common symptoms (eating disorders, pain, bedsores, respiratory failure, etc.). The symptoms developing in the advanced stages of neurological diseases requiring palliative care are described. Drug and non-drug methods of treatment are described, measures aimed at improving the quality of life and preventing complications are considered. The features of pharmacotherapy, taking into account their interaction with drugs for the treatment of concomitant pathology, are considered.","PeriodicalId":36724,"journal":{"name":"Russian Neurological Journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41380202","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 : 2023-03-16DOI: 10.30629/2658-7947-2023-28-1-41-46
A. I. Ozerova, M. Kutlubaev, V. Mendelevich
Background. Neuropsychiatric disorders are common after stroke. They decrease patients’ quality of life and have negative impact on the disease outcomes.The objective: to analyze the reliability of the Russian Version of Emotional Behavior Index and assess the frequency and characteristics of the disorders detected by this scale in patients in acute phase of ischemic stroke.Material and methods. Fifty-nine patients were recruited. The reliability of the tool was assessed. Along with the disorders of emotional behavior stroke severity, degree of disability, presence of delirium, symptoms of depression and cognitive functions were assessed.Results. Changes in at least one category of the “Emotional Behavior Index” were observed in 40% of patients. Emotional behavior problems were associated with the severity of cognitive decline and depressive symptoms in acute stage of stroke.Conclusion. “Emotional Behavior Index” is a reliable instrument for the assessment of the state of mood of the patients with acute stroke. The results of this scale could be used as predictors of the development of cognitive and aff ective disorders.
{"title":"Emotional behavior disorders in acute ischemic stroke","authors":"A. I. Ozerova, M. Kutlubaev, V. Mendelevich","doi":"10.30629/2658-7947-2023-28-1-41-46","DOIUrl":"https://doi.org/10.30629/2658-7947-2023-28-1-41-46","url":null,"abstract":"Background. Neuropsychiatric disorders are common after stroke. They decrease patients’ quality of life and have negative impact on the disease outcomes.The objective: to analyze the reliability of the Russian Version of Emotional Behavior Index and assess the frequency and characteristics of the disorders detected by this scale in patients in acute phase of ischemic stroke.Material and methods. Fifty-nine patients were recruited. The reliability of the tool was assessed. Along with the disorders of emotional behavior stroke severity, degree of disability, presence of delirium, symptoms of depression and cognitive functions were assessed.Results. Changes in at least one category of the “Emotional Behavior Index” were observed in 40% of patients. Emotional behavior problems were associated with the severity of cognitive decline and depressive symptoms in acute stage of stroke.Conclusion. “Emotional Behavior Index” is a reliable instrument for the assessment of the state of mood of the patients with acute stroke. The results of this scale could be used as predictors of the development of cognitive and aff ective disorders.","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":"41729021","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 : 2023-01-11DOI: 10.30629/2658-7947-2022-27-6-56-62
M. Y. Dzhafarova, V. Dzhafarov, I. Senko, V. Belousov
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.
{"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}
Pub Date : 2023-01-11DOI: 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
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.
{"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}
Pub Date : 2023-01-11DOI: 10.30629/2658-7947-2022-27-6-77-83
M. Maksimova, S. Illarioshkin, I. A. Savizkaya
Reccurent painful ophthalmoplegic neuropathy (the Tolosa–Hunt syndrome) occurs due to a nonspecific granulomatous infl ammation of the walls of the cavernous sinus and the intracavernous segment of the internal carotid artery. It consists of one or more oculomotor nerves dysfunction associated with peri- and retroorbital pain; spontaneous remissions and relapses are typical. Oculomotor nerve disorders may coincide with the onset of pain or follow it within a period of up to 2 weeks. Demonstration of granulomatosis in the walls of the cavernous sinus and the intracavernous segment of the internal carotid artery, superior orbital fissure or orbit by MRI or biopsy confi rms the diagnosis of Tolosa–Hunt syndrome (THS). Corticosteroid therapy leads to rapid (within 72 hours) pain relief and recovery of oculomotor nerve function. Here, we report a case of reccurent THS in 47-year-old men. Neuroimaging schowed a nonspecific inflammation in the superior orbital fissure-cavernous sinus region on left side and contrast-enhanced thickening dura mater.
{"title":"Reccurent painful ophthalmoplegic neuropathy","authors":"M. Maksimova, S. Illarioshkin, I. A. Savizkaya","doi":"10.30629/2658-7947-2022-27-6-77-83","DOIUrl":"https://doi.org/10.30629/2658-7947-2022-27-6-77-83","url":null,"abstract":"Reccurent painful ophthalmoplegic neuropathy (the Tolosa–Hunt syndrome) occurs due to a nonspecific granulomatous infl ammation of the walls of the cavernous sinus and the intracavernous segment of the internal carotid artery. It consists of one or more oculomotor nerves dysfunction associated with peri- and retroorbital pain; spontaneous remissions and relapses are typical. Oculomotor nerve disorders may coincide with the onset of pain or follow it within a period of up to 2 weeks. Demonstration of granulomatosis in the walls of the cavernous sinus and the intracavernous segment of the internal carotid artery, superior orbital fissure or orbit by MRI or biopsy confi rms the diagnosis of Tolosa–Hunt syndrome (THS). Corticosteroid therapy leads to rapid (within 72 hours) pain relief and recovery of oculomotor nerve function. Here, we report a case of reccurent THS in 47-year-old men. Neuroimaging schowed a nonspecific inflammation in the superior orbital fissure-cavernous sinus region on left side and contrast-enhanced thickening dura mater.","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":"44380148","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 : 2023-01-11DOI: 10.30629/2658-7947-2022-27-6-50-55
S. Mekhryakov, L. Syromyatnikova, A. Kulesh, V. Shestakov, Yuliya V. Karakulova
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.
{"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}
Pub Date : 2023-01-11DOI: 10.30629/2658-7947-2022-27-6-84-88
S. A. Mamykina, V. V. Oganov, O. N. Voskresenskaya, V. V. Grinyuk
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.
{"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}
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