Journal of Central Nervous System Disease最新文献

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Implementing Virtual Care in Neurology - Challenges and Pitfalls. 在神经病学中实施虚拟护理——挑战和陷阱。
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-07-01 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221109745
Filzah Faheem, Zaitoon Zafar, Aisha Razzak, Junaid Siddiq Kalia
{"title":"Implementing Virtual Care in Neurology - Challenges and Pitfalls.","authors":"Filzah Faheem,&nbsp;Zaitoon Zafar,&nbsp;Aisha Razzak,&nbsp;Junaid Siddiq Kalia","doi":"10.1177/11795735221109745","DOIUrl":"https://doi.org/10.1177/11795735221109745","url":null,"abstract":"<p><p>Virtual care is here to stay. The explosive expansion of telehealth caused by the SARS-CoV-2 pandemic is more than a necessary measure of protection. The key drivers of this transition in healthcare delivery to a virtual setting are changes in patient behavior and expectations and societal attitudes, and prevailing technologies that are impossible to ignore. The younger population - Generation Z - is increasingly connected and mobile-first. We are heading to a world where we expect to see healthcare in general and neurology, in particular, delivered virtually. The medical community should prepare for this overhaul; proper implementation of virtual care from the ground up is the need of the hour. In an era of virtualization, it is up to the medical community to ensure a well-informed patient population, overcome cultural differences and build digital infrastructure with enhanced access and equity in care delivery, especially for the aging neurological patient population, which is not technologically savvy. Virtual care is a continuum of care that needs deeper integration at systematic levels. The design principles of a patient's journey need to be incorporated while simultaneously placing physician satisfaction with a better user experience at the center of implementation. In this paper, we discuss common challenges and pitfalls of virtual care implementation in neurology - logistical, technical, medicolegal, and those faced in incorporating health and medical education into virtual care - intending to provide solutions and strategies.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":"11795735221109745"},"PeriodicalIF":4.8,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/46/6c/10.1177_11795735221109745.PMC9252001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40566135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Experimental Models of SARS-COV-2 Infection in the Central Nervous System. SARS-COV-2中枢神经系统感染的实验模型
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-06-28 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221102231
Anna Maria Paoletti, Maria Grazia Melilli, Immacolata Vecchio
{"title":"Experimental Models of SARS-COV-2 Infection in the Central Nervous System.","authors":"Anna Maria Paoletti,&nbsp;Maria Grazia Melilli,&nbsp;Immacolata Vecchio","doi":"10.1177/11795735221102231","DOIUrl":"https://doi.org/10.1177/11795735221102231","url":null,"abstract":"<p><p>Coronavirus disease 2019 (COVID-19) has raised serious concerns worldwide due to its great impact on human health and forced scientists racing to find effective therapies to control the infection and a vaccine for the virus. To this end, intense research efforts have focused on understanding the viral biology of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for COVID-19. The ever-expanding list of cases, reporting clinical neurological complications in COVID-19 patients, strongly suggests the possibility of the virus invading the nervous system. The pathophysiological processes responsible for the neurological impact of COVID-19 are not fully understood. Some neurodegenerative disorders sometimes take more than a decade to manifest, so the long-term pathophysiological outcomes of SARS-CoV-2 neurotropism should be regarded as a challenge for researchers in this field. There is no documentation on the long-term impact of SARS-CoV-2 on the human central nervous system (CNS). Most of the data relating to neurological damage during SARS-CoV-2 infection have yet to be established experimentally. The purpose of this review is to describe the knowledge gained, from experimental models, to date, on the mechanisms of neuronal invasion and the effects produced by infection. The hope is that, once the processes are understood, therapies can be implemented to limit the damage produced. Long-term monitoring and the use of appropriate and effective therapies could reduce the severity of symptoms and improve quality of life of the most severely affected patients, with a special focus on those have required hospital care and assisted respiration.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":"11795735221102231"},"PeriodicalIF":4.8,"publicationDate":"2022-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d4/85/10.1177_11795735221102231.PMC9247991.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40467885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Alopecia in Multiple Sclerosis Patients Treated with Disease Modifying Therapies. 用疾病修饰疗法治疗多发性硬化症患者的脱发
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-06-23 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221109674
Mokshal H Porwal, Amber Salter, Dhruvkumar Patel, Ahmed Z Obeidat
{"title":"Alopecia in Multiple Sclerosis Patients Treated with Disease Modifying Therapies.","authors":"Mokshal H Porwal,&nbsp;Amber Salter,&nbsp;Dhruvkumar Patel,&nbsp;Ahmed Z Obeidat","doi":"10.1177/11795735221109674","DOIUrl":"https://doi.org/10.1177/11795735221109674","url":null,"abstract":"<p><strong>Background: </strong>There is currently limited literature addressing the reporting of alopecia in multiple sclerosis (MS) patients treated with disease-modifying therapies (DMTs). Anecdotal reports of hair thinning from patients on various DMTs prompted further investigation of a large database.</p><p><strong>Objective: </strong>To analyze total reports, source of reporting, age distribution, and sex distribution of alopecia associated with DMTs.</p><p><strong>Methods: </strong>FDA Adverse Event Reporting System (FAERS) public dashboard and OpenFDA database were analyzed for alopecia reports between January 1, 2009, and June 30, 2020, attributed to usage in MS of FDA approved DMTs. The main outcomes included total reports for each drug, age, sex distribution, and reporting source. OpenFDA data was used for statistical analyses including reporting odds ratios (ROR) and information components.</p><p><strong>Results: </strong>8759 alopecia reports were identified among 44 114 adverse events in skin and subcutaneous tissue disorders (19.9%). 3701 (42.3%) with teriflunomide, 1675 (19.1%) with dimethyl fumarate, 985 (11.2%) with natalizumab, 926 (10.6%) with fingolimod, 659 (7.5%) with interferon beta-1a, 257 (2.9%) with glatiramer acetate, 243 (2.8%) with ocrelizumab, 124 (1.4%) with interferon beta-1b, 117 (1.3%) with alemtuzumab, 36 (.4%) with siponimod, 24 (.3%) with cladribine, and 12 (.1%) with rituximab. Reports were mostly made by patients (78.3%) and highest in fifth and sixth decades of life. OpenFDA analyses showed increased ROR (ROR 95% confidence interval) of alopecia in females with teriflunomide (18.00, 17.12-18.93), alemtuzumab (1.43, 1.16-1.76), dimethyl fumarate (1.26, 1.18-1.34), and ocrelizumab (1.28, 1.11-1.49). Increased ROR in males was associated with teriflunomide (24.65, 20.72-29.31).</p><p><strong>Conclusion: </strong>We identified many reports of alopecia for DMTs in addition to teriflunomide. Within the limitations of the database, increased RORs of alopecia were observed for females treated with alemtuzumab, dimethyl fumarate, and ocrelizumab. The source of reporting was largely driven by female patients. Possible alopecia, even if transient, should be considered during patient education when starting DMTs.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":"11795735221109674"},"PeriodicalIF":4.8,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/db/fb/10.1177_11795735221109674.PMC9234852.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40410583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Effects of Transcranial Direct Current Stimulation on Memory of Elderly People with Mild Cognitive Impairment or Alzheimer's Disease: A Systematic Review. 经颅直流电刺激对老年轻度认知障碍或阿尔茨海默病患者记忆影响的系统评价
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-06-23 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221106887
Eliclebysson Rodrigo da Silva, Italo Ramon Rodrigues Menezes, Ivani Brys
{"title":"Effects of Transcranial Direct Current Stimulation on Memory of Elderly People with Mild Cognitive Impairment or Alzheimer's Disease: A Systematic Review.","authors":"Eliclebysson Rodrigo da Silva,&nbsp;Italo Ramon Rodrigues Menezes,&nbsp;Ivani Brys","doi":"10.1177/11795735221106887","DOIUrl":"https://doi.org/10.1177/11795735221106887","url":null,"abstract":"<p><strong>Background: </strong>Transcranial direct current stimulation (tDCS) is one of the most studied non-invasive neuromodulation techniques, presenting itself as a promising technique for several pathologies, such as cognitive decline.</p><p><strong>Objectives: </strong>The aim of this study was to conduct a systematic review of the effects of tDCS on the memory of elderly people with mild cognitive impairment or Alzheimer's disease, in order to describe the main protocols used, and to investigate the therapeutic effectiveness of this technique.</p><p><strong>Data sources and methods: </strong>869 studies reporting controlled clinical trials were found in the databases PubMed, Web of Science, Lilacs, PsycArticles and Scielo, from which 13 met the expected requirements and were included in the final analysis.</p><p><strong>Results: </strong>There was a great variability in the stimulation protocols used in the studies; and methodological weaknesses were observed, such as absence of sample size calculation, and of information on effect sizes. Positive effects of tDCS were observed only in five studies, and the combination of stimulation and cognitive training did not seem to potentiate the effects of tDCS.</p><p><strong>Conclusion: </strong>Although tDCS can be considered a technique with important therapeutic potential, more studies are needed to understand the acute effects of tDCS on memory of elderly people and the durability of these effects over time.</p><p><strong>Registration: </strong>PROSPERO (CRD-42020200573).</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":"11795735221106887"},"PeriodicalIF":4.8,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/29/17/10.1177_11795735221106887.PMC9234827.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40410582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Viloxazine for Attention-Deficit Hyperactivity Disorder: A Systematic Review and Meta-analysis of Randomized Clinical Trials. 治疗注意力缺陷多动障碍的维洛沙嗪:随机临床试验的系统回顾和元分析》。
IF 2.6
Journal of Central Nervous System Disease Pub Date : 2022-05-20 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221092522
Alok Singh, Mahesh Kumar Balasundaram, Abhishek Singh
{"title":"Viloxazine for Attention-Deficit Hyperactivity Disorder: A Systematic Review and Meta-analysis of Randomized Clinical Trials.","authors":"Alok Singh, Mahesh Kumar Balasundaram, Abhishek Singh","doi":"10.1177/11795735221092522","DOIUrl":"10.1177/11795735221092522","url":null,"abstract":"<p><strong>Background: </strong>Recently, the United States Food and Drug Administration (USFDA) approved viloxazine extended-release (ER) to manage attention-deficit hyperactivity disorder (ADHD) in pediatric patients of 6-17 years of age.</p><p><strong>Objective: </strong>To perform a meta-analysis to determine the safety and efficacy of viloxazine ER in the management of ADHD.</p><p><strong>Data source and methods: </strong>A literature search was performed through the databases Cochrane Library, PubMed, and clinicaltrials.gov, for a period from inception to August 2021, with the keywords: viloxazine, SPN-812, ADHD, and randomized clinical trials. The randomized controlled trials published in English language that analyzed the efficacy and safety were included. The risk of bias (RoB) was assessed by RoB tool. The outcomes included in this study were the proportion of patients with a 50% reduction in ADHD-Rating Scale-5 (ADHD-RS-5 responders) and improvement in CGI-I scale and the proportion of patients with at least one adverse event, the incidence of somnolence and Serious Adverse Events (SAEs).</p><p><strong>Results: </strong>This meta-analysis includes 1605 patients from five randomized clinical trials; all of the trials were at low risk of bias. Viloxazine group had more ADHD-RS-5 responders as compared to placebo; RR = 1.62; 95% CI = 1.36-1.93; <i>P</i> = <.00001. Significantly higher number of patients showed improved CGI-I score; RR = 1.53; 95% CI = 1.32-1.78; <i>P</i> = <.00001. A higher proportion of patients was observed with at least one adverse event (RR = 1.52; 95% CI = 1.24-1.85; <i>P</i> = <.0001), and somnolence (RR = 3.93; 95% CI = 2.11-7.31; <i>P</i> = <.0001) in viloxazine group. The incidence of SAEs was more in viloxazine group (RR = 2.98; 95% CI = .67-13.3; <i>P</i> = .15).</p><p><strong>Conclusions: </strong>Viloxazine was found to be significantly superior to placebo in both efficacy outcomes. Adverse events and somnolence were significantly more than the placebo. The incidence was SAEs was more in the viloxazine group but was not statistically significant.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"14 ","pages":"11795735221092522"},"PeriodicalIF":2.6,"publicationDate":"2022-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/35/ee/10.1177_11795735221092522.PMC9125110.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10250403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fatigue in Post-COVID-19 Syndrome: Clinical Phenomenology, Comorbidities and Association With Initial Course of COVID-19 COVID-19后综合征的疲劳:临床现象学、合并症及其与COVID-19初始病程的关系
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-05-01 DOI: 10.1177/11795735221102727
L. Diem, Livia Fregolente-Gomes, J. Warncke, H. Hammer, C. Friedli, N. Kamber, Simon Jung, S. Bigi, M. Funke-Chambour, A. Chan, C. Bassetti, A. Salmen, R. Hoepner
{"title":"Fatigue in Post-COVID-19 Syndrome: Clinical Phenomenology, Comorbidities and Association With Initial Course of COVID-19","authors":"L. Diem, Livia Fregolente-Gomes, J. Warncke, H. Hammer, C. Friedli, N. Kamber, Simon Jung, S. Bigi, M. Funke-Chambour, A. Chan, C. Bassetti, A. Salmen, R. Hoepner","doi":"10.1177/11795735221102727","DOIUrl":"https://doi.org/10.1177/11795735221102727","url":null,"abstract":"Introduction Post-COVID-19 syndrome affects approximately 10-25% of people suffering from COVID-19 infection, irrespective of initial COVID-19 severity. Fatigue is one of the major symptoms, occurring in 30-90% of people with post-COVID-19 syndrome. This study aims at describing factors associated with fatigue in people with Post-COVID-19 seen in our newly established Post-Covid clinic. Methods This retrospective single center study included 42 consecutive patients suffering from Post-COVID-19 syndrome treated at the Department of Neurology, University Hospital Bern, between 11/2020 and05/2021. Clinical phenomenology of Post-COVID-19 syndrome with a special focus on fatigue and risk factor identification was performed using Mann-Whitney U Test, Pearson Correlation, and Chi-Quadrat-Test. Results Fatigue (90.5%) was the most prevalent Post-COVID-19 symptom followed by depressive mood (52.4%) and sleep disturbance (47.6%). Fatigue was in mean severe (Fatigue severity scale (FSS) mean 5.5 points (95% Confidence interval (95CI) 5.1 - 5.9, range .9 - 6.9, n = 40), and it was unrelated to age, COVID-19 severity or sex. The only related factors with fatigue severity were daytime sleepiness and depressed mood. Conclusion Fatigue is the main symptom of the Post-COVID-19 syndrome in our cohort. Further studies describing this syndrome are needed to prepare the healthcare systems for the challenge of treating patients with Post-COVID-19 syndrome.","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":""},"PeriodicalIF":4.8,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47691164","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: 8
Stronger Microstructural Damage Revealed in Multiple Sclerosis Lesions With Central Vein Sign by Quantitative Gradient Echo MRI. 定量梯度回声MRI显示多发性硬化症伴中心静脉征象的微结构损伤较强。
IF 2.6
Journal of Central Nervous System Disease Pub Date : 2022-03-29 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221084842
Victoria A Levasseur, Biao Xiang, Amber Salter, Dmitriy A Yablonskiy, Anne H Cross
{"title":"Stronger Microstructural Damage Revealed in Multiple Sclerosis Lesions With Central Vein Sign by Quantitative Gradient Echo MRI.","authors":"Victoria A Levasseur, Biao Xiang, Amber Salter, Dmitriy A Yablonskiy, Anne H Cross","doi":"10.1177/11795735221084842","DOIUrl":"10.1177/11795735221084842","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) lesions typically form around a central vein that can be visualized with FLAIR* MRI, creating the central vein sign (CVS) which may reflect lesion pathophysiology. Herein we used gradient echo plural contrast imaging (GEPCI) MRI to simultaneously visualize CVS and measure tissue damage in MS lesions. We examined CVS in relation to tissue integrity in white matter (WM) lesions and among MS subtypes.</p><p><strong>Objective: </strong>We aimed to determine if CVS positive lesions were specific to MS subtype, if CVS can be detected consistently among readers using the GEPCI method, and if there were differences in tissue damage in lesions with vs without CVS.</p><p><strong>Subjects and methods: </strong>Thirty relapsing-remitting MS (RRMS) subjects and 38 primary and secondary progressive MS (PMS) subjects were scanned with GEPCI protocol at 3T. GEPCI T2*-SWI images were generated to visualize CVS. Two investigators independently evaluated WM lesions for CVS and measured lesion volumes. To estimate tissue damage severity, total lesion volume, and mean lesion volume, R2t*-based tissue damage score (TDS) of individual lesions and tissue damage load (TDL) were measured for CVS+, CVS-, and confluent lesions. Spearman correlations were made between MRI and clinical data. One-way ANCOVA with age and sex as covariates was used to compare measurements of CVS+ vs CVS- lesions in each individual.</p><p><strong>Results: </strong>398 of 548 lesions meeting inclusion criteria showed CVS. Most patients had ≥40% CVS+ lesions. CVS+ lesions were present in similar proportion among MS subtypes. Interobserver agreement was high for CVS detection. CVS+ and confluent lesions had higher average and total volumes vs CVS- lesions. CVS+ and confluent lesions had more tissue damage than CVS- lesions based on TDL and mean TDS.</p><p><strong>Conclusion: </strong>CVS occurred in RRMS and PMS in similar proportions. CVS+ lesions had greater tissue damage and larger size than CVS- lesions.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":"14 ","pages":"11795735221084842"},"PeriodicalIF":2.6,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9e/9f/10.1177_11795735221084842.PMC8973074.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10361599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glaucomatous Type Cupping Caused by Internal Carotid Artery Compression: a Case Report. 颈内动脉压迫致青光眼型拔罐1例。
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-02-14 eCollection Date: 2022-01-01 DOI: 10.1177/11795735221081588
Francesco Pellegrini, Alessandra Cuna, Giovanni Prosdocimo
{"title":"Glaucomatous Type Cupping Caused by Internal Carotid Artery Compression: a Case Report.","authors":"Francesco Pellegrini,&nbsp;Alessandra Cuna,&nbsp;Giovanni Prosdocimo","doi":"10.1177/11795735221081588","DOIUrl":"https://doi.org/10.1177/11795735221081588","url":null,"abstract":"<p><p>A 71-year-old woman with a diagnosis of normal tension glaucoma (NTG) presented with complains of progressive visual loss in the right eye. Examination revealed features consistent with compressive optic neuropathy. Although brain magnetic resonance imaging (MRI) was initially interpreted as normal, re-evaluation disclosed a compression on the right optic nerve from the right internal carotid artery. We highlight the clinical differential diagnosis between NTG and compressive optic neuropathy. This case is a reminder that a compressive optic neuropathy may be caused by anatomical variation of normal intracranial structures.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":"11795735221081588"},"PeriodicalIF":4.8,"publicationDate":"2022-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d2/92/10.1177_11795735221081588.PMC8854233.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39938477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital. 与遗传诊断的睡眠相关的运动性癫痫:三级转诊医院的病例系列描述。
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-02-11 eCollection Date: 2022-01-01 DOI: 10.1177/11795735211060114
Carmen Arenas-Cabrera, Pablo Baena-Palomino, Javier Sánchez-García, María Oliver-Romero, Yamin Chocrón-González, Manuel Caballero-Martínez
{"title":"Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.","authors":"Carmen Arenas-Cabrera,&nbsp;Pablo Baena-Palomino,&nbsp;Javier Sánchez-García,&nbsp;María Oliver-Romero,&nbsp;Yamin Chocrón-González,&nbsp;Manuel Caballero-Martínez","doi":"10.1177/11795735211060114","DOIUrl":"https://doi.org/10.1177/11795735211060114","url":null,"abstract":"<p><strong>Introduction: </strong>Sleep-related hypermotor epilepsy (SHE) is characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. Experts agree that SHE should be considered a unique syndrome.</p><p><strong>Purpose: </strong>We present 8 cases of SHE for which a genetic diagnosis was carried out using a multigene epilepsy panel.</p><p><strong>Methods: </strong>We retrospectively screened familial and isolated cases of SHE in current follow-ups in our center.</p><p><strong>Results: </strong>We included 8 (5F/3M) patients, 5 of whom had a positive familial history of epilepsy. We identified a pathogenic mutation in <i>CHRNA4</i>, <i>CHRNB2</i>, and 3 different pathogenic changes in <i>DEPDC5</i>.</p><p><strong>Conclusions: </strong>Awareness of SHE needs to be raised, given its implications for finding an appropriate treatment, its relationship to cognitive and psychiatric comorbidities, and the opportunity to prevent the disorder in the descendants. We present our series with their clinical, radiological, electroencephalographic, and genetic characteristics, in which we found 3 pathogenic mutations in the <i>DEPDC5</i> gene but not previously reported in the literature. Identifying new pathogenic mutations or new genes responsible for SHE will facilitate a better understanding of the disease and a correct genetic counseling.</p>","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":" ","pages":"11795735211060114"},"PeriodicalIF":4.8,"publicationDate":"2022-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6e/5a/10.1177_11795735211060114.PMC8844731.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39934108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Comparison of the effect and treatment sequence between a 2-week parallel repetitive transcranial magnetic stimulation and rehabilitation and a 2-week rehabilitation-only intervention during a 4-week hospitalization for upper limb paralysis after stroke: An open-label, crossover observational study. 卒中后上肢瘫痪住院4周期间,2周平行重复经颅磁刺激和康复与2周仅康复干预的效果和治疗顺序的比较:一项开放标签、交叉观察研究。
IF 4.8
Journal of Central Nervous System Disease Pub Date : 2022-01-20 eCollection Date: 2022-01-01 DOI: 10.1177/11795735211072731
Naoki Yamada, Kazumi Kashiwabara, Toru Takekawa, Midori Hama, Masachika Niimi, Takatoshi Hara, Satoshi Furumizo, Marika Tsuboi
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引用次数: 2
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