摘要： 《临床神经病学杂志》系国家级神经病学专业性学术刊物,由南京医科大学附属脑科医院主办。刊登内容以临床神经病学为主,兼及有关边缘学科。读者对象以从事临床神经病学专业的高、中级人员为主,也可供内科、儿科、眼科、五官科医师参阅。本刊的办刊宗旨是:面向临床,面向基层,注重实用,鼎力于提高我国临床神经科医师的专业理论及诊疗水平。一、本刊设有专家论坛、述评、论著、学术交流、专题笔谈、综述、讲座、临床病理(例)讨论、教学园地、问题解答、临床研究、病例报告、误诊误治、技术改进等栏目,接受全国各地来稿。二、来稿请用Word排版,文中的外文字母或日文假名(包括参考文献)须打印清楚,并核对无误。文中的数据及统计学处理应仔细核对,确保无误。文中插图请用电脑制作,注字清晰,每图大小不超过12 cm×12 cm,黑白照片对比要清晰,彩色图片应制作精细,并用箭头指明所要说明的部位,在图的下面须注明图题、注解。医学名词以人民卫生出版社编的《英汉医学词汇》为准。简化字按我国《简化字总表》的规定。度量衡按法定计量单位符号表示。

关键词： 《中国神经精神疾病杂志》   广东省   神经病学   中国科学技术信息研究所   中国科学引文数据库  

摘要： 由国家教育部主管、中山大学主办的《中国神经精神疾病杂志》创刊于1975年,是国内神经病学、精神病学领域内具有重要影响力的专业学术性核心期刊,被引频次及影响因子居临床医学期刊前列。我刊主要报道我国神经内科、神经外科、精神科临床和基础研究的新成果,介绍相关领域研究的新进展,推广先进的诊疗技术,组织专题学术讨论和召开全国性学术会议。辟有包括专家论坛、论著、短著述、研究简报、临床荟萃、讲座、综述、疑难病例讨论等诸多栏目,全面、实时地反映最新的学术思想和临床经验,其从基础到临床的广阔领域给致力于神经科学发展的研究者们提供了博大的舞台。

关键词： Tuberculosis   Tuberculosis spondylitis   Pott's disease   Kyphotic deformity   Anterior decompression  

摘要： INTRODUCTION: Tuberculosis spondylitis or Pott's disease is the most common destructive form of skeletal tuberculosis. The most commonly affected site is the thoracolumbar vertebra. Once invading the adjacent structures of the vertebrae and intervertebral discs ultimately form an abscess causing spinal cord compression, vertebral collapse, and severe kyphotic deformity. PRESENTATION OF CASE: We present the first-ever case done in King Fand Military Medical Complex in Dhahran, Saudi Arabia, of an 18-year-old male diagnosed with tuberculosis spondylitis who was complaining of progressive upper back pain and lower limb weakness. Emergent anterior decompression with expandable cage, plates, and screws were done. The patient showed a smooth and rapid recovery and was discharged with improved lower limb power and sensations. DISCUSSION: Pott's disease can lead to progressive neurological deficits in which surgical decompression is indicated. Current surgical practice includes anterior or posterior decompression with or without fusion and/or instrumentation. CONCLUSION: Surgery with either anterior or posterior decompression should assure complete clearance of the lesion, correcting the kyphotic deformity that prevents disease progression. (C) 2019 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd.

摘要： 神经病学学科创建于1988年,经过30多年建设,目前已发展成为具有4个病区、150张开放床位、师资队伍强大、技术力量雄厚,在桂滇黔三省交界区具有较大影响力的优势特色学科,是省级重点学科、省级医药卫生重点学科和省级临床重点专科。学科现有医护人员近80人,有博士生导师1人,硕士生导师5人,教授5人(其中二级教授1人),博士、硕士17人,广西知名专家3人,自

关键词： neurological diseases   monkey research   needed therapies  

摘要： This report discusses how a number of currently incurable diseases might be treated by advances developed as the result of current ongoing research on monkeys. The diseases discussed include Parkinson's disease, amyotrophic lateral sclerosis, spinal cord injury, peripheral neuropathy, and stroke. Finally, the report discusses the devastating effect the animal rights movement and adverse publicity can have on basic neurobiological research on monkeys.

摘要： Background More than 80% of public-access defibrillation attempts do not result in sustained return of spontaneous circulation in patients who have had an out-of-hospital cardiac arrest (OHCA) and a shockable heart rhythm before arrival of emergency medical service (EMS) personnel. Neurological and survival outcomes in such patients have not been evaluated. We aimed to assess the neurological status and survival outcomes in such patients. Methods This is a retropective analysis of a cohort study from a prospective, nationwide, population-based registry of 1 299 784 patients who had an OHCA event between Jan 1, 2005, and Dec 31, 2015 in Japan. The primary outcome was favourable neurological outcome (Cerebral Performance Category of 1 or 2) at 30 days after the OHCA and the secondary outcome was survival at 30 days following the OHCA. This study is registered with the University Hospital Medical Information Network Clinical Trials Registry, UMIN000009918. Findings We identified 28 019 patients with bystander-witnessed OHCA and shockable heart rhythm who had received CPR from a bystander. Of these, 2242 (8.0%) patients did not achieve return of spontaneous circulation with CPR plus public-access defibrillation, and 25 087 (89.5%) patients did not achieve return of spontaneous circulation with CPR alone before EMS arrival. The proportion of patients with a favourable neurological outcome was significantly higher in those who received public-access defibrillation than those who did not (845 [37.7%] vs 5676 [22.6%];adjusted odds ratio [OR] after propensity score-matching, 1.45 [95% CI 1.24-1.69], p<0.0001). The proportion of patients who survived at 30 days after the OHCA was also significantly higher in those who received public-access defibrillation than those who did not (987 [44.0%] vs 7976 [31.8%];adjusted OR after propensity score-matching, 1.31 [95% CI 1.13-1.52], p<0.0001). Interpretation Our findings support the benefits of public-access defibrillation and greate

关键词： Neurological disorder   HEXB   MBOAT7   Exome sequencing   Sandhoff disease   Pakistan  

摘要： Background: Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. Methods: We investigated the cause of disease in three Pakistani families in individuals with unexplained autosomal recessive neurological conditions, using both genome-wide SNP mapping and whole exome sequencing (WES) of affected individuals. Results: We identified a homozygous splice site variant (NM_000521:c.445 + 1G > T) in the hexosaminidase B (HEXB) gene confirming a diagnosis of Sandhoff disease (SD;type II GM2-gangliosidosis), an autosomal recessive lysosomal storage disorder caused by deficiency of hexosaminidases in a single family. In two further unrelated families, we identified a homozygous frameshift variant (NM_024298.3:c.758_778del;***253_Ala259del) in membrane-bound O-acyltransferase family member 7 (MBOAT7) as the likely cause of disease. MBOAT7 gene variants have recently been identified as a cause of intellectual disability (ID), seizures and autistic features. Conclusions: We identified two metabolic disorders of lipid biosynthesis within three Pakistani families presenting with undiagnosed neurodevelopmental conditions. These findings enabled an accurate neurological disease diagnosis to be provided for these families, facilitating disease management and genetic counselling within this population. This study consolidates variation within MBOAT7 as a cause of neurodevelopmental disorder, broadens knowledge of the clinical outcomes associated with MBOAT7-related disorder, and confirms the likely presence of a regionally prevalent founder variant (c.758_778del;***253_Ala259del) in Pakistan.

关键词： AlphaScreen   In-cell western blot   LRRTM   Neurexin   Synapse   Adhesion   Inhibitor assay   Neurological disorders  

摘要： Synaptic adhesion molecules, including presynaptic neurexins (NRXNs) and post-synaptic leucine-rich repeat transmembrane (LRRTM) proteins are important for development and maintenance of brain neuronal networks. NRXNs are probably the best characterized synaptic adhesion molecules, and one of the major presynaptic organizer proteins. The LRRTMs were found as ligands for NRXNs. Many of the synaptic adhesion proteins have been linked to neurological cognitive disorders, such as schizophrenia and autism spectrum disorders, making them targets of interest for both biological studies, and towards drug development. Therefore, we decided to develop a screening method to target the adhesion proteins, here the LRRTM-NRXN interaction, to find small molecule probes for further studies in cellular settings. To our knowledge, no potent small molecule compounds against the neuronal synaptic adhesion proteins are available. We utilized the AlphaScreen technology, and developed an assay targeting the NRXN-LRRTM2 interaction. We carried out screening of 2000 compounds and identified hits with moderate IC50-values. We also established an orthogonal in-cell Western blot assay to validate hits. This paves way for future development of specific high affinity compounds by further high throughput screening of larger compound libraries using the methods established here. The method could also be applied to screening other NRXN-ligand interactions.

关键词： bundle   outcome   recovery   rehabilitation   spinal cord injury  

摘要： Spinal cord injury (SCI) is a major cause of severe disability. This study aims to assess the effectiveness of a quality improvement program on neurological recovery after SCI. Before-after study during two phases was done in one intensive care unit in a university hospital. The quality improvement project comprised protective mechanical ventilation, early tracheostomy in anatomical injury above the sixth cervical vertebra, early enteral nutrition, early mobilization, and active perineal care in adult SCI patients. The primary endpoint was the difference between the American Spinal Injury Association (ASIA) motor score between discharge and intensive care unit (ICU) admission (Delta ASIA). Fifty-seven and 60 patients were included in the control and in the intervention period respectively. The ASIA motor score upon ICU admission was 16 (7-37) before and 11 (2-30) after the implementation (p = 0.30). The implementation phase was associated with lower tidal volumes (p < 0.001), higher positive end-expiratory pressure (p < 0.001), earlier tracheostomy (p = 0.01), earlier enteral nutrition initiation (p < 0.05), earlier mobilization (p < 0.05), and more active perineal care (p < 0.05). The Delta ASIA was +16 [4-32] after versus +6 [0-14] before the intervention (p < 0.05). After adjustment for potential cofounders, the intervention phase was significantly associated with higher Delta ASIA (beta coefficient, 11.4;CI95 [1.9-21];p = 0.01) in multi-variable analysis. No secular time trend unrelated to the intervention was highlighted. One year after trauma, the Delta ASIA was higher in the intervention period than in the control period (+34 [15-60] vs. +11 [0-33];p < 0.05). After adjustment on potential confounders, an early in-ICU rehabilitation program in SCI patients was associated with higher neurological score upon ICU discharge.