关键词： 神经系统疾病   神经科医生   临床诊疗水平   中华医学会   神经病学   海南省三亚市   线下   经验交流  

摘要： 为搭建广大医生展现自我的平台,促进医生之间的经验交流,提高我国神经病学医生临床诊疗技能与医疗服务质量,让更多基层患者获益,2020年1月22日,由中华医学会《中华医学信息导报》主办,健康中国·步长致远心脑健康公益工程提供公益支持,吉林天成制药有限公司协办的“步步为赢·长护脑安”2020年神经系统疾病病例大赛总决赛通过“线上+线下”的形式在海南省三亚市召开。

关键词： 办刊宗旨   中国医师协会   神经疾病   神经解剖学   普及与提高   神经病学   专业期刊   神经内外科  

摘要： 《中国现代神经疾病杂志》为国家卫生健康委员会主管、中国医师协会主办的神经病学类专业期刊。办刊宗旨为:理论与实践相结合、普及与提高相结合,充分反映我国神经内外科临床科研工作重大进展,促进国内外学术交流。所设栏目包括述评、专论、论著、临床病理报告、应用神经解剖学、神经影像学、循证神经病学、流行病学调查研究、基础研究、临床研究、综述、临床医学图像、病例报告、临床病理(例)讨论、新技术新方法等。

关键词： Contrast enhanced ultrasound (CEUS)   Brain tumors   Spinal tumors   Intraoperative imaging   Neuro-oncology  

摘要： Contrast-enhanced ultrasound (CEUS) is a real-time, feasible technique. Both intraoperatively and bedside, it satisfies the need for serial assessment and easy performability. Initially employed in neuro-oncology, it has recently overcome this first application. We aimed to evaluate the literature and give a comprehensive view of its use in the fields listed below. A systematic review of all pertinent literature was performed via PubMed access according PRISMA P guidelines. Studies not involving human adults and not reporting original data were excluded. Cross-check of references of selected articles was performed to complete bibliographical research. 67 articles were then grouped by field of application: Oncology (26 articles) further subdivided in a) cranial tumors (23 articles) and b) spinal tumors (3 articles);Vascular (31 articles), divided in three sections: a) aneurysms, AVMs and AVFs surgery (6 articles), b) cerebral perfusion assessment and acute stroke patients management (15 articles), c) carotid plaques treatment (10 articles);TBI (2 articles);Pediatrics (4 articles);Peripheral nerve surgery (2 articles) and others (2 articles). CEUS versatility across the aforementioned areas was analyzed, underlining its complementarity to other well-settled imaging techniques. This review is focused on reporting CEUS advantages and disadvantages, suggesting a further broadening of the already numerous applications.

摘要： Highlights•Nutrition has a major role in shaping the human microbiota composition and function. •Nutraceuticals and probiotics are evidenced to benefit psychiatric and neurological disorders. •Vitamins, fish oils and probiotic supplementation are effective in treatment of neuropsychiatric disorders. •Vitamins, fish oils and probiotics have complex interaction with gut microbes. •These supplements exert benefits to the host via regulating the microbiome-brain-immune axis.

关键词： diabetes mellitus   growth retardation   hyperinsulinemic hypoglycemia   hypothyroidism   neurodegeneration   sensorineural deafness  

摘要： Background A number of inborn errors of metabolism caused by abnormal protein trafficking that lead to endoplasmic reticulum storage diseases (ERSD) have been defined in the last two decades. One such disorder involves biallelic mutations in the gene encoding endoplasmic reticulum resident co-chaperone DNAJC3 (P58(IPK)) that leads to diabetes in the second decade of life, in addition to multiple endocrine dysfunction and nervous system involvement. Objective The aim of this study was to define the natural history of this new form of diabetes, especially the course of abnormalities related to glucose metabolism. Methods Whole-exome and Sanger sequencing was used to detectDNAJC3defect in two patients. Detailed analysis of their clinical history as well as biochemical, neurological and radiological studies were carried out to deduce natural history of neurological and endocrine phenotype. Results DNAJC3defect led to beta-cell dysfunction causing hyperinsulinemichypoglycemia around 2 years of age in both patients, which evolved into diabetes with insulin deficiency in the second decade of life, probably due to beta cell loss. Endocrine phenotype involved severe early-onset growth failure due to growth hormone deficiency, and hypothyroidism of central origin. Neurological phenotype involved early onset sensorineural deafness discovered around 5 to 6 years, and neurodegeneration of central and peripheral nervous system in the first two decades of life. Conclusion Biallelic loss-of-function in the ER co-chaperone DNAJC3 leads to a new form of diabetes with early onset hyperinsulinemic hypoglycemia evolving into insulin deficiency as well as severe growth failure, hypothyroidism and diffuse neurodegeneration.

关键词： cyanide   antidote   neurons   methylene blue  

摘要： The aim of the present study was to determine whether methylene blue (MB) could directly oppose the neurological toxicity of a lethal cyanide (CN) intoxication. KCN, infused at the rate of 0.375 mg/kg/min intravenously, produced 100% lethality within 15 min in unanaesthetized rats (n = 12). MB at 10 (n = 5) or 20 mg/kg (n = 5), administered 3 min into CN infusion, allowed all animals to survive with no sequelae. No apnea and gasping were observed at 20 mg/kg MB (P < 0.001). The onset of coma was also significantly delayed and recovery from coma was shortened in a dose-dependent manner (median of 359 and 737 seconds, respectively, at 20 and 10 mg/kg). At 4 mg/kg MB (n = 5), all animals presented faster onset of coma and apnea and a longer period of recovery than at the highest doses (median 1344 seconds, P < 0.001). MB reversed NaCN-induced resting membrane potential depolarization and action potential depression in primary cultures of human fetal neurons intoxicated with CN. MB restored calcium homeostasis in the CN-intoxicated human SH-SY5Y neuroblastoma cell line. We conclude that MB mitigates the neuronal toxicity of CN in a dose-dependent manner, preventing the lethal depression of respiratory medullary neurons and fatal outcome.

关键词： Neuroimaging   MRI   PET   Connectivity   Translation  

摘要： Neuroimaging for dementia has made remarkable progress in recent years, shedding light on diagnostic subtypes of dementia, predicting prognosis and monitoring pathology. This review covers some updates in the understanding of dementia using structural imaging, positron emission tomography (PET), structural and functional connectivity, and using big data and artificial intelligence. Progress with neuroimaging methods allows neuropathology to be examined in vivo, providing a suite of biomarkers for understanding neurodegeneration and for application in clinical trials. In addition, we highlight quantitative susceptibility imaging as an exciting new technique that may prove to be a sensitive biomarker for a range of neurodegenerative diseases. There are challenges in translating novel imaging techniques to clinical practice, particularly in developing standard methodologies and overcoming regulatory issues. It is likely that clinicians will need to lead the way if these obstacles are to be overcome. Continued efforts applying neuroimaging to understand mechanisms of neurodegeneration and translating them to clinical practice will complete a revolution in neuroimaging.

关键词： Cardiac arrest   Utstein-style   Return of spontaneous circulation   Cardiopulmonary resuscitation   Outcome   Therapeutic hypothermia  

摘要： Objective: To identify predictors of mortality and neurological function in adult ICU patients recovering from cardiac arrest. Design: A prospective cohort multicenter study was carried out. Setting: Forty-six polyvalent ICUs. Patients: A total of 595 patients recovering from out-of-hospital cardiac arrest (OHCA, n = 285) or in-hospital cardiac arrest (IHCA, n = 310). Main outcome variables: Survival and recovery of neurological function. Results: The mean cardiopulmonary resuscitation time was 18 min (range 10-30). Moderate hypothermia was used in 197 patients, and 150 underwent percutaneous coronary intervention (PCI). Return of spontaneous circulation (ROSC) was achieved within 20 min in 370 patients. Variables associated to mortality (ICU and in-hospital) were age (odds ratio [OR] = 1.0, 95%CI 1.0-1.0 per year), non-cardiac origin of cardiac arrest (OR = 2.16, 95%CI 1.38-3.38;P = 0.001) and ROSC 20 min (OR = 3.07, 95%CI 1.97-4.78;P < 0.001), whereas PCI and the presence of shockable rhythm exhibited a protective effect. Favorable neurological outcome was associated to shockable rhythm, ROSC <20 min, and cardiac origin of arrest. Hypothermia did not affect survival or neurological outcome in the multivariate analysis. Conclusions: Age, non-cardiac origin of cardiac arrest and ROSC 20 min were predictors of mortality. In contrast, cardiac arrest of cardiac origin, ROSC <20 min, and defibrillable rhythms were associated to unfavorable neurological outcomes. (c) 2020 Elsevier Espana, S.L.U. y SEMICYUC. All rights reserved.

关键词： Glioblastoma   Therapy   Guidelines  

摘要： Purpose This is an update of the evidence-based guideline for management of newly diagnosed glioblastomas sponsored by the American Association of Neurological Surgeons (AANS) and Congress of Neurological Surgeons (CNS) initially published in 2008. The objective is to update evidence-based management of newly diagnosed glioblastomas over all commonly used diagnostic and treatment modalities in regularly encountered clinical situations. Methods A multidisciplinary writing group was assembled to create documents related to imaging, cytoreductive surgery, neuropathology, radiation therapy, chemotherapy and emerging developments. Questions from the prior set of guidelines, and new and modified questions were used to guide a search of the scientific literature since the last guideline search was completed in June 2005. Citations were screened, classified and used as evidence to create recommendations addressing the questions in a manner that was directly linked to this evidence. Results The sixteen writers produced 34 questions resulting in eight Level I recommendations, eleven Level II recommendations, and 27 Level II recommendations across all the topics. In some instances, insufficient data was available to answer all or part of a question and this is stated and explained. Conclusions This series of guidelines is based upon relevant evidence in the literature related to the management of newly diagnosed glioblastomas. They set a benchmark for the management of this disease while highlighting key areas of weakness in our knowledge and suggest directions for future basic and clinical research to improve evidence quality and recommendation strength.

关键词： Niemann-pick type C   Biomarkers   Lysosphingomyelin-509   Screening  

摘要： Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease if given early. Recently, three plasma screening biomarkers (PSBs) were developed [cholestane3 beta,5 alpha,6 beta triol (C-triol), 7-ketocholesterol (7-KC), and lysosphingomyelin-509 (LSM-509)], allowing a simpler and quite robust screening of patients suitable for genetic testing. The objective of our study was to evaluate practical utility and feasibility of large-scale PSB screening for NP-C in selected adult patients. Patients were prospectively enrolled if they showed, starting from 12 years of age, at least one of the three initial neuro-psychiatric manifestations described in NP-C: (1) gait disorder (cerebellar and/or dystonic);(2) cognitive decline with frontal lobe syndrome;(3) atypical psychosis. PSBs were measured in plasma of all patients and, if positive (LSM-509 and/or C-triol + 7-KC elevated), sequencing ofNPC1andNPC2genes was performed. A total of 251 patients [136 males, 115 females;median age 42.1 (range 12.2-85.6) years] were screened. Six patients had positive PSBs. Two were confirmed to have NP-C (0.8% diagnostic yield, both with all three PSBs highly increased, especially LSM-509). False-positive rate was 1.2%, which was identical if only considering LSM-509. By contrast, false-positive rates were 8.1% and 5.7% for 7-KC and C-triol, respectively. We showed that selecting patients with neurologic and/or psychiatric symptoms consistent with NP-C for large-scale PSB screening is a simple and valid strategy to identify new adult NP-C patients, and would probably lead to earlier diagnosis and treatment administration if widely applied.