关键词： Cerebrovascular disorders   Neurodegenerative diseases  

摘要： Carboxy-terminus of Hsc70-interacting protein (CHIP) functions both as a molecular co-chaperone and ubiquitin E3 ligase playing a critical role in modulating the degradation of numerous chaperone-bound proteins. To date, it has been implicated in the regulation of numerous biological functions, including misfolded-protein refolding, autophagy, immunity, and necroptosis. Moreover, the ubiquitous expression of CHIP in the central nervous system suggests that it may be implicated in a wide range of functions in neurological diseases. Several recent studies of our laboratory and other groups have highlighted the beneficial role of CHIP in the pathogenesis of several neurological diseases. The objective of this review is to discuss the possible molecular mechanisms that contribute to the pathogenesis of neurological diseases in which CHIP has a pivotal role, such as stroke, intracerebral hemorrhage, Alzheimer's disease, Parkinson's disease, and polyglutamine diseases;furthermore, CHIP mutations could also cause neurodegenerative diseases. Based on the available literature, CHIP overexpression could serve as a promising therapeutic target for several neurological diseases.

关键词： Alternating hemiplegia of childhood   Non-paroxysmal disability index   GMFCS  

摘要： Background Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include structures controling autonomic, gastrointestinal, gut motility and GABAergic functions. We aimed to investigate, in a cohort of 44 consecutive AHC patients, two hypotheses: 1) AHC patients frequently manifest gastrointestinal, particularly motility, problems. 2) These problems are often severe and their severity correlates with neurological impairments. Results 41/44 (93%) exhibited gastrointestinal symptoms requiring medical attention. For these 41 patients, symptoms included constipation (66%), swallowing problems (63%), vomiting (63%), anorexia (46%), diarrhea (44%), nausea (37%), and abdominal pain (22%). Symptoms indicative of dysmotility occurred in 33 (80%). The most common diagnoses were oropharyngeal dysphagia (63%) and gastroesophageal reflux (63%). 16 (39%) required gastrostomy and two fundoplication. Severity of gastrointestinal symptoms correlated with non-paroxysmal neurological disability index, Gross Motor Function Classification System scores, and with the presence/absence of non-gastrointestinal autonomic dysfunction (p = 0.031, 0.043, Spearman correlations and 0.0166 Cramer's V, respectively) but not with the paroxysmal disability index (p = 0.408). Conclusions Most AHC patients have gastrointestinal problems. These are usually severe, most commonly are indicative of dysmotility, often require surgical therapies, and their severity correlates with that of non-paroxysmal CNS manifestations. Our findings should help in management-anticipatory guidance of AHC patients. Furthermore, they are consistent with current understandings of the pathophysiology of AHC and of gastrointestinal dysmotility, both of which involve autonomic and GABAergic dysfunction.

关键词： Acute ischemic stroke   Asymmetrical prominent cortical vein sign   Intracranial arterial stenosis or occlusion   Susceptibility-weighted imaging   Hypoperfusion   Early neurological deterioration  

摘要： Background Susceptibility weighted imaging (SWI) provides an approximate assessment of tissue perfusion and shows prominent hypointense cortical veins in the ischemic territory because of the increased concentration of deoxyhemoglobin. We aimed to evaluate whether asymmetrical prominent cortical vein sign (APCVS) on SWI can predict early neurological deterioration (END) in acute ischemic stroke patients with severe intracranial arterial stenosis or occlusion (SIASO). Methods One hundred and nine acute ischemic stroke patients with SIASO who underwent SWI were retrospectively recruited. END was defined as an increase in the National Institutes of Health Stroke Scale score >= 2 points despite standard treatment in the first 72 h after admission. The APCVS was defined as more and/or large vessels with greater signal loss than those in the opposite hemisphere on SWI. Results Thirty out of the 109 (27.5%) patients developed END. Sixty (55.0%) patients presented with APCVS on SWI. APCVS occurred in 24 (80%) patients with END, whereas it only occurred in 36 (45.6%) patients without END (P = 0.001). Patients with APCVS were more likely to have END (40.0%, vs. 12.2%,P = 0.001) than those without END. Multivariate logistic regression indicated that APCVS (OR = 4.349, 95% C.I. = 1.580-11.970,P = 0.004) was a significant predictor of END in acute ischemic stroke patients with SIASO, adjusted for previous stroke history and acute infarct volume. Conclusions In acute ischemic stroke patients with SIASO, the APCVS might be a useful neuroimaging marker for predicting END, which suggests the importance of evaluation of perfusion status.

关键词： 以问题为基础的学习   医学教育   神经病学   问卷调查  

摘要： 目的编制神经病学课程PBL教学质量评估问卷,并进行信度、效度检验。方法参考文献报道的评价体系框架,针对神经病学课程特点,设计PBL教学质量评估问卷。以参与神经病学课程PB L的临床医学生为对象,实施问卷调查;检验问卷重测信度与内部一致性信度;使用相关分析和探索性因子分析来评估问卷效度。结果编制的神经病学课程PBL教学质量评估问卷包含“教案质量评估”“教学方式评估”“教学质量评估”3个一级指标,共包含6个二级指标、25个三级指标。问卷相关系数p=0.990(P<0.01),表明重测信度良好;克龙巴赫α系数为0.901,达到内部一致性信度要求;内容效度相关系数为0.307~0.7(P<0.05),表明每个三级指标均与总分项有显著相关性,问卷项设计良好;使用3个一级指标做公因子进行探索性因子分析,评估结构效度且提示问卷优化方向。结论该问卷具有良好的信度和效度,可作为科学评价神经病学PBL教学效果的工具,也为未来进一步研究提供了优化方向。

摘要： BACKGROUND CONTEXTAcute spinal cord injury (ASCI) is still having substantial morbidity and mortality despite of advanced therapeutics. Major obstacles are paucity of monitoring tools or biomarkers for severity determination, recovery and prognostication. A prospective case control pilot study with serum 1H NMR spectroscopic metabolic profiling was carried out to evaluate metabolites perturbations and its relationship with recovery and to see role of stem cells in facilitating neurological recovery. PURPOSEA pilot study with serum 1H NMR spectroscopic metabolic profiling was carried out to evaluate metabolites perturbations and its relationship with recovery and to see role of stem cells in facilitating neurological recovery. STUDY DESIGN/SETTINGA prospective case control pilot study was conducted in the spinal cord injury (SCI) unit of the Department of Orthopaedic Surgery in collaboration with the Department of Neurology, Department of Biochemistry, King George's Medical University (KGMU), Lucknow and Department of CBMR, Sanjay Gandhi Post Graduate Institute of Medical Science (SGPGIMS), Lucknow from December 2012 to July 2018. PATIENT SAMPLEA total of 135 subjects were enrolled in the study. OUTCOME MEASURESNMR data of serum and urine samples were quantified and subjected to multivariate analysis using supervised OSC-PCA followed by OPLS-DA was performed in the full study. This finding was further validated in the VIP scores. METHODSA prospective case control pilot study total of 135 subjects were enrolled in the study; 65ASCI subjects, divided into two groups. Fixation alone (FA, n= 34). Fixation with stem cells therapy (FST, n= 31). Seventy healthy subjects (HCs) were enrolled. Serum and urine samples were collected at admission (baseline), sixth week, third month and after sixth month (follow-up). RESULTSGender analysis revealed that 103 out of 135 participants were male. The age group of 18 to 30 years was found most prone to SCI. Fall from height and road tr

关键词： 神经科医生   神经系统疾病   健康促进   神经病学   基础应用研究   诊断和治疗   申请  

摘要： 为进一步推动我国神经病学临床与基础应用研究,提高神经系统疾病诊断和治疗水平,造福广大神经系统疾病患者,由中国健康促进基金会发起、卫材(中国)药业有限公司捐助的“神经病学青年创新基金项目”于2020年6月正式启动。欢迎广大神经科医生申请。

摘要： BACKGROUND CONTEXTWhile neurological complications are known to occur following cervical fusions, few studies with sufficient power have quantified the difference in neurological outcomes as posterior cervical fusion (PCF) surgical invasiveness increases. PURPOSECompare longer vs shorter PCF complication rates. STUDY DESIGN/SETTINGRetrospective review of the New York State Statewide Planning and Research Cooperative System (SPARCS) database. PATIENT SAMPLEAll patients undergoing ≥2 level PCF. OUTCOME MEASURESNinety-day neurological or medical complications status post short-cervical (SC), long-cervical (LC), or long cervicothoracic (LCT). METHODSFrom the NYS Statewide Planning and Research Cooperative System (SPARCS) database, retrospective review of all patients who underwent ≥2 level PCF from 2009-13 with ≤ 90-day follow-up were identified and stratified by levels fused: 2-3 (SC), 4-8 (LC), and ≥ 9 (LCT). Data on demographics, hospital-related parameters, and 90-day neurological and other complications, readmissions, and revisions were collected. Regression analysis identified independent predictors of neurologic and overall complications. RESULTSA total of 6,981 patients were included (SC, n=2,964, LC, n=3,899, LCT, n=118). LC patients were older than SC and LCT (60.8 vs 58.2 and 56.1), while LCT patients were more often female (59.3% vs LC 42.1% and SC 44%) and had higher total charges ($187,996 vs LC $99,020 and SC $82,239) and LOS (12.4 vs 6.1 and 6.9 days), all p<0.001. LC had the highest C5-C7 nerve palsy and overall neurological complication rates compared to SC and LCT patients (3.3 vs 1.8 and 1.7%, p=0.001; 3.8 vs 2.3 and 2.5%, p<0.001). Adverse events of the phrenic and recurrent laryngeal nerve were comparable. Implant infection (0.2 vs 0.3 vs 3.4%), and total complication rates (20.3 vs 23.7 vs 42.4%) increased with the number levels fused SC, LC, and LCT respectively, p≤0.017. 90-day readmissions and revisions were comparable. Only LC was a predictor

摘要： BACKGROUND CONTEXTHyperlordotic (>20°) anterior interbody cages (HAI) may be utilized in anterior-posterior fusion (AP-F) in efforts to improve alignment. However, significant increase in segmental lordosis (SL) in HAI without superior articulating process resection (SAP) may result in foraminal stenosis and nerve root compression causing neurological deficits and radiculopathy. Additionally, HAI with SAP may increase SL without concomitant increase in lumbar lordosis (LL). PURPOSEAssess whether HAI without SAP in APF causes increased neurological complications. STUDY DESIGN/SETTINGSingle-center retrospective cohort study PATIENT SAMPLEA total of 158 patients undergoing single level APF were included, of which 73 had HAI placed and 85 had SAI placed. OUTCOME MEASURESOutcomes measures included radiographic analysis of pre- and postoperative LL and SL. Perioperative neurological complications were measured including new radiculopathy, iatrogenic motor deficit and malpositioned instrumentation or compressive hematoma causing deficit. Returns to OR within 30 or 90 days were measured including return for foraminal decompression, instrumentation revision, hematoma evacuation, and irrigation and debridement. METHODSPatients undergoing primary, single level, APF without SAP resection over a 5-year period were included. Patients were classified as HAI or SAI. Outcomes measures included perioperative neurological complications, returns to OR, pre- and postoperative LL and SL. Demographic, procedural and perioperative outcomes were compared using independent samples t-tests and chi-squared analyses as appropriate with significance set at p<0.05. Risk factors for development of neurological complications were assessed with multivariate logistic regression. RESULTSA total of 158 patients (73 HAI, 85 SAI) were included. Age, gender, BMI and CCI were similar between groups. HAI without SAP resulted in significantly larger change in SL (9.84±5.84 vs 7.32±5.02 deg, p=0.001), without

关键词： Aging   Human health   Human genetics   CLEC3B   APOE  

摘要： A number of efforts are underway to better understand the role of genetic variation in successful aging and longevity. However, to date, only two genes have been consistently associated with longevity in humans: APOE and FOXO3, with the APOE epsilon 2 allele also protective against dementia. Recently, using an exome-wide SNP array approach, a missense variant CLEC3B c.316G>A (rs13963 p.S106G) was reported to associate with longevity in two independent cohorts of Japanese and Chinese participants. Interestingly, CLEC3B p.S106G is more frequent in Caucasian populations. Herein, we examined the frequency of CLEC3B p.S106G in a Caucasian series of 1,483 neurologically healthy individuals with a specific subset >80 years of age. Although our findings do not support an association between CLEC3B p.S106G and aging without neurological disease (p = .89), we confirmed the association between the APOE epsilon 2 allele and better survival without neurological disease (p = .001). Further assessment of healthy aged cohorts that retain intact neurological function will be critical to understand the etiology of neurodegenerative disease and the role of age at risk.