A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia

We report a novel variant of DHDDS mutation in a patient with progressive adult-onset myoclonus ataxia. The mutation in our patient was different from previous reports of denovo mutations in DHDDS in 6 patients who showed tremor-like myoclonus and generalized epilepsy.     

基于CT灌注成像评估侧支循环在急性缺血性脑卒中取栓前后脑梗死进展及预后评估中的应用

目的探讨基于CT灌注成像(CTP)评估的侧支循环对急性前循环大动脉闭塞患者取栓前后脑梗死进展及临床预后的影响。方法回顾性分析浙江省人民医院神经内科自2018年5月至2019年9月收治的110例发病24 h以内的急性前循大动脉闭塞患者的资料。所有患者均完成取栓手术,采用区域性软脑膜侧支(rLMC)评分对四维CT血管造影(4D-CTA)上的全时相融合像(tMIP)进行侧支循环评估;根据CTP的核心脑梗死体积和术后1周内头颅MR的DWI影像结果,计算进展梗死体积;采用改良Rankin量表(mRS)评分评估患者术后3个月时预后情况。结果(1)侧支循环好组患者56例,侧支循环差组患者54例。年龄(OR=0.951,95%CI:0.910~0.993,P=0.023)、心功能不全(OR=0.116,95%CI:0.018~0.731,P=0.022)、基线空腹血糖(OR=0.788,95%CI:0.646~0.961,P=0.019)、觉醒性卒中(OR=0.093,95%CI:0.023~0.380,P=0.001)及颈内动脉段闭塞(OR=7.604,95%CI:2.650~21.821,P=0.000)是侧支循环的独立影响因素。(2)侧支循环评分(95%CI:-2.947~-1.474,P=0.000)、缺血半暗带体积(95%CI:0.065~0.126,P=0.000)、脑组织水肿评分(95%CI:2.952~7.600,P=0.000)、出血转化(95%CI:8.966~23.114,P=0.000)及24 h美国国立卫生研究院卒中量表(NIHSS)评分(95%CI:0.606~1.248,P=0.000)是进展梗死体积的独立影响因素。(3)预后良好组患者共59例,预后不良组患者共51例。出血转化(OR=0.019,95%CI:0.001~0.275,P=0.004)及进展梗死体积(OR=0.824,95%CI:0.756~0.897,P=0.000)是急性前循环大动脉闭塞取栓患者远期预后的独立影响因素。结论基于4D-CTA的rLMC侧支循环评分对发病24 h内急性前循环大动脉闭塞取栓患者的进展梗死体积有良好的预测作用,并可通过进展梗死体积进一步预测患者预后。     

亚低温联合丁基苯酞对溶栓时间窗外急性大脑中动脉闭塞患者预后的影响

目的 探讨亚低温（mild hypothermia,MHT）联合丁基苯酞（dl-3n-butyphthalide,NBP）对溶栓时间窗外 急性大脑中动脉闭塞（middle cerebral artery occlusion,MCAO）且出现进展性运动功能缺损（progressive motor deficit,PMD）患者的脑侧支循环和短期预后的影响。 方法 纳入溶栓时间窗外且合并PMD的急性MCAO患者,随机分为常规治疗组、MHT组和MHT+NBP 组。比较3组患者入院时基线资料、治疗14 d时Fugl-Meyer运动功能评分、美国国立卫生研究院卒中量 表（National Institute of Health Stroke Scale,NIHSS）评分、出血性转化以及经颅多普勒超声检测的脑 侧支循环通路开放情况、患侧与健侧大脑前动脉（anterior cerebral artery,ACA）收缩期峰值流速比 值（RVaca）和大脑后动脉（posterior cerebral artery,PCA）收缩期峰值流速比值（RVpca）;治疗90 d时 改良Rankin量表（modified Rankin scale,mRS）评分、90 d死亡率。 结果 入组本研究且完成随访的患者共69例,其中常规治疗组23例,MHT组21例,MHT+NBP组25 例。MHT+NBP组14 d Fugl-Meyer运动功能评分、前交通动脉通路开放、后交通动脉通路开放、RVaca及 RVpca均高于MHT组和常规治疗组,差异有统计学意义（均P <0.05）。MHT+NBP组14 d NIHSS评分、90 d mRS评分低于MHT组和常规治疗组,差异有统计学意义（均P <0.05）。MHT+NBP组14 d出血性转化低 于常规治疗组（P <0.05）。MHT组14 d RVaca、RVpca及90 d mRS评分低于常规治疗组（均P <0.05）。3组 90 d死亡率的差异无统计学意义。 结论 MHT联合NBP治疗可以改善溶栓时间窗外急性MCAO且出现PMD患者的脑侧支循环,并改善患 者的短期预后。     

颈动脉颅外段狭窄和斑块对脑梗死患者病情进展的影响

目的探讨脑梗死病情进展与颈动脉颅外段狭窄和斑块的关系,为早期采取积极的预防和治疗,降低脑梗死患者病变加重造成的致残率及致死率。方法对我院脑病科2015—2016年收治的92例脑梗死患者以进展性标准分为病情进展组(58例)和病情无进展组(34例),均行高分辨率磁共振成像(HRMRI)检查,通过2组患者HRMRI检测结果对比,揭示斑块的形态学特征及管腔狭窄程度与脑梗死病变加重有无关系。结果2组间斑块内出血、脂质核坏死的发生率无显著性差异(P0.05),病情进展组纤维帽较薄或破裂的发生率则明显高于病情无进展组(P0.05);轻度动脉狭窄率和中度动脉狭窄率组间比较无差异(P0.05),病情进展组重度颈动脉管腔狭窄率高于病情无进展组(P0.05)。结论颈动脉重度狭窄和斑块不稳定性是脑梗死病变加重的重要病理基础,可作为进展性脑梗死的预测指标之一。     

Understanding falls in progressive supranuclear palsy

IntroductionProgressive supranuclear palsy (PSP) is characterized by frequent falls which worsen with disease progression, causing substantial morbidity and mortality. Few studies have investigated which factors contribute to falls in PSP, and all have involved few participants, thus lacking necessary statistical power. The aim of this study was to identify clinical parameters most significantly associated with increasing falls in PSP, using the largest sample of patients to date.MethodsComprehensive clinical data were collected from 339 not demented PSP patients meeting the NINDS-SPSP criteria, who were divided into two groups – Infrequent Fallers (IF; n = 118) with rare falls, and Frequent Fallers (FF; n = 221) who fell occasionally to multiple times a day. Of 198 clinical parameters, we hypothesized 38 to be correlated with an increasing risk of falls. These 38 parameters were analyzed via univariate regression analysis to determine the strength of their association with fall frequency. Unit odds ratios identified the magnitude with which each parameter resulted in an increasing risk of falls.ResultsTwenty-five of 38 parameters analyzed were significantly associated with fall frequency based on univariate analysis. Symptom duration, clinical measures of disease severity, and several motoric and oculomotor clinical parameters were associated with FF. Examined cognitive parameters and slowing of vertical saccades were not.ConclusionsThe clinical parameters identified as associated with increased frequency of falls improve our understanding of why they occur and may help identify not demented PSP patients at risk for increasing falls.     

依达拉奉联合奥扎格雷钠治疗进展性脑梗死临床观察

目的 观察依达拉奉联合奥扎格雷钠治疗进展性脑梗死的疗效和安全性.方法 符合进展性脑梗死标准的82例患者随机分为观察组42例和对照组40例.对照组患者给予常规治疗+奥扎格雷钠;观察组给予常规治疗+奥扎格雷钠+依达拉奉.2组疗程均为21 d.2组患者于治疗前后进行NIHSS神经功能缺损评分、日常生活能力(ADL)评分和hs-CRP、D-二聚体的测定.结果 治疗21 d后,观察组痊愈率和总有效率均显著高于对照组(χ2=4.0397,4.8308,P均＜0.05).在hs-CRP、D-二聚体、NIHSS评分、ADL评分四项指标方面,治疗后观察组均显著优于对照组(t=2.4486,2.5964,2.1936,7.0401,P＜0.05).结论 依达拉奉与奥扎格雷钠联合治疗进展性脑梗死有协同效果,优于奥扎格雷钠单药治疗,无明显不良反应.     

Progressive supranuclear palsy: Advances in diagnosis and management

Progressive supranuclear palsy (PSP) is a complex clinicopathologic disease with no current cure or disease modulating therapies that can only be definitively confirmed at autopsy. Growing understanding of the phenotypic diversity of PSP has led to expanded clinical criteria and new insights into etiopathogenesis that coupled with improved in vivo biomarkers makes increased access to current clinical trials possible. Current standard-of-care treatment of PSP is multidisciplinary, supportive and symptomatic, and several trials of potentially disease modulating agents have already been completed with disappointing results. Current ongoing clinical trials target the abnormal aggregation of tau through a variety of mechanisms including immunotherapy and gene therapy offer a more direct method of treatment. Here we review PSP clinicopathologic correlations, in vivo biomarkers including MRI, PET, and CSF biomarkers. We additionally review current pharmacologic and non-pharmacologic methods of treatment, prior and ongoing clinical trials in PSP. Newly expanded clinical criteria and improved specific biomarkers will aid in identifying patients with PSP earlier and more accurately and expand access to these potentially beneficial clinical trials.     

Ventilatory and heart rate chemosensitivity in track-and-field athletes

Summary Fifty-four male track-and-field athletes and 18 male non-athletes were examined by isocapnic progressive hypoxia and CO₂ rebreathing tests. Ventilatory and heart rate (HR) responses to hypoxia were analysed by a hyperbolic relationship and the ventilatory response to hypercapnia by a linear regression. The results showed that ventilatory sensitivity during hypoxia was significantly attenuated in the long-distance runners and sprinters compared to the non-athletes. Although heart rate sensitivity during hypoxia in none of the athletes showed a significant difference compared to that of the non-athletes, baseline HR in the long-distance runners was significantly lower than that of the non-athletes. None of the athletes showed significant differences in ventilatory sensitivity during hypercapnia compared to the non-athletes.