Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy

Muscle carnitine deficiency usually results in a lipid storage myopathy, but more rarely, neuropathy occurs in this condition. We report herein a 29-year-old man with muscle carnitine deficiency who developed not only a lipid storage myopathy, but also a severe sensory neuropathy. Oral therapy with levo-carnitine (3 g per day) for 3 months produced a remarkable improvement of the myopathy and sensory neuropathy. Six months later, he remained in good condition under strict dietary control. This report emphasizes that severe neuropathy may occur in some patients with muscle carnitine deficiency, and highlights the need for the neurologist’s familiarity with those afflicted to achieve optimal clinical management.     

颞叶癫痫脑电图分析及病灶超微结构观察

目的 研究影像学检查无异常的颞叶癫痫患者,电生理异常与皮层棘波灶及海马超微病变的关系.方法 选择经CT或MRI检查未见异常的颞叶癫痫患者7例,术前做脑电图或24h视频脑电监测,术中在脑电监测下取颞叶大脑皮质棘波灶和海马组织,做电镜观察.结果 7例患者电生理检查均可见典型痫样放电.颞叶皮质痫灶和海马可见不同程度的神经元固缩,胶质细胞变性,胶质增生,突触数量及突触结构改变,血脑屏障破坏等改变.结论 影像学无异常的颞叶癫痫患者颞叶皮层痫灶和海马超微结构病理变化明显,特别是突触的变化,是导致癫痫患者脑电生理机能异常及癫痫反复自发性发作的形态学基础.     

Ullrich型先天性肌营养不良三例临床及病理特点

目的 探讨Ullrich型先天性肌营养不良(UCMD)患者的临床和病理特点.方法 收集并分析我院收治的3例UCMD、2例Duchenne型肌营养不良(DMD)和1例先天性肌营养不良1A型的临床和病理资料.全部患者均进行肌肉活体组织检查,并对标本行组织化学和免疫组织化学染色,其中2例UCMD和1例DMD患者的标本行免疫荧光染色.结果 UCMD患者均以新生儿肌张力低下为首发表现,其临床标志为近端关节挛缩和远端关节弹性过度.组织化学染色提示UCMD患者存在肌纤维发育不良伴结缔组织增生,坏死和变性不及DMD患者显著.抗Ⅵ型胶原抗体免疫组织化学染色显示3例UCMD患者中1例为完全缺失,2例仅为部分缺失.免疫荧光染色能更清晰地显示Ⅵ型胶原的部分性缺失.结论近端关节挛缩和远端关节弹性过度是UCMD的标志性临床特征.抗Ⅵ型胶原抗体的免疫组织化学染色是确诊UCMD的重要方法 .     

术中功能定位切除辅助运动区低级别胶质瘤

目的 探讨辅助运动区低级别胶质瘤的手术方法.方法 回顾性分析14例辅助运动区低级别胶质瘤患者的临床资料和随访结果.术前应用功能磁共振进行评价.应用术中超声确定解剖边界,在唤醒麻醉下应用皮质电刺激定位功能边界,根据解剖-功能边界切除肿瘤.评价患者术前、术后功能结果.结果 术后24h复查MRI显示肿瘤全切12例,大部切除2例.术后病理显示星形细胞瘤5例,少枝细胞瘤6例,少枝-星形细胞瘤3例.术后2例出现典型的辅助运动区综合征,3例出现部分辅助运动区综合征.随访12个月所有患者预后良好.结论 唤醒麻醉下应用术中皮质电刺激,确定肿瘤切除的功能边界.根据解剖-功能边界切除肿瘤,能够最大程度切除辅助运动区低级别胶质瘤,同时保护正常的运动功能.     

张家口市气象因素变化与急性脑卒中疾病的相关性研究

目的 探讨张家口市气象因素变化与急性脑卒中疾病的相关性。方法 收集2018年2月至2020年6月在该院神经内科住院的1 426例患者资料进行回顾性分析。收集患者人口学特征、生活方式、入院时季节及入院时气候信息。根据患者入住医院病因是否为脑卒中将其分为2组,已确诊患有脑卒中疾病者为脑卒中组,其他疾病患者为非脑卒中组。比较2组患者上述各因素,并采用多因素Logistic回归分析判断各因素对脑卒中发病的综合作用。结果 调查的1 426例患者中共有327例(22.92%)为脑卒中患者,多因素Logistic回归分析结果显示,患者年龄增长(OR=1.474,95%CI=1.073~2.025)、有吸烟史(OR=1.493,95%CI=1.033~2.159 )、有饮酒史(OR=1.530,95%CI=1.094~2.139)、秋季(OR=1.418,95%CI=1.006~1.998)、冬季(OR=1.464,95%CI=1.035~2.071)、月平均气温下降(OR=1.486,95%CI=1.016~2.173)、月平均气压升高(OR=1.442,95%CI=1.009~2.060)为脑卒中发病的危险因素(P<0.05)。结论 张家口市脑卒中患者在秋、冬季节高发,月平均气温下降及月平均气压升高为张家口市脑卒中患者发病的危险因素,另外年龄、吸烟史、饮酒史也与脑卒中的发生密切相关。     

Neuroprotective effect of diazoxide on brain injury induced by cerebral ischemia/reperfusion during deep hypothermia

OBJECT: The purpose of this study was to determine the effects of diazoxide on apoptosis and the relative mechanisms in a model of brain injury induced by cerebral ischemia/reperfusion (I/R) during deep hypothermia. METHODS: Three-week-old Sprague-Dawley male rats were randomly and equitably divided into sham-operated group, placebo-treated group and diazoxide-treated group respectively. Specific examination of the regional cerebral blood flow (rCBF) was measured in the three groups continuously during the operation by laser Doppler flowmetry. Terminal deoxynucleotidyl transferase mediated dUTP nick end labeling (TUNEL) was showed DNA fragmentation. The mRNA expressions of cytochrome c and full-length caspase-3 were determined by RT-PCR, while the protein expressions of cytochrome c and cleaved caspase-3 were determined by immunohistochemistry at 1 h, 6 h, 24 h, 72 h and 7 days after I/R, respectively. Cytosolic release of cytochrome c at 24 h after I/R was also confirmed by Western blot. RESULTS: rCBF was significantly decreased in both of placebo-treated and diazoxide-treated group just after ischemia in the time interval 0-5 min, and had no obvious changes in all the time intervals during the operation. Diazoxide preconditioning significantly decreased the percentage of TUNEL-positive staining cells. The mRNA expressions of cytochrome c and full-length caspase-3 in diazoxide-treated group were significantly decreased. In addition, diazoxide provided a significant reduction in the protein expressions of cytochrome c and cleaved caspase-3. CONCLUSION: These results suggested that the neuroprotective effects of diazoxide against cerebral I/R injury during deep hypothermia correlated with the reduction of DNA fragmentation, prevention of mitochondrial cytochrome c release and inhibition of caspase-3 activation.     

Antidepressant-like effects of the mixture of honokiol and magnolol from the barks of Magnolia officinalis in stressed rodents

Honokiol and magnolol are the main constituents simultaneously identified in the barks of Magnolia officinalis, which have been used in traditional Chinese medicine to treat a variety of mental disorders including depression. In the present study, we reported on the antidepressant-like effects of oral administration of the mixture of honokiol and magnolol in well-validated models of depression in rodents: forced swimming test (FST), tail suspension test (TST) and chronic mild stress (CMS) model. The mixture of honokiol and magnolol significantly decreased immobility time in the mouse FST and TST, and reversed CMS-induced reduction in sucrose consumption to prevent anhedonia in rats. However, this mixture was unable to affect ambulatory or rearing behavior in the mouse open-field test. CMS induced alterations in 5-hydroxytryptamine (5-HT) and its metabolite 5-hydroxyindoleacetic acid (5-HIAA) levels in various brain regions of rats. An increase in serum corticosterone concentrations and a reduction in platelet adenylyl cyclase (AC) activity were simultaneously found in the CMS rats. The mixture of honokiol and magnolol at 20 and 40 mg/kg significantly attenuated CMS-induced decreases of 5-HT levels in frontal cortex, hippocampus, striatum, hypothalamus and nucleus accumbens. And it markedly increased 5-HIAA levels in frontal cortex, striatum and nucleus accumbens at 40 mg/kg and in frontal cortex at 20 mg/kg in the CMS rats. A subsequent reduction in 5-HIAA/5-HT ratio was found in hippocampus and nucleus accumbens in the CMS rats receiving this mixture. Furthermore, the mixture of honokiol and magnolol reduced elevated corticosterone concentrations in serum to normalize the hypothalamic-pituitary-adrenal (HPA) hyperactivity in the CMS rats. It also reversed CMS-induced reduction in platelet AC activity, via upregulating the cyclic adenosine monophosphate (cAMP) pathway. These results suggested that the mixture of honokiol and magnolol possessed potent antidepressant-like properties in behaviors involved in normalization of biochemical abnormalities in brain 5-HT and 5-HIAA, serum corticosterone levels and platelet AC activity in the CMS rats. Our findings could provide a basis for examining directly the interaction of the serotonergic system, the HPA axis and AC-cAMP pathway underlying the link between depression and treatment with the mixture of honokiol and magnolol.     

Neural stem cells reduce brain injury after unilateral carotid ligation

Neonatal stroke presents with seizures and results in neurologic morbidity, including epilepsy, hemiparesis, and cognitive deficits. Stem cell-based therapy offers a possible therapeutic strategy for neonatal stroke. We developed an immature mouse model of stroke with acute seizures and ischemic brain injury. Postnatal day 12 CD1 mice received right-sided carotid ligation. Two or 7 days after ligation, mice received an intrastriatal injection of B5 embryonic stem cell-derived neural stem cells. Four weeks after ligation, hemispheric brain atrophy was measured. Pups receiving stem cells 2 days after ligation had less severe hemispheric brain atrophy compared with either noninjected or vehicle-injected ligated controls. Transplanted cells survived, but 3 out of 10 pups injected with stem cells developed local tumors. No difference in hemispheric brain atrophy was seen in mice injected with stem cells 7 days after ligation. Neural stem cells have the potential to ameliorate ischemic injury in the immature brain, although tumor development is a serious concern.     

氯氮平与利培酮对血清脂联素的影响

目的：研究氯氮平与利培酮对血清脂联素（Adi）等代谢的影响。方法：69例精神分裂症患者随机分为氯氮平组和利培酮组。治疗6周测定患者血清Adi,血脂,空腹血糖、胰岛素水平,计算胰岛素抵抗指数（IR）,测量身高、体质量,计算体质量指数（BMI）,并与36名正常对照者比较。结果：两患者组治疗后的血清Adi明显降低,氯氮平组血清Adi改变与BMI相关;利培酮组血清Adi改变与IR和利培酮剂量相关。结论：氯氮平与利培酮治疗精神分裂症患者可引起血清Adi降低,并与体质量增加、IR、血脂及利培酮剂量密切相关。     

尺神经复合肌肉动作电位改变在吉兰-巴雷综合征和慢性炎性脱髓鞘性周围神经病中的特点

目的：探讨节段和短段刺激尺神经后不同节段复合肌肉动作电位（CMAP）负波各参数变化及传导阻滞在吉兰-巴雷综合征（GBS）和慢性炎性脱髓鞘性周围神经病（CIDP）中的意义。方法：20例GBS和12例CIDP患者行尺神经5点分段刺激（腕、肘下、肘上、腋和Erb＇s点）和短段刺激，记录CMAP负波波幅、时程和面积的变化，分析各参数与临床肌力的相关性。结果：在GBS中，尺神经CMAP负波的时程、波幅和面积的变化在Erb’s点到腕部的各节段中差异很大；波幅与面积的衰减与临床肌力呈高度相关（r=-0.905和-0.907）；传导阻滞多见于近端和肘部，时程离散不明显。在CIDP中，各节段中的参数变化差异不大；远端波幅与临床肌力相关（r=0.586）；传导阻滞在各节段均可出现，常伴明显的时程延长。结论：GBS和CIDP中尺神经CMAP负波的波幅、面积和时程3个参数，可从电生理角度帮助我们认识脱髓鞘疾病的特点。