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find Keyword "肌张力" 9 results
  • 发作性运动诱发肌张力障碍一例

    Release date:2016-09-07 02:38 Export PDF Favorites Scan
  • Effect of Phorbol 12-Myristate 13-Acetate Induced Protein Kinase C Activation on the TorsinA Subcellular Distribution

    【摘要】 目的 探讨佛波酯激活的蛋白激酶C与扭转蛋白A在亚细胞成分中的表达之间的关系。 方法 采用免疫荧光法观察扭转蛋白A在原代培养的神经元和小鼠胚胎成纤维细胞(NIH 3T3细胞)中的分布。运用蛋白质印迹法分析蛋白激酶C和扭转蛋白A在细亚细胞成分中的表达。 结果 扭转蛋白A在NIH 3T3细胞中的表达类似于神经元。扭转蛋白A在细胞质溶质、膜成分中均有分布。佛波酯活化蛋白激酶C后并不引起扭转蛋白A在细胞质成分和膜成分中表达含量的变化。 结论 扭转蛋白A可能是膜相关蛋白,细胞氧化应激中扭转蛋白A表达上调和重分布变化不是由佛波酯诱导的蛋白激酶C活化途径来实现的。鉴于扭转蛋白A表达上调具有潜在的治疗原发性早发扭转性肌张力障碍的前景,影响其分布和表达的分子机制需要进一步研究。【Abstract】 Objective To investigate the relationship between the phorbol 12-myristate 13-acetate (PMA) activated protein kinase C (PKC) and the subcellular expression of TorsinA protein. Methods The expression of TorsinA in the primary cultured neurons and the NIH 3T3 cells was detected by immunofluorescence. The expression of PKC and TorsinA in subcellular fraction was analyzed by the western blotting. Results The expression pattern of TorsinA in NIH 3T3 cells was similar to neuron. PMA, an activator of PKC, did not promote the up-expression of TorsinA or redistribution in the subcellular fraction of NIH 3T3 cells. Conclusions TorsinA may be a membrane-associated protein. The up-regulation and redistribution of TorsinA is not caused by the pathway of the PMA activating PKC after cells insulted by oxidative stress. We should pay more attention on the mechanisms of the expression of TorsinA protein for the potential therapies to early-onset primary torsion dystonia (DYT1).

    Release date:2016-09-08 09:24 Export PDF Favorites Scan
  • 运动诱发性肌张力障碍的临床分析

    目的探讨发作性运动诱发肌张力障碍(PKD)的临床特征。 方法前瞻性地收集2014年9月-2015年3月视频脑电监测中心连续住院检查并诊断为PKD的23例患者,分析其临床表现、视频脑电图及其余相关辅助检查特点并随访6~12个月,观察其治疗反应等。 结果23例患者男16例,女7例,平均年龄14.8岁,平均病程5.2年,5例具有家族史;均完成了24~48 h不等的长时程视频脑电图监测,共记录到164次发作,发作表现为体位变化或受刺激时突发一侧或双侧肢体的肌张力障碍,持续数秒至1 min不等,发作时意识清楚。视频脑电图监测发现发作期无同步癫痫样放电,2例患者PRRT2基因检测阳性,长期随访对多种抗癫痫药物治疗均有效。 结论PKD是以运动诱发的发作性、短暂性肌张力障碍为特征的少见良性疾病,部分患者可查到致病基因,抗癫痫药物治疗预后较好,需临床诊治过程中给予重视。

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  • 动脉瘤破裂致蛛网膜下腔出血后全身肌痉挛康复一例

    Release date:2019-05-23 04:49 Export PDF Favorites Scan
  • 癫痫样发作疾病的研究进展

    癫痫样发作疾病的临床症状与癫痫发作相似,临床上易误诊为癫痫并给予不恰当的治疗,误诊的后果非常严重。因此,早期正确诊断显得尤为重要。临床上常见的癫痫样发作疾病包括:晕厥、震荡性抽搐、心因性非癫痫发作、睡眠障碍、短暂性脑缺血发作、面-臂肌张力障碍发作、发作性运动障碍等。文章就癫痫样发作疾病作一综述,为相关疾病的临床诊疗提供参考。

    Release date:2020-03-20 08:06 Export PDF Favorites Scan
  • 利妥昔单抗治疗富亮氨酸胶质瘤失活 1 蛋白抗体脑炎一例

    Release date:2021-07-22 06:28 Export PDF Favorites Scan
  • DNM1 gene pathogenic variation in 3 cases with early infantile epileptic encephalopathy-31 and Literature review

    ObjectiveTo explore the clinical, genetic and prognostic features of early infantile epileptic encephalopathy caused by DNM1 gene pathogenic variations.MethodsClinical phenotype, genotype and prognosis of 3 individuals with de novo variants in DNM1 gene were analyzed retrospectively. Through using “Dynamin-1” or “DNM1” as key words to search literature at database of China National Knowledge Infrastructure, Wanfang, PubMed and OMIM. Genotype-phenotype correlations were analyzed by analysis of variance (ANOVA).ResultAmong the 3 patients, 1 female and 2 males. 2 cases with epileptic spasm and 1 case with focal clonic seizure or secondary generalized tonic-clonic seizure were manifested with onset age from 2 to 17 months. De novo variants at NM_004408.4: c.415 G>A(P. Gly 139Arg) in 2 inviduals and NM_004408.4: c.545 C>A(P. Ala 182Asp)in 1 invidual of DNM1 gene were identified by gene testing. After follow-up at age of 2~3 years, all patients were presented with hypotonia, severe intellectual disability, non-verbal, non-ambulatory, drug-resistant epilepsy and feeding difficulties. 36 cases with pathogenic DNM1 variants were reported by far, totally 39 cases were included. Of the 39 patients, hypotonia were found to be independent of the locus of genetic variants, while those inviduals with variants in the GTPase and middle domains almost presented severe or profound intellectual disability and epilepsy. 31 patients diagnosed with epilepsy and complete clinical data were further analyzed, epileptic spasm was the most common types of seizure. Absent seizure was significantly more common in those patients with variants in the GTPase domains (P=0.02), compared to those patients with variants in the middle domains. No statistical differences were found in gender, onset age, other types of seizure and drug treatment response between variants in the GTPase and middle domains.ConclusionHypotonia, early onset epilepsy, severe intellectual and movement disability were the common features in patients with DMN1 related encephalopathy. Epileptic spasm was the most common types of seizure, no significant differences were found in the phenotype between the GTPase and middle domains expect for absent seizure. Our patients also presented with feeding difficulties.

    Release date:2021-04-25 09:50 Export PDF Favorites Scan
  • Prader-Willi 综合征患儿腹腔镜下睾丸下降固定术的麻醉管理一例

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  • DPAGT1基因变异相关先天性糖基化障碍一例并文献复习

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