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find Author "邹丽萍" 11 results
  • 癫痫为首发症状的儿童甲状旁腺功能减退无需抗癫痫药物治疗

    Release date:2017-04-01 08:51 Export PDF Favorites Scan
  • 泛素蛋白酶体系统在癫痫机制的研究

    癫痫作为一种常见的儿童神经系统疾病对患者及其家庭造成了沉重的负担,目前精准、个体化的治疗还有相当的困难。泛素蛋白酶体系统的异常在癫痫的发病中具有一定的作用,对它们之间关系的总结有利于更准确的诊断和治疗。现从以下几个方面进行综述:①泛素蛋白酶体系统在伴有癫痫的特殊综合征中的作用;②基于动物实验的泛素蛋白酶体系统与癫痫相关性的研究。文章展示了临床以及基础研究中泛素蛋白酶体系统和癫痫之间的关联性。在临床表现上,泛素蛋白酶体系统的异常可以造成各种伴有癫痫的综合征,或作为癫痫发生的生物标记物;在发病机制上,其异常可以通过促进神经元的兴奋性或者凋亡进程造成癫痫的发生。表明泛素蛋白连接酶体系统异常是癫痫发生的原因之一。

    Release date:2017-04-01 08:51 Export PDF Favorites Scan
  • 转录组测序技术在癫痫中的应用

    转录组测序(RNA sequencing,RNA-seq)技术作为一种新兴的测序方法,利用高通量测序平台,对特定状态下的细胞内全部 RNA 进行测序分析,揭示不同物种的基因表达情况以及转录调控的规律。癫痫发病原因复杂,即使具有相同突变基因的癫痫患者,临床表现严重程度不同,提示存在额外的影响因素,RNA-seq 技术通过对差异表达基因的分析,在癫痫病因的研究中发挥重要的作用。文章主要介绍 RNA-seq 技术与其他测序技术的比较以及不同的 RNA-seq 技术平台特点,并叙述 RNA-seq 技术在癫痫中的应用。

    Release date:2018-03-20 04:09 Export PDF Favorites Scan
  • 婴儿痉挛症动物模型研究进展及其评价

    婴儿痉挛症(Infantile spasm,IS)是一种婴幼儿期难治性癫痫性脑病,临床表现是点头抱团样痉挛发作,脑电图(EEG)呈发作间期高度失律以及精神运动发育落后。大多数患儿促肾上腺皮质激素(Adrenocorticotropic Hormone,ACTH)和氨己烯酸(Vigabatrin,VGB)治疗有效,对普通抗癫痫药物效果不佳。婴儿痉挛症的病因有 200 多种,但至今发病机制不明。本文总结了 7 个有关婴儿痉挛症典型的动物模型。ARX 基因突变小鼠模型对雌二醇治疗有效,且提出了中间神经元致病学说。唐氏综合症小鼠模型由氨基丁酸 B 受体(GABABR)激动剂诱发痉挛,对托肽品 Q 治疗有效。N-甲基-D-天冬氨酸(NMDA)可以诱导大、小鼠痉挛发作,在产前给予倍他米松或是产前游泳模拟产前压力解释了 ACTH 治疗有效性的原理。多重打击大鼠模型模拟大脑皮层受损导致的癫痫,做出了耐药模型。河豚毒大鼠模型是唯一有 EEG 发作间期高度失律的模型,并且和“发作不同步学说”相一致。本文回顾学习 7 个婴儿痉挛症不同动物模型的特点和局限性,探讨婴儿痉挛症的发病机制,以及部分模型的新药研究。

    Release date:2019-03-21 11:04 Export PDF Favorites Scan
  • 婴儿期癫痫性痉挛的检查诊断干预原则及预后

    癫痫为神经科常见疾病, 而婴儿期为癫痫发作的高峰年龄。婴儿期癫痫中痉挛发作最为常见, 且病因复杂多样。随着遗传学研究的深入, 很多以往未明确病因的婴儿期癫痫性痉挛可能为遗传因素所致, 且可能为皮层起源, 不同的遗传背景提示不同的治疗方案和预后。结合《2015年国际抗癫痫联盟关于婴儿期癫痫管理推荐共识——ILAE儿科委员会协作组报告》及我国的实际情况, 通过回顾文献提出婴儿期癫痫性痉挛的检查诊断、干预原则及预后, 希望对临床医生的工作提供帮助, 从而提高婴儿期癫痫的诊治水平, 更好地改善预后。促肾上腺皮质激素(Adreno cortico tropic hormone, ACTH)大剂量与小剂量应用均有比较良好的治疗效果。ACTH治疗后短时间内的发作控制对于患儿的精神运动发育有利。结节性硬化症患儿的癫痫性痉挛, 氨己烯酸表现出较好的治疗效果。托吡酯对于癫痫控制有一定的效果, 而其他抗癫痫药物、生酮饮食、手术治疗的效果仍不明确。对于代谢性病因所致的癫痫性痉挛, 明确病因非常重要; 结合具体病因采取相应治疗方案即可。不同因素所致婴儿期癫痫性痉挛提示不同的治疗方案。早期全面的筛查明确病因对于指导治疗具有非常重要的意义。在药物选择上, 临床医生一方面应考虑到病因的个体化差异; 另一方面应关注治疗的及时有效性, 从而保证患儿发作的控制及精神运动的发育

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  • SPTAN1基因变异所致早发性癫痫性脑病一例并文献复习

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  • Effects of COVID-19 pandemic on patients with infantile epileptic spasms syndrome and their parents

    ObjectiveTo assess the effects of the Coronavirus disease 2019 (COVID-19) epidemic on patients with infantile epileptic spasms syndrome and their parents through an online questionnaire survey.MethodsThis study was a cross-sectional study conducted from May to June 2022. The questionnaire focused on seizure attacks, medical visits, and the mental health assessment of parents. ResultsA total of 67 patients with infantile epileptic spasms syndrome were included in this study. During the epidemic, 25.37% of the patients experienced increased spasms, and 73.13% of the patients had limited commercial availability of anti-seizure medications, mainly vigabatrin and clobazam. All patients had difficulty seeking medical services, and about 73.13% of them used telemedicine service. In addition, 31.34% of parents felt anxious, and 73.14% had different degrees of depressive symptoms. ConclusionThe difficulty in seeking medical services, limited commercial availability of anti-seizure medications, and the anxiety and depressive states of parents during the COVID-19 pandemic aggravate the difficulty in management of patients with infantile epileptic spasms syndrome. Improvement of the health care system and medication management strategy, as well as reasonable use of telemedicine service, may help solve this problem.

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  • Application of exosomes in the diagnosis and treatment of epilepsy

    Epilepsy is a common neurological disease with complex etiology and various seizure forms. It can affect people of all ages. Although a variety of antiseizure medications are available, one-third of patients still have poor drug treatment. Therefore, better methods for the diagnosis and treatment of epilepsy are particularly important. Exosomes are extracellular vesicles with a diameter of 30 ~ 150 nm that have powerful intercellular information transmission functions and also play an important role in the central nervous system. Exosomes released by nerve cells in the local microenvironment can participate in nerve development and plasticity, regulate neuroinflammation, and reduce neuronal loss. Moreover, some proteins or micro ribonucleic acid (miRNA) in exosomes are highly correlated with epilepsy and are changed in epileptogenesis, so they play an important role in the prevention and early diagnosis of epilepsy. In addition, exosomes have better biocompatibility and lower immunogenicity. Its small size can effectively avoid the phagocytosis of mononuclear macrophages. Moreover, the proteins carried on its surface have a strong homing ability to target tissues or cells and can penetrate the blood-brain barrier to the intracranial, so exosomes have the advantage of natural drug delivery. Therefore, this study reviews the application of exosomes in epilepsy to improve the understanding of exosomes in scientific research and clinical workers.

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  • Effects of acid-base balance in the brain in epileptogenesis

    The acid-base balance of the brain is critical to the functioning of the nervous system. The mechanisms that maintain acid-base homeostasis in the brain are complex and regulated by a variety of transporter proteins and enzymes. Slight changes in acid-base balance can affect neuronal excitability and even lead to epilepsy. Epilepsy is a common neurological disease with complex pathogenesis and numerous causes. Drug therapy is still the main method, but the treatment effect is limited. Therefore, it is urgent to clarify the pathological mechanism of epilepsy and explore new treatment directions This study provides an overview of the transporter proteins (acid-sensing ion channel, Na+/H+ exchanger, Na+/HCO3- cotransporters, anion exchangers, carbonic anhydrases) and the regulation of acid-base balance in the lungs. This study also introduces how these transporters participate in the stable maintenance of brain acid-base balance and their influence in epileptogenesis from both basic and clinical aspects in detail, providing new targets for epilepsy treatment and intervention.

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  • Vigabatrin for seizures treatment in patients with tuberous sclerosis complex: an efficacy and safety study

    ObjectiveTo evaluate the efficacy, tolerability and safety of vigabatrin (VGB) for seizure treatment in patients with tuberous sclerosis complex (TSC). MethodsForty-one epilepsy patients with tuberous sclerosis complex, admitted from January 2015 to December 2015, were included in our study; they were treated with VGB with an initial dose of 20 mg/(kg·d), and a maintenance dose of 50~ 100 mg/(kg·d). Baseline seizure frequency were evaluated by the parents or the guardian, and investigated the efficacy, tolerability, adverse reactions and safety in 3 and 6 months after treatment, and compared with the baseline. The treatment outcomes were evaluated by seizure frequency as completely seizure free (100% seizure reduction), markedly effective (75%~99% seizure reduction), effective (50%~74% seizure reduction) and invalid ( < 50% seizure reduction). Adverse reactions were observed during treatment. ResultsThe completely seizure free rates after 3 and 6 months treatment were 51.2% and 57.9%; and the total effective rates (completely seizure free+markedly effective+effective) were 90.2% and 89.5%.During the 6 months, only one patients stopped VGB use because of the poor efficacy and the difficulties to buy this medicine. 14 patients appeared adverse reactions, including drowsiness, agitation, hyperactivity and myoclonus, which were transient and mild. No patients had clinically perceivable visual-field changes on clinical examination. ConclusionVGB is a effective treatment in TSC patients with epilepsy, and have a good security in short term.

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