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find Author "廖建湘" 8 results
  • KRAS 基因新生突变(c.101C>G)致 Cardio-facio-cutaneous 综合征一例

    Release date:2019-11-14 10:46 Export PDF Favorites Scan
  • 局灶性皮质发育不良与儿童孤独症谱系障碍的相关性研究进展

    结节性硬化症(Tuberous sclerosis complex,TSC)是一种常染色体显性遗传疾病,已被证实与儿童局灶性脑皮质发育(Focal cortical dysplasia,FCD)和孤独症谱系障碍(Autism spectrum disorder,ASD)的发病机理有关。作为研究 FCD 以及 ASD 的模型,许多文献中都提到了 TSC,但目前尚不清楚具体机制。文章对 TSC 与 FCD 和 TSC与 ASD 患儿之间的关系,以及FCD与 ASD 之间的联系,提出新的想法。

    Release date:2020-05-19 01:07 Export PDF Favorites Scan
  • 维生素 D 在生酮饮食治疗癫痫中的意义

    研究表明,维生素 D(Vitamin D,Vit D)在人类大脑和神经系统中扮演着重要角色。已有研究探索了 Vit D 在阿尔茨海默病、帕金森病、多发性硬化症、精神分裂症、情感障碍、认知衰退和癫痫等方面的作用,同时 Vit D 在神经系统中也起着神经营养、神经保护、神经传递等作用。研究证明,维生素 D 受体(Vitamin D receptor,VDR)普遍存在于神经元和神经胶质细胞乃至整个大脑、脊髓和周围神经系统中,故 Vit D 在神经系统中的作用从 VDR 也得到了证实。Vit D 在神经系统中的广泛作用提示了其在大脑中可能存在抗惊厥作用,而既往研究证明癫痫患者的 Vit D 水平普遍较低,且生酮饮食可能会进一步导致 Vit D 水平下降,因此,Vit D 的补充对于癫痫患儿以及生酮饮食治疗癫痫的疗效具有重要意义。

    Release date:2020-07-20 08:13 Export PDF Favorites Scan
  • 丙酮酸脱氢酶 E1α 亚基基因突变所致 Leigh 综合征的临床进展

    Leigh 综合征(Leigh syndrome,LS)是一种罕见的致死性亚急性脑病,是儿童线粒体病的常见表型,核基因及线粒体基因上多种基因位点突变均可导致这一罕见病,其中丙酮酸脱氢酶 E1α 亚基(PDHA1)基因所致的 LS(PDH-LS)约占比 10%,主要临床表现为肌无力、共济失调、神经退行性障碍等,但却缺乏特异性。该疾病预后较差,目前尚无特异性治疗方案,早期诊断及干预有助于改善 PDH-LS 预后,除了传统的药物治疗及改善营养状态外,生酮饮食亦是一种有益的治疗选择,因此早期明确诊断及相关基因型改变具有重大意义。LS 临床表现多变且缺乏一致的特异性,为早期诊断治疗带来了挑战。文章讨论了 PDH-LS 的临床表现,并总结了文献报道的 PDH-LS 患者的表现及有预警意义的表现,以期提高其早期诊断率和相关的治疗建议,希望能够对此类患者的诊治有所帮助。

    Release date:2020-09-04 03:06 Export PDF Favorites Scan
  • Efficacy and safety of ketogenic diet in tuberous sclerosis complex with epilepsy

    ObjectiveTuberous sclerosis complex (TSC) is a multiorgan disorder and mostly associated with intractable epilepsy. Now several individual reports suggest that epilepsy in children with TSC might benefit from a ketogenic diet (KD). We prospectively studied the curative effect of 14 children with the KD in the treatment of TSC with epilepsy. MethodsBetween 2008 and 2015, we enrolled 14 children with TSC and epilepsy who received KD treatment in Shenzhen Children's Hospital and followed up for at least three months.Outcome was measured by the change of seizure frequency before and after the KD in the use of anticonvusant drugs, adverse effects, and change in cognitive function. Results14 children aged 8 months to 7 years were included. 7/14 (50%) children had a > 50% reduction in seizure frequency at 3 months on the diet, 5/14 (36%) children had a seizure free response. 12/14 (86%) children with refractory epilepsy, 6/12 (50%) children had a > 50% reduction in seizure frequency, 2 children had reduced medications, one child did not use any antiepileptic drugs during KD. 6 of 12 children with developmental delays had cognitive function improvement. ConclusionsKD is a generally effective and safe therapy for TSC children with epilepsy, especially for refractory epilepsy. KD could reduce antiepileptic drugs, and also improve children's cognitive function.

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  • 生酮饮食疗法历史浅谈

    生酮饮食是一种脂肪高比例, 碳水化合物低比例, 蛋白质和其他营养素合适的配方饮食。不仅治疗癫痫, 近来治疗其他疾病也在探索中。生酮饮食的前身是断食治疗, 断食不是完全断绝食物和水, 只是减少热卡, 维持饮水。为了更长时间维持断食的疗效, 1921年美国梅奥诊所出现了生酮饮食疗法。现在约翰.霍普金斯医院领导着全球的生酮饮食治疗。2004年我国大陆生酮饮食疗法临床开始于深圳市儿童医院。中国古老的辟谷疗法, 目前主要用于西医医院以外的养生保健, 操作和西方的断食疗法非常类似, 辟谷大约在2 500多年前就开始存在了。

    Release date:2016-10-02 06:51 Export PDF Favorites Scan
  • Application of scalp electroencephalogram in treatment of refractory epilepsy with vagus nerve stimulation

    Electroencephalogram (EEG) has been an important tool for scientists to study epilepsy and evaluate the treatment of epilepsy for half a century, since epilepsy seizures are caused by the diffusion of excessive discharge of brain neurons. This paper reviews the clinical application of scalp EEG in the treatment of intractable epilepsy with vagus nerve stimulation (VNS) in the past 30 years. It mainly introduces the prediction of the therapeutic effect of VNS on intractable epilepsy based on EEG characteristics and the effect of VNS on EEG of patients with intractable epilepsy, and expounds some therapeutic mechanisms of VNS. For predicting the efficacy of VNS based on EEG characteristics, EEG characteristics such as epileptiform discharge, polarity of slow cortical potential changes, changes of EEG symmetry level and changes of EEG power spectrum are described. In view of the influence of VNS treatment on patients’ EEG characteristics, the change of epileptiform discharge, power spectrum, synchrony, brain network and amplitude of event-related potential P300 are described. Although no representative EEG markers have been identified for clinical promotion, this review paves the way for prospective studies of larger patient populations in the future to better apply EEG to the clinical treatment of VNS, and provides ideas for predicting VNS efficacy, assessing VNS efficacy, and understanding VNS treatment mechanisms, with broad medical and scientific implications.

    Release date:2020-10-20 05:56 Export PDF Favorites Scan
  • A preliminary investigation of adenoid hypertrophy in children with epilepsy

    Adenoid hypertrophy in children with epilepsy is rarely reported. This paper analyzes the clinical characteristics and incidence of adenoid hypertrophy in children with epilepsy.Methods The clinical data in children with epilepsy from December 2014 to April 2020 in Shenzhen Children's hospital were analyzed retrospectively.Results There were 449 cases diagnosed with adenoid hypertrophy (2.74%) in 16387 children with epilepsy. Among 449 cases of adenoid hypertrophy, 276 males (61.47%) and 173 females (38.53%). The age distribution was: 28 days to 1 year old, 8 cases (2%); 1-3 years old, 78 cases (17%); 3-6 years old 167 cases (37%); 6-12 years old, 153 cases (34%); 12-18 years old, 43 cases (10%). In 40 patients the IgG antibody were positive for EB capsid antigen in 25 (62.5%). In 56 cases of EB virus DNA were detected by fluorescence quantitative PCR, 25 (44.64%) positive, and 21/44 cases (47.72%) were positive by general nucleic acid detection of enteroviruses. The neutrophil reduction rate in peripheral blood was 42.19% in 673 tests, lymphocyteincreased in 292 (43.38%), platelet count increased in 307 (45.61%), abnormal in platelet hematocrit in 311 (46.21%); the mean volume of RBC was decreased in319 (47.39%) tests. The content of \begin{document}${\rm{HCO}_3^-} $\end{document} was reduced in 20/55 cases (36.36%). 25-hydroxy vitamin D was 33 (44.5%) decreased in 74 cases. The blood glucose was measured in 146 cases, 60 (41.09%) increased, total cholesterol was 31 (40.78%) increased in 76 cases, serum C peptide was 12 (29.26%) increased in 41 cases.Conclusion Adenoid hypertrophy in children with epilepsy may be related to infection, inflammation or immune disorder, which may cause nutritional, metabolic or internal environment disorders. Therefore, there is need of nursing and health education, transferring to specialized centers for diagnosis and treatment.

    Release date:2021-10-25 01:58 Export PDF Favorites Scan
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