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find Author "秦娜" 2 results
  • Value of long term videoelectroencephalography to instruct discontinuation of anti-epileptic drugs in patients with epilepsy

    ObjectiveTo explore the prognostic value of normal 24 hour video electroencephalography (VEEG) with different frequency on antiepileptic drugs (AEDs) withdrawal in cryptogenic epilepsy patients with three years seizure-free. MethodsA retrospective study was conducted in the Neurology outpatient and the Epilepsy Center of Xi Jing Hospital. The subject who had been seizure free more than 3 years were divided into continual normal twice group and once group according to the nomal frequence of 24 hour VEEG before discontinuation from January 2013 to December 2014, and then followed up to replase or to December 2015. The recurrence and cumulative recurrence rate of the two group after withdrawal AEDs were compared with chi-square or Fisher's exact test and Kaplan-Meier survival curve. A Cox proportional hazard model was used for multivariate analysis to identify the risk factors for seizure recurrence after univariate analysis. P value < 0.05 was considered significant, and all P values were two-tailed. Results95 epilepsy patients with cause unknown between 9 to 45 years old were recruited (63 in normal twice group and 32 in normal once group). The cumulated recurrence rates in continual two normal VEEG group vs one normal VEEG group were 4.8% vs 21.9% (P=0.028), 4.8% vs 25% (P=0.006) and 7.9% vs 25%(P=0.03) at 18 months, 24 months and endpoint following AEDs withdrawal and there was statistically difference between the two groups. Factors associated with increased risk were adolescent onset epilepsy (HR=2.404), history of withdrawal recurrence (HR=7.186) and abnormal VEEG (epileptic-form discharge) (HR=8.222) during or after withdrawal AEDs. The recurrence rate of each group in which abnormal VEEG vs unchanged VEEG during or after withdrawal AEDs was respectively 100% vs 4.92% (P=0.005), 80% vs 19.23%(P=0.009). ConclusionsContinual normal 24h VEEG twice before withdrawal AEDs had higher predicting value of seizure recurrence and it could guide physicians to make the withdrawal decision. Epileptic patients with adolescent onset epilepsy, history of seizure recurrence and abnormal VEEG (epileptic-form discharge) during or after withdrawal AEDs had high risk of replase, especially patients with the presence of VEEG abnormalities is associated with a high probability of seizures occurring. Discontinuate AEDs should be cautious.

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  • 基于美国医学遗传学和基因组学会指南的基因检测报告解读

    随着精准医学的进一步开展,基因检测如雨后春笋般涌现,但检测报告质量却良莠不齐,亟待标准来规范。2015年,美国医学遗传学和基因组学会(American College of Medical Genetics and Genomics,ACMG)发布了关于测序技术在临床上应用的专业标准和指南,希望能为变异数据评级提供一个相对科学的标准。但2016年,Amendola等对比了美国9个中心实验室的测序解读结果,发现ACMG指南在具体实施过程中仍存在许多问题。所有实验室均通过该指南进行变异结果的判断,但其评级的相符率仅有34%。而对于ACMG指南的理解不同,是导致变异等级判断结论不一致的主要原因。作为临床医生,基因检测报告的解读是不可或缺的基本功,不仅要向实验室提供准确和完整的临床信息,也需要了解及掌握该指南,知道如何准确使用基因检测提供的证据来进行后续的诊断和治疗决策。现将基于ACMG指南,对3例癫痫患者基因检测报告进行解读,期望能更加形象具体地阐释该指南,使更多的临床医生更好的理解及运用指南。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
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