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find Author "李军强" 2 results
  • 线粒体脑肌病的研究进展

    线粒体脑肌病是一类由线粒体基因或核基因突变引起的线粒体结构或功能损害,三磷酸腺苷(ATP)合成不足,导致中枢神经系统和肌肉组织等多系统功能障碍的疾病。目前缺乏确切的临床流行病学资料,诊断主要根据临床表现、头部磁共振成像(MRI)、肌肉组织活检及基因检测和生化结果及肌电图等。目前尚无特殊治疗方法,以对症治疗为主。由于线粒体脑肌病临床表现多样、发病机制复杂,常常被误诊为脑卒中、癫痫等疾病。本文旨在对近期线粒体脑肌病的研究进展作一综述,以提高对其认识水平,提高诊断率,降低误诊率,为线粒体脑肌病的临床诊治提供一个参考。

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  • Analysis of clinical characteristics, neuroimaging, diagnosis and treatment process of inpatients with juvenile myoclonic epilepsy

    ObjectiveTo explore the clinical characteristics, neuroimaging, diagnosis and treatment process of inpatients with Juvenile Myoclonic Epilepsy (JME).Methods83 inpatients with JME in the Epilepsy Center of Lanzhou University Second Hospital from January 2016 to August 2020 were analyzed retrospectively. Their clinical features, seizure types, inducing factors, MRI and EEG, first consultation hospital, reason for visit and drug treatment were summarized.ResultsAmong the 83 patients, there were 43 males and 40 females, with an average age of (18±5.6) years. 21 patients had family history of epilepsy or history of febrile convulsion. the average age of onset was 11.5 years old, which was earlier than those without family history and history of febrile convulsion (P<0.05). The results of cranial nuclear magnetic resonance examination were abnormal in 14 patients, including hippocampal sclerosis and local small cysts. The first symptom of 62.7% JME patients is myoclonic seizures, followed by tonic-clonic seizures, sleep deprivation was the most common inducing factor, and tonic-clonic seizures was the most common cause of treatment in JME patients, accounting for 78.3%. 80.7% of patients choose local primary hospitals for their first consultation, and there was a non-standard use of ASMs in treatment, and the seizure free rate of epilepsy after ASMs treatment was 6%, which was lower than that in provincial hospitals (P<0.05). 88% of JME inpatients can effectively control their seizures through monotherapy, among which valproic acid is the most commonly used monotherapy and combination therapy. The new oral ASMs lamotrigine and levetiracetam tablets were mostly used in female patients.ConclusionA family history of epilepsy and history of febrile convulsion may be associated with an earlier age of onset in patients with JME. Neuroimaging abnormalities can be found in a small number of patients with JME, including hippocampal sclerosis and local small cysts. Tonic-clonic seizures is the main treatment cause of JME patients, and most of them are first diagnosed in local hospitals, but the seizure free rate of epilepsy in local hospitals after ASMs treatment is low, so the training of epilepsy related knowledge for doctors in primary hospitals is helpful to the diagnosis of clinical JME and improve its control rate.

    Release date:2021-08-30 02:33 Export PDF Favorites Scan
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