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.
ObjectiveTo summarize clinical electrophysiological features and efficacy of some of Anti-epileptic drugs(AEDs) of Juvenile myoclonic epilepsy (JME). MethodsClinical electrophysiological information of 101 outpatients with JME observed at Xuanwu Hospital from Jul. 2001 to Sep. 2014 was retrospectively analyzed, including the seizure types, trigger factors, electroencephalogram. We followed some of these patients and compared the efficacy between different AEDs. Result According to different seizure types, there are four subtypes: Myoclonus (MJ) only 11.88%, MJ+generalized tonic-clonic seizure(GTCS) 75.24%, MJ+GTCS+Absence(Abs) 11.88%, MJ+Abs 1.00%. Patients with typical ictal generalized poly-spike and waves (PSW) or spike and waves (SW) or spikes account for 96.80%. And 75.00% of patients have no MJ and 91.80% have no GTCS with valproic acid monotherapy. 65.00% and 88.24% of patients were seizure free of MJ and GTCS recpectively. But the difference of efficacy between these two drugs have no statistically significance. Sleep deprivation was the primary trigger factors, accounting for 16.83%. ConclusionJME has clinical heterogeinety, clinicians should fully understand the whole condition of JME individual, including their clinical manifestation, EEG features, reaction to AEDs, trigger factors, habitual patterns and so on, in order to help making individualized therapy.
目的:旨在评价预注维库溴铵联合稀释依托咪酯减轻依托咪酯全麻诱导中肌阵挛的效果。方法:本研究为前瞻性、双盲、随机对照研究。80名ASA I-II级、年龄18～60岁、拟行胆囊切除术的全麻患者被随机分为4组:组1,预注维库溴铵0.01 mg/kg;组2,依托咪酯用生理盐水由2 mg/mL 稀释为1 mg/mL;组3,预注维库溴铵联合稀释依托咪酯;组4,生理盐水对照组+非稀释依托咪酯组。根据分组给予患者预注维库溴铵0.01 mg/kg或同等量的生理盐水,观察并询问患者有无呼吸困难,并记录呼吸频率和脉搏氧饱和度(SpO2)。3分钟后推注稀释或无稀释依托咪酯0.3 mg/kg,询问患者有无注射痛并做疼痛评分,观察有无肌阵挛并评估其程度。2分钟后给予维库溴铵0.1 mg/kg、芬太尼3 μg/kg和丙泊酚1 mg/kg行气管插管。实验期间同时记录无创动脉血压(BP)和心率(HR)。结果:组1和组4分别有2例(10%)和3例(15%)患者述轻度注射疼痛,而组2和组3无患者述注射疼痛。组1、组2和组3肌阵挛的发生率明显低于组4(30%、40%和15% vs 70%,Plt;0.05)。且组1、组2和组3肌阵挛的程度多为轻中度,而组4多为中重度。四组患者均未述任何呼吸困难,呼吸频率无明显降低,SpO2无明显变化。四组患者BP和HR变化一致,无明显差别。结论:预注小剂量维库溴铵或稀释依托咪酯可明显降低依托咪酯引起肌阵挛的发生率并减轻其程度。且这两种方法联合应用比单独应用效果更佳,具有一定程度的协同作用。
Objective To retrospectively analyze the epidemiology, clinical characteristics and causes of misdiagnosis of Juvenile myoclonic epilepsy (JME) in Xinjiang Uygur Autonomous Region, so as to provide basis for improving the diagnosis and treatment of JME. Methods 979 patients with epilepsy in Xinjiang Uygur Autonomous Region were analyzed retrospectively. There.were515males and 464females,average.age(18.66+8.31)years,.The epidemiological characteristics of JME were analyzed. The clinical characteristics, EEG, treatment effect and prognosis of patients diagnosed with JME were analyzed. The causes of misdiagnosis, missed diagnosis and delayed treatment were analyzed. Results The proportion of JME in 979 patients with epilepsy was 1.4%, a total of 14 cases. The median age of onset was (15+5.83) years, the median time from onset to treatment was 3 years, and the median time from onset to diagnosis was 6 years. All patients showed myoclonic seizures, 13 cases were complicated with generalized tonic clonic seizures, and 4 cases were accompanied by absence seizures. EEG findings include normal background activity, 3-6 Hz generalized spikes or frontal dominant multiple spikes at the beginning of arousal. seven patients were treated with levetiracetam, and the other seven patients were treated with lamotrigine and / or sodium valproate. Incomplete collection of medical history and failure to describe the medical history in detail are the main reasons for delaying diagnosis. Conclusion Juvenile myoclonic epilepsy is an treatable disease, but it is easy to be misdiagnosed. The rate of misdiagnosis and missed diagnosis of JME in Xinjiang is higher, and the delay of diagnosis and treatment is longer. The inquiry of more detailed and demonstrative medical history is of great significance to improve the diagnostic accuracy.
ObjectiveImpaired breathing during and following seizures is an important cause of sudden unexpected death in epilepsy (SUDEP), but the network mechanisms by which seizures impair breathing have not been thoroughly investigated. Progress would be greatly facilitated by a model in which breathing could be investigated during seizures in a controlled setting. MethodRecent work with an acute Long-Evans rat model of limbic seizures has demonstrated that depression of brainstem arousal systems may be critical for impaired consciousness during and after seizures. We now utilize the same rat model to investigate breathing during partial seizures with secondary generalization. ResultBreathing is markedly impaired during seizures(P < 0.05;n=21), and that the severity of breathing impairment is strongly correlated with the extent of seizure propagation (Pearson R=-0.73;P < 0.001;n=30). ConclusionSeizure propagation could increase the severity of breathing impairment caused by seizures. Based on these results, we suggest that this animal model would help us to improve understanding of pathways involved in impairment of breathing caused by seizures and this is an important initial step in addressing this significant cause of SUDEP in people living with epilepsy.
ObjectiveTo evaluate the efficacy and safety of midazolam in the prevention of etomidate-induced myoclonus. MethodsDatabases including PubMed, EMbase, The Cochrane Library (Issue 8, 2015), CBM, WanFang Data, VIP, and CNKI were electronically searched to collect randomized controlled trials (RCTs) about midazolam in the prevention of etomidate-induced myoclonus from inception to August, 2015. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed by RevMan 5.2 and Stata 12.0 softwares. ResultsA total of 14 RCTs involving 1 274 patients were included. The results of metaanalysis showed that, compared with placebo, pretreatment with midazolam injection could reduce the incidence of myoclonus (RR=0.28, 95%CI 0.19 to 0.42, P<0.000 01). The sub-group analysis based on different doses of midazolam showed that all three different doses of midazolam (0.015 mg/kg, 0.03 mg/kg and 0.05-0.1 mg/kg) could reduce the incidence of myoclonus effectively (all P values <0.05). ConclusionPretreatment with midazolam injection can reduce the incidence of etomidate-induced myoclonus without increasing the risk of recovery latency and over sedation. Due to the limited quality of included studies, the above conclusion needs to be further verified by more high quality studies.
ObjectiveWe report two family and one sporadic case with dyssynergia cerebellaris myoclonica, investigate the clinical and neural electrophysiological features. MethodsThe proband and sporadic patient was examined by clinical, neuroimaging, video-EEG and synchronous electromyography. ResultsThere were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family members in the first family(3 male and 3 female). There were 4 patients with dyssynergia cerebellaris myoclonica of the 20 family members in the second family(2 male and 2 female). All patiens had disproportionately myoclonus, epilepsy and progressive cerebellar ataxia. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the bilateral brain both in ictal and interictal period, sometimes it is especially in central, parietal and frontal area. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the central, parietal and frontal area in interictal period. Pathology of the skin and muscles are normal. ConclusionThe diagnosis of dyssynergia cerebellaris myoclonica was mainly based on typical clinical manifestations, brain MRI and EEG changes.Long time video EEG and synchronous EMG is important for the diagnosis. Skin and muscles pathology can be normal.