原发全身性癫痫遗传流行病学研究

本文报道１００例原发全身性癫痫家系的遗传流行病学研究结果。先证者一级亲属患病率为６．８６％，二级亲属为１．０３％；分别是对照组一级亲属的１３．８３倍和２．０８倍。原发全身性癫痫的遗传度为：一级亲属０．７５２１±０．０６７８，二级亲属０．３５９２±０．０７４６；加权平均０．５７４３±０．０５０２。说明遗传因素起重要作用。发病年龄影响因素分析表明：原发全身性癫痫有一定年龄依从性。ＥＥＧ家系分析显示，该型癫痫一级亲属癫痫样放电明显高于对照组一级亲属，提示癫痫样放电的遗传倾向。     

Epileptic seizures,arthrogryposis, and migrational brain disorders: a syndrome?

Introduction – Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. Material and methods – Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. Results – Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients witL demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. Conclusion – We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.     

Undergraduate and postgraduate dental students''reflection on learning'': a qualitative study

The aim of this study was to explore undergraduate and postgraduate dental students' understanding of a good learning experience by using 'reflection on learning' as described by Schon. Four groups of Year 4 BDS students and one group of postgraduate students in dental public health took part in a series of focus group discussions. The responses were grouped into four broad themes (a) active, practical and positive learning; (b) interactive/together learning; (c) personal learning; (d) theory into practice. Six educational models of good learning proposed by the students are described.     

Molecular Pharmacology of Topiramate: Managing Seizures and Preventing Migraine

Topiramate is a neuromodulatory compound with stabilizing properties that was initially introduced for the management of partial seizures. Topiramate has been demonstrated to modify several receptor-gated and voltage-sensitive ion channels, including voltage-activated Na⁺ and Ca²⁺ channels and non-NMDA receptors. These receptors have been implicated in the pathophysiology of both epilepsy and migraine. The pharmacological mechanisms of action for topiramate that may explain its antiepileptic and migraine preventive activities will be discussed in this review. In addition, the potential relationship between the molecular activities of topiramate and its efficacy in epilepsy and migraine prevention will be emphasized.     

Effects of dextropropoxyphene on the steady-state kinetics of oxcarbazepine and its metabolites

The effects of dextropropoxyphene on the steady-state kinetics of oxcarbazepine and its metabolites were investigated in eight patients with epilepsy or trigeminal neuralgia. One patient dropped out of the study, presumably due to side-effects of dextropropoxyphene. Dextropropoxyphene did not affect the plasma levels of the principal active metabolite, 10,11-dihydro-10-hydroxy-carbamazepine. Since dextropropoxyphene is known to increase the plasma levels of carbamazepine, leading to toxicity, the findings of this study suggest that oxcarbazepine is a useful alternative to carbamazepine when concomitant dextropropoxyphene therapy is required.     

Perception and social consequences of tuberculosis: A focus group study of tuberculosis patients in Sialkot, Pakistan

Treatment defaulting is one of the major causes of the failure of TB control programs. In Bethania Hospital. Sialkot, defaulting rates are high: 72% for the standard 12 months course and 56% for the 8 months course. Attrition is especially important in the first weeks of treatment: < 70% of the patients start the 10th week of treatment. A focus group discussion study has been carried out to gain a better understanding of the impact of social stigmatization, treatment cost and pregnancy on defaulting. The study population consisted of 3 male and 3 female groups each with 8 hospitalized TB patients. The study shows that TB is perceived as a very dangerous, infectious and incurable disease. This perception has many social consequences: stigmatization and social isolation of TB patients and their families; diminished marriage prospects for young TB patients, and even for their family members; TB in one of the partners may lead to divorce. Due to fear patients often deny the diagnosis and reject the treatment. While both male and female TB patients face many social and economical problems, female patients are more affected. Divorce and broken engagements seem to occur more often in female patients. Females are usually economically dependent on their husbands and family in law, and need their cooperation to avail of treatment. The belief that pregnancy enhances the risk for relapse decreases their marriage prospects. Pregnancy is also a reason for stopping TB treatment as both are considered as incompatible. The findings of this study reveal the urgent need for a health education campaign to convince the general population that tuberculosis is curable. All health care providers should act as destigmatizers.     

中风后癫痫的临床研究

本文报告３６例中风后癫痫发作的临床和ＣＴ资料。通过回顾性病历复习和随访发现，中风后癫痫的发生率占同期住院中风患者的５．２６％，以蛛网膜下腔出血和脑栓塞发生癫痫比率最高，分别为１５％和１２．５％。癫痫发作与ＣＴ所见病灶分布密切相关，皮质病灶较皮质下病灶更易发生病病。癫痫发作可发生于中风后任何时期，但早期癫痫以出血性中风多见，而迟发性癫痫则更多见于脑梗塞患者。     

Mono- or Polypharmacotherapy in Institutionalized Epileptic Children with Severe Mental Retardation?

ABSTRACT. Nine severely mentally retarded patients with severe epilepsy who were living in an institution were studied during a three-year period by a multi-disciplinary team. A seizure rate serum level chart was made for each patient. It served as the basis for monthly discussions in the team about medication changes. Drug plasma concentrations were monitored monthly. Statistical comparisons between seizure frequency on different drug regimens were made by χ² test. Withdrawal of all medication was possible in one case and reduction to monotherapy in two cases. In the remainder of the patients a combination of two or three anticonvulsants gave the best clinical effect. We thus found polypharmacotherapy necessary for some severely retarded patients with epilepsy. Our multidisciplinary approach and chart monitoring system has many advantages and is valuable for the medical care and drug treatment of this patient category.