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91.
Age-related gender differences in reporting ictal fear: analysis of case histories and review of the literature 总被引:1,自引:0,他引:1
Chiesa V Gardella E Tassi L Canger R Lo Russo G Piazzini A Turner K Canevini MP 《Epilepsia》2007,48(12):2361-2364
To determine if there are age or gender-related differences in reporting fear as a symptom of epileptic seizure, all clinical charts of patients evaluated at the "C. Munari - Epilepsy Surgery Center" of Milan from 1990 to June 2005 were analyzed, looking for patients with ictal fear. Among the 2,530 clinical charts examined (1,330 male and 1,200 female), 265 patients were found with ictal fear (100 men, 165 women). The gender difference in reporting ictal fear was not so marked in the pediatric age group (98 girls, 74 boys), whereas in adult patients the difference was significant (158 women, 83 men). Interestingly, more men than women (14:3) had ictal fear during childhood that disappeared during adulthood. The literature review confirmed that ictal fear is significantly more common in women, though there is no gender difference in the pediatric age group. 相似文献
92.
Terzaghi M Sartori I Mai R Tassi L Francione S Cardinale F Castana L Cossu M LoRusso G Manni R Nobili L 《Epilepsia》2007,48(2):335-341
PURPOSE: Nocturnal frontal lobe epilepsy (NFLE) is characterized by a wide spectrum of sleep-related motor manifestations of increasing complexity, ranging from major episodes to brief motor events (minor motor events, MMEs). NFLE patients may exhibit a large quantity of MMEs in the form of short-lasting stereotyped movements. Whereas major episodes are considered epileptiform manifestations, it remains unclear whether the MMEs are related to epileptiform discharges (EDs). METHODS: To study the relation between EDs and the occurrence of MMEs, we report a detailed neurophysiolgical evaluation in NFLE subjects explored by using implanted electrodes. RESULTS: The median value of ED-related movements was 71.8%. Motor expression in relation to epileptiform discharge was surprisingly variable; no peculiar expression of MMEs could be attributed to the presence of EDs. CONCLUSIONS: Our data suggest that ED-associated MMEs are extremely polymorphous, and no univocal relation to EDs can be identified. We hypothesize that MMEs are not a direct effect of epileptiform discharge (i.e., not epileptic in origin), but the result of aspecific disinhibition of innate motor patterns. We warn clinicians that the epileptic nature of minimal motor phenomena in NFLE cannot be established on the clinical phenomenology of the event. 相似文献
93.
EM Maier J Pongratz AC Muntau B Liebl U Nennstiel-Ratzel U Busch R Fingerhut B Olgemöller AA Roscher W Röschinger 《Clinical genetics》2009,76(2):179-187
Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) represents a potentially fatal fatty acid β‐oxidation disorder. Newborn screening (NBS) by tandem mass spectrometry (MS/MS) has been implemented worldwide, but is associated with unresolved questions regarding population heterogeneity, burden on healthy carriers, cut‐off policies, false‐positive and negative rates. In a retrospective case‐control study, 333 NBS samples showing borderline acylcarnitine patterns but not reaching recall criteria were genotyped for the two most common mutations (c.985A>G/c.199C>T) and compared with genotypes and acylcarnitines of 333 controls, 68 false‐positives, and 34 patients. c.985A>G was more frequently identified in the study group and false‐positives compared to controls (1:4.3/1:2.3 vs. 1:42), whereas c.199C>T was found more frequently only within the false‐positives (1:23). Biochemical criteria were devised to differentiate homozygous (c.985A>G), compound heterozygous (c.985A>G/c.199C>T), and heterozygous individuals. Four false‐negatives were identified because our initial algorithm required an elevation of octanoylcarnitine (C8) and three secondary markers in the initial and follow‐up sample. The new approach allowed a reduction of false‐positives (by defining high cut‐offs: 1.4 μmol/l for C8; 7 for C8/C12) and false‐negatives (by sequencing the ACADM gene of few suspicious samples). Our validation strategy is able to differentiate healthy carriers from patients doubling the positive predictive value (42→88%) and to target NBS to MCADD‐subsets with potentially higher risk of adverse outcome. It remains controversial, if NBS programs should aim at identifying all subsets of all diseases included. Because the natural course of milder variants cannot be assessed by observational studies, our strategy could serve as a general model for evaluation of MS/MS‐based NBS. 相似文献
94.
95.
96.
Cossu M Lo Russo G Francione S Mai R Nobili L Sartori I Tassi L Citterio A Colombo N Bramerio M Galli C Castana L Cardinale F 《Epilepsia》2008,49(1):65-72
PURPOSE: To retrospectively analyze the results on seizures of surgery in children with drug-resistant focal epilepsy. To identify the factors predicting seizure control among several presurgical, surgical, and postsurgical variables. METHODS: One hundred thirteen patients (67 male, 46 female), younger than 16 years, operated on from 1996 to 2004 and followed-up for at least 2 years were identified. Individualized microsurgical resections, aimed at removal of the epileptogenic zone, were performed according to the results of tailored presurgical evaluations, which included stereo-electroencephalographic recording with intracerebral electrodes when needed. Risk of seizure recurrence was assessed for the considered variables by bivariate and multivariate analysis. RESULTS: Mean age at surgery was 8.8 years, mean duration of epilepsy was 5.7 years, and mean age at seizure onset was 3.1 years. One hundred eight patients (96%) had an abnormal magnetic resonance imaging. At postoperative follow-up (mean duration 55.1 month), 77 patients (68%) were in Engel's class I, with 68 patients (60%) being seizure free (Engel's classes Ia and Ic). At multivariate analysis, variables associated with a significantly lower risk of seizure recurrence were unifocal lesion at MRI and older age at seizure onset (presurgical variables), temporal unilobar resection and complete lesionectomy (surgical variables), diagnosis of glial-neuronal tumors (postsurgical variables). CONCLUSIONS: Surgery is a valuable option for children with drug-resistant focal epilepsies which may provide excellent results in a considerable amount of cases. Since results of surgery for epilepsy strongly depend on the presurgical identification of the Epileptogenic Zone, future work should be focused on refinement and implementation of diagnostic strategies. 相似文献
97.
Coupling of minor motor events and epileptiform discharges with arousal fluctuations in NFLE 总被引:2,自引:0,他引:2
Terzaghi M Sartori I Mai R Tassi L Francione S Cardinale F Castana L Cossu M LoRusso G Manni R Nobili L 《Epilepsia》2008,49(4):670-676
Purpose: We recently demonstrated that in nocturnal frontal lobe epilepsy (NFLE) highly stereotyped minor motor events (MMEs, in the form of short‐lasting stereotyped movements involving the limbs, the axial musculature, and/or the head), could occur in either the presence or absence of an epileptiform discharge (ED). In lack of a systematic analysis, both MMEs and EDs were frequently observed to occur in association with arousal fluctuations. Hereby, in the same group of refractory NFLE subjects, we report a methodical neurophysiolgical investigation set out to investigate whether, and how, the arousal mechanism, monitored through visual scoring of the cyclic alternating pattern, modulates the expression of MMEs and EDs. Methods: The relationship of MMEs, EDs and arousal fluctuation was assessed in subjects explored using implanted electrodes. Results: The occurrence of both EDs and MMEs was associated with higher level of arousal (p < 0.0001). Multivariate logistic regression analysis shows a significant effect of interaction of EDs and MMEs during CAP sleep (p < 0.001). Conclusions: Both MMEs and EDs are associated with arousal. We suggest that recurrence of EDs in itself can induce an increase in arousal level, which in turn, through a gate effect, facilitate the occurrence of MMEs. Thus, MMEs wouldn't be a direct effect of EDs, but rather originate from an indirect effect related to loss of cortical inhibition, which is secondary to arousal. In this perspective MMEs may be regarded as the result of aspecific dishinibition, triggered by internal epileptiform stimuli, of innate motor patterns generated by central pattern generators (CPGs). The CPG system might represent, through arousal facilitation, the substrate of the heterogeneous expression of MMEs in NFLE. 相似文献
98.
99.
Hartdorff Caroline M Frank Kneepkens CM van Dijk Alice EM Stok Anita Engels Michelle AH Gemke Reinoud JBJ Kindermann Angelika 《Tijdschrift voor kindergeneeskunde》2013,81(1):11-11
Tijdschrift voor Kindergeneeskunde - 相似文献
100.