Effect of polymorphism in insulin locus and HLA on type 1 diabetes in four ethnic groups in Israel

This study examined a possible association of the insulin ( INS ) gene with type 1 diabetes (T1D) in patients and controls from four ethnic groups in Israel. We analyzed the distribution of −23 Hph I single nucleotide polymorphism (SNP) T/A alleles that correspond to INS variable number of tandem repeat short class I alleles (26–63 repeats) and class III alleles (141–209 repeats), respectively. The −23 Hph I T/T genotype was found to be positively associated with T1D in three Jewish groups (Yemenites: 93.9% patients vs 68.8% controls, P  = 0.0002; Ashkenazi: 80.6% vs 50.8%, P  < 10⁻⁴; Ethiopians: 75% vs 40.5%, P  = 0.002). The Yemenite healthy controls have the highest frequency of T allele from all Jewish groups studied (83.5% vs 68.8% in Ashkenazi and 64.3% in Ethiopians). The high frequency of a susceptibility allele in the Yemenites is in line with the high incidence of T1D in this population. No association was observed between T1D and the INS gene in Israeli Arabs studied (70.6% vs 66.7%). Variable incidence of T1D among different ethnicities in Israel is largely attributed to heterogeneous genetics. Human leukocyte antigen (HLA) results of our previous studies describing the susceptibility and protective haplotypes were used for combined analysis to determine possible interaction between the HLA and INS loci. Only in the Ashkenazi group such interaction was presented with statistical significance.     

Prognostic value of periodic electroencephalographic discharges for neurological patients with profound disturbances of consciousness

ObjectiveTo examine if periodic EEG discharges (PDs) predict poor outcome and development of epilepsy in patients with acute brain illnesses irrespective of underlying cerebral pathology.MethodsIn case-control study we retrospectively analyzed outcome of 102 patients with PDs and 102 age-, gender- and etiology matched controls without PDs.ResultsOf cases, 46.1% had lateralized PDs (LPDs), 3.9% bilateral PDs (BIPDs), 15.7% generalized PDs (GPDs) and 34.3% had combinations thereof. Etiology: Stroke was most common cause of LPDs (53%), cardiac arrest of GPDs (10.5%), previous stroke, CNS infection, anoxia and metabolic encephalopathy all caused 1 case of BIPDs. Outcome: Mortality rate and acquired disability was significantly higher in patients with PDs than in controls, odds ratio (OR) 2.5, 95% CI 1.43–4.40 (p = 0.001). Patients with PDs without superimposed EEG activity had worse outcome than patients with superimposed EEG activity. Tardive epilepsy: Patients with LPDs associated with fast superimposed EEG activity (LPDs-plus) had higher risk for tardive epilepsy than patients with LPDs alone (p = 0.034).ConclusionPDs predicted poor functional outcome and patients with LPDs-plus had higher risk for later development of epilepsy.SignificanceDetailed evaluation of PDs provided valuable prognostic information in neurological patients with disturbed consciousness.     

Is Intraoperative Electrocorticography Reliable in Children with Intractable Neocortical Epilepsy?

PURPOSE: To study the relation between the spike frequency during intraoperative electrocorticography (ECoG) under general anesthesia with isoflurane and that during extraoperative ECoG monitoring in children with intractable neocortical epilepsy. METHODS: Twenty-one children (age, 1-16 years; 15 boys and six girls) who underwent intraoperative and extraoperative ECoG monitoring with subdural electrode arrays were studied. The spike frequency and the spatial pattern of spike frequency were compared between intraoperative and extraoperative ECoGs for each patient (by using Wilcoxon signed-ranks and Spearman's rank correlation, respectively). RESULTS: In 15 of 21 patients, the spike frequency was significantly lower during intraoperative than during extraoperative ECoG (mean z = -6.3; p < 0.001). In four of 21 patients, no significant difference was found in the spike frequency between intraoperative and extraoperative recordings. In two of 21 patients, spike frequency reached one spike/min neither during intraoperative nor extraoperative recording; therefore appropriate comparison of spike frequency was not possible. A significant positive correlation in the spike-frequency pattern was seen between intraoperative and extraoperative recordings in nine of nine cases who had > or = 10 spikes/min during intraoperative ECoG (mean rho = 0.62; p < 0.01), in five of six cases with one to nine spikes/min (mean rho = 0.50; p < 0.01), and in none of five cases with less than one spike/min (mean rho = 0.13). CONCLUSIONS: General anesthesia often decreases the spike frequency in children with neocortical epilepsy, yet intraoperative ECoG can reliably reflect the awake interictal spiking pattern when spike frequency exceeds one spike/min during intraoperative ECoG recording.