Speech and school performance in children with benign partial epilepsy with centro-temporal spikes (BCECTS)

PurposeTo assess prospectively language and speech ability in children with benign partial epilepsy with centro-temporal spikes (BCECTS). To evaluate academic performance and social competencies both during the active disease and after remission.MethodsRight-handed school children with typical BCECTS and a control group matched by age, sex, handedness and socioeconomic status were examined. The German version of WISC-R, the “Tübinger Luria Christensen Neuropsychological Test Set for children” (TÜKI), the “Verbal Learning Memory Test” (VLMT), the “Heidelberger Speech Development Test-second edition” (HSET), and the “Salzburger reading and writing test” (SLRT) were applied. The Child Behavior Checklist (CBCL) and a semi-structured interview were performed with the children's teachers to gain insight into school performance, behavioral and emotional problems.ResultsDuring the active phase, the patient group – despite normal global intellectual abilities – showed few, but significant impairments both in expressive speech and in receptive and expressive vocabulary. A significant deficit in the ability to recognize and express interpersonal relations was also found. Patients’ teachers stated deficits concerning academic performance and complained about disturbing behavior. Parents reported significantly more psycho-pathological features in the subscales “Aggressive Behavior”, “Attention Problems” and “Anxious/Depressed” of the CBCL. Results were independent of medication and spike localization.After complete recovery from BCECTS, these problems were not found any more.ConclusionsBoth deficits of speech-related abilities (in both expressive and receptive vocabulary) and behavioral disturbances can be detected in children with typical BCECTS, but are no longer apparent after remission of the seizure disorder.     

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, alpha=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent-child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT chi(1)2 = 5.17, p<0.03. Case-control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: chi(1)2 = 7.27, p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.     

Interstitial leukocytes in right ventricular endomyocardial biopsies after heart transplantation in patients with complicated versus uneventful postoperative course

BACKGROUND: Infections and rejections play key roles in morbidity and mortality in the early postoperative period after orthotopic heart transplantation (HTX). The aim of this study was to evaluate whether qualitative and quantitative analyses of various interstitial leukocytes in endomyocardial biopsies during the first 2 weeks after HTX provided early information on these complications. PATIENTS AND METHODS: During and after HTX, endomyocardial biopsies were obtained in 51 patients. By immunohistochemistry we determined the CD3-, CD4-, CD8-, CD15-, CD20-, CD57-, and CD68-positive cell numbers projected to planimetrically measured areas. To compare morbidity in the postoperative course, the patients were subdivided into complicated versus uncomplicated after 3 months. RESULTS: In the uncomplicated group, the cell counts of CD3-, CD8-, CD57-, and CD68-positive cells were significantly lower than in the complicated group. CD3-, CD4-, and CD8-positive cell numbers showed a significant decrease in the first week among the uncomplicated group. In the complicated group, the cell counts increased significantly in the second week. The numbers of CD57-positive cells were significantly lower during the first and second weeks among the uncomplicated group. CONCLUSIONS: Increased T lymphocytes, natural killer cells, and macrophages observed in the second week after HTX indicated increased morbidity. A reduction in CD3-positive cells in the first week indicated a low morbidity risk; an increase indicated a higher risk.     

Carbamazepine (Tegretol) monotherapy in epilepsies with partial and/or secondary generalized seizures in childhood and adolescence

The effectiveness and side effects of a carbamazepine monotherapy were evaluated in 40 children and adolescents (22 boys and 18 girls with an age distribution between 1 and 16 years) over a period of 6 years. In addition the attempt has been made, to find correlations between sex, age of seizure onset, aetiology of the disease, types of seizures, and EEG-abnormalities on the one hand, and the clinical response to the drug on the other. Selection criteria were, that the patients were under continuous follow-up, that they suffered from partial or/and secondarily generalized seizures and that Tegretol was the first and only drug at the beginning of the examination. The treatment with the Carbamazepine-monotherapy was successful in 63% of the patients, 37% remained resistant to the treatment. Carbamazepine proved to be effective against partial seizures as well as secondarily generalized grand-mal-seizures. The therapeutic range of the serum carbamazepine levels during monotherapy varied between 15-35 mu Mol/l. 40 patients entered, 38 completed the study. In two cases the drug had to be stopped owing to allergic skin rash due to the drug. No other serious side effects were observed in any of the remaining 38 patients. The most frequent laboratory changes were an increase of Gamma-GT and leucopenia. All the cases who became seizure-free (Responder) were compared with the remaining cases with unfavourable treatment results (Nonresponder) in order to find out whether there are significant differences between the two groups, as far as sex, age ... etc. (see above) are concerned.(ABSTRACT TRUNCATED AT 250 WORDS)     

Comparison of BDPhoenix and VITEK2 automated antimicrobial susceptibility test systems for extended-spectrum beta-lactamase detection in Escherichia coli and Klebsiella species clinical isolates

The present study compares the ability to detect extended-spectrum beta-lactamases (ESBL) among a collection of 34 ESBL producing clinical isolates belonging to Escherichia coli and Klebsiella species with two new rapid susceptibility and identification instruments-VITEK2 (bioMérieux, Marcy l'Etoile, France) vs. BDPhoenix (BD Biosciences, Sparks, MD). ESBL content in these isolates was previously characterized on the basis of PCR amplification and sequencing results which were used as the reference method in our evaluation. BDPhoenix correctly determined the ESBL outcome for all strains tested (100% detection rate), whereas VITEK2 was not able to detect the ESBL status in 5 isolates (85% detection rate). Detailed analysis revealed that the discrepancies were mainly observed with 'difficult-to-detect' strains. Misidentification was either due to low oximino cephalosporin MIC in these strains or was associated with pronounced 'cefotaximase' or 'ceftazidimase' phenotypes. Klebsiella oxytoca chromosomal beta-lactamase (K1) is phenotypically quite similar to ESBL enzymes. In order to evaluate whether the K1 and ESBL enzymes could be discriminated, we expanded our analysis by 8 clinical K. oxytoca strains with K1 phenotypes. VITEK2 gave excellent identification of these strains whereas 7 out of 8 were falsely labeled ESBL-positive by the BDPhoenix system.     

Tear fluid of hepatitis C virus carriers could be infectious.

For up to 20 to 40% of patients chronically infected with hepatitis C virus (HCV), the mode of transmission is still unknown. We demonstrate that tear fluid contains HCV RNA-carrying material with the properties of infectious virus and conclude that smear infection with tear fluid may play a role in HCV transmission.