CFTR mutations in the Algerian population.

The nature and frequency of the major CFTR mutations in the North African population remain unclear, although a small number of CFTR mutation detection studies have been done in Algeria and Tunisia, showing largely European mutations such as F508del, G542X and N1303K, albeit at different frequencies, which presumably emerged via population admixture with Caucasians. Some unique mutations were identified in these populations. This is the first study that includes a genetic and clinical evaluation of CF patients living in Algeria. In order to offer an effective diagnostic service and to make accurate risk estimates, we decided to identify the CFTR mutations in 81 Algerian patients. We carried out D-HPLC, chemical-clamp denaturing gradient gel electrophoresis, multiplex amplification analysis of the CFTR gene and automated direct DNA sequencing. We identified 15 different mutations which account for 58.5% of the CF chromosomes. We used a quantitative PCR technique (quantitative multiplex PCR short fragment fluorescence analysis) to screen for deletion/duplication in the 27 exons of the gene. Taking advantage of the homogeneity of the sample, we report clinical features of homozygous CF patients. As CFTR mutations have been detected in males with infertility, 46 unrelated Algerian individuals with obstructive azoospermia were also investigated.

ERP study of the development of the holistic and analytic modes of processing between 6 and 8 years.

Event-related potentials (ERPs) were recorded (01, 02, Fcz, Cpz leads) from 32 normal children aged from 6 to 8 years during a categorisation task performed with 4 types of stimuli that allowed for a holistic and/or an analytic development to modify information processing according to the child's age. Whatever age, derivation or stimulus, the individual ERPs showed a large negative N2 wave (mean latency: 230 ms) made up of two widely overlapping components. In order to separate these components, an initial principal component analysis (PCA) was performed on the waveforms; this PCA provided a principal component that accounted for the amplitude difference between the first negative peak of the N2 wave (180 ms after stimulus onset) and the subsequent slope change. A second PCA was then carried out on the corresponding individual component scores; this second PCA provided two factors according to whether the stimuli were holistically or analytically processed. Regarding the pre- and post-vertex data (Fcz and Cpz), these two factors accounted for the same ERP effect for the 6-year-old children but opposite effects after the age of seven. We interpreted this change as reflecting the differentiation of specific - holistic and analytic - modes of processing from a non-specific mode after the establishment of the concrete operation period.

[Maturation of late visual potentials linked to cognitive processes in the normal child]. / Maturation des potentiels visuels tardifs liés aux processus cognitifs chez l'enfant normal.

In 21 normal children in age ranging from 6 to 9 years, endogenous P300 components were recorded on vertex and occipital areas. The ERPs were provoked by error detections in various tasks of visual discrimination involving cognitive abilities of the subjects. The data reveal an obvious influence of the age according to the number of the detected P300 and the correlations between presence and/or absence of the vertex and occipital responses. The limit of 7 years of age seemed important for the maturation of the P300 system.