Libri novi

Sans résumé     

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:)

In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.     

Functional Differences Among Benthic Macroinvertebrate Communities in Reference Streams of Same Order in a Given Biogeographic Area

Ecological theory (Southwood, 1977. Journal of Animal Ecology 46: 337–365, 1988. Oikos 52: 3–18; Townsend, 1989. Journal of the North American Benthological Society 8: 36–50; Townsend & Hildrew, 1994. Freshwater Biology 31: 265–275) considers that spatio-temporal variations in habitats act as evolutionary forces on organisms, selecting for traits that maximize fitness. As a consequence, communities developed under same environmental conditions should present the same combination of species bio-ecological characteristics. The objective was to verify, using data from the same biogeographical zone, (1) if there was a unique suite of bio-ecological profiles for reference macrobenthic communities of `comparable' rivers or (2) if the distribution of bio-ecological traits within reference communities was significantly influenced by geology. The variability of 22 bio-ecological traits in 12 different sites was tested to evaluate the potential influence of geological substrate on biological and ecological features of reference stream communities. Observed patterns suggested that communities displayed highly stable bio-ecological profiles among sites (within a given biogeographical zone) whatever the substrate was, even if communities on clayey substrate exhibited slightly different bio/ecological characteristics than on others geologies. Nevertheless, the functional structure of macrobenthic communities in reference sites was quite stable in this biogeographical area. This study was restricted to the selected stream types and its results may not directly be transferred to other biogeographical areas and stream types. However, the perspective of a unique functional reference for streams of the same order in a given biogeographical area, improve functional comparison between observed vs. reference communities. This could simplify and objectively define the ecological status of a given site.     

Regulation of peroxisome proliferator-activated receptor alpha by protein kinase C

Peroxisome proliferator-activated receptor alpha (PPARalpha) is a nuclear receptor activated by fatty acids, hypolipidemic drugs, and peroxisome proliferators (PPs). Like other nuclear receptors, PPARalpha is a phosphoprotein whose activity is affected by a variety of growth factor signaling cascades. In this study, the effects of protein kinase C (PKC) on PPARalpha activity were explored. In vivo phosphorylation studies in COS-1 cells transfected with murine PPARalpha showed that the level of phosphorylated PPARalpha is increased by treatment with the PP Wy-14,643 as well as the PKC activator phorbol myristol acetate (PMA). In addition, inhibitors of PKC decreased Wy-14,643-induced PPARalpha activity in a variety of reporter assays. Overexpressing PKCalpha, -beta, -delta, and -zeta affected both basal and Wy-14,643-induced PPARalpha activity. Four consensus PKC phosphorylation sites are contained within the DNA binding (C-domain) and hinge (D-domain) regions of rat PPARalpha (S110, T129, S142, and S179), and their contribution to receptor function was examined. Mutation of T129 or S179 to alanine prevented heterodimerization of PPARalpha with RXRalpha, lowered the level of phosphorylation by PKCalpha and PKCdelta in vitro, and lowered the level of phosphorylation of transfected PPARalpha in transfected cells. In addition, the T129A mutation prevented PPARalpha from binding DNA in an electromobility shift assay. Together, these studies demonstrate a direct role for PKC in the regulation of PPARalpha, and suggest several PKCs can regulate PPARalpha activity through multiple phosphorylation sites.     

Growth-inhibition effects of pacifastin-like peptides on a pest insect: the desert locust, Schistocerca gregaria

The main reason for the varying degrees of success of peptidase inhibitors (PI) as biological insecticides is the existence of a poorly understood mechanism, which allows pest insects to compensate for PI present in their diet. To challenge this highly flexible physiological mechanism and to prolong the inhibitory effect of PI on insect growth, a number of measures were taken into account before and during experiments with a notorious pest insect, the desert locust, Schistocerca gregaria: (i) non-plant PI (pacifastin-related inhibitors) were used to reduce the risk of a specific co-evolutionary adaptation of the pest insect, (ii) based on the main types of digestive enzymes present in the midgut, mixtures of multiple PI with different enzyme specificity were selected, allowing for a maximal inhibition of the proteolytic activity and (iii) digestive peptidase samples were taken during oral administration experiments to study compensatory mechanisms. Contrary to larvae fed on a diet containing plant-derived PI, a significant growth impediment was observed in larvae that were fed a mixture of different pacifastin-like PI. Nevertheless, the growth inhibition effect of this PI mixture attenuated after a few days, Moreover, a comprehensive study of the observed responses after oral administration of PI revealed that S. gregaria larvae can adjust their secreted digestive enzyme activities in two distinct ways depending on the composition/concentration of the PI-mixture.     

Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment

Two cases of median cleft syndrome with associated basal encephalocele are presented. The median cleft face syndrome consists of several craniofacial defects and occurs, as far as we know, sporadically. Extracranial defects should be looked for carefully since they may indicate the presence of a specific syndrome with its own prognosis and mode of inheritance. Basal encephaloceles are sometimes part of the syndrome and may cause serious, or even life-threatening, symptoms. With regard to the treatment of basal encephaloceles there still exists a lot of controversion, but most authors agree that it is better to postpone operation until after the age of three because mortality is lower then.     

Hypomelanosis of Ito and severe sensorineural deafness.

In this report we describe an 8-year-old boy of Algerian origin with profound sensorineural deafness and skin pigmentation anomalies consistent with the diagnosis of hypomelanosis of Ito. On the basis of this observation the etiologic heterogeneity of this condition is discussed.