G´en´etique Clinique dans le Service de P´ediatrie et de G´en´etique M´edicale du Centre National Hospitalier et Universitaire de Cotonou : Etat des Lieux et Perspectives

Il s’agissait d’une ´etude r´etrospective descriptive portant sur les patients rec¸us en consultation de g´en´etique m´edicale de Septembre 2004 `a Aoˆut 2007. Les patients b´en´eficiaient des examens dysmorphologique et physique, des bilans cytog´en´etiques et/ou mol´eculaires, des interventions th´erapeutiques et un suivi `a long terme. Les variables ´etudi´ees ´etaient les donn´ees sociod´emographiques et cliniques. Soixante et seize patients ont ´et´e rec¸us durant la p´eriode avec une pr´edominance masculine (57,89%). Les motifs de consultation ´etaient domin´es par le retard psychomoteur (38,15%), la dysmorphie faciale (30,26%) et les malformations (19,73%). Les principales malformations portaient sur les extr´emit´es et la face. Les pathologies confirm´ees comprenaient des aberrations chromosomiques (46,05%) avec une pr´edominance de la trisomie 21 et des maladies monog´eniques (7,89%). Le rendement de nos recherches pourrait ˆetre am´elior´e par l’acc`es `a la technique FISH. C’est une exp´erience quasi unique en Afrique de l’ouest et permet d’apporter des r´eponses aux personnes souffrant d’affections h´er´editaires.Mots Cl´es g´en´etique clinique ; retard psychomoteur ; dysmorphie ; malformation ; aberration chromosomique ; maladie monog´eniqu

Les occlusions neonatales au Centre National Hospitalier et Universitare (CNHU) de Cotonou : Aspects épidémiologiques, cliniques et thérapeutiques

Les occlusions nonatales (ONN), les plus frquentes des urgences chirurgicales nonatales, sont des affections graves, greves d.une forte mortalit dpassant encore 50% en Afrique tropicale. Ce travail avait pour objectifs d.tudier leurs aspects pidmiologiques, cliniques et volutifs et d.analyser les problmes poss par leur prise en charge au Centre National Hospitalier et Universitaire (CNHU) de Cotonou. Il s.agit d.une tude rtrospective vise descriptive portant sur les occlusions nonatales, l.exclusion des malformations ano-rectales. 62 dossiers d.occlusions nonatales ont t colligs reprsentant 41 % des syndromes occlusifs. L.incidence annuelle moyenne tait de 4. L.ge moyen d.admission tait de 14 ± 5 jours. La sex-ratio tait de 1,4. Le dlai d.admission tait en moyenne de 11 ± 4 jours. Aucune ONN n.a t diagnostique en priode antnatale. 50% des ONN taient des atrsies intestinales. Le dlai moyen d.intervention chirurgicale tait de 7 + 3 jours. Les complications post-opratoires, observes dans 75% des cas, taient domines par la dnutrition (55%) et les occlusions post-opratoires (22%). La mortalit globale tait de 44,2%. Elle tait plus importante chez les oprs (58,3%). Les ONN ont une frquence sous estime Cotonou. Elles sont caractrises par des retards considrables l.admission, au diagnostic et l.intervention, et de fortes, morbidit et mortalit. Cette situation est en rapport avec l.absence de diagnostic antnatal, l.inexistence de services spcialiss et performants d.Anesthsie-Ranimation et de Soins intensifs en Nonatologie et l.inexistence de couverture sociale universelle. Clinics in Mother and Child Health Vol. 3(1) 2006: 457-46

Éducation préscolaire en famille: Ce qui reste de la tradition en ville expérience à Cotonou, Bénin

Objective: the objective of this survey was to value what of the traditional education remained currently in practices of child's education in family in our cities. Method: it's a prospective and descriptive survey, achieved in 151 families of children aged of 0 at 6 years, by a method of sampling reasoned. Results: 14 to 17% of parents educate exclusively their children in preschool age in French or maternal language, and 68,2% use French and maternal language. Games and the surrounding objects keep the attention of children, respectively in 38,4% and 36,4%. Television has been signalled in 14,6%. The traditional practice of tales at the evening takes place in 53,6% of families. 87,4% of parents confide some domestic tasks to their own children in preschool age. 37,7% have to their service a domestic child; more of the third of this last category make work as well their own children that the domestic children. Sanctions apply on children in 85,4%, with 47,3% of bodily sanctions and 52,7% of various deprivations. 41,7% of parents punish for disobedience and 1,3% for bad school output. 84,5% of parents that use sanction estimate that it is bearer of positive educational effect. There is interdependence between, on the one hand, the motive of sanction, on the other hand, the type of sanction, and the declared educational effect. 86,1% of children ask questions judged embarrassing to their parents, of which 36,9% get a satisfactory answer. Discussion-conclusion: education in Africa is a "work of all the community and no the one of parents"; what explains the care and the education of children in part by the grandparents. Sanctions have been declared educational strategies. Nevertheless, the parents made the part of behaviors and conducts raising the child's will and those none mastered by his determination. Narration of tales in the evening is in obsolescence. Questions asked by children and answers made by parents testify the evolution of a good enough communication; children are better listened by parents. The well educated individual depends of the consequence of that that his society wants to make it. The role of parents and the one of teachers constitutes a continuum, from where the interest of a collaboration and/or a coordination

Une étude de la morbidité palustre dans un service hospitalier de pédiatrie au Bénin (Afrique de l'Ouest) en 1988 et 1989

Une enquête prospective menée pendant un an dans le Service de Pédiatrie de l'HÔital de Cotonou a permis d''estimer la morbidité palustre infantile en milieu urbain lagunaire. Le diagnostic d'accès palustre a été posé lorsqu'ont été réunis les trois critères suivants: 1. Une fièvre inexpliquée au moment de l'hospitalisation et/ou dans les heures précédant ou suivant l'admission; 2. L'efficacité de la malariathérapie parentérale; 3. Une densité parasitaire supérieure à 3.000 hématies parasitées par millimètre cube de sang. Parmi 480 enfants hospitalisés, 20 % réunissaient ces 3 critères diagnostiques. La proportion d'accès palustres parmi les fièvres était la plus élevée chez les enfants d'âge inférieur à 6 ans. La morbidité palustre suit une variation saisonnière. Les auteurs soulignent les limites de leur étude: les critères diagnostiques choisis ne prennent pas en compte toutes les formes de "paludisme-maladie", en particulier celles à parasitémie faible. (Résumé d'auteur

The Complete Mitochondrial Genomes of Three Sphenomorphinae Species (Squamata: Scincidae) and the Selective Pressure Analysis on Mitochondrial Genomes of Limbless Isopachys gyldenstolpei

In order to adapt to diverse habitats, organisms often evolve corresponding adaptive mechanisms to cope with their survival needs. The species-rich family of Scincidae contains both limbed and limbless species, which differ fundamentally in their locomotor demands, such as relying on the movement of limbs or only body swing to move. Locomotion requires energy, and different types of locomotion have their own energy requirements. Mitochondria are the energy factories of living things, which provide a lot of energy for various physiological activities of organisms. Therefore, mitochondrial genomes could be tools to explore whether the limb loss of skinks are selected by adaptive evolution. Isopachys gyldenstolpei is a typical limbless skink. Here, we report the complete mitochondrial genomes of I. gyldenstolpei, Sphenomorphus indicus, and Tropidophorus hainanus. The latter two species were included as limbed comparator species to the limbless I. gyldenstolpei. The results showed that the full lengths of the mitochondrial genomes of I. gyldenstolpei, S. indicus, and T. hainanus were 17,210, 16,944, and 17,001 bp, respectively. Three mitochondrial genomes have typical circular double-stranded structures similar to other reptiles, including 13 protein-coding genes, 22 transfer RNAs, 2 ribosomal RNAs, and the control region. Three mitochondrial genomes obtained in this study were combined with fifteen mitochondrially complete genomes of Scincidae in the NCBI database; the phylogenetic relationship between limbless I. gyldenstolpei and limbed skinks (S. indicus and T. hainanus) is discussed. Through BI and ML trees, Sphenomorphinae and Mabuyinae were monophyletic, while the paraphyly of Scincinae was also recovered. The limbless skink I. gyldenstolpei is closer to the species of Tropidophorus, which has formed a sister group with (T. hainanus + T. hangman). In the mitochondrial genome adaptations between limbless I. gyldenstolpei and limbed skinks, one positively selected site was found in the branch-site model analysis, which was located in ND2 (at position 28, BEB value = 0.907). Through analyzing the protein structure and function of the selected site, we found it was distributed in mitochondrial protein complex I. Positive selection of some mitochondrial genes in limbless skinks may be related to the requirement of energy to fit in their locomotion. Further research is still needed to confirm this conclusion though

The first complete mitochondrial genome of Zoodes fulguratus (Gahan 1906) (Coleoptera: Cerambycidae: Cerambycinae) and its phylogeny

Zoodes fulguratus is a common species of Cerambycidae, reported from Vietnam, Nepal, Laos, Burma, and China. To date, no mitochondrial genomes of the genus Zoodes have been reported. In this study, we sequenced and analyzed the first mitochondrial genome of Z. fulguratus to discuss its phylogenetic relationship within the subfamily Cerambycinae. This mitochondrial genome showed the typical insect gene arrangement: a circular molecule of 15,885 bp long with 13 protein-coding genes, two ribosomal RNA genes (rRNAs), and 22 transfer RNA genes (tRNAs). The AT content of the whole mitogenome was 74.2% with a high asymmetric nucleotide presentation revealed by a positive AT-skew (0.067) and a negative GC-skew (–0.178), whereas the AT content of the A + T rich region was 80%. The Maximum likelihood (ML) and Bayesian inference (BI) phylogenetic analyses showed that Z. fulguratus is a sister clade of Gnatholea eburifera

Cryptic Species Exist in Vietnamella sinensis Hsu, 1936 (Insecta: Ephemeroptera) from Studies of Complete Mitochondrial Genomes

Ephemeroptera (Insecta: Pterygota) are widely distributed all over the world with more than 3500 species. During the last decade, the phylogenetic relationships within Ephemeroptera have been a hot topic of research, especially regarding the phylogenetic relationships among Vietnamellidae. In this study, three mitochondrial genomes from three populations of Vienamella sinensis collected from Tonglu (V. sinensis TL), Chun’an (V. sinensis CN), and Qingyuan (V. sinensis QY) in Zhejiang Province, China were compared to discuss the potential existence of cryptic species. We also established their phylogenetic relationship by combining the mt genomes of 69 Ephemeroptera downloaded from NCBI. The mt genomes of V. sinensis TL, V. sinensis CN, and V. sinensis QY showed the same gene arrangement with lengths of 15,674 bp, 15,674 bp, and 15,610 bp, respectively. Comprehensive analyses of these three mt genomes revealed significant differences in mt genome organization, genetic distance, and divergence time. Our results showed that the specimens collected from Chun’an and Tonglu in Zhejiang Province, China belonged to V. sinensis, and the specimens collected from Qingyuan, Zhejiang Province, China were a cryptic species of V. sinensis. In maximum likelihood (ML) and Bayesian inference (BI) phylogenetic trees, the monophyly of the family Vietnamellidae was supported and Vietnamellidae has a close relationship with Ephemerellidae

Three Complete Mitochondrial Genomes of Orestes guangxiensis, Peruphasma schultei, and Phryganistria guangxiensis (Insecta: Phasmatodea) and Their Phylogeny

Insects of the order Phasmatodea are mainly distributed in the tropics and subtropics and are best known for their remarkable camouflage as plants. In this study, we sequenced three complete mitochondrial genomes from three different families: Orestes guangxiensis, Peruphasma schultei, and Phryganistria guangxiensis. The lengths of the three mitochondrial genomes were 15,896 bp, 16,869 bp, and 17,005 bp, respectively, and the gene composition and structure of the three stick insects were identical to those of the most recent common ancestor of insects. The phylogenetic relationships among stick insects have been chaotic for a long time. In order to discuss the intra- and inter-ordinal relationship of Phasmatodea, we used the 13 protein-coding genes (PCGs) of 85 species for maximum likelihood (ML) and Bayesian inference (BI) analyses. Results showed that the internal topological structure of Phasmatodea had a few differences in both ML and BI trees and long-branch attraction (LBA) appeared between Embioptera and Zoraptera, which led to a non-monophyletic Phasmatodea. Consequently, after removal of the Embioptera and Zoraptera species, we re-performed ML and BI analyses with the remaining 81 species, which showed identical topology except for the position of Tectarchus ovobessus (Phasmatodea). We recovered the monophyly of Phasmatodea and the sister-group relationship between Phasmatodea and Mantophasmatodea. Our analyses also recovered the monophyly of Heteropterygidae and the paraphyly of Diapheromeridae, Phasmatidae, Lonchodidae, Lonchodinae, and Clitumninae. In this study, Peruphasma schultei (Pseudophasmatidae), Phraortes sp. YW-2014 (Lonchodidae), and species of Diapheromeridae clustered into the clade of Phasmatidae. Within Heteropterygidae, O. guangxiensis was the sister clade to O. mouhotii belonging to Dataminae, and the relationship of (Heteropteryginae + (Dataminae + Obriminae)) was recovered

The first complete mitochondrial genome of Hexagenia rigida Mc Dunnough, 1924 (Ephemeroptera: Ephemeridae) and its phylogeny

The phylogenetic relationship of Ephemeridae (Insect: Ephemeroptera) remains hotly debated using mitochondrial (mt) genomes. All previously reported mt genomes of Ephemeridae belong to the genus Ephemera. This study provides the first complete mt genome sequence from the genus Hexagenia with an analysis of the mitogenome of Hexagenia rigida Mc Dunnough, 1924 (Ephemeroptera: Ephemeridae) and providing new information to discuss the phylogenetic relationships within Ephemeroptera. The complete mt genome of H. rigida was a circular molecule of 16,159 bp in length, containing 37 genes (2 rRNA genes, 13 protein-coding genes, 22 tRNA genes), which showed the typical mt gene arrangement of insects. The AT content of the whole genome was 70.0% and the length of the control region was 1091 bp. All protein-coding genes used ATN as the start codon, and most PCGs used TAA/TAG as the stop codons excluding COI, COII, ND5 and Cyt b that used T as the stop codon. BI and ML phylogenetic trees constructed from 27 species of 13 families showed that Ephemeridae is a sister clade to the clade Polymitarcyidae