Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, but poorly studied in Africa. Its frequency in the University Clinic of Nephrology and Hemodialysis of Cotonou during the ten last years was 7 cases per year with a hospital prevalence estimated at 18 per 1000. The mean age of patients was 47.2 years extending from 29 to 70 years. Males were predominant with a sex ratio of 1.13. Family history was found in 47% of patients. The most common manifestations were lumbar pain (62%), high blood pressure (59%) urinary tract infections (53%), hematuria (46%), and abdominal masses (43%). Hepatic cysts were the most extra renal manifestations, found in 34% of cases. Renal failure was observed in 72% of patients of our series, six of them were under dialysis. Direct sequencing of polycystin 1 gene enabled us to identify some new mutations: 4 nonsense mutations (p.Q2824X exon 23, p.Q1651X exon 15, p.W1666X exon 15, p.R966W exon 12), a duplication (c_1761.1745 dup exon 9), a deletion (c.9397 + 1_9397 + 8del intron 26) and a deletion-insertion (c.7290_7291delins CTGCA exon 18).

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.

The responsibility of the uteropelvic junction (UPJ) syndrome or abnormalities for renal affections and also for high obstructive uropathy is well-known. But, controversies still remain about the anatomic approach of this clinical feature. Our purpose is to elucidate the developmental anatomy of UPJ and eventually to set the steps of the anatomic approach of the UPJ abnormalities. This study also leads to a better understanding of the mechanism of the intrinsic ureteropelvic junction obstructions. A total number of 122 post-mortem specimens with ages ranging from 1 day to 30 months in both sexes underwent formalin treatment for histological investigation. We performed both transverse and longitudinal sections. Hematein-eosin-safran and Masson's trichrome staining were used. Histological examination revealed that myoarchitecture of UPJ set increasingly up. Circular muscle fibers were first to put in. They had an initial arrangement as a ring in neonates and infants. We conclude that circular layer appears first and sooner than others. On the other hand, coincidence in time between ages of our specimens and ages of patients sufferning from UPJ syndrome leads to further investigations to determine the implication of ring-shaped circular layer in intrinsic ureteropelvic junction obstruction.

Administrated by intra-peritoneal way at 1350mg/kg/day during 18 days, essential oil of Melaleuca quinqueotervia (chemotype 1,8-cineole 50,5%) has shown toxicity in pregnant Wistar rate, it's embryo and foetuses. This treatment induced pregnancy rate decrease by 10, 12 %, maternal death rate increase by 11, 11 %, liver and kidney's mean weight increase respectively by 0, 56 g and 0 62 g; uterine horns' atrophy and hepatic steatoisi. It was also be nnoticed early in utero death rate's increase and embryo resorption;finally, a fall in the farrow, a small birth weight and liver tissue destruction with inflammatory cells Although the doses used in aromatherapy (5,7mg/kg/jour) are widely below that of our works, caution is recommended in the pregnant women.

Les anomalies de la jonction pyélo-urétérale (JPU) sont de plus en plus incriminées dans les affections rénales en général et les uropathies obstructives en particulier. Cependant, la base anatomique du mécanisme étiopathogénique de ces uropathies obstructives hautes demeure un sujet de controverse. La présente étude, prospective et microanatomique a pour préoccupation le développement de la myoarchitecture de la JPU et se propose d’apporter un substratum anatomique au mécanisme étiopathogénique de l’obstruction de la JPU dans les uropathies hautes chez les nouveau-nés et les enfants.

REVUE INTERNATIONALE FRANCOPHONE D'ÉDUCATION MÉDICALE Monsieur,Nous souhaitons par la présente vous faire part de notre expérience de co-développement de ressources multimédia dans le cadre d'un accord de coopération inter-établissement, soutenu par le Mi n i s t è re des Affaires Et ra n g è re s f rançais.Le Ce n t re MEPS (Matériels Educatifs pour la

Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.

Le syndrome d'Apert est une acrocephalosyndactylie qui fait partie du grand groupe des crânio-facio-stenoses. Il est caracterise par une dysmorphie crânio-faciale et une syndactylie aux mains et aux pieds qui la differencie de la maladie de Crouzon. C'est une affection rare qui est le plus souvent transmise selon un mode autosomique dominant, mais des cas sporadiques existent. Nous rapportons le cas d'une jeune fille de 15 ans qui presente des signes cliniques caracteristiques du syndrome d'Apert avec un caryotype normal sans notion de consanguinite parentale. La mutation Ser 252 Trp du gene FGFR2 a ete retrouvee confirmant le diagnostic moleculaire. Cette etude illustre la gravite des troubles visuels et neurologiques du syndrome d'Apert non traite. La presence en plus d'une hemoglobinopathie (Hb AS) en fait son originalite.

Here we report the association of giant platelets and an increase in platelet volume in a 19-month-old black female with de novo del 11q24-qter. The deletion, which was visible on karyotype, was further confirmed and more precisely localized by fluorescence in situ hybridization studies (FISH) that showed the deletion to lie distal to the MLL gene region (11q23). Clinically, the case presented less severe symptoms than Jacobsen syndrome-the well known partial deletion of the distal end of chromosome 11. Platelet glycoproteins CD 41, CD 42a, C 42b, CD 61, and PAC-1 were also assayed and found to be normally expressed. To our knowledge, giant platelets are described for the first time in the relevant deleted region.