Ring chromosome is a disorder in which one or both ends of chromosome are lost and joined, so they could show a ring-shaped structure. Patients with ring chromosome could therefore present with features of deletion of long or short arms of the chromosome syndromes or a combination of both. Phenotypic of these individuals depends on the size of the ring chromosome, amount of genetic material lost in breakage, the stability of the ring chromosome and the presence of secondary chromosomal aberrations including the varying degrees of mosaicism. Ring chromosomes accounts for a very low percentage of structural chromosomal abnormalities but could lead to a major clinical concern and complicated genetic counseling. Practitioner awareness must be permanently raised up to help in managing with efficacy patient with ring condition. We report here 4 cases of ring on chromosome 4, 9, 15 and X. We described their clinical finding and draw attention on common key signs that were present in the reported cases and also discussed recurrence risk.

La pollution des eaux continentales constitue l’un des problèmes majeurs dans plusieurs régions du Bénin. La rivière Okpara et ses effluents sont soumis à de fortes pressions anthropiques liées aux intrants chimiques agricoles et aux micropolluants charriés. Cette eau de surface traverse Kika (commune de Tchaourou) où les riverains l’utilisent comme source d’eau de boisson. Afin d’évaluer les risques sanitaires encourus par cette population du fait de cette exposition, une étude cytogénétique à la recherche des dommages produits au matériel génétique (ADN) a été réalisée. Les micronoyaux (MN) ont été recherchés et l’indice de prolifération cellulaire (IP) a été calculé chez les riverains habitant Kika, personnes exposées (PE) en comparaison avec des personnes non exposées (PNE). Le taux de micronoyaux est significativement plus élevé (62,24 ± 3,88) chez les PE (Kika) par rapport aux PNE (2,92 ± 0,39). Quant à l’indice de prolifération, elle est significativement plus faible (1,50 ± 0,04) chez les PE (Kika) que chez les PNE (2,20 ± 0,06). Ces résultats attestent du risque de génotoxicité lié à la consommation de l'eau de la rivière de Kika.Mots clés: Génotoxicité, micronoyaux, pollution, indice de prolifération cellulaire

Launaea taraxacifolia is a leaf vegetable consumed in several African countries including Nigeria, Ghana and Benin. It is eaten as salad, sauce and infusion to fight against certain diseases including liver diseases, diabetes and hypertension. The hydroethanolic extract of Launaea taraxacifolia leaves is rich in polyphenols (phenolic acids, flavonoids and tannins catechists) and would have antioxidant and hypolipidaemic activities. In this work we studied the effect of the hydroethanolic extract of the plant on blood sugar, cholesterol and triglycerides levels in Wistar rats. We also examined the effect of treatment on liver and kidney histology of treated rats to detect possible cytotoxic effects. Three groups of five Wistar rats were used for daily treatment during 15 days. The first group of control rats received water, the second group received 300mg per kg of body weight of extract and the third group received 500mg per kg of body weight. Our results showed that the doses of the extract used have no effect on blood glucose in rats. By cons we note a significant lowering effect on cholesterol and triglycerides levels by comparing the blood lipids levels in the control and treated rats. The hepatic and renal histology showed no visible atypia. Considering the direct link between cholesterol, triglycerides and heart diseases, regular consumption of Launaea taraxacifolia leaves may help to prevent cardiovascular diseases.

The hypoglycemic, hypotensive and antioxidant effects of Tridax procumbens have been fundamentally studied in India where the plant is widely used for its medicinal properties.In this work, we treated Wistar rats with two doses of leaves and stems hydroethanolic extract of Benin species of Tridax procumbens every day for 15 days.Three groups of 5 rats were formed, the first control group was treated with 1 ml of water every day, the second group was treated with 1ml of 300mg / kg body weight of extract and the third group was treated with a dose of 500mg / kg body weight every day.Histological studies of the liver and kidney of untreated and treated animals was made to check the toxicity of the extract.Our results demonstrated after 15 days of treatment that none of the doses used has a significant effect on rat blood sugar however we observed a dose dependent effect on lowering blood cholesterol levels compared to controls and a decrease of blood triglycerides levels by the dose of 300mg / kg body weight compared to controls.The two doses used were not toxic to the liver or the kidneys.Tridax procumbens hydroethanolic extract through its regulation of lipid levels in the blood of Wistar rats could fight against dyslipidemia in obese, added to its antioxidant activity the extract could prevent type II diabetes and cardiovascular diseases.

The present work was carried out to investigate the antihypertensive properties of fractions Gmelina arborea aqueous extract, one of the medicinal plants used in the treatment of arterial hypertension. Fractions of Gmelina arborea leaves were obtained by liquid-liquid extraction and by sephadex gel chromatography. The chemical screening and detection of anti-oxidant activity of extracts and fractions were performed by thin layer chromatography. Antihypertensive effect has been studied by administration of the extracts and fractions at the dose of 30mg/kg of body weight to wistar rats made hypertensive by L-NAME treatment. Rat arterial blood pressure was measured by carotid catheterization. Eight fractions named F1, F2, F3 and E1, E2, E3, E4, E5 were obtained. Altogether, flavonoids, tannins, saponins, alkaloids, anthracens, napthtoquinons and coumarins were detected in the fractions. Except F3 fraction, all the other extracts and fractions have shown antioxydant activity. F2 fraction, E1 and E3 extracts induced significant reduction of rat mean arterial pressure from 165.5 ± 2.7mm Hg to respectively 121± 1,1mm Hg, 128.5± 2,8mm Hg and 134.2±4 mm Hg. These data suggest that the antihypertensive activity of the leaves of Gmelina arborea could be related to flavonoids compounds alone or synergistically with alkaloids and tannins compounds.

Les anomalies du developpement sexuel doivent etre detectees a la naissance ou elles constituent une urgence neonatale. Ce qui n’est pas le cas souvent dans les pays africains ou elles peuvent passer inapercues a la periode neonatale en raison de leur meconnaissance, de leur ignorance ou de la negligence. Nous rapportons dans ce present travail un cas de pseudohermaphrodisme masculin ou anomalie de developpement sexuel XY. Il s’est agi d’une patiente, de sexe social feminin, qui a consulte a l’âge de 24 ans pour une amenorrhee primaire. L’examen echographique a note une absence d’organes genitaux internes. Le caryotype etait de type masculin normal 46, XY. L’analyse de cette observation releve la negligence, la meconnaissance ou l’ignorance des parents face a une ambiguite sexuelle ou le choix arbitraire du sexe social selon la volonte des parents sans demarche medicale pose de lourds problemes pour l’insertion de cet individu dans la societe. Mots cles : Pseudohermaphrodisme masculin, anomalie de developpement sexuel XY, caryotype, sexe social. Anomaly of sexual development: a case of masculine pseudohermaphrodism or anomaly of development sexual XY. The anomalies of the sexual development must be detected to the birth where they constitute an emergency neonatal. What is not often the case in the African countries where they can pass unobserved to the period neonatal because of their ignorance, their ignorance or the carelessness. We return in this present work a case of masculine pseudohermaphrodism or anomaly of development sexual XY. It was about a patient, of feminine social sex, that consulted at the age of 24 years for a primary amenorrhea. The echographia exam noted an absence of internal genitalia. The karyotype was of normal masculine type 46, XY. The analysis of this observation raises the carelessness, the ignorance or the ignorance of the parents facing a sexual ambiguousness where the choice arbitrary of the social sex according to the will of the parents without gait medical pose of heavy problems for this individual's insertion in the society. Key words : masculine pseudohermaphrodism, anomaly of sexual development XY, karyotype, social sex.

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).

En Afrique la sterilite du couple constitue un drame social. Selon l’OMS, environ 8 a 12 % des couples africains sont touches par une infertilite. La responsabilite masculine dans la sterilite est comprise entre 30 a 40%. Les causes de l’infertilite masculine peuvent etre l’impuissance et/ ou l’alteration du sperme. L’etude de l’alteration du sperme est appreciee par le spermogramme et le spermocytogramme. Ces analyses doivent etre realisees par des laboratoires de biologie de la reproduction. Vu la rarete ou l’absence des laboratoires de biologie de la reproduction dans la plupart des pays en voie de developpement notamment au Togo, ces analyses pourront etre realisees par les laboratoires d’analyses medicales courantes. Or les techniciens des laboratoires d’analyses medicales courantes ne sont inities a la pratique de realisation du spermogramme et du spermogramme et du spermocytogramme et pourtant font face a une demande de ces analyses. L’objectif de ce travail est de fournir aux techniciens des laboratoires d’analyses medicales courantes du Togo et des pays en voie de developpement un outil simple sur les pratiques de realisation du spermogramme et du spermocytogramme. Mots cles : Spermogramme, spermocytogramme, fiche technique. Data sheet of realization and interpretation of the spermogram and the spermocytogram. In Africa the sterility of the couple constitutes a social drama. According to the WHO, about 8 to 12% of the African couples are touched by an infertility. Of the masculine responsibility in the sterility is consisted between 30 to 40%. The reasons of the masculine infertility can be the impotence and / or the impairment of the semen. The study of the impairment of the semen is appreciated by the spermogram and the spermocytogram. These analyses must be achieved by laboratories of reproduction biology. Seen the rarity or the absence of the laboratories of reproduction biology notably in most developing countries to Togo, these analyses will be able to be achieved by the laboratories of current medical analyses. However the technicians of the laboratories of current medical analyses didn't start learning the practice of realization of the spermogram and the spermocytogram and yet makes facing a demand of these analyses. The objective of this work is to provide to the technicians of the laboratories of medical analyses current of Togo and developing countries a simple tool on the practices of realization of the record of semen and the spermocytogramme. Key words : Spermogram, spermocytogram, data sheet.

Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations.

Ring chromosome 4 associates concomitant loss of the telomeric 4p and 4q regions and leads to variable clinical manifestations depending on the size of the deleted chromosomal material. We report on a patient with ring chromosome 4, showing the Wolf-Hirshhorn Syndrome (WHS) phenotype and minor symptoms of distal 4q deletion syndrome; the severity of the signs of WHS masks the symptomatology of the 4q deletion syndrome. The absence of seizures despite the absence of the specific 4p16.3 region with haploinsufficiency of the LETM1 gene is striking. The double telomeric deletion due to the ring chromosome formation confirmed by FISH has been rarely described in WHS.