Vaccines against toxoplasma gondii : challenges and opportunities

Development of vaccines against Toxoplasma gondii infection in humans is of high priority, given the high burden of disease in some areas of the world like South America, and the lack of effective drugs with few adverse effects. Rodent models have been used in research on vaccines against T. gondii over the past decades. However, regardless of the vaccine construct, the vaccines have not been able to induce protective immunity when the organism is challenged with T. gondii, either directly or via a vector. Only a few live, attenuated T. gondii strains used for immunization have been able to confer protective immunity, which is measured by a lack of tissue cysts after challenge. Furthermore, challenge with low virulence strains, especially strains with genotype II, will probably be insufficient to provide protection against the more virulent T. gondii strains, such as those with genotypes I or II, or those genotypes from South America not belonging to genotype I, II or III. Future studies should use animal models besides rodents, and challenges should be performed with at least one genotype II T. gondii and one of the more virulent genotypes. Endpoints like maternal-foetal transmission and prevention of eye disease are important in addition to the traditional endpoint of survival or reduction in numbers of brain cysts after challenge

Hygroma colli au premier trimestre de la grossesse (intérêt de la CGH array devant un hygroma colli isolé chez les foetus à caryotype normal.)

STRASBOURG-Medecine (674822101) / SudocSudocFranceF

SYNDROME DE PALLISTER-KILLIAN (TETRASOMIE 12P) (DES GENETIQUE MEDICALE)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Propositions pour la mise en place d’un enseignement interprofessionnel entre étudiants sages-femmes et internes de médecine générale à l’Université de Lyon

Contexte : La loi HPST (2009) introduit le suivi gynécologique de prévention et la prescription de contraception en dehors de la grossesse dans les compétences des sages-femmes. Médecins généralistes et sages-femmes ont des compétences communes décrites pour chaque profession dans un référentiel métier et compétences. Il convient de connaître et d’articuler ces compétences dès la formation initiale pour exercer ensuite en coopération. But : Recueillir les propositions des enseignants et enseignés de maïeutique et de médecine générale de l’université de Lyon à propos d’un futur enseignement commun entre étudiants des deux filières. Méthodes : Une étude qualitative exploratrice dans le champ de la planification pédagogique a été conduite à l’aide de groupes de discussion focalisée et d’entretiens individuels semi-structurés. Les participants étaient respectivement des enseignants et des enseignés des deux filières de l’université. Les thèmes explorés  étaient les étudiants concernés, le moment pour le réaliser, le contenu, la forme pédagogique, l’encadrement, la fréquence et l’objectif attendu. Résultats : Cet enseignement interprofessionnel se baserait sur des cas cliniques inspirés de familles de situations cliniques issus des référentiels métiers et compétences. Il concernerait les étudiants en fin de cursus. Le travail s’effectuerait en petits groupes encadrés par un binôme médecin généraliste et sage-femme, formés à la pédagogie et ayant une activité clinique. L’enseignement comprendrait : la présentation des deux professions, une analyse de pratiques à partir de cas cliniques rapportés et une synthèse. L’intérêt serait de mieux connaître le champ de compétences des deux professions. Conclusion : Cette étude définit les caractéristiques d’un enseignement interprofessionnel de maïeutique et médecine générale, qui puisse répondre aux attentes de chacune des filières qui se connaissent peu

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

International audienceBardet-Biedl syndrome (BBS) is an inherited ciliopathy generally associated with severe obesity, but the underlying mechanism remains hypothetical and is generally proposed to be of neuroendocrine origin. In this study, we show that while the proliferating preadipocytes or mature adipocytes are nonciliated in culture, a typical primary cilium is present in differentiating preadipocytes. This transient cilium carries receptors for Wnt and Hedgehog pathways, linking this organelle to previously described regulatory pathways of adipogenesis. We also show that the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the glycogen synthase kinase 3 pathway, and induces peroxisome proliferator-activated receptor nuclear accumulation, hence favoring adipogenesis. Moreover, adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

BackgroundBardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signalling receptors to and from cilia.Methods and resultsExome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. This mutation is pathogenic since no BBIP1 protein could be detected in fibroblasts from the patient, and BBIP1[Leu58*] is unable to associate with the BBSome subunit BBS4.ConclusionsThese findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

BackgroundBardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signalling receptors to and from cilia.Methods and resultsExome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. This mutation is pathogenic since no BBIP1 protein could be detected in fibroblasts from the patient, and BBIP1[Leu58*] is unable to associate with the BBSome subunit BBS4.ConclusionsThese findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS