NMNAT1 Mutations Cause Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease genes (RetNet Retinal Information Network). Using exome sequencing, we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in NMNAT1 as likely disease-causing in two siblings of a consanguineous Pakistani kindred affected by LCA. This mutation segregated with disease in their kindred, including in three other children with LCA. NMNAT1 resides in the previously identified LCA9 locus and encodes the nuclear isoform of nicotinamide mononucleotide adenylyltransferase, a rate-limiting enzyme in nicotinamide adenine dinucleotide $(NAD^+)$ biosynthesis. Functional studies showed the p.Val9Met mutation decreased NMNAT1 enzyme activity. Sequencing NMNAT1 in 284 unrelated LCA families identified 14 rare mutations in 13 additional affected individuals. These results are the first to link an NMNAT isoform to disease and indicate that NMNAT1 mutations cause LCA

In vitro studies and preliminary in vivo evaluation of silicified concentrated collagen hydrogels

Hybrid and nanocomposite silicacollagen materials derived from concentrated collagen hydrogels were evaluated in vitro and in vivo to establish their potentialities for biological dressings. Silicification significantly improved the mechanical and thermal stability of the collagen network within the hybrid systems. Nanocomposites were found to favor the metabolic activity of immobilized human dermal fibroblastswhile decreasing the hydrogel contraction. Cell adhesion experiments suggested that in vitro cell behavior was dictated by mechanical properties and surface structure of the scaffold. First-to-date in vivo implantation of bulk hydrogels in subcutaneous sites of rats was performed over the vascular inflammatory period. These materials were colonized and vascularized without inducing strong inflammatory response. These data raise reasonable hope for the future application of silicacollagen biomaterials as biological dressings.Fil: Desimone, Martín Federico. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Metabolismo del Fármaco. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Instituto de Química y Metabolismo del Fármaco; ArgentinaFil: Hélary, Christophe. Université Pierre et Marie Curie; FranciaFil: Quignard, Sandrine. Université Pierre et Marie Curie; FranciaFil: Rietveld, Ivo B. Universite de Paris; FranciaFil: Bataille, Clement. Université de Versailles Saint-quentin-en-yvelines.; FranciaFil: Copello, Guillermo Javier. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Metabolismo del Fármaco. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Instituto de Química y Metabolismo del Fármaco; ArgentinaFil: Mosser, Gervaise. Université Pierre et Marie Curie; FranciaFil: Giraud Guille, Marie-Madeleine. Université Pierre et Marie Curie; FranciaFil: Livage, Jacques. Université Pierre et Marie Curie; FranciaFil: Meddahi Pellé, Anne. Université de Versailles Saint-quentin-en-yvelines.; FranciaFil: Coradin, Thibaud. Université Pierre et Marie Curie; Franci

Revisiting the Effects of Gender Diversity in Small Groups on Divergent Thinking: A Large-Scale Study Using Synchronous Electronic Brainstorming

Numerous studies have examined the effects of gender diversity in groups on creative performance, and no clear effect has been identified. Findings depend on situational cues making gender diversity more or less salient in groups. A large-scale study on two cohorts (N = 2,261) was conducted among business students to examine the impact of the gender diversity in small groups on divergent thinking in an idea-generation task performed by synchronous electronic brainstorming. Participants were automatically randomized in three- or four-member groups to generate ideas during 10 min on a gendered or neutral task. Then, five categories of groups where the proportion of men/women in groups varied from three/four men to three/four women were compared to examine creative performance on three divergent thinking measures (fluency, flexibility, and originality). A Multivariate Generalized Linear Mixed Model (mGLMM) showed greater fluency in all-women groups than in other groups (except mixed-gender groups composed of two men and two women), and more specifically “solo” groups composed of a single woman/man among a majority of men/women. For flexibility and originality, the superiority of all-women groups was found only in comparison to “solo” groups composed of a single woman. As gender differences are more salient in “solo” groups than in other groups faultlines may appear in groups, leading to a deleterious impact on creative performance

Prospective longitudinal study over the physical development and medical data of full-term singleton ICSI children compared to IVF and spontaneously conceived children

info:eu-repo/semantics/published16th Annual Meeting of ESHRE, Bologna Italy, June 200

A prospective longitudinal study of singleton ICSI children compared to IVF and spontaneously conceived children shows no differences in psychomotor and intellectual development over the whole preschool period

info:eu-repo/semantics/publishedAbstract pour le 17th annual meeting of the ESHRE, Lausanne 200

A prospective longitudinal study of the physical, psychomotor, and intellectual development of singleton children up to 5 years who were conceived by intracytoplasmic sperm injection compared with children conceived spontaneously and by in vitro fertilization

Objective: To assess the somatic, psychomotor, and intellectual development of children conceived through intracytoplasmic single sperm injection (ICSI) over the whole preschool period. Design: Prospective, controlled, cohort study. Setting: Fertility clinic in Brussels, Belgium. Patient(s): Sixty-six ICSI-conceived children prospectively compared with 52 IVF-conceived and 59 spontaneously conceived children. All children were full-term singletons. Intervention(s): Home visits by a trained psychologist. Standardized interviews. Assessments using the revised Brunet-Lézine scale and the revised Wechsler preschool and primary scale of intelligence. Main Outcome Measure(s): Physical growth and general health. Formal developmental and intellectual assessments. Result(s): Children conceived by ICSI were healthy: no significant differences appeared in the incidence of combined congenital malformations (11.3%), health problems (44.1%), surgical interventions (18.6%), and hospitalizations (6.8%), nor for the developmental assessments (mean developmental quotient at 9 months: 93.9; at 18 months: 102.0). For the intellectual assessments, the between-group differences disappeared when adjusted for levels of parental education (mean intelligence quotient at 3 years: 97.0; at 5 years: 103.3). Conclusion(s): This pilot study shows that throughout the preschool period, ICSI-conceived children have psychomotor and intellectual development similar to that of IVF-conceived and spontaneously conceived children. These conclusions need to be confirmed by multicenter studies. © 2003 by American Society for Reproductive Medicine.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

ICSI families: parental attitudes about disclosure of the method of conception to their offspring

info:eu-repo/semantics/publishe

La préservation ovocytaire de convenance :une vision sociétale

info:eu-repo/semantics/publishe

Psychological charactéristics, motivations and risk perception among HIV-serodiscordant couples requesting assisted reproduction to have children

info:eu-repo/semantics/publishedPoster pour 21ème annual meeting ESHRE 19-22/6/2005 à Copenhage

Construire de manière assistée une cellule familiale

info:eu-repo/semantics/publishe