Application of MASCARET for modelling manganese dispersion during a dam-break flood

Water Qualit

Spontaneous hemorrhage of thymus and thymoma in adults

Spontaneous hemorrhage from the thymus is extremely rare. In adults, it may occur in patients without underlying coagulopathy and mimic aortic dissection. To the best of our knowledge, only three previous adult cases have been reported in the English literature. This report presents two additional adult patients who were admitted in our institution with different clinical presentations of spontaneous thymic hemorrhag

Large genomic rearrangements in the CFTR gene contribute to CBAVD

<p>Abstract</p> <p>Background</p> <p>By performing extensive scanning of whole coding and flanking sequences of the <it>CFTR (Cystic Fibrosis Transmembrane Conductance Regulator</it>) gene, we had previously identified point mutations in 167 out of 182 (91.7%) males with isolated congenital bilateral absence of the vas deferens (CBAVD). Conventional PCR-based methods of mutation analysis do not detect gross DNA lesions. In this study, we looked for large rearrangements within the whole <it>CFTR </it>locus in the 32 CBAVD patients with only one or no mutation.</p> <p>Methods</p> <p>We developed a semi-quantitative fluorescent PCR assay (SQF-PCR), which relies on the comparison of the fluorescent profiles of multiplex PCR fragments obtained from different DNA samples. We confirmed the gross alterations by junction fragment amplification and identified their breakpoints by direct sequencing.</p> <p>Results</p> <p>We detected two large genomic heterozygous deletions, one encompassing exon 2 (c.54-5811_c.164+2186del8108ins182) [or <it>CFTRdele2</it>], the other removing exons 22 to 24 (c.3964-3890_c.4443+3143del9454ins5) [or <it>CFTRdele 22_24</it>], in two males carrying a typical CBAVD mutation on the other parental <it>CFTR </it>allele. We present the first bioinformatic tool for exon phasing of the <it>CFTR </it>gene, which can help to rename the exons and the nomenclature of small mutations according to international recommendations and to predict the consequence of large rearrangements on the open reading frame.</p> <p>Conclusion</p> <p>Identification of large rearrangements further expands the <it>CFTR </it>mutational spectrum in CBAVD and should now be systematically investigated. We have designed a simple test to specifically detect the presence or absence of the two rearrangements identified in this study.</p

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus

Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. However, there are no available standardized protocols, so that each center has to develop its own diagnostic strategies and procedures. Furthermore, reproductive decisions are complicated by the diversity of disease-causing variants in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and the complexity of correlations between genotypes and associated phenotypes, so that attitudes and practices toward the risks for future offspring can vary greatly between countries. On behalf of the EuroGentest Network, eighteen experts in PGD and/or molecular diagnosis of CF from seven countries attended a workshop held in Montpellier, France, on 14 December 2011. Building on the best practice guidelines for amplification-based PGD established by ESHRE (European Society of Human Reproduction and Embryology), the goal of this meeting was to formulate specific guidelines for CF-PGD in order to contribute to a better harmonization of practices across Europe. Different topics were covered including variant nomenclature, inclusion criteria, genetic counseling, PGD strategy and reporting of results. The recommendations are summarized here, and updated information on the clinical significance of CFTR variants and associated phenotypes is presented

EOC-une évaluation ouverte et collaborative entre pairs: analyse critique du dispositif de La Revue LEeE.

International audienc

EOC - une évaluation ouverte et collaborative entre pairs : analyse critique du dispositif de La Revue LEeE

Cet article présente la conception et l’analyse d’un dispositif d’évaluation entre pairs dans le cadre de La Revue LEeE, du point de vue plus spécialement des rôles et des activités des évaluateurs et des évaluatrices. La première partie expose un ensemble de critiques énoncées par la littérature de recherche à propos de l’évaluation en double aveugle, puis présente des perspectives nouvelles par le moyen d’évaluations ouvertes entre pairs exploitant des outils numériques. La deuxième partie du texte présente l’étude du dispositif d’évaluation ouverte et collaborative (EOC) telle que proposée par La Revue LEeE. Les caractéristiques qui définissent cette EOC sont mises en évidence, et une analyse critique de la structure temporelle et organisationnelle du dispositif est proposée au regard plus spécialement des enjeux de collaboration visés. La position du comité éditorial de la revue est de contribuer à un changement de paradigme dont l’émergence commence à s’observer en sciences sociales et humaines, grâce à la conception d’évaluations ouvertes entre pairs exploitant les possibilités du numérique. L’article se termine avec la présentation d’un questionnaire visant à effectuer un suivi auprès des auteur∙rices et rétroacteur∙rices de la revue