Truncus arteriosus communis: report of three cases and review of literature

Background: Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk.Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins.Methods: We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH).Results: Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal.Conclusion: Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.Keywords: Truncus arteriosus, conotruncal heart malformation, congenital heart defect, genetic etiologies

An integrated 4249 marker FISH/RH map of the canine genome

BACKGROUND: The 156 breeds of dog recognized by the American Kennel Club offer a unique opportunity to map genes important in genetic variation. Each breed features a defining constellation of morphological and behavioral traits, often generated by deliberate crossing of closely related individuals, leading to a high rate of genetic disease in many breeds. Understanding the genetic basis of both phenotypic variation and disease susceptibility in the dog provides new ways in which to dissect the genetics of human health and biology. RESULTS: To facilitate both genetic mapping and cloning efforts, we have constructed an integrated canine genome map that is both dense and accurate. The resulting resource encompasses 4249 markers, and was constructed using the RHDF5000-2 whole genome radiation hybrid panel. The radiation hybrid (RH) map features a density of one marker every 900 Kb and contains 1760 bacterial artificial chromosome clones (BACs) localized to 1423 unique positions, 851 of which have also been mapped by fluorescence in situ hybridization (FISH). The two data sets show excellent concordance. Excluding the Y chromosome, the map features an RH/FISH mapped BAC every 3.5 Mb and an RH mapped BAC-end, on average, every 2 Mb. For 2233 markers, the orthologous human genes have been established, allowing the identification of 79 conserved segments (CS) between the dog and human genomes, dramatically extending the length of most previously described CS. CONCLUSIONS: These results provide a necessary resource for the canine genome mapping community to undertake positional cloning experiments and provide new insights into the comparative canine-human genome maps

L’immigration francophone dans les territoires et l’ouest canadien : Réalités et perspectives après 10 ans d’accueil et de services

Cet article se base sur les résultats d’une enquête quantitative et qualitative, menée en 2016 dans quatre provinces de l’Ouest canadien ainsi que dans les Territoires du Nord-Ouest, le Yukon et le Nunavut, visant à déterminer les défis et enjeux des immigrants francophones et à analyser le rôle des services d’accueil francophones dans leur intégration. Cette recherche se place délibérément du point de vue de l’immigrant puisque 587 personnes ont été interrogées par téléphone et 68 nouveaux arrivants ont été consultés lors de groupes de consultation dans ces différentes provinces et territoires. Abstract This article discusses the results of a quantitative and qualitative research, conducted in 2016 in four provinces (Manitoba, Alberta, Saskatchewan, British Columbia) and the North West Territories. This study aimed to identify the challenges of Francophone immigrants and the role of the Francophone settlement services in their integration. We interviewed 587 people by phone calls and 68 new immigrants during focus groups in each province and territories. Our main question was how the Francophone settlement services, developed more than 10 years ago by the federal government, meet the needs of new Francophone immigrants? More than ever, this question is worth exploring, considering that, as noted in the research (Houle et al., 2014), the ethnic origins of new Francophone immigrants are more and more diversified, and the source of immigration are from non-traditional European countries. After describing the profile and the needs of Francophone immigrants participating in this research, we discuss the challenges and expectations that they experienced with respect to using the Francophone settlement services. In the end, we discuss the convergence and divergence between the immigrants’ needs and expectations and the Francophone settlement services offered

Récits de vie de jeunes immigrants diplômés des écoles de langue française à Toronto et à Edmonton

L’article porte sur les trajectoires de vie de deux jeunes hommes, Benjamin et Pierre, issus de l’immigration qui vivent dans les communautés francophones de Toronto et d’Edmonton. Grâce au récit de vie, nous examinons de près les processus à l’oeuvre dans leur expérience d’intégration scolaire et sociale. Nous partons du principe que l’intégration est un processus social dynamique, inscrit dans le long terme, multidimensionnel et non linéaire. Ce regard porté à la notion d’intégration reconnaît que ce processus se déroule sur un continuum intégrant l’expérience pré et post-migratoire de la personne immigrée. Comment Benjamin et Pierre décrivent-ils leur expérience d’immigration? Comment se représentent-ils leur intégration tant scolaire que sociale au moment de leur arrivée? Les récits de migrations des deux jeunes gens, exprimés dans leurs récits de vie, témoignent de la complexité du processus migratoire entre projet familial, rapport d’altérité et motilité (Kaufmann et Widmer, 2005).The article focuses on the life trajectories of two young men, Benjamin and Pierre, from immigrant backgrounds who live in the Francophone communities of Toronto and Edmonton. Through the use of life stories, we examine closely the processes at work in their experience of academic and social integration. We assume that integration is a dynamic, long-term, multidimensional, and nonlinear social process. This view of integration recognizes that the process takes place on a continuum that includes the pre- and post-migration experience of the immigrant. How do Benjamin and Pierre describe their immigration experience? How do they represent their integration, both academic and social, at the time of their arrival? The migration stories of the two young men, expressed in their life stories, testify to the complexity of the migratory process between family project, relationship of otherness, and motility (Kaufmann & Widmer, 2005)

INEDUC: pratiques numériques des adolescents et territoires

National audienc

Sugar beet (Beta vulgaris) pectins are covalently cross-linked through diferulic bridges in the cell wall

International audienc

Quels oiseaux dans la ville ?: Une étude pluridisciplinaire d'un même gradient urbain

National audienc

Retrospective National “Real Life” Experience of the SFCE with the Metronomic MEMMAT and MEMMAT-like Protocol

Background: Relapses in pediatric high-risk brain tumors remain unmet medical needs. Over the last 15 years, metronomic chemotherapy has gradually emerged as an alternative therapeutic approach. Patients and Methods: This is a national retrospective study of patients with relapsing pediatric brain tumors treated according to the MEMMAT or MEMMAT-like regimen from 2010 to 2022. Treatment consisted of daily oral thalidomide, fenofibrate, and celecoxib, and alternating 21-day cycles of metronomic etoposide and cyclophosphamide associated with bevacizumab and intraventricular chemotherapy. Results: Forty-one patients were included. The most frequent malignancies were medulloblastoma (22) and ATRT (8). Overall, the best responses were CR in eight patients (20%), PR in three patients (7%), and SD in three patients (7%), for a clinical benefit rate of 34%. The median overall survival was 26 months (IC95% = 12.4–42.7), and median EFS was 9.7 months (IC95% = 6.0–18.6). The most frequent grade ¾ toxicities were hematological. Dose had to be adjusted in 27% of the cases. There was no statistical difference in outcome between full or modified MEMMAT. The best setting seems to be when MEMMAT is used as a maintenance and at first relapse. Conclusions: The metronomic MEMMAT combination can lead to sustained control of relapsed high-risk pediatric brain tumors

Retrospective National “Real Life” Experience of the SFCE with the Metronomic MEMMAT and MEMMAT-like Protocol

Background: Relapses in pediatric high-risk brain tumors remain unmet medical needs. Over the last 15 years, metronomic chemotherapy has gradually emerged as an alternative therapeutic approach. Patients and Methods: This is a national retrospective study of patients with relapsing pediatric brain tumors treated according to the MEMMAT or MEMMAT-like regimen from 2010 to 2022. Treatment consisted of daily oral thalidomide, fenofibrate, and celecoxib, and alternating 21-day cycles of metronomic etoposide and cyclophosphamide associated with bevacizumab and intraventricular chemotherapy. Results: Forty-one patients were included. The most frequent malignancies were medulloblastoma (22) and ATRT (8). Overall, the best responses were CR in eight patients (20%), PR in three patients (7%), and SD in three patients (7%), for a clinical benefit rate of 34%. The median overall survival was 26 months (IC95% = 12.4–42.7), and median EFS was 9.7 months (IC95% = 6.0–18.6). The most frequent grade ¾ toxicities were hematological. Dose had to be adjusted in 27% of the cases. There was no statistical difference in outcome between full or modified MEMMAT. The best setting seems to be when MEMMAT is used as a maintenance and at first relapse. Conclusions: The metronomic MEMMAT combination can lead to sustained control of relapsed high-risk pediatric brain tumors