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7 result(s) for "Ben Ali, Yasmina"
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Les Coniques en 4ième Année de l'enseignement Secondaire Tunisienne
Le présent article présente un résumé de la recherche menée dans le cadre de notre mémoire en didactique des mathématiques qui a pour objectif d'étudier le concept des coniques1 à la fin de l'enseignement secondaire en Tunisie. Notre travail rend compte d'une étude historique et d'une étude praxéologique suivant les aspects synthétique et analytique. Une investigation historique sur le concept des coniques dont l'intérêt porte sur les aspects géométriques auxquels se réfère cette étude à savoir les aspects synthétiques, algébriques ou analytiques. Une étude didactique qui se compose de deux sections. La première section est basée essentiellement sur une étude des deux réformes : 1993 et 2002, et des deux programmes éventuels : 1993 et 2006, suivie des analyses praxéologiques des manuels relatifs à ces deux programmes. La deuxième section est un questionnaire auprès des enseignants de mathématiques du lycée, autour de l'enseignement des coniques.
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1. Methods Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype‐phenotype correlations. The clinical diagnosis was based on the criteria defined by the international expert consensus of BWS. Molecular study of 11p15.5 methylation status was assessed using methylation‐specific‐multiplex ligation probe amplification (MS‐MLPA). Results Patients were aged 12 months and 3 months and fulfilled the clinical score of BWS. MS‐MLPA showed molecular alterations consisting of loss of methylation in IC2 (IC2‐LOM) at the maternal allele for one patient and a mosaic UPD(11)pat for the second patient in whom follow‐up at 6months revealed adrenocortical carcinoma (ACC) with low grade of malignancy. Molecular subtypes guide the follow‐up and tumor surveillance, our major concern. Conclusion We have to take into account the psychological impact of a possible tumor whatever the underlying mechanism is. Nevertheless, the tumor risk remains high for UPD(11)pat. Our study extended the phenotype of BWS with absence of macrosomia in Tunisian patients, contrasting with literature, and added a supplementary case of ACC in the tumor spectrum of BWS patients with UPD(11)pat. BWS is a rare overgrowth syndrome predisposing to various tumors. Our major concern is the multidisciplinary follow‐up to early screen tumors. Pathologists should evoke BWS in pediatric isolated adrenocortical tumors. International Databases are necessary to underline BWS’s characteristics.
Genome Tunisia Project: paving the way for precision medicine in North Africa
Background Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022–2035) which aims to deliver the reference sequence of the Tunisian Genome and to support the implementation of personalized medicine in Tunisia, a North African country that represents a central hub of population admixture and human migration between African, European, and Asian populations. The main goal of this initiative is to develop a healthcare system capable of incorporating omics data for use in routine medical practice, enabling medical doctors to better prevent, diagnose, and treat patients. Methods A multidisciplinary partnership involving Tunisian experts from different institutions has come to discern all requirements that would be of high priority to fulfill the project’s goals. One of the most urgent priorities is to determine the reference sequence of the Tunisian Genome. In addition, extensive situation analysis and revision of the education programs, community awareness, appropriate infrastructure including sequencing platforms and biobanking, as well as ethical and regulatory frameworks, have been undertaken towards building sufficient capacity to integrate personalized medicine into the Tunisian healthcare system. Results In the framework of this project, an ecosystem with all engaged stakeholders has been implemented including healthcare providers, clinicians, researchers, pharmacists, bioinformaticians, industry, policymakers, and advocacy groups. This initiative will also help to reinforce research and innovation capacities in the field of genomics and to strengthen discoverability in the health sector. Conclusions Genome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management and treatment outcomes, thereby reducing the social and economic burden on healthcare systems. Sharing this experience within the African scientific community is a chance to turn a major challenge into an opportunity for dissemination and outreach. Additional efforts are now being made to advance personalized medicine in patient care by educating consumers and providers, accelerating research and innovation, and supporting necessary changes in policy and regulation.
Cover
The cover image is based on the Original Article Beckwith‐Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature by Hela Sassi et al., https://doi.org/10.1002/mgg3.1796.
Cover
The cover image is based on the Original Article Beckwith‐Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature by Hela Sassi et al., https://doi.org/10.1002/mgg3.1796.