Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2

SMA Related Publications

2 The Contribution of the PCR-Enzymatic Digestion in the Positive Diagnosis of Proximal Spinal Muscular Atrophy in the Moroccan Population

Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

Abstract:

The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: SMA, Exon7, PCR-digestion, SMN gene

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1 Towards an E-Learning Platform Multi-Agent Based On the E-Tutoring for Collaborative Work

Authors: Badr Hssina, Belaid Bouikhalene, Abdelkrim Merbouha

Abstract:

This article presents our prototype MASET (Multi Agents System for E-Tutoring Learners engaged in online collaborative work). MASET that we propose is a system which basically aims to help tutors in monitoring the collaborative work of students and their various interactions. The evaluation of such interactions by the tutor is based on the results provided by the automatic analysis of the interaction indicators. This system is predicated upon the middleware JADE (Java Agent Development Framework) and e-learning Moodle platform. The MASET environment is modeled by AUML which allows structuring the different interactions between agents for the fulfillment and performance of online collaborative work. This multi-agent system has been the subject of a practical experimentation based on the interactions data between Master Computer Engineering and System students.

Keywords: e-Learning, e-tutoring, Collaborative Work, Moodle, SMA, AUML, JADE, Web Agent

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