L'exploration du sacré de transgression à travers la danse liturgique chrétienne

Ce mémoire-création cherche à briser les limites imposées par l'Église melkite orientale catholique en créant une danse, Al Kalima, qui se veut liturgique et transgressive en même temps. Al Kalima explore le sacré de transgression à travers le corps et le mouvement. Elle essaie d'introduire un changement au sein de l'Église orientale. Elle se veut une révolte contre l'immobilité des corps lors des célébrations. Cette danse se veut rebelle sans toutefois être agressive et violente. Elle est une prière dansante et une communication corporelle avec Dieu. Al Kalima reproduit le cycle chrétien en dansant la vie du Christ. Elle se rappelle de Noël, de la Passion, de la Résurrection, de l'Ascension et de la Pentecôte. La chorégraphie de Al Kalima s'est influencée de la gestuelle des prêtres et des célébrants lors de la messe ainsi que des icônes représentant le Christ, la Vierge et les saints. Pour arriver à son but et comprendre le concept du sacré ainsi que le concept du sacré de transgression, ce mémoire-création révise les écrits de plusieurs auteurs qui se sont attardés sur ces sujets. Comme le sacré est lié profondément à la religion et au mysticisme, ces deux thèmes ont aussi été traités. De même, ce mémoire-création se base sur une étude de la danse sacrée et de la danse liturgique. Ces formes de danse ont aidé l'interprétation de Al Kalima. Elles jouent un rôle majeur en liant le sacré de transgression à la danse. Finalement, Al Kalima a permis l'exploration du sacré de transgression à travers le corps. La compréhension théorique du sacré de transgression ainsi que la revue de la danse sacrée ont été nécessaires pour le fusionnement et l'équilibre de ce mémoire-création.\ud ______________________________________________________________________________ \ud MOTS-CLÉS DE L’AUTEUR : Danse et religion, danse et Christianisme, la danse et le sacré, le sacré de transgression et la danse, danse liturgique, danse sacrée

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

International audienceBackground: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. Results: We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. Conclusion: This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.

International audienceWe report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The two siblings died at 5 and 8 months, respectively. Molecular analysis indicated that SOX9, ARX, and DHCR7 genes were normal. Comparative genomic hybridization (CGH)-array analysis performed on the younger boy indicated two notable deletions, one on paternally inherited chromosome 4, and one on maternally inherited chromosome 5. The same deletions were found in a normal sister. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed. © 2011 Wiley-Liss, Inc

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene. Results were positive in 7 cases and revealed de novo variants at the heterozygous state in different exons of the gene for all except one, where the variant was intronic. Four variants were novel. Confirmation of Dravet syndrome is important for a better follow-up and treatment, preventing the occurrence of status epilepticus and severe neurological deterioration

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

International audienc