Emna Turki

A fuzzy-based ontology for Alzheimer's disease decision support

The fight against Alzheimers disease (AD) has become a major issue. We aim to contribute to this fight by seeking to provide adequate software to assist decision makers in the field of AD to choose the optimal decision for each situation. Moreover, it is now recognized that fuzzy ontologies are useful tools for the representation of crisp and fuzzy knowledge and reasoning on it. Thus, we propose in this paper a fuzzy ontology called “AlzFuzzyOnto”, related to the AD concepts. This ontology enables semantic representation of medical data for diagnosis and support of AD, while taking into account the uncertainties and inaccuracies associated with this disease. To this end, we used the Mind ontology, as initial core ontology, in the building process of the ontology “AlzFuzzyOnto”, which we have standardized to facilitate the integration of rule bases.

Nouvelle mutation du gène ATP7B responsable d’une maladie de Wilson avec atteinte neurologique sévère

Fig. 1 – Arbre généalogique. Le symbole d’individu noir correspond au sujet atteint (flèche : cas index ; carré hachuré : frère probablement atteint ; * : sujets prélevés). Family pedigree (black symbol: affected member; arrow: index case; hatched square: probable affected brother; *: individuals for whom DNA was available). Nouvelle mutation du gène ATP7B responsable d’une maladie de Wilson avec atteinte neurologique sévère

Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

Le syndrome de Fahr : à propos de dix cas

D03 Les trois singes de la sagesse : «ne rien voir, ne rien entendre, ne rien dire » A. Benoilida,∗, V. Quenardellea, J. Aupyb, C. Dalvit a, B. Lannesc, A. Echaniz-Lagunaa a Service de neurologie, hopitaux universitaires de Strasbourg, avenue Moliere, 67098 Strasbourg, France b Service de neurologie, hopital Pellegrin, CHU de Bordeaux, 33000 Bordeaux, France c Service de pathologie, hopitaux universitaires de Strasbourg, 67098 Strasbourg, France ∗Auteur correspondant. Adresse e-mail : aurelien.benoilid@chru-strasbourg.fr (A. Benoilid)