129 research outputs found

    Hyperinsulinisme congénital par mutation du gÚne ABCC8

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      L’hyperinsulinisme congĂ©nital (CHI) est la cause la plus commune d’hypoglycĂ©mie hyper insulinĂ©mique persistante chez les nourrissons et les enfants. L’incidence de CHI peut varier de 1 sur 40 000-50 000 nouveau-nĂ©s dans la population gĂ©nĂ©rale Ă  1 sur 2500 nouveau-nĂ©s dans certaines communautĂ©s avec des taux Ă©levĂ©s de consanguinitĂ©. On distingue les CHI syndromiques des CHI isolĂ©s. A ce jour 10 gĂšnes ont Ă©tĂ© dĂ©crits responsables de CHI d’apparence isolĂ©e en pĂ©riode nĂ©onatale (ABCC8, KCNJ11, GCK, SLC16A1, UCP2, HNF1A, HNF4A, HADH, GLUD1 et INSR), ABCC8 Ă©tant de loin le plus frĂ©quemment incriminĂ©. Parmi les CHI isolĂ©s, on distingue, sur le plan clinique, les patients en fonction de leur rĂ©ponse glycĂ©mique au traitement oral par diazoxide. L’analyse gĂ©nĂ©tique rapide, l’imagerie par 18F-DOPA-PET/CT, des nouvelles thĂ©rapies mĂ©dicales potentielles et le dĂ©veloppement des techniques chirurgicales ont amĂ©liorĂ© la prise en charge et l’issue de la maladie. Des recherches supplĂ©mentaires sont nĂ©cessaires pour identifier la base molĂ©culaire sous-jacente de CHI, particuliĂšrement chez les patients sensibles au diazoxide. Nous rapportons une observation originale sur deux ans de CHI par mutation ABCC8. Nous insisterons sur les difficultĂ©s diagnostiques, thĂ©rapeutiques et Ă©volutive

    Genetic differentiation and gene flow between the Tunisian ovine breeds Barbarine and Western thin tail using random amplified polymorphic DNA-polymerase chain reaction (RAPD-PCR) analysis

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    Sheep is an important livestock species of Tunisia. They contribute greatly to the food safety of the country and in the livelihood of a large number of small and marginal farmers and landless labourers engaged in sheep rearing. In this study, random amplified polymorphic DNA-polymerase chain reaction (RAPD-PCR) analysis was used to assess the genetic difference and gene flow among two Tunisian sheep breeds (the Barbarine and the Western thin tail). A total of 62 bands were detected with an average of 7.75 bands per primer. The unweighted pair-group method with arithmetic average (UPGMA) and principal component analysis (PCA) showed a clear differentiation between the two studied breeds. Genetic differentiation coefficient (Gst) over all loci was 0.1922, the fixation index [Fst by Analysis of molecular variance (AMOVA)] was 0.308 (P<0.001), and the gene flow value (Nm) was 1.3102. It is clear from this study that Barbarine and Western thin tail breeds are completely distinct and that they show high and significant genetic differentiation. However, the level of gene migration between them is quite high and may lead eventually to the loss of breed’s purity.Key words: Sheep, genetic differentiation, gene flow, RAPD-PCR

    Major and Emerging Fungal Diseases of Citrus in the Mediterranean Region

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    This chapter deals with major endemic and emerging fungal diseases of citrus as well as with exotic fungal pathogens potentially harmful for citrus industry in the Mediterranean region, with particular emphasis on diseases reported in Italy and Maghreb countries. The aim is to provide an update of both the taxonomy of the causal agents and their ecology based on a molecular approach, as a preliminary step towards developing or upgrading integrated and sustainable disease management strategies. Potential or actual problems related to the intensification of new plantings, introduction of new citrus cultivars and substitution of sour orange with other rootstocks, globalization of commerce and climate changes are discussed. Fungal pathogens causing vascular, foliar, fruit, trunk and root diseases in commercial citrus orchards are reported, including Plenodomus tracheiphilus, Colletotrichum spp., Alternaria spp., Mycosphaerellaceae, Botryosphaeriaceae, Guignardia citricarpa and lignicolous basidiomycetes. Diseases caused by Phytophthora spp. (oomycetes) are also included as these pathogens have many biological, ecological and epidemiological features in common with the true fungi (eumycetes)
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