Rania Ghorbel

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BACKGROUND/AIMS Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia, and alacrima. This syndrome is caused by mutations in the AAAS gene. A major splice site mutation c.1331+1G>A was found previously in North African families affected by Allgrove syndrome. In this study, we analyzed in vivo(More)
INTRODUCTION Pityriasis versicolor is a superficial mycosis uncommonly reported in children. It occurs frequently in warm humid climates. Clinical diagnosis can be confirmed by mycology examination of a biopsy sample or a patch-test. The aim of our work was to assess the frequency of pityriasis versicolor in children in our region and ascertain the(More)
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively girls. Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. RTT is currently considered(More)
The present study was undertaken to evaluate the chemical, microbiological, and sensory effects of different sodium lactate (SL) and lactic acid (LA) combinations on marinated chicken thigh. The latter were treated with SL and LA combined at various concentrations, namely 0.3 and 0.03; 0.5 and 0.05; 0.6 and 0.06; 0.75 and 0.075; and 0.9 and 0.09%,(More)
Parasitical and fungal ophthalmic infections are polymorphic and variably severe. They are rarely reported in publications. The aim of our study has been to specify the parasitic and fungal agents isolated from the ocular samples in our district (Sfax-Tunisia). We surveyed retrospectively the different ocular parasitosis and mycosis diagnosed in our(More)
Mitochondria play an essential role to supply the cell with metabolic energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As a consequence, they are also the primary source of cellular reactive oxygen species (ROS) which can cause oxidative damage of individual respiratory chain complexes. Indeed, affected OXPHOS(More)
Rett syndrome is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. The aim of this study was to search for mutations of MECP2 gene in Tunisian Rett patients and to evaluate the impact of the found variants on structural and functional features of MeCP2. The result of(More)
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett patients present an apparently normal psychomotor development during the first 6 to 18 months of life. Thereafter, they show a short period of developmental stagnation followed by a(More)
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