Publications by authors named "Marie-Celeste Cardoso"

Article Synopsis
  • The study explores leukodystrophies related to mutations in eIF2B genes, highlighting a wide spectrum of clinical manifestations ranging from severe fetal forms to milder adult cases.
  • A focus is placed on using biochemical markers, particularly the eIF2B GEF activity in patient cells, as a potential diagnostic tool, with previous reports of decreased activity in those with eIF2B mutations.
  • Results indicate that measuring eIF2B GEF activity is an effective diagnostic method, achieving 100% specificity and 89% sensitivity for detecting eIF2B-related disorders in a larger patient cohort.
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Purpose: Aseptic abscesses syndrome (AA) is an inflammatory disease in which non-infectious deep abscesses develop; these respond quickly to corticosteroids. AA is associated with Crohn disease (CD) in 57% of cases and with neutrophilic dermatosis (ND) in 20%. Pyoderma gangrenosum is usually a sporadic ND.

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Objectives: NOD2/CARD15 is a susceptibility gene for Crohn's disease (CD). It is also involved, via different mutations, in the Blau syndrome. The syndrome of aseptic abscesses (AA) is characterized by visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly with corticosteroids.

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The complete nucleotide sequence of an enterovirus 77 isolate is reported. The virus designated FR/CF496-99 (France/Clermont-Ferrand 496-1999) was recovered from the feces of a 4-year-old child hospitalized for Salmonella gastroenteritis. The virus was identified by a molecular typing assay based on the genomic sequence encoding the VP1 capsid protein.

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