Intérêt du Multilocus Séquence Typing (MLST) dans l'étude de deux vagues épidémiologiques d'infection invasive à méningocoque en région Limousin

LIMOGES-BU Médecine pharmacie (870852108) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Emergence of 2 Neisseria meningitidis serogroup C clones in a French county.

International audienceBetween 2003 and 2007, we recovered 21 serogroup C Neisseria meningitidis isolates in the Haute-Vienne county of France. Multilocus sequence typing showed that 20 isolates belonged to the ST-11 clonal complex (8 to clone ET-15 and 12 to clone ET-37) and 1 to the ST-8 clonal complex

Ecchymoses associées à la prise de montélukast : à propos d’un cas

Une jeune fille âgée de 13 ans traitée par montélukast, fluticasone/salmétérol, desloratadine, fluticasone furoate et salbutamol a présenté de nombreuses ecchymoses spontanées après que le traitement par montélukast fut substitué par la forme générique. L’arrêt du montélukast permettra une amélioration notable des ecchymoses

Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

International audienceCONTEXT: Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. Familial tumoral calcinosis (TC), characterized by ectopic calcifications and hyperphosphatemia, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes. OBJECTIVE: Our objective was to identify mutations in FGF23 or GALNT3 and determine serum FGF23 levels in an HHS patient. DESIGN: Mutation detection in FGF23 and GALNT3 was performed by DNA sequencing, and serum FGF23 concentrations were measured by ELISA. PATIENTS OR OTHER PARTICIPANTS: A 5-year-old French boy with HHS and his family members participated. RESULTS: The patient presented with painful cortical lesions in his leg. Radiographs of the affected bone showed diaphyseal hyperostosis. The lesional tissue comprised trabeculae of immature, woven bone surrounded by fibrous tissue. Biochemistry revealed elevated phosphate, tubular maximum rate for phosphate reabsorption per deciliter of glomerular filtrate, and 1,25-dihydroxyvitamin D levels. The patient was a compound heterozygote for two novel GALNT3 mutations. His parents and brother were heterozygous for one of the mutations and had no biochemical abnormalities. Intact FGF23 level in the patient was low normal, whereas C-terminal FGF23 was elevated, a pattern similar to TC. CONCLUSION: The presence of GALNT3 mutations and elevated C-terminal, but low intact serum FGF23, levels in HHS resemble those seen in TC, suggesting that HHS and TC are different manifestations of the same disorder. The absence of biochemical abnormalities in the heterozygous individuals suggests that one normal allele is sufficient for secretion of intact FGF23