Background: Heterozygous mutations were identified in 60%-90% of patients with Sotos syndrome. Recently, mutations of the and genes were identified in patients exhibiting only some Sotos syndrome features. Both and genes encode epigenetic 'writer' proteins that catalyse methylation of histone 3 lysine 36 (H3K36me).
View Article and Find Full Text PDFThe aim of this study was to define the current demographic, clinical and prognostic characteristics of acute post-streptococcal glomerulonephritis (APSGN) in French Polynesia and to compare these features with those of other populations. Fifty children, all of whom were <15 years old and had been admitted to the Territorial Hospital of Papeete for APSGN between January 2005 and December 2007, were retrospectively enrolled in the study. Diagnostic criteria were microscopic or macroscopic haematuria, decreased C3 fraction of the complement and evidence of recent streptococcal infection.
View Article and Find Full Text PDFWe report an estimation of the incidence of childhood cancer among natives of French Polynesia (FP) during the 1985-1995 period. Our data were acquired from the Cancer Registry of FP and through an extensive investigation of other potential sources of information. The mean population of children between 1985 and 1995 was estimated to be 63 401 inhabitants, 32 487 of whom were boys and 30 914 girls, born and residing in FP.
View Article and Find Full Text PDFAims: Revised guidelines for diagnosis of rheumatic fever indicate that rheumatic myocarditis may 'contribute' to the genesis of congestive heart failure. Our objective was to assess non-invasively the presence of non-clinical markers of myocardial involvement in acute rheumatic fever.
Methods: Echocardiography and assessment of cardiac troponin I (cTnI) blood levels were systematically performed in 95 consecutive patients with acute rheumatic fever, who were divided into three groups.
The authors attempted to assess the utility of interferon alpha2b treatment in a Polynesian girl with a relatively severe form of congenital dyserythropoietic anemia, type 1. The diagnosis was established using routine hematologic and biochemical tests, light and electron microscopy, and electrophoresis of red cell membrane proteins. Response to the treatment was monitored using the blood count and reticulocyte count.
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