0000000000014795
AUTHOR
Chris Harris
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predictive of a more severe phenotype. Although children with Gaucher disease are at risk of irreversible disease complications, early intervention with an optimal dose of enzyme therapy can prevent the development of complications and ensure adequate, potentially normal, development through childhood and adolescence. Very few, if any, children diagnosed by signs and symptoms should go untreated. Evidence suggests that disease severity, disease progression and treatment response in different organs where glucocerebroside accumulates are often non-uniform in affected individuals. Therefore, serial mon…
TP53 mutations and hepatocellular carcinoma: insights into the etiology and pathogenesis of liver cancer.
Hepatocellular carcinoma (HCC) is one of the most common malignancies worldwide and the major risk factors include chronic infections with the hepatitis B (HBV) or C (HCV) virus, and exposure to dietary aflatoxin B(1) (AFB(1)) or alcohol consumption. Multiple genetic and epigenetic changes are involved in the molecular pathogenesis of HCC, for example, somatic mutations in the p53 tumor suppressor gene (TP53) and the activation of the WNT signal transduction pathway. AFB(1) frequently induces G:C to T:A transversions at the third base in codon 249 of TP53 and cooperates with HBV in causing p53 mutations in HCC. The detection of TP53 mutant DNA in plasma is a biomarker of both AFB(1) exposur…
Coupled silicon-oxygen isotope fractionation traces Archaean silicification
International audience; Silica alteration zones and cherts are a conspicuous feature of Archaean greenstone belts worldwide and provide evidence of extensive mobilisation of silica in the marine environment of the early Earth. In order to understand the process(es) of silicification we measured the silicon and oxygen isotope composition of sections of variably silicified basalts and overlying bedded cherts from the Theespruit, Hooggenoeg and Kromberg Formations of the Barberton Greenstone Belt, South Africa.The δ30Si and δ18O values of bulk rock increase with increasing amount of silicification from unsilicified basalts (-0.64‰ 30Si 18O 30Si and δ18O values as high as + 0.81‰ and + 15.6‰, r…