Title: Approccio Metabolomico alla diagnostica clinica delle colestasi Metabolomic approach to the clinical diagnosis of cholestasis
Authors: RENIERO FabianoGIORDANO GiuseppeGUCCIARDI AntonellaDI GANGI Iole MariaPIRILLO PaolaCOSTA IreneDONAZZOLO ElenaNATURALE MauroCARRARO SilviaBARALDI Eugenio
Citation: Ligand Assey vol. 17 no. 1 p. 25-32
Publisher: European Ligand Assay Society
Publication Year: 2012
JRC N°: JRC72219
URI: http://publications.jrc.ec.europa.eu/repository/handle/JRC72219
Type: Articles in periodicals and books
Abstract: Obiettivo del lavoro è stato quello di applicare l’approccio metabonomico, utilizzando piattaforme analitiche basate sulla risonanza magnetica nucleare (NMR) e spettrometria di massa (MS), su fluidi biologici come urina nello studio delle epatopatie colestatiche in età pediatrica. L’indagine è stata applicata su neonati affetti da patologie epatiche delle vie biliari quali atresia, colestasi e il deficit di 3β-idrossi-5-steroido deidrogenasi (HSD3B7). L’approccio metabonomico si è basato sull’analisi dell’urina con tecniche spettroscopiche NMR e MS; e i dati spettrali ottenuti sono stati elaborati tramite analisi statistica multivariata con tecniche non controllate (unsupervised), e quelle controllate (supervised) La buona discriminazione tra i 4 gruppi considerati il deficit di 3β-idrossi-5-steroido deidrogenasi (HSD3B7), atresia, colestasi e controlli sani) ottenuta con i dati congiunti NMR e MS dimostra e la potenzialità dell’approccio metabonomico nella diagnosi differenziale delle sindromi colestatiche. Aim of this work was to apply the metabonomic approach, using analytical platforms based on nuclear magnetic resonance (NMR) and mass spectrometry (MS) of biological fluids such as urine in the study of cholestatic liver disease in children. The investigation was applied to infants with liver disease such as atresia, cholestasis and 3β-hydroxy-5-steroid dehydrogenase deficiency (HSD3B7). The metabonomic approach was based on the analysis of urine with NMR and MS spectroscopic techniques, and spectral data obtained were processed by multivariate statistical analysis using non-controlled (unsupervised), and controlled (supervised) methods The good discrimination between the 4 groups of patients afected by 3β-hydroxy-5-steroid dehydrogenase deficiency  (HSD3B7), atresia, cholestasis and healthy controls) induced by combined NMR and MS data and demonstrates the potential of the metabonomic profiling approach to the differential diagnoses of cholestatic syndrome.
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