121366 20250116144525.0 doi 10.1039/D2JA00267A sideral 131669 ART-2023-131669 eng García-Poyo, M. Carmen Cu fractionation, isotopic analysis, and data processing via machine learning: new approaches for the diagnosis and follow up of Wilson's disease via ICP-MS 2023 Access copy available to the general public Unrestricted Information about Cu fractionation and Cu isotopic composition can be paramount when investigating Wilson's disease (WD). This information can provide a better understanding of the metabolism of Cu. Most importantly, it may provide an easy way to diagnose and to follow the evolution of WD patients. For such purposes, protocols for Cu determination and Cu isotopic analysis via inductively coupled plasma mass spectrometry were investigated in this work, both in bulk serum and in the exchangeable copper (CuEXC) fractions. The CuEXC protocol provided satisfactory recovery values. Also, no significant mass fractionation during the whole analytical procedure (CuEXC production and/or Cu isolation) was detected. Analyses were carried out in controls (healthy persons), newborns, patients with hepatic disorders, and WD patients. While the results for Cu isotopic analysis are relevant (e.g., δ65Cu values were lower for both WD patients under chelating treatment and patients with hepatic problems in comparison with those values obtained for WD patients under Zn treatments, controls, and newborns) to comprehend Cu metabolism and to follow up the disease, the parameter that can help to better discern between WD patients and the rest of the patients tested (non-WD) was found to be the REC (relative exchangeable Cu). In this study, all the WD patients showed a REC higher than 17%, while the rest showed lower values. However, since establishing a universal threshold is complicated, machine learning was investigated to produce a model that can differentiate between WD and non-WD samples with excellent results (100% accuracy, albeit for a limited sample set). Most importantly, unlike other ML approaches, our model can also provide an uncertainty metric to indicate the reliability of the prediction, overall opening new ways to diagnose WD. info:eu-repo/grantAgreement/ES/AEI-FEDER/PID2019-105660RB-C21 info:eu-repo/grantAgreement/ES/DGA-ESF/T58-20R info:eu-repo/grantAgreement/ES/DGA/E43-20R info:eu-repo/grantAgreement/ES/FEDER/Interreg POCTEFA 176-16-DBS info:eu-repo/grantAgreement/ES/MCIU-AEI-FEDER/PGC2018-093753-B-I00 info:eu-repo/semantics/openAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 3.1 2023 SPECTROSCOPY 9 / 44 = 0.205 2023 Q1 T1 CHEMISTRY, ANALYTICAL 37 / 106 = 0.349 2023 Q2 T2 0.722 2023 Spectroscopy 2023 Q2 Analytical Chemistry 2023 Q2 6.2 2023 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion Bérail, Sylvain Ronzani, Anne Laure Rello, Luis García-González, Elena Nakadi, Flávio V. Aramendía, Maite Universidad de Zaragoza (orcid)0000-0002-3916-9992 Resano, Javier Universidad de Zaragoza (orcid)0000-0002-7532-2720 Resano, Martín Universidad de Zaragoza (orcid)0000-0002-7450-8769 Pécheyran, Christophe 2009 750 Universidad de Zaragoza Dpto. Química Analítica Área Química Analítica 5007 035 Universidad de Zaragoza Dpto. Informát.Ingenie.Sistms. Área Arquit.Tecnología Comput. 1, 34 (2023), 229-242 J. anal. at. spectrom. Journal of Analytical Atomic Spectrometry 0267-9477 1899610 http://zaguan.unizar.es/record/121366/files/texto_completo.pdf Postprint 1609024 http://zaguan.unizar.es/record/121366/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:121366 articulos driver 2025-01-16-14:42:54 ARTICLE