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Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da C. Di Resta

La diagnostica molecolare in epoca prenatale: evoluzione tecnologica ed implicazioni etiche in medicina della riproduzione
Molecular diagnostics in the prenatal age: technological evolution and ethical implications in reproductive medicine
<p>Congenital anomalies have a birth rate of 3-5% in the general population. The ability to identify genetic alterations in the prenatal age is noticeably increased with the advancement of molecular diagnostic techniques, which are included today in clinical practice. Nowadays, we have several non-invasive and invasive testing options and it is relevant to consider that some of them have a screening value while others have a proper diagnostic role. Based on that, when we are approaching prenatal molecular tests, it is crucial to weigh the multiple ethical implications, related to specific single testing or shared by more of them. Indeed, the interpretation of the testing results may be straightforward especially when the test aims to assess a known familial alteration, while it is more challenging when a genetic variation of unknown significance has to be reported. Thus, prenatal genetic counselling, pre and post-test, is essential to drive the couples to balance the desire to acquire as much information as possible and the real clinical utility of prenatal genetic investigations.&nbsp;</p>
Biochimica Clinica ; 46(3) S089-S094
Rassegne - Reviews
 
Tecniche di apprendimento automatico basato sui risultati di esami di medicina di laboratorio nella diagnosi e prognosi per i pazienti COVID-19: una revisione sistematica
Machine Learning based on laboratory medicine test results in diagnosis and prognosis for COVID-19 patients: a systematic review
<p>The rapid detection of SARS-CoV-2 infections is essential for both diagnostic and prognostic reasons: however, the current gold standard for COVID-19 diagnosis, that is the rRT-PCR test, is affected by long turnaround time, potential shortage of reagents, high false-negative rates and high costs. Thus, Machine Learning (ML) based methods have recently attracted increasing interest, especially when applied to digital imaging (x-rays and CT scans).<br />In this article, we review the literature on ML-based diagnostic and prognostic methods grounding on hematochemical parameters. In doing so, we address the gap in the existing literature, which has so far neglected the application of ML to laboratory medicine. We surveyed 20 research articles, extracted from the Scopus and PubMed indexes. These studies were characterized by a large heterogeneity, in terms of considered laboratory and clinical parameters, sample size, reference population, employed ML methods and validation procedures. Most studies were found to be affected by reporting and replicability issues: among the surveyed studies, only three reported complete information regarding the analytic methods (units of measure, analyzing equipment), while nine studies reported no information at all. Furthermore, only six studies reported results on independent external validation. In light of these results, we discuss the importance of a tighter collaboration between data scientists and medicine laboratory professionals, so as to correctly characterize the relevant population, select the most appropriate statistical and analytical methods, ensure reproducibility, enable the correct interpretation of the results, and gain actual usefulness by applying ML methods in clinical practice.</p>
Biochimica Clinica ; 45(4) 348-364
Rassegne - Reviews