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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

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


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

BC: Articoli scritti da G. Mengozzi

Screening prenatale delle principali anomalie cromosomiche nell’ambito del percorso assistenziale del Piemonte
Prenatal screening of the main chromosomal abnormalities: the experience of the Piemonte region (Italy)
<p>Introduction: the purpose of prenatal diagnosis is the identification of the 3% of fetuses with chromosomal abnormalities. Prenatal testing relies on ultrasound measurements and biochemical markers, but in recent years it has been moving towards Non-Invasive Prenatal Testing (NIPT) to determine the fetal risk for genetic disorders. The aim of this study is to provide an assessment of the implementation of cell-free DNA (cfDNA) screening for the three main aneuploidies [Down (T21), Edwards (T18), and Patau (T13) syndromes] using a Contingent approach in the Piedmont region in Italy, where currently Combined, Wald and Integrated tests are offered by the National Health System.<br />Methods: a prospective NIPT study was carried out among women referred for invasive prenatal diagnosis in Citt&agrave; della Salute e della Scienza in Turin, Italy. The plasma fraction was extracted, stored at &minus;20&deg;C and cfDNA measured using an automated system based on rolling circle replication.<br />Results: a total of 805 women were recruited including 48 T21, 25 T18, and 3 T13 affected pregnancies. The detection rates (DRs) were 100% (93%-100%), 96% (80%-100%), 67% (9.4%-99%), and the false-positive rates (FPRs) were 0.14% (0.00%-0.79%), 0.78% (0.29%-1.7%), and 0.26% (0.03%-0.95%) for T21, T18, and T13 syndromes, respectevely.<br />Conclusion: the screening performance of cfDNA is substantially higher than the Combined or Integrated tests. Considering the offering a Contingent cfDNA screening policy, it is relevant to assess the test performance in samples in the &ldquo;grey zone&rdquo; conventional screening results (i.e., risk 1 in 100 - 2 500 for T21 syndrome ) compared with the previous one&nbsp; (risk higher than 1 in 100 or lower than 1 in 2 500).</p>
Biochimica Clinica ; 46(3) S082-087
Contributi Scientifici - Scientific Paper
Il calcolo del kappa index come valida alternativa alla determinazione delle bande oligoclonali nell’iter diagnostico dei pazienti con sclerosi multipla
The Kappa Index as a valid alternative to oligoclonal bands determination in the diagnostic process of patients with multiple sclerosis
<p>Introduction: the role of the kappa free light chains (KFLC) index in the diagnostic workup of multiple sclerosis (MS) is still a matter of debate.<br />Methods: 667 subjects from three reference laboratories have been enrolled, including 181 MS patients and 486 controls with other immune-mediated or non-inflammatory disorders. Serum and cerebrospinal fluid KFLC index, serum and cerebrospinal fluid albumin and IgG concentrations were measured on BNII nephelometer (Siemens Healthineers. Marburg. Germany), while oligoclonal bands (OCB) were detected by isoelettrofocusing on Hydrasys system (Sebia. Bagno a Ripoli. Italia).<br />Results: KFLC index was higher in MS than in controls [median (interquartile range - IQR) 76.56 (35.05) versus 17.99 (2,34), p &lt;0.001]. A cut-off of 5.0 resulted in 93.9% (min-max 82.6-96.0) sensitivity and 77.4% (70.3-80.3) specificity, with positive and negative predictive values of 60.7% (41.4-69.3) and 97.2% (93.6-98.0), respectively. OCB assessment yielded 94.6% (87.9-96.5) sensitivity and 91.4% (86.6-94.8) specificity, with positive and negative predictive values of 87.5% (78.6-92.0) and 96.4 (93.6-98.0), respectively. The three laboratories showed similar results, making it possible to adopt common thresholds. The relatively low specificity of KFLC may be related to the characteristics of the control population, in particular to the percentage of subjects with inflammatory conditions associated with intratechal immunoreactivity.<br />Conclusions: an algorithm for the diagnostic management of MS could be suggested based on the KFLC index as screening test, followed by the detection of OCB, in case of a positive result. Future studies are needed to evaluate possible relationships between KFLC index, as a quantitative variable, and other clinical features of MS, such as severity of the disease and prognostic scores.</p>
Biochimica Clinica ; 45(1) 044-051
Contributi Scientifici - Scientific Papers
Validazione del dosaggio delle metanefrine plasmatiche mediante cromatografia liquida associata alla spettrometria di massa tandem
Validation of the measurement of plasma metanephrines by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
<p>The prevalence of arterial hypertension is very high all over the world. ~0.1% of subjects with secondary hypertension has a pheochromocytoma, a tumor producing catecholamines. The quantification of free plasma o-methylated metabolites, metanephrine (p-MN) and normetanephrine (p-NMN), is considered the most accurate test for both the diagnosis and monitoring of pheochromocytoma. The aim of this work was to validate of an assay for measuring plasma metanephrines by LC-MS/MS. Calibration curves showed good linearity (R<sup>2</sup> &gt;0.99). Intra-assay repeatibility, assessed on two pools, normal and pathological, resulted in a CV of 5.1% and 3.9% for p-MN and 8.2% and 10.5% for p-NMN, respectively. Inter-assay CVs were 15.9% and 11.9% for p-MN and 16.6% and 16.1% for p-NMN, respectively. The limit of detection was 8 pM for p-MN and 66 pM for p-MNM, while the limit of quantification was 26 pM for p-MN and 83 pM for p-NMN. 638 plasma samples were analyzed, providing a representative sample to assess potential clinical impact of the validated method.</p>
Biochimica Clinica ; 41(1) 050-059
Contributi scientifici - Scientific papers