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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 D. Palma

A wide next-generation-sequencing panel improves the molecular diagnosis of dyslipidemias
<p>Introduction: dyslipidemias are common clinical conditions associated to cardiovascular diseases. Among these, Familial Hypercholesterolemia (FH) and severe Hypertriglyceridemia (sHTG) are the most frequent ones. The aim of this study is to evaluate the possible use of a wide next-generation-sequencing (NGS) panel of 28 genes involved in lipid metabolism, to improve the molecular diagnosis of dyslipidemias.<br />Methods: a reanalysis of 25 patients (21 FH and 4 sHTG) previously analyzed for a few causative genes has been carried on. Patients bearing different types of variants [single nucleotide variants (SNVs) and copy number variations (CNVs)] in different genes, previously analyzed with Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) have been selected. DNA libraries have been prepared using Agilent SureSelect target enrichment protocol; the sequencing has been performed using Illumina MiSeq (V2 150x2 Micro). The results of the sequencing have been evaluated by Agilent SureCall and Agilent Alissa Align&amp;Call and Intrepret pipelines.<br />Results: all previously identified SNVs and CNVs have been confirmed by NGS. Additional rare variants, not always associated with dyslipidemias, were found in 23/25 patients. An additional pathogenic variant in the APOBgene has been identified in a sHTG patient carrying only 1 pathogenic variant in the APOA5gene (causative of sHTG).<br />Conclusions: the NGS-method confirmed all the results obtained with direct sequencing and MLPA methodologies. Additional rare variants were detected, even if most of them turned out to be variant of uncertain significance (VUS). In conclusion, this NGS approach may enhance the molecular diagnosis of different types of dyslipidemias, thereby leading to a better understanding and detection of complex phenotypes.</p>
Biochimica Clinica ; 44(3) 255-262
Contributi Scientifici - Scientific Papers
Galectin-3 and Lp(a) plasma concentrations and advanced carotid atherosclerotic plaques: correlation with plaque presence and features
<p>Introduction: atherosclerosis is one of the leading causes of death and morbidity worldwide. It consists in thedevelopment of plaques in the intima media layers of arteries due to lipid accumulation and oxidation, causingmassive inflammation. We aim to better understand the role of Galectin-3 (Gal-3) and Lipoprotein(a) [Lp(a)] aspossible peripheral markers of plaque presence.<br />Methods: Gal-3 and Lp(a) were measured in plasma samples from 99 patients undergoing carotid endarterectomyand 78 healthy controls, by immunometric assays. Plaques were classified histologically, according to the AmericanHeart Association (AHA) guidelines as type Va (fibroatheroma), Vb (mainly calcific) and Vl (complicated lesion).<br />Results: Gal-3 and Lp(a) plasma levels are higher in patients compared to controls [19.8 ng/mL (SD 5.8) vs 14.0ng/mL (3.6)], p&lt;0.0001 and 8.4 mg/dL (IQR 4.0-25.1) vs 4.7 mg/dL (2.4-12.7), p=0.0003, respectively). Analysis ofROC curves confirmed the discriminating power of these markers obtaining an area under the curve of 0.806(p&lt;0.0001) for Gal-3 and 0.657 (p=0.0001) for Lp(a). At multivariate logistic regression, Gal-3 and Lp(a) plasma levelswere associated with plaque presence independently of each other as well as of age, sex, LDL-C levels and previousmyocardial infarction with an odds ratio of 1.22 (95%CI 1.08-1.38, p=0.002) and 1.05 (1.00-1.09, p=0.048)respectively. No differences of Gal-3 and Lp(a) plasma levels were observed among the plaque types.<br />Conclusion: our data showed that Gal-3 and Lp(a) are reliable markers of advanced atherosclerotic plaques. Theabsence of differences among the different lesion types suggests that the increase of Gal-3 and Lp(a) is independentof the specific plaque features.</p>
Biochimica Clinica ; 43(3) 289-295
Contributi Scientifici - Scientific Papers