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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
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Tel. 0245498282


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

BC: Articoli scritti da A. Vitale

Approccio combinato tra il monitoraggio terapeutico del farmaco (TDM) e farmacogenetica per l’applicazione della medicina personalizzata nella pratica clinica
Combined approach of TDM and pharmacogenetics for application of personalized medicine in the clinical practice
<p>&nbsp;</p><p>&nbsp;<span style="font-size:9.0pt">Therapeutic Drug Monitoring (TDM) can be defined as the assessing of the adequacy of the drug plasma concentrations to a target concentration or to a concentration window at a specific time in a dosing interval. Following appropriate clinical interpretation and according to the drug pharmacokinetic/pharmacodynamic (PK/PD) properties, this evaluation can guide dosing optimization. However, finding the optimal dosing in order to guarantee a therapeutic exposure remains complicated. Sources of PK variability, including age, genetic heritage, and disease conditions, influence the chances of achieving adequate therapeutic outcomes. Another important aspect related to drug efficacy and safety is the Pharmacogenetics (PGx). Genetic variants or single nucleotide polymorphisms (SNPs) in genes encoding for metabolizing enzymes and membrane carriers, may affect drug response and/or toxicity. A combination of TDM and PGx could represent a personalized approach in clinical practice especially for off-label drugs used in polytherapy and characterized by a narrow therapeutic index. TDM combined to PGx represents an useful tool that could help clinicians in tailoring pharmacological therapies. We present here three case reports related to pediatric patients who have shown adverse drug reactions in response to therapies with phenytoin (PHT), voriconazole (VO) and isoniazid (INH).</span></p>
Biochimica Clinica ; 46(4) e31
Casi Clinici - Case Report
Application of array-Comparative Genomic Hybridization analysis in immune-virotherapy approach
<p>Introduction: oncololytic adenoviruses (OAds), viruses constructed to replicate in tumor cells, improve the outcome of cancer therapy in some cases, such as sarcomas. However, the molecular heterogeneity of tumors requires specific and personalized cancer treatments in order to set up more adequate and effective therapies.<br />Methods: by using the array Comparative Genomic Hybridization (array-CGH), a molecular approach method, we aimed to identify chromosomal aberrations or Copy Number Variants (CNVs) in three different tumor cell lines: HCT116, SW872 and A2058 selected for their Coxsackievirus and Adenovirus receptor (CAR) expression profile.<br />Results: the cells showed several duplications of genes involved in replicative Adenovirus cycle (binding, internalization, escape) in the core transport, and in the escape of the viral DNA from the capsid.<br />Conclusion: in this study, our aim was to identify chromosomal alterations in genes involved in the OAd replication cycle process. Array-CGH method could be useful to design a platform for a screening analysis in order to identify mutations that can contribute to oncolytic virotherapy approach generating a personalized strategy for tumor suppression.</p>
Biochimica Clinica ; 44(1) 061-067
Contributi Scientifici - Scientific Papers
Duplicazione sul cromosoma 22q11.21 in una paziente con difetto cardiaco congenito
Chromosome 22q11.21 duplication in a patient with congenital heart defect
C. Munno  |  F. Verdesca  |  A. Vitale  |  B. Lombardo  |  L. Pastore  | 
<p>The newly described 22q11.2&nbsp;microduplication syndrome is an association of a broad clinical spectrum and up to now more than 50 unrelated cases&nbsp;have been reported. The clinical presentation of patients is extremely variable and shares features with 22q11.2&nbsp;deletion syndromes (DG/VCFS), including heart defects, urogenital abnormalities, velopharyngeal insufficiency with&nbsp;or without cleft palate; it ranges from multiple defects to mild learning difficulties with some individuals being&nbsp;essentially normal. A high resolution array comparative genomic hybridization (a-CGH) 4x180K was performed on a&nbsp;patient with a congenital heart defect, a pulmonary valve stenosis, in order to identify potential mutations and to&nbsp;characterize the clinical phenotype at molecular level. Using a-CGH analysis, we identified a duplication in 22q11.21&nbsp;region of approximately 2.5 Mbp containing several genes including TBX1. The obtained results demonstrate the&nbsp;relevance of a-CGH as a screening method to detect genomic rearrangements responsible for congenital heart&nbsp;defects.</p>
Biochimica Clinica ; 39(4) e1-e3
Casi clinici - Case report