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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

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
Andrea di Bello
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 L. Pastore

Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito
Advantages of molecular diagnosis in monogenic diabetes
<p>Maturity Onset Diabetes of the Young (MODY), the most frequent form of monogenic diabetes, comprises a group of heterogeneous disorders, characterized by non-autoimmune diabetes due to mutations of at least 14 different genes.<br />We report a case of a 38-years-old patient with non-autoimmune diabetes, where molecular analysis evidenced a large deletion on chromosome 17q12 including several genes, among them HNF1&beta; associated to MODY5. The analysis allowed us to clarify the complex phenotype of the patient including, in addition to diabetes, intellectual disability, seizures, kidney cysts and facial dimorphisms. This case shows that diabetes when caused by large deletions, can be just one of the symptoms of a &ldquo;clinical syndrome&rdquo; that includes other features due to the deletion of neighboring genes and confirms the important role of the molecular test to obtain a correct diagnosis in a patient with a suspicion of monogenic diabetes.</p>
Biochimica Clinica ; 45(1) e1-e3
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