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
☩Howard Morris Australia
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
☩Jill Tate Australia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada

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Giuseppe Agosta

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BC: Articoli scritti da V. D'Argenio

Glossario di biologia molecolare e biologia molecolare clinica. Parte II: metodologie di biologia molecolare
Glossary of molecular biology and clinical molecular biology. Part II: laboratory methodologies
<p>This document represents the second part of a glossary on molecular biology. In particular, the main laboratory techniques for molecular biology are be described. Indeed, recent technological advances made available a number of technologies featured by higher accuracy and sensitivity that are becoming commonly used in routine molecular diagnostics. Aiming to support less experienced readers, the terms related to the main molecular biology techniques are listed herein. For each term the corresponding English version is reported (see also the complete list, both in Italian and in English alphabetical order, reported in the Appendix). In addition, for some of the terms, a link to articles published in Biochimica Clinica, where they have been used, is reported.</p>
Biochimica Clinica ; 43(4) 435-448
Documenti - Documents
La Medicina di Laboratorio: gli specialisti di domani
Laboratory Medicine: specialists of tomorrow
<p>Laboratory Medicine rides the wave of technological progress, the metamorphosis of information systems and data management. The Young Specialist is not a mere observer, but rather takes a leading role in this change, taking advantage of the opportunities offered by &ldquo;omics&rdquo; technologies, capturing new ideas and innovative stimuli that lead to a new concept of work and research oriented to health and prevention. Thanks to the support of international web platforms, training and exchange programs supported by the International Scientific Societies and Federations that favor professional and scientific growth, Young Scientists work in a global context. In this scenario, the SIBioC Young Scientists Study Group, with the auspices of SIBioC, EFLM and IFCC, organized a meeting on &quot;Laboratory Medicine: Specialists of tomorrow&quot; with the aim of discussing and highlighting some of the most important challenges, such as technological progress, training and internationalization of young people. Finally, the future of laboratory medicine looks at a multidisciplinary approach that leads to integrated diagnosis, identification of the frail patient, the use of the Point of Care Testing as an indispensable tool in crisis areas, making the dialogue between physician and laboratory specialist a fundamental step for the diagnosis and treatment with the final aim of a better outcome for the patient.</p>
Biochimica Clinica ; 43(4) 424-434
Documenti - Documents
Glossario di biologia molecolare e biologia molecolare clinica. Parte I: termini generali
Glossary of molecular biology and clinical molecular biology. Part I: general terms.
<p>This glossary has beenconceived to help readers, who are less experienced with molecular biology, to approach this field of laboratorymedicine, which is gaining increasing importance in the analytical and diagnostic processes. The glossary isorganized into two separate sections: general terms of molecular biology and clinical molecular biology (molecularbiology techniques, and molecular diagnostic testing). For some of the terms, a link to articles published in BiochimicaClinica, where these terms are employed is included. For each term the corresponding English version is reported;in addition, all the entries of the glossary are listed in the Appendix both in Italian and in English alphabetical order.</p>
Biochimica Clinica ; 43(1) 090-105
Documenti - Documents
La biologia molecolare clinica nella valutazione e prevenzione del rischio cardiologico nell’attività sportiva e nell’attività motoria intensa
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity
<p>We review the clinical molecular biology approach for the prevention of cardiological diseases, essentially via risk assessment at personal level by DNA analysis. Intense physical activity, particularly during athletic performances, can result in syncope or even cardiac arrest, often followed by sudden<br />cardiac death. An approach to the prevention of such tragic events is predictive medicine (presence of pathogenic mutations in cardiac genes), besides the conventional tools used in cardiology (mainly electro and echocardiogram under stress conditions). Accordingly, we list the major cardiac diseases and their related genes and derivative proteins which are instrumental for normal heart function. Alterations can occur in ion channel genes, in genes<br />encoding desmosomial and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton at the nuclear envelope, and in genes encoding mitochondrial proteins. Thus, we constructed two sets of gene panels: one set to discriminate among confounding heart diseases, and another set based on a cost-benefit criterion according to the most or less frequent genes bearing pathogenic variants that entail a higher or lower predisposing risk. This<br />approach should be used to monitor pre-participation athletes and also amateurs who belong to families in which at least 1-2 subjects are affected by cardiac alterations. The risk should be identified with the aim to monitor subjects in order to prevent cardiac arrest and even sudden cardiac death.</p>
Biochimica Clinica ; 43(1) 024-043
Rassegne - Review
Il ruolo di tecniche di sequenziamento genico ad elevata produttività per la diagnosi molecolare dei tumori ereditari della mammella
Role of next generation sequencing technologies for the molecular diagnosis of hereditary breast cancers.
<p>Breast cancer (BC) is still the most common tumor in women worldwide. Up to 20-25% of all BCs are of hereditaryfamilial nature and can be related to germline predisposing-mutations of which the most relevant are present in the high penetrance-genes BRCA1 and BRCA2. These mutations escalate the lifetime risk of BCs and also of other cancers. Thus, their early identification in tumor-prone family members is important to improve the clinical management of patients and their families. In addition, despite their high penetrance, only a small fraction of patients carry BRCA1 or BRCA2 mutations. This suggests that familial BCs may be related to germline mutations in other high-, moderate- and low-penetrance cancer genes. Consequently, the request for laboratory methods able to detect cancer-related pathogenic mutations in a short time and with high accuracy and sensitivity is raised. Recent technological advances in next generation sequencing (NGS) methods development are showing their potential also in this field. Indeed, NGS-based approaches are now currently used for BRCA genes analysis superseding conventional approaches. Moreover, the possibility to simultaneously sequence a panel of target genes is effective to further investigate patients with a personal and/or family history suggestive for an inherited BCs but with no mutations after BRCA molecular test. Implementation of this second-level molecular screening in routine diagnostic workflow will increase the diagnostic sensitivity and improve the management of both patients and their families. In addition, these methodologies could lead to the identification of other BC-related genes, thereby increasing knowledge about hereditary BCs molecular bases.</p>
Biochimica Clinica ; 42(4) 285-293
Rassegne - Reviews
Meccanismi epigenetici nella patogenesi dell’allergia al latte vaccino
Epigenetics and cow’s milk allergy: implication for pathogenesis
<p>Cows&rsquo; milk allergy (CMA) is one of the most&nbsp;frequent allergies in child, often occurring quite soon after birth. Recent years have been featured by an increasing&nbsp;prevalence of CMA that can often be the first appearance of the so-called &ldquo;atopic march&rdquo;. Typically, CMA is featured&nbsp;by immunoglobulin E (IgE)-mediated reactions; however, the pathogenetic basis of IgE-mediated CMA is not yet&nbsp;completely understood. Recent evidences suggest that epigenetic factors, such as DNA methylation and regulatory&nbsp;non-coding RNAs could play a role in allergic diseases, including CMA. Here, we review the state of the art regarding&nbsp;the involvement of some epigenetic modifications in allergic diseases, and especially in CMA. We describe that&nbsp;epigenetic derived molecules, in addition to be pathogenetic factors contributing to typical CMA allergic phenomena,&nbsp;could also serve to produce molecules which may act as novel, specific and easily accessible biomarkers for CMA&nbsp;diagnosis and monitoring.</p>
Biochimica Clinica ; 42(2) 103-111
Rassegne - Reviews
Armonizzazione in Medicina di Laboratorio
Harmonization in Laboratory Medicine
Biochimica Clinica ; 39(6) 546-547
Editoriale - Editorial
Armonizzazione in Medicina di Laboratorio
Harmonization in Laboratory Medicine
Biochimica Clinica ; 39(6) 546-547
Editoriale - Editorial
La valutazione della frammentazione del DNA spermatico nei soggetti infertili
The laboratory assessment of sperm DNA fragmentation in infertile patients
<p>Over 15% of couples worldwide suffer from infertility and in 50% of cases a male factor is found. According to the World Health Organization, sperm analysis is the most appropriate test to assess male infertility. Since quite often, the conventional semen parameters are related to sperm DNA damage, the integration of this evaluation with sperm DNA fragmentation (SDF) could independently predict the sperm reproductive potential. Unfortunately, this analysis has not entered into routine clinical practice. The aim of this review is to discuss the importance of the SDF analysis and its clinical implication and to evaluate the extrinsic and intrinsic factors that affect the DNA fragmentation. In addition, principles and protocols of different methods used to evaluate and quantify the SDF are reviewed; advantages and disadvantages of different methods are reported.</p>
Biochimica Clinica ; 17(1)
Rassegne - Reviews