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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 F. Cariati

Il microbiota umano: il buono, il brutto e il cattivo
Human microbiota: the good, the bad and the ugly
<p>In recent years, the development and the huge diffusion of Next Generation Sequencing (NGS)-based techniques has allowed the study of microbial communities at a previously unimaginable resolution level. Consequently, the knowledge of the role and functions of the human microbiota in various body sites has increased, identifying several fundamental roles for the microbiota in the development and maintenance of body homeostasis, also in relation to various ages of life. On the other hand, a number of microbiota qualitative and/or quantitative alterations have been associated with several diseases, and the trend is increasing. Since targeted interventions can modify the microbiota, the definition of its composition in physiological and pathological conditions acquires crucial importance for the development of new diagnostic tools and/or therapeutic approaches aimed at manipulating the microbiota.<br />In this context, the definition of standardized protocols and common guidelines to study the microbiota, and therefore the role of Laboratory Medicine, appears to be fundamental for the diffusion of metagenomic analyses in diagnostic contexts and will acquire greater relevance in the near future.</p>
Biochimica Clinica ; 45(2) 109-122
Rassegne - Reviews
Glossario di biologia molecolare e biologia molecolare clinica Parte III: diagnostica molecolare
Glossary of molecular biology and clinical molecular biology. Part III: molecular diagnostics
<p>This document is the third and last section of a glossary on molecular biology. In particular, the main categories of the currently available molecular diagnostic procedures, and the related terminology, will be described herein. Based on the availability of more and more sensitive and standardized technologies for the study of DNA/RNA alterations, molecular diagnostic tests are now widely diffused in clinical laboratories, and commonly offered to patients and their families.<br />Aiming to support less experienced readers, the terms related to the main molecular diagnostic procedures and tests are included in this third part of the glossary. 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 already published in Biochimica Clinica, where they have been used, is reported.</p>
Biochimica Clinica ; 44(2) 174-179
Documenti - Documents
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 ; 44(1) 013-020
Rassegne - Reviews
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
Indicazioni e limiti della diagnosi genetica preimpianto
Indications and limitations for preimplantation genetic diagnosis
<p>The preimplantation genetic diagnosis allows to identify genetic disease and chromosomal alterations in early stages of embryonic development, giving the opportunity to overcome the risk of transmitting an inherited disease and to improve the efficiency of in vitro fertilization techniques. In this paper, we provide an overview of indications and of the advantages and limits of techniques used to perform the preimplantation genetic diagnosis. We describe the multiplex-polymerase chain reaction (PCR) and the karyomapping for the genetic diagnosis of inherited disease as well as the comparative genomic hybridization array, the qualitative real-time PCR and the next generation sequencing for the screening of chromosomal aneuploidy.</p>
Biochimica Clinica ; 41(4) 314-321
Rassegne - Reviews
Individualization of treatment in controlled ovarian stimulation: myth or reality?
<p>Variability in the infertile population excludes the possibility of a single approach to controlled ovarian stimulation. The modern technology has led to the development of new drugs, treatment options and quantitative methods that allow an individualized approach to <em>in vitro</em> fertilization. The personalization of treatments requires a comprehensive evaluation of several important aspects. Age still remains the best predictive factor of gametes euploidy rate. It was estimated that the percentage of abnormal embryos/oocytes increased dramatically in women &gt;35 years old. Strategies to improve the number of vital and euploid embryos in those women represents the most intriguing challenge nowadays, considering that more and more women seeking assisted reproductive technologies are in advanced age. On the other hand, ovarian reserve markers, namely follicle stimulating hormone, anti-Mullerian hormone and antral follicle count are also considered the most accurate predictor of ovarian reserve and could be successfully used to guide controlled ovarian stimulation. Finally, there is an emerging evidence in literature which suggests that the ovarian sensitivity to exogenous gonadotropins could be also influenced by specific genotypes characteristics. If these data will be confirmed, a genetic screening might allow in the future a pharmacogenomic approach to better control ovarian stimulation.</p>
Biochimica Clinica ; 41(4) 294-305
Rassegne - Reviews
Oncofertilità: dove siamo?
An update about oncofertility
<p>Over the last years we are experiencing an increased incidence of cancer in young population. Chemotherapy and radiotherapy often result in reduced fertility in these patients. With increasing survival rates, fertility is becoming an important quality-of-life concern for young cancer patients. They may be interested in parenthood, but the number of patients who access fertility preservation techniques before treatment is low. There is a need for improvements in clinical care to ensure patients about infertility risks and fertility preservation options and to support them in their reproductive decision-making before cancer treatment. Nowadays, many opportunities exist for fertility preservation. Sperm cryopreservation is a well-established method in male. In female, there are several strategies such as ovarian suppression with gonadotropin-releasing hormone analogues, ovarian tissue cryopreservation, <em>in vitro</em> maturation or<em> in vitro</em> fertilization after ovulation induction. Recently, developed ovarian stimulation protocols using tamoxifen and letrozole have been applied to increase the margin of safety in breast cancer patients. This review is focused on the effect of cancer treatments on fertility and on the assisted-reproduction innovations devoted to the cancer survivors.</p>
Biochimica Clinica ; 41(4) 322-334
Rassegne - Reviews
The improvement of oocyte selection for social freezing application
<p>Lifestyle, educational opportunities, career choices and new unions lead to pregnancy in more advanced age, increasing the emerging preventive solution to freeze oocytes at a young age for later use. In this scenario, the oocyte selection has a great importance in order to choose the best ones capable of a good subsequent embryo development and implantation. The aim of this study was to develop a decision support system, able to classify oocytes according to a score based on morphological features and patients&rsquo; clinical data. The approach would offer a more effective selection method because it is not dependent on the doctor&rsquo;s experience or on an &ldquo;at-first-sight&rdquo; impression. As a first step, a prototype system able to support embryologists in oocyte selection was presented and an experimental evaluation on a real set of data provided. The developed pipeline included the identification of main morphological features influencing oocyte quality and the assignment of a weight and of a better way of measuring them. After that, a standard data format collecting in an organized way all morphological features of oocytes, zigote and embryos and patients&rsquo; clinical data was developed. More than 150 oocytes images, taken in standard and comparable conditions, from 35 women were collected. Morphological features were extracted manually and automatically. A preliminary version of the scoring algorithm was tested on these data.</p>
Biochimica Clinica ; 41(4) 353-357
Contributi scientifici - Scientific papers
La “whole genome amplification” su singola cellula
Whole genome amplification on single cell
<p>The whole genome amplification (WGA) is a method for an entire genome amplification, starting with low amounts of DNA. Particularly, it allows downstream analysis, such as genomic screening [i.e., comparative genomic hybridization (CGH) array, next generation sequencing] and single gene mutation detection in single cells. Because WGA could introduce few bias, dependent on different methods, their selection should be related to the application. The first WGA method was based on amplification reaction and differently from a regular polymerase chain reaction (PCR), in which a single genetic locus is amplified, different locus were amplified simultaneously. Nowadays, several methods have been developed for WGA: degenerate oligonucleotide PCR and primer extension preamplification based on PCR, and multiple displacement amplification achieved with isothermal reaction setup. Each WGA approach has limitations, such as the genome coverage, chimeric DNA molecules, preferential allele amplification or allele drop-out and the guanine-cytosine (GC) richness (GC%). In this review, we detailed different WGA methods for single cell and their most important applications, such as cancer diagnosis and reproductive medicine.</p>
Biochimica Clinica ; 40(4) 293-301
Rassegne - Reviews