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
☩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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Responsible Editor
Giuseppe Agosta

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Arianna Lucini Paioni
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it



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BC: Articoli scritti da F. Cariati

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
 
La Medicina di Laboratorio: gli specialisti di domani
Laboratory Medicine: specialists of tomorrow
<p>Laboratory Medicine rides the wave of technological progress, themetamorphosis of information systems and data management. The Young Specialist is not a mere observer, butrather 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 andprevention. Thanks to the support of international web platforms, training and exchange programs supported by theInternational Scientific Societies and Federations that favor professional and scientific growth, Young Scientists workin a global context. In this scenario, the SIBioC Young Scientists Study Group, with the auspices of SIBioC, EFLMand IFCC, organized a meeting on &quot;Laboratory Medicine: Specialists of tomorrow&quot; with the aim of discussing andhighlighting some of the most important challenges, such as technological progress, training and internationalizationof young people. Finally, the future of laboratory medicine looks at a multidisciplinary approach that leads tointegrated diagnosis, identification of the frail patient, the use of the Point of Care Testing as an indispensable tool incrisis areas, making the dialogue between physician and laboratory specialist a fundamental step for the diagnosisand treatment with the final aim of a better outcome for the patient.</p>
Biochimica Clinica ; 17(1)
Documenti - Documents