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Maria Stella Graziani

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Martina Zaninotto

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Ferruccio Ceriotti
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Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

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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
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Ana-Maria Simundic Croatia
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Giuseppe Agosta

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

BC: Articoli scritti da G. Castaldo

Consensus 2019 per l’analisi genetica in Fibrosi Cistica: presentazione del Documento
Presentation of the Consensus Document 2019 on the genetic analysis of Cystic Fibrosis
<p>The causative gene of Cystic Fibrosis (CF) is the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Although monogenic, CF has a complex genotype &ndash; phenotype relationship mainly originated by the high number of CFTR variants, the challenging mutational analysis, the incomplete functional knowledge and the variable clinical outcome of most variants, the action of modifier genes. This complexity affects diagnosis, prognosis and precision&nbsp;therapy. A correct and complete genetic analysis is crucial for all these aspects. The Consensus Document 2019 on the genetic analysis of CF (1S) provides a guidance to practitioners for the appropriate request and proper use of genetic testing in CF, as well as for the correct interpretation of the test result. It is to be hoped that the broad sharing achieved between the scientific societies involved can standardize the approach at national level and can improve the usefulness of the information provided to users, as part of a continuous process of improvement.</p>
Biochimica Clinica ; 44(4) 397-399
Documenti SIBioC - SIBioC Documents
Oncologia di precisione: la terminologia è importante.
Precision oncology: when the metrics does matter.
<p>Precision oncology can be considered as the application of &quot;Precision Medicine&quot; to the management of cancerpatients. Although this new chapter of the modern medicine is really exciting and many clinicians and researchers arespending some efforts in the setting of tests and clinical trials able to identify new potential biomarkers, theidentification of the specific oncogenic mutation driving the tumor growth and giving a chance of target-selective drug,still remains challenging. Sometimes the term precision medicine as wee as precision oncology can be consideredtoo simplistic: in practice, indeed, some important issues like the genetic heterogeneity of tumors, the complexity ofpathways used by different tumors, and the inevitable development of drug resistance, are not considered as a partof complete patients&rsquo; disease evolution. Therefore, in order to guide clinicians and laboratory community to harmonizethe metrics surrounding the precision oncology path, a glossary has been defined by an intersociety group. Thepresent joint document has been elaborated by the following scientific societies: Italian Society of Clinical Chemistry(SIBioC), Italian Association of Medical Oncology, Italian Association of Clinical Pathology (SIAPEC), Italian Societyof Farmacology (SIF) and is aimed to allow the research and clinical communities to familiarize with new conceptsand terminologies which are not often well defined. We underline as, in the management of the paths related to theprecision oncology, the terminology is fundamental, both for the scientific aspects and for those related to thecommunication with the patients. Therefore, below is a glossary that can be useful to all specialists in the clinical area,basic and translational research.</p>
Biochimica Clinica ; 43(3) 339-347
Documenti SIBioC - SIBioC Documents
Le “coppie celebri” in Medicina di Laboratorio
The "famous pairs" in Laboratory Medicine
G. Castaldo  | 
<p>Poor appropriateness of laboratory test prescription is a relevant&nbsp;problem in medicine and one of the reasons is that often physicians request &quot;famous pairs&quot; of biochemical tests. For&nbsp;instance, blood urea is typically ordered together with creatinine, plasma cholesterol is always coupled to&nbsp;triglycerides, erythrosedimentation rate is frequently associated to anti-streptolysin O titer and the same is true for&nbsp;transaminases, C-reactive protein and rheumatoid factor, anti-endomisial and anti-gliadin antibodies, amylase and&nbsp;lipase, prothrombin time and activated partial thromboplastin time, <span style="font-family:symbol">a</span>-fetoprotein and carcinoembrionic antigen. This&nbsp;paper discusses the reason why most pairs are inappropriate and their request may generate results that are useless&nbsp;to clinical diagnosis. Laboratory should actively help physicians in requesting and interpreting laboratory tests.&nbsp;Assisting models can be useful (e.g., the laboratory could plan to perform a second level test only when the first level&nbsp;one is altered). More importantly, guidelines for a proper test prescription should be shared by laboratory and clinical&nbsp;scientific societies.</p>
Biochimica Clinica ; 38(4) 307-313
Opinioni - Opinions
Suicidio tra umanesimo e scienza
Suicide between humanism and science
<p>Suicide is among the first 10 causes of death in industrialized countries,&nbsp;even if its incidence is declining. Familiarity frequently occurs in suicide and a myriad of polymorphisms in candidate&nbsp;genes has been studied as risk factors. Among these, genes encoding enzymes, transporters or receptors of the&nbsp;serotoninergic and dopaminergic systems have been widely studied with conflicting results. Also the metabolism of&nbsp;cholesterol (and serum cholesterol concentrations) seems to have a role in the pathogenesis of suicide. In the last&nbsp;years, our group contributed to study brain derived neurotrophic factor (BDNF) and its TrkB receptor genes in the&nbsp;DNA from Wernicke area from a large cohort of suicide subjects and controls. In particular, we excluded that the<br />expression of BDNF and its receptor may be modulated by gene mutations. However, the levels of BDNF gene<br />expression were significantly lower in the brain tissue from suicide subjects. We demonstrated that the altered BDNF&nbsp;expression was due to the enhanced methylation of BDNF promoter. These studies first revealed the association&nbsp;between epigenetics and suicide suggesting a novel model of interaction between environment and genes in the&nbsp;pathogenesis of suicide.</p>
Biochimica Clinica ; 38(2) 121-128
Opinioni - Opinions
Identificazione e ruolo dell’esperto in emostasi e trombosi nel Sistema Sanitario Nazionale
Identification and role of the hemostasis and thrombosis expert in the National Health System
<p>Hemorrhagic&nbsp;and thrombotic diseases are very heterogeneous disorders that may affect a relevant part of the population, as in the&nbsp;case of patients taking antithrombotic drugs. The appropriate management of such conditions requires the availability&nbsp;of specific laboratory assays, together with the knowledge of possible clinical syndromes and of their appropriate&nbsp;treatments. This can be achieved only through second level specialized laboratories supervised by trained personnel.&nbsp;This type of diagnostic and therapeutic organization is not widely available in Italy, but it is present in a limited number&nbsp;of major hospitals, having a nationwide excellence. Increasing the availability of such resources would be very&nbsp;relevant for patients and this effort could also be cost-effective for the National Health System. This document,&nbsp;promoted by the Societ&agrave; Italiana per lo Studio dell&rsquo;Emostasi e della Trombosi and by other major national scientific&nbsp;societies involved in the field is aimed at identifying the level of scientific and professional career required to define&nbsp;a physician as hemostasis and thrombosis expert, graded for the skills required in different clinical settings.</p>
Biochimica Clinica ; 38(1) 39-46
Documenti SIBioC - SIBioC Documents
Emofilia, come si concluderà la storia?
Hemophilia, how will end the story?
<p>Hemophilia A (HA) and B (HB) are the most frequent inherited bleeding&nbsp;disorders caused by defects in the F8C and F9 genes that encode coagulation factor VIII and factor IX, respectively.&nbsp;Both HA and HB are X-linked recessive diseases and have an incidence of 1:5000 and 1:30,000 males, respectively.&nbsp;The diagnosis is based on normal prothrombin time, altered activated partial thromboplastin time and reduced activity<br />of factor VIII or factor IX in plasma. Furthermore, laboratory contributes to identify the inhibitor (an immunoglobulin&nbsp;against the factor that some hemophilic patients develop during therapy) and to reveal acquired hemophilia. Carrier&nbsp;females of HA and HB are tipically asymptomatic and can be identified only by molecular analysis; their evaluation is&nbsp;important, as one third of cases of hemophilia is due to novel mutations and in these cases the mother (and&nbsp;consanguineous females) of the proband have no risk to be carrier. Both diseases are due to a myriad of different&nbsp;mutations (mostly private), so that the molecular diagnosis is based on scanning techniques or gene sequencing.&nbsp;Given the number of hemophilic patients that experience severe perinatal complications, high-risk couples usually&nbsp;require prenatal diagnosis. We revise here our experience on 50 prenatal diagnoses of hemophilia. The clinical&nbsp;heterogeneity of hemophilic patients prompted many groups to study prothrombotic gene variants in these subjects&nbsp;to investigate whether such variants modify the clinical expression of disease. Finally, therapy (using recombinant&nbsp;factors) and, in a near future, gene therapy will change the natural history of hemophilic patients.</p>
Biochimica Clinica ; 37(6) 454-460
Rassegne - Reviews