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Articoli in pubblicazione

CONTRIBUTI SCIENTIFICI
Polimorfismi dei geni KLK3, RASA1 e NAALADL2: rischio di cancro alla prostata, aggressività della neoplasia e livelli sierici dell’Antigene Prostatico-Specifico
Polymorphisms of KLK3, RASA1 and NAALADL2 genes: prostate cancer risk, aggressiveness of neoplasia and serum PSA levels
D. Bozzato  |  C.F. Zambon  |  A. Padoan  |  M. Pelloso  |  A. Aita  |  S. Moz  |  F. Navaglia  |  T.P. Galetti  |  F. Zattoni  |  D. Basso  |  M. Plebani  | 

Background: prostate cancer (Pca) is the second most common cancer among men and the sixth leading cause of death due to cancer among men worldwide. We aimed to verify if serum PSA levels and PCa risk/aggressiveness are modulated by polymorphisms of KLK3, RASA1 and NAALADL2 genes.
Methods: 1058 men have been studied; they consecutively underwent prostate biopsy for clinical suspicion of PCa. PCa was histologically diagnosed in 401 and ruled out in 657 men. Gleason score in PCa patients was ≤6 in 261, 7 in 83 and >7 in the remaining 57 PCa. tPSA and f/tPSA levels were determined. Four polymorphisms were studied: rs35148638 (RASA1), rs78943174 (NAALADL2), rs2735839 and rs17632542 (KLK3).
Results: PCa diagnosis was significantly predicted by the KLK3 rs17632542 polymorphism (p<0.001), tPSA (p<0.001) and f/tPSA (p<0.001). Carriers of the KLK3 rs17632542C rare allele had a significantly higher risk of PCa (p<0.001) (OR 2.1, 95% CI 1.40-3.19). Gleason score >7 was associated with increased tPSA (p<0.001), decreased f/tPSA (p=0.003) and the KLK3 rs2735839 A rare allele (p= 0.004). In controls, tPSA was significantly lower in subjects bearing NAALADL2 rs78943174T rare allele (p=0.029). f/tPSA was higher in subjects with the KLK3 rs17632542C rare allele (p<0.001) and with the RASA1 rs35148638 C/C genotypes (p=0.009). In PCa subjects, tPSA was not associated with the polymorphisms studied.
Conclusions: KLK3 rs17632542 and rs2735839 polymorphisms were significantly associated with the risk and aggressiveness of PCa respectively. NAALADL2, KLK3 rs17632542 and RASA1 polymorphisms were correlated with tPSA and f/tPSA serum levels, suggesting a genetically-based PSA expected values in absence of tumor. These results suggest a potential role of these polymorphisms as biomarkers for PCa in association with the diagnostic and prognostic indexes currently recognized.

TAG: cancro alla prostata   prognosi   polimorfismo genetico  
Biochimica Clinica
DOI: 10.19186/BC_2020.045
Pubblicato online il: 09.09.2020
Contributi Scientifici - Sscientific Papers
 
Il “Libro Bianco” dei Giovani Professionisti di Medicina di Laboratorio in Italia: risultati dell’indagine del Gruppo di Studio SIBioC Young Scientists
The "white paper" of young Laboratory Medicine professionals in Italy: results from a survey by the SIBioC - Young Scientists Working Group

Introduction: Laboratory Medicine is continuously changing because of the advent of new technologies and perspectives, such as automation, Big Data and omics sciences. Professionals’ profiles are changing concurrently, developing the new technological, clinical and management skills required nowadays. In order to assess training needs as well as education and working conditions, the SIBioC Young Scientists Working Group (YS-WG) promoted a questionnaire directed to professionals ≤40 years old.
Methods: the questionnaire was prepared using Survey Monkey and was sent to the 587 SIBioC members ≤40 years old; it was also diffused via the YS-WG social media pages, and through personal e-mails with the help of Specialty School Offices. The questionnaire included 54 questions examining different aspects: participation in SIBioC activities, scientific interests, working conditions, evaluations of training and education experiences, expectations for the future professional life.
Results: during three months, 282 responses have been collected. The most represented professionals are Biologists (PhD) (46%), followed by Medical Doctors (24%). 33% of participants has an open-ended contract, 15% temporary, 17% freelance and 17% has a scholarship/research grant; 46% of them do not receive any remuneration. Around 60% work in public institutions (Universities or Hospitals); 52% are involved in clinical area, 29% in research. Residents’ evaluation on educational quality of Specialty Schools is rather heterogeneous. Among the 193 SIBioC members, 35% is actively participating in at least one of the society’s Working Group. Most of the participants are regular readers of the SIBioC official journal (Biochimica Clinica), consult LabTestsOnline web site, and participate to SIBioC scientific events and/or to the Society e-learning courses.
Conclusions: the results of the survey are a key point for the Society, allowing to understand the young laboratory professionals needs, so that they can be accompanied and encouraged in a full development of their future professional life.

TAG: young scientists   scuole di specialità   medicina di laboratorio  
Biochimica Clinica
DOI: 10.19186/BC_2020.042
Pubblicato online il: 08.09.2020
Contributi Scientifici - Scientific Paper
 
DOCUMENTI SIBioC
Documento congiunto di SIBIOC, della Società Italiana dell’Osteoporosi, del Metabolismo Minerale e delle Malattie dello Scheletro (SIOMMMS), della Sezione Italiana della European Ligand Assay Society (ELAS), e della Associazione Medici Endocrinologi (AME)
Joint Document from: Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC), Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases (SIOMMMS), Italina Section of Ligand Assay (ELAS), Association of Endocrinolo

Vitamin D, and its metabolites, have key roles in the functioning of virtually all tissues. Indeed, besides the unquestioned role in bone mineral metabolism, evidences have pointed out roles in inflammation and autoimmunity, skeletal muscle and cardiac function, neuromuscular communication. Therefore, vitamin D deficiency associates with rickets in the child, osteomalacia and increased risk of fracture in the adulthood and possibly with the increased risk
of other pathological conditions. In order to regulate the prescription of vitamin D supplementation (cholecalciferol, cholecalciferol/calcium salts, calcifediol) to the adult population, and consequently to contain the costs sustained by the National Health System, the Italian Medicine Agency (AIFA) has recently drafted the “Nota 96” identifying the categories of patients, based on the laboratory measurement of serum levels of 25(OH)D, that can benefit from the reimbursement of vitamin D therapy. If the “Nota 96”, AIFA has the merit to define rules in a field only sligtly regulated, several considerations emerged from its analysis. From an analytical point of view, the “Nota 96” does not consider the issues of reliability and reproducibility of 25(OH)D measurement and standardization of the units of measurement and reporting. On the clinical side, the “Nota 96” does not consider the epidemic vitamin D insufficiency/deficiency that needs an adequate preventive approach and, furthermore, beyond its roles, the agency indicates the clinical conditions for whom vitamin D prescription is allowed. This document analyses the content of “Nota 96” highlighting the points that need further evaluations and by giving possible different solutions; the document provides also recommendations on laboratory reporting of vitamin D measurements.

TAG: nota AIFA 96   refertazione   vitamina D  
Biochimica Clinica
DOI: 10.19186/BC_2020.075
Pubblicato online il: 07.08.2020
Documenti SIBioC - SIBioC Documents
 
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

The causative gene of Cystic Fibrosis (CF) is the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Although monogenic, CF has a complex genotype – 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 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.

TAG: fibrosi cistica   analisi genetica   screening neonatale  
Biochimica Clinica
DOI: 10.19186/BC_2020.074
Pubblicato online il: 07.08.2020
Documenti SIBioC - SIBioC Documents