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


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

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



Area soci
Non possiedi o non ricordi la password!
Clicca qui

BC: Articoli scritti da M. Bozzola

Identificazione di geni di normalizzazione per studi trascrizionali con Polymerase Chain Reaction
Identification of genes for normalization of RT-qPCR gene expression data: a review of published literature
<p>Reverse-transcriptase quantitative Polymerase Chain Reaction (RT-qPCR) is a well-established technique to quantify gene expression levels and critically depends on reference genes for data normalization.<br />We performed a review of biomedical literature to analyse the usage of RT-qPCR in relation to other techniques for transcriptional analyses and to describe practices for the identification of suitable reference genes for RT-qPCR.<br />In the 81 analysed studies, 3 genes (GAPD, ACTB, B2M) were included in &ge;70% of cases, but ranked among the most stable genes in &le;1/3 of cases. The most frequently used normalizing algorithm was geNorm(83%), followed by NormFinder(73%) and BestKeeper(32%).<br />We also analysed transparency and good laboratory practices based on adherence to the Minimum Information for Publication of Quantitative Real-Time PCR Experiments (MIQE) guidelines, using selected validated evaluation criteria. Overall, key MIQE criteria were satisfied in &ge;50% of analyzed studies, but only four criteria (details of employed kit/enzyme for reverse transcription, priming method, primers/probes and DNA polymerase) were satisfied in &ge;90% of cases. Data on assay repeatability were reported only in 15% of studies. The presence of pseudogenes as a potential confounder of assay specificity was evaluated only in 13% of studies. Finally, as few as 6% of studies accounted for the presence of known mutations of singly nucleotide polymorphisms when designing assay primers/probes.<br />Better adherence to the MIQE guidelines should be encouraged. Publicly available transcriptomic and genomic data sets could be employed to refine the identification of suitable normalizing genes and to assist assay design.</p>
Biochimica Clinica ; 43(4) 357-365
Rassegne - Reviews
 
I marcatori di clonalità per la diagnosi e la valutazione della risposta alla terapia nell’amiloidosi da catene leggere: il ruolo del laboratorio
Clonal biomarkers for diagnosis and response to treatment assessment in light chain amyloidosis: the role of the laboratory
<p>Serum monoclonal components, Bence-Jones proteinuria (PBJ) and free light chains (FLC) are clonal biomarkers for diagnosis and response assessment in light chain (AL) amyloidosis. Two clinical reports are presented here toi llustrate the utility of these biomarkers. The first case is a patient with AL &kappa;appa renal amyloidosis. Serum and urine immunofixation were negative and the FLC ratio was abnormal. Immunoelectron microscopy on tissue biopsy was negative. Amyloid typing was achieved by mass spectrometry on fat pad aspirate. The second case is a patient with AL cardiac amyloidosis with PBJ lambdaand low concentration of amyloidogenic FLC (32 mg/L). Urine capillary electrophoresis was used to assess response to treatment. The progressive reduction of PBJ after treatment was accompanied by reduction of NT-proBNP and improvement of clinical conditions. Clonal biomarkers are irreplaceable tools in management of AL amyloidosis. There is a need for more sensitive techniques for identification of monoclonal FLC on serum and urine.</p>
Biochimica Clinica ; 17(1)
Casi Clinici - Case Report
 
Un caso di gammopatia monoclonale di significato renale
A case of monoclonal gammopathy of renal significance
<p>Monoclonal gammopathy of renal significance (MGRS) is a condition defined by the presence of a small-B cell clone causing a renal disease trough deposition in renal tissues of the monoclonal component (MC) secreted by the B cells. Since MGRS is associated with several types of renal diseases, characterization of renal damage caused by protein deposition is important to define the correct diagnosis as well as the identification of the MC. Adult Fanconi Syndrome (FS) is characterized by the presence of a MC and damage in the proximal tubule with impaired small molecules transport. We report the case of a 32 years old man with moderate kidney failure, normoglycemic glycosuria and hypouricemia. Further investigations revealed hypophosphoremia and phosphaturia; an IgG&kappa; MC was detected by immunofixation. The kidney biopsy confirmed FS suspect. This case underlines that the results of the biochemical analysis carried on for the diagnosis of FS, need to be confirmed by histopathologic analysis.</p>
Biochimica Clinica ; 17(1)
Casi Clinici - Case Report