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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 A. Mosca

Glycated albumin stability in frozen plasma samples
R. Paleari  |  G. Santini  |  A. Mosca  | 
Biochimica Clinica ; 46(2) 180-181
Lettere all'Editore - Letters to the Editor
Guida completa allo studio delle emoglobinopatie
Biochimica Clinica ; 46(2) 092-093
Editoriale -
How to report HbA1c in presence of hemoglobin variants
How to report HbA1c in presence of hemoglobin variants
<p>Measurement of glycated hemoglobin (HbA1c) has a key-role in the management of diabetic patients. Clinicians need reliable and accurate measurements, with negligible pre-analytical and post-analytical errors. Among the preanalytical variables, the presence of hemoglobin variants is a challenge to the laboratorians, both on pre-analytical and analytical phase. The purpose of this document is to give some practical advices on how to report HbA1c values in presence of hemoglobin variants. This is an update of a previously reported document, published in 2011. The list of the most diffused method for measuring HbA1c has been updated, and the most recent enzymatic assays have been included. A new aspect concerns the post-analytical phase, in which we recommend to report the presence of the hemoglobin variant in the final laboratory report</p>
Biochimica Clinica ; 46(2) 176-179
Documenti SIBioC - SIBioC Documents
Performance evaluation of ARKRAY HA-8190V system for measuring glycated hemoglobin
Performance evaluation of ARKRAY HA-8190V system for measuring glycated hemoglobin
R. Paleari  |  F. Ceriotti  |  A. Mosca  | 
<p>Introduction: the new fully automated HPLC ion-exchange system ADAMS A1c HA-8190V analyzer, developed by ARKRAY Inc., running in two different modes (Variant and Fast) has been evaluated.<br />Methods: reproducibility was evaluated according to the EP-15A3 standard. Method comparison was performed on 122 fresh blood samples, according to the EP-9 standard. The system was compared to 3 other HPLC analyzers, based on ion-exchange (Tosoh G11 and Bio-Rad D-100) and boronate affinity chromatography (Trinity Biotech Premier Hb9210). Usability was evaluated by using to a score evaluation system.<br />Results: reproducibility proved to be very good at normal and high HbA1c concentration, with total CVs always &lt;0.7 %, when HbA1c was expressed in mmol/mol as well as in % units. The HA-8190V system was well correlated to the other HPLC analyzers, with a mean bias not clinically relevant. Finally, the usability of the system was evaluated and proved to be well acceptable.<br />Conclusions: the ARKRAY HA-8190 V system was found to be a reliable and suitable method for routine HbA1c measurement in clinical chemistry laboratories.</p>
Biochimica Clinica ; 46(1) 068-073
Contributi Scientifici - Scientific Papers
Adesione alle raccomandazioni dei gruppi di studio SIBioC-SIPMeL (Società Italiana di Patologia Clinica e Medicina di Laboratorio) e SID (Società Italiana di Diabetologia) sulla fase preanalitica per la determinazione della glicemia: ancora margini di miglioramento. Risultati di una indagine conoscitiva nazionale
Adherence to the recommendations of the SIBioC-SIPMeL (Società Italiana di Patologia Clinica e Medicina di Laboratorio) and SID (Società Italiana di Diabetologia) study groups on the preanalytical phase for blood glucose measurement: still room for improvement. A National Survey on the state of art.
A. Terreni  |  M. Carta  |  D. Giavarina  |  V. Miconi  |  A. Mosca  |  G. Bonetti  | 
<p>Introduction: glucose measurement is pivotal in the management of subjects with diabetes mellitus. Laboratories should provide the most useful information to the clinician in order to ensure the best patient outcome.<br />Methods: in October 2019 a survey has been conducted by SIBioC and SIPMeL Study Groups on &ldquo;Diabetes Mellitus&rdquo; and by the Italian Diabetes Society to verify if their recommendations on preanalytical phase have had an impact on Italian laboratory procedures. Fifteen questions were submitted to all SIBioC and SIPMeL members and 190 complete responses were collected, corresponding to around 5% of all Italian laboratories.<br />Results: 74% of the laboratories (n=46) are aware of the recommendations of the &ldquo;Diabetes Mellitus&rdquo; Study Groups, but only 24% apply them. 61% of the first group centrifuges the collection tubes immediately, providing a rapid plasma separation; 9% place the tubes immediately in an ice-water slurry and separate the plasma within 30 minutes. Only 14 of the responders use citrate buffer/sodium EDTA/sodium fluoride (NaF) tube in lyophilic formulation.<br />The survey allowed to determine also which kind of tube is commonly used: for outpatients, 52 (30%) laboratories use serum or heparinized tubes with separator gel, 46 (24%) of the remaining of laboratories use NaF plasma and heparinized plasma tubes. For hospitalized patients, 99 (52%) laboratories utilizes tubes with separator gel or coagulation activator, while 19 (10%) and 15 (8%) respectively use NaF plasma and heparinized plasma. To perform the Oral Glucose Tolerance Test (OGTT), 84 (43%) laboratories uses tubes without glycolysis inhibitors or separator gel, and only 12 laboratories uses tubes with acidified ternary mixture.<br />Conclusion: considering these non-completely satisfactory findings, the educational activity of SIBioC working groups on &ldquo;Diabetes Mellitus&rdquo; and &ldquo;Variability of Extra-analytical phase&rdquo; should be continued, since they appear to be essential for the improvement of the laboratory procedures.</p>
Biochimica Clinica ; 45(3) 248-257
Contributi Scientifici - Scientific Papers
Malattia renale nel diabete: oltre la nefropatia diabetica
Kidney disease in diabetes: beyond diabetic nephropathy
<p>Chronic kidney disease is a major type of kidney disease where a gradual loss of kidney function over a period of months to years can be observed. Its early detection is critical in improving the clinical outcome. It may be associated to diabetes, the illness being cause of the nephropathy, and then the condition is known as diabetic kidney disease (DKD). However, it may be associated to diabetes, but the pathogenesis arising could be attributable to other reasons, and then the condition is known as non diabetic kidney disease (NDKD). In this review we will focus on these two conditions, and we will briefly outline the state of the art of some traditional biomarkers (the quantitative determination of albumin in urine, eGFR), the role and the interpretation of some established biomarkers for the evaluation of glycemic control (glycated hemoglobin and glycated albumin) and the potential use of other new biomarkers useful to predict the development of the nephropathy.</p>
Biochimica Clinica ; 45(3) s048-s059
Rassegne - Reviews
Diagnosi del diabete gestazionale durante l’emergenza COVID-19: semplificazione del protocollo
Biochimica Clinica ; 44(4) 009-010
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
<p>Introduction: Laboratory Medicine is continuously changing because of the advent of new technologies and perspectives, such as automation, Big Data and omics sciences. Professionals&rsquo; 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 &le;40 years old.<br />Methods: the questionnaire was prepared using Survey Monkey and was sent to the 587 SIBioC members &le;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.<br />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&rsquo; 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&rsquo;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.<br />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.</p>
Biochimica Clinica ; 44(4) 351-358
Contributi Scientifici - Scientific Paper
Importanza dello screening per il deficit di G6PD durante l’emergenza COVID-19
Screening for G6PD deficit during COVID-19 emergency
<p>Hydroxychloroquine, a well known anti-malaria drug, is now widely used in the early treatment of patients infected with SARS-CoV-2. Since chloroquine and its derivatives may cause an acute hemolytic crisis in subjects with glucose 6-phoshpate dehydrogenase (G6PD) deficiency, with different penetrance in men and in women, we recommend that: a) before using these drugs, especially in elderly subjects, the G6PD catalytic activity should be quantitatively estimated; b) all the G6PD deficient subjects treated with chloroquine and its derivatives have to be characterized at molecular level, in order to identify G6PD deficient subjects in their families; c) to be on the safe side, the use of hydoxycholoroquine or chloroquine in carriers of severe G6PD deficiency, and infected by SARS-CoV-2, should be avoided; if treated, the patients should be alerted on the possible hemolytic risks, and care should be paid to the best laboratory indicators of such episodes (whole blood cell count, serum bilirubin, serum LDH, and hemoglobinuria).</p>
Biochimica Clinica ; 44(4) 011-012
Il deficit di G6PD in Medicina di Laboratorio
G6PD deficiency in Laboratory Medicine
<p>Glucose 6-phosphate dehydrogenase has a key role in the production of the reducing power necessary to face oxidative stress and for providing ribose, which is a basic constituent of nucleic acids. It is therefore not surprising that the gene is present in all organisms, and that is also highly conserved during the evolution. The occurrence of G6PD mutants may have important consequences in carriers, depending on the class of the mutants, triggering events and various comorbidities. Acute and chronic hemolytic anemias are the most typical clinical hallmarks. The determination and characterization of G6PD can be achieved by qualitative tests, various quantitative catalytic activity determinations, and by molecular biology techniques. Sample collection and stability is not a critical problem, but some pre-analytical conditions in vivo(previous transfusions, recent blood losses) should be known by the laboratory before measuring G6PD. A number of quantitative methods is available and there is no consensus on the measuring temperature (30 or 37&deg;C) and on the reference ranges. The consequence is that the state-of-the-art of the various methods is variable, as clearly proven from recent EQAS analyses. Moreover, analytical goals have not been defined yet. In conclusion, we believe that this test needs better attention from laboratory professionals in order to offer an improved service to patients with G6PD deficiency anemias and related complications.</p>
Biochimica Clinica ; 44(3) 219-231
Rassegne - Reviews
In ricordo di Jan-Olof Jeppsson
A. Mosca  |  V. Bianchi  | 
Biochimica Clinica ; 44(3) 320
Notizie SIBioC - SIBioC News
Ruolo chiave del laboratorio nella diagnosi del diabete gestazionale: forse la prevalenza è sotto-stimata
Biochimica Clinica ; 44(2) 116
Editoriale - Editorial
La determinazione dell’insulina richiede particolari attenzioni
A. Mosca  | 
Biochimica Clinica ; 43(3) 255
Editoriale - Editorial
Il Syllabus di EFLM per la formazione post-laurea dei professionisti Europei: una preziosa opportunità per la definizione a livello europeo dello Specialista in Medicina di Laboratorio
<p>Biochimica Clinica propone in questo numero la traduzione della versione 5 del Syllabus (4), il cui testo originale &egrave; accessibile come materiale supplementare sul sito delle rivista (1S). La versione corrente, rispetto alla precedente, dettaglia maggiormente i requisiti all&rsquo;interno delle singole discipline e vi aggiunge le tecniche analitiche innovative e la conoscenza delle tecniche statistiche. Viene anche proposta una struttura per il percorso di formazione nonch&eacute; le rispettive responsabilit&agrave; del discente e dei docenti. Questo &ldquo;log book&rdquo; &egrave; pure disponibile come materiale supplementare sia nella versione originale (2S) che nella traduzione Italiana (3S). Questa posizione ufficiale di EFLM intende essere di supporto per il CTF, e agli obiettivi della direttiva, nella salvaguardia della mobilit&agrave; professionale all&rsquo;interno dei Paesi europei, in un momento storico nel quale si assiste ad un aumento della domanda di professionisti qualificati accompagnata peraltro da una diseguale distribuzione degli stessi (5). La traduzione del Syllabus &egrave; preceduta da una presentazione di Gilbert Wieringa, Chair del Profession Committee di EFLM.</p>
Biochimica Clinica ; 42(3) 189-190
Editoriale - Editorial
Raccomandazioni per l’ottimizzazione della fase pre-analitica per una corretta determinazione della glicemia in ambito diabetologico
Correct determination of glycemia in the management of diabetes: recommendations for the optimization of the pre-analytical phase
G. Bonetti  |  M. Carta  |  A. Lapolla  |  R. Miccoli  |  R. Testa  |  A. Mosca  | 
<p>The time-dependent decrease of glucose in tubes after venipuncture may cause artificially lower values, if glycolysis is not appropriately inhibited by the correct anticoagulant. In this work we have extensively reviewed the current literature about the possible use of citrate buffer together with sodium EDTA and sodium fluoride. We conclude that, for screening and diagnosis of diabetes mellitus, including gestational diabetes, glucose has to be determined in plasma by using the above mentioned ternary mixture either as solid or in liquid state (in this case the correct numerical conversion factor has to be employed). For the measurement of glucose in patients with already known diabetes and following monitoring, lithium heparin tubes may be used providing that plasma separation should be rapidly performed. Alternatively, serum-separating tubes with particles promoting rapid clotting could also be employed.</p>
Biochimica Clinica ; 42(3) 263-265
Documenti SIBioC - SIBioC Documents
In ricordo di Silvana Penco
In memory of Silvana Penco
A. Mosca  | 
Biochimica Clinica ; 41(2) 194
Notizie SIBioC - SIBioC News
Armonizzazione in Medicina di Laboratorio
Harmonization in Laboratory Medicine
F. Ceriotti  |  M. Panteghini  |  A. Tosetto  |  V. Valentini  |  L. Politi  |  R. Rolla  |  T. Guastafierro  |  T. Köken  |  E. Capoluongo  |  C. Mazzaccara  |  V. D'Argenio  |  V. D'Argenio  |  G. Lippi  |  M. Plebani  |  D. Giavarina  |  M. Berardi  |   A survey on sample matrix and preanalytical management in clinical laboratories  |  D. Bozzato  |  G. Messeri  |  M. Zaninotto  |  M. Vidali  |  A. Padoan  |  G. Parigi  |  A. Clerico  |  L. Sciacovelli  |  M. Ciaccio  |  G.L. Salvagno  |  G. Barberio  |  G. Barberio  |  G.L. Salvagno  |  M. Pepe  |  M. Panteghini  |  F. Braga  |  G. Gessoni  |  M. Montagnana  |  N. Doğan  |  M. Barberis  |  M. Barberis  |  A. Marchetti  |  F. Borrillo  |  L. Bonfanti  |  P.M. Ness  |  G. Messeri  |  S. Nannini  |  J. Queraltò  |  M. Zaninotto  |  A. Mosca  |  BM. Henry  |  G. Santini  |  A. Coglianese  |  V. D'Argenio  |  E. Fiorio  |  L. Crinò  |  M. A. V. Willrich  |  A. Modenese  |  M. Berardi  |  G. Nordera  |  M. Girelli  |  R. Tomaiuolo  |  D. Giavarina  |  R. Dittadi  |  L. Pighi  |  V. Guaraldo  |  G. Bambagiotti  |  R. Danesi  |  M. Locatelli  |  F. Balboni  |  D. Cosseddu  |  M. Savoia  |  S. Bernardini  |  C. Domenichini  |  M. Lamonaca  |  M. Perrone  |  M. Perrone  |   per il Gruppo di Studio Intersocietario SIBioC-SIPMeL Diabete Mellito  |  P. Pradella  |  A. Padoan  |  M.T. Sandri  |  L. Belloni  |  A. D'Avolio  |  T. Trenti  |  A. Fortunato  |  T. Trenti  | 
Biochimica Clinica ; 39(6) 546-547
Editoriale - Editorial
Il progetto pilota SIBioC di VEQ della misura dell’emoglobina glicata
Pilot SIBioC EQAS project on glycated hemoglobin measurement
<p>Two fresh blood samples collected with EDTA&nbsp;were distributed by courier in December 2014 to 206 Italian laboratories asking for the determination of their HbA<sub>1c</sub> concentrations. Target HbA<sub>1c</sub> values were assigned by the IFCC reference measurement procedure based on HPLC capillary&nbsp;electrophoresis. The results, collected from 193 laboratories using analytical systems mainly from five&nbsp;manufacturers (Bio-Rad Laboratories, A. Menarini Diagnostics, Roche Diagnostics, Sebia and Tosoh), showed a&nbsp;global variability (in terms of CV) of 5.3% and 3.8% at HbA<sub>1c</sub> values of 37.4 mmol/mol (sample 1) and 62.0 mmol/mol&nbsp;(sample 2), respectively. Globally, 84% of the participants reported HbA<sub>1c</sub> results within the total allowable error (TE)&nbsp;of 8.6% (sample 1) and 93% for sample 2. These percentages decreased to 70% and 77%, respectively, when using&nbsp;a goal for the allowable TE of 6.0% as criterion. Inter-laboratory CVs, calculated per group of methods, were between&nbsp;3.3% and 5.0% and between 2.2% and 3.7% for sample 1 and 2, respectively. Tosoh users registered the smaller&nbsp;inter-laboratory CV in sample 1 and Sebia&rsquo;s in sample 2. With regard to trueness, all methods had a mean bias &le;2.8%&nbsp;respect to the target values, with the exception of Tosoh (bias of +6.1% and +5.8%, for samples 1 and 2, respectively).</p>
Biochimica Clinica ; 39(6) 568-574
Contributi scientifici - Scientific Papers
Inibizione della glicolisi e accuratezza preanalitica nella misura della glicemia: la posizione del Gruppo di Studio SIBioC-SIPMeL Diabete Mellito
Glycolysis inhibition and reliable plasma glucose results: the position of the SIBioC-SIPMeL Study Group on Diabetes Mellitus
Biochimica Clinica ; 39(3) 223-224
Lettere all'Editore - Letters to the Editor
Raccomandazioni 2015 per l’esecuzione dell’esame da carico orale di glucosio
2015 recommendations for oral glucose tolerance testing (OGTT)
M. Carta  |  A. Mosca  |  A. Lapolla  |  R. Testa  | 
<p>Despite its large use and importance, OGTT is&nbsp;still plagued by poor reproducibility and sometimes is not appropriately performed. In 2006 the joint Study Group on&nbsp;Diabetes mellitus made recommendations concerning OGTT in order to harmonize the test procedure according to&nbsp;WHO and American Diabetes Association guidelines. This document should be regarded as an updated version of the&nbsp;original 2006 recommendations, including some improvements and changes, particularly regarding the use of OGTT for&nbsp;the diagnosis of gestational diabetes in agreement with the 2010 guidelines of the Italian Ministry of Health. The list of&nbsp;drugs having effect on the glucose tolerance has been updated too.</p>
Biochimica Clinica ; 39(2) 135-140
Documenti SIBioC - SIBioC Documents
Raccomandazioni per la diagnosi neonatale delle emoglobinopatie
Recommendations for the diagnosis of hemoglobinopathies at birth
<p>The laboratory plays an important role in the&nbsp;diagnosis of hemoglobin defects at any age. At the time of birth its role is particularly significant, considering that&nbsp;frequently the newborn has not clinical signs, even when he is carrying thalassemia or other structural defects of&nbsp;hemoglobin. The diagnostic precocity in the affected newborn will help to predict risk, determine appropriate prophylaxis&nbsp;and prevent complications. It may also be helpful for programming treatment and parent control, and planning a&nbsp;prevention for a future pregnancy. In Italy, there have been important demographic and social health changes over the&nbsp;past decade that have suggested the implementation of hemoglobinopathy screening at birth. In addition, the need to&nbsp;know the hemoglobin pattern of the cord blood for possible biobank storage should be regarded as another relevant&nbsp;target. Therefore, it seems timely to define pathways, scope and limits of a correct thalassemia diagnosis at birth through&nbsp;specific recommendations. The Italian Society of Thalassemias and Haemoglobinopathies (SITE) had already published&nbsp;recommendations for first level thalassemia diagnosis, which were primarily focused on preconceptional prevention. This&nbsp;new document provides essential guidance about laboratory methods, pre- and post analytical information flows and&nbsp;about the most appropriate approach to be followed.</p>
Biochimica Clinica ; 39(2) 116-134
Documenti SIBioC - SIBioC Documents
Valutazione del sistema Capillarys 2 Flex Piercing per la misura dell’emoglobina A1c
Evaluation of the Capillarys 2 Flex Piercing system for the determination of hemoglobin A1c (HbA1c)
R. Paleari  |  A. Mosca  | 
<p>The&nbsp;Capillarys HbA<sub>1c</sub> kit implemented on the Capillarys 2 Flex Piercing platform uses capillary electrophoresis to separate&nbsp;and quantify HbA<sub>1c</sub> in human blood. We performed an evaluation of this system by checking imprecision, relative bias&nbsp;and robustness respect to the analysis of samples with variable total hemoglobin concentrations. Intra-assay CVs were&nbsp;between 1.1% and 2.8% for HbA<sub>1c</sub> values between 35.8 mmol/mol and 96.4 mmol/mol. Inter-assay CVs, evaluated on&nbsp;control materials, were 2.0% and 2.4 % for high (68.6 mmol/mol) and low (36.8 mmol/mol) control levels, respectively.&nbsp;Results in three blood samples with various concentrations of HbA<sub>1c</sub> (36, 60 and 87 mmol/mol) were not affected by&nbsp;variation in total hemoglobin concentrations (between 40 to 180 g/L). Only at very low total hemoglobin concentration,&nbsp;the imprecision was slightly higher (CV 3.1%). The results obtained by capillary electrophoresis (y-method) were well&nbsp;correlated with those obtained by the HPLC Tosoh G8 (x-method) (y = 0.73 + 0.978x, r=0.998, n=100).</p>
Biochimica Clinica ; 38(2) 110-114
Contributi scientifici - Scientific papers
M.S. Cigoli  |  S. Penco  |  A. Mosca  | 
<p>Cystinuria is a rare inherited disorder, generally transmitted as an autosomal recessive trait. It is&nbsp;characterized by defective resorption (for deficits of transporter proteins) of cystine and dibasic amino acids at the&nbsp;level of renal proximal tubules and, to a lesser extent, of intestinal cells. The low solubility of cystine at physiologic&nbsp;urinary acidity leads to its precipitation in the form of crystals and stones, causing the urinary tract obstruction.&nbsp;The two genes responsible for cystinuria are&nbsp;<em>SLC3A1</em>&nbsp;(chromosome 2p21) and&nbsp;<em>SLC7A9</em>&nbsp;(chromosome 19q12),&nbsp;encoding for the heavy subunit rBAT and the light subunit b<sup>0,+</sup>AT of the renal b<sup>0,+</sup> transporter, respectively. Cystinuria&nbsp;can be classified in type I and non-type I on the basis of urinary excretion rate of cystine. Alternatively, cystinuria can&nbsp;be classified as type A (<em>SLC3A1</em>&nbsp;gene mutated), type B (<em>SLC7A9</em>&nbsp;gene mutated) and type AB (mutations on both&nbsp;genes). Clinical symptoms and positivity of laboratory tests are the basis for diagnosis. Detection of mutations in&nbsp;<em>SLC3A1</em>&nbsp;and&nbsp;<em>SLC7A9</em>&nbsp;genes can be used to confirm the diagnosis and to identify possible carriers within the patient&nbsp;family. Although many advances have been made in the understanding of genetic and physiologic basis of cystinuria,&nbsp;the treatment still involves prevention of stone formation by dietary measures and drug therapy coupled with surgical&nbsp;intervention for stone removal.</p>
Biochimica Clinica ; 38(1) 12-17
Rassegne - Reviews
In ricordo di Renzo Galanello
In memory of Renzo Galanello
A. Mosca  | 
Biochimica Clinica ; 37(4) 332
Notizie SIBioC - SIBioC News
Valutazione multicentrica dell’analizzatore Tosoh G8 per la misura dell’emoglobina A2 e dell’emoglobina F
Multicenter evaluation of the Tosoh G8 analyzer for determination of hemoglobin (Hb) A2 and F
<p>The analytical performance of the new Tosoh automated analyzer HLC-723 G8 (-thalassemia analysis mode) to determine hemoglobin variants and to measure HbA2 and HbF in human blood was evaluated in three Italian centres. The within- and between-run imprecision for HbA2 were good, with CV between 0.2% and 1.8% and between 0.9% and 5.4%, respectively. The CV for HbF was between 0.4% and 9.8% (within-run) and beetwen 0.8% and 13.1% (between-run). The comparability of HbA2 measurements between different centres was excellent (r=0.99), but a significant bias in comparison with the previous version of the instrument was noted. Experiments to test the HbA2 stability in blood confirmed that blood samples stored at -80 &deg;C were stable for at least 4 months and that storage at -20 &deg;C is not recommended. In conclusion, the Tosoh G8 analyser was found reliable and robust and, therefore, suitable for the measurement of HbA2 and HbF in human blood.</p>
Biochimica Clinica ; 37(1) 30-35
Contributi Scientifici - Scientific Papers
Screening e diagnosi del diabete gestazionale: definite le raccomandazioni
Final recommendations for screening and diagnosis of gestational diabetes
A. Lapolla  |  A. Mosca  | 
Biochimica Clinica ; 36(1) 12-14
Editoriale - Editorial
Aspetti biologici e clinici della malaria: progressi verso l'eradicazione della malattia
Biological and clinical aspects of malaria: toward global eradication
<p><strong>Biological and clinical aspects of malaria: toward global eradication.</strong> This overview covers several aspects of malaria, from basic information on the biology of the genus Plasmodium to the pathogenesis and diagnosis of the species infecting humans. Current treatment regimens and drug-resistance problems are also discussed. Particular attention is given to the various aspects of malaria epidemiology and to the cellular and immune mechanisms that may sustain the protection against malaria in subjects heterozygotes for various hemoglobin disorders. A short critical review of actual tools for the diagnosis and monitoring of malaria is also provided. Finally, a presentation of the Italian Malaria Network is outlined.</p>
Biochimica Clinica ; 35(6) 442-457
Determinazione della variabilità biologica dell'emoglobina A2
Determination of biological variation of hemoglobin A2.
R. Paleari  |  M. Montagnana  |  E. Danese  |  M. Tozzi  |  G.C. Guidi  |  A. Mosca  | 
<p><strong>Determination of biological variation of hemoglobin A2.</strong> We present an experimental report aimed to evaluate the biological variation of hemoglobin A2 (HbA2), a minor hemoglobin component in post-natal life, accounting for 2.5%-3.5% of the total hemoglobin in red cells, which is very relevant for the laboratory diagnosis of thalassemic syndromes. We took five blood specimens from 17 apparently healthy subjects (9 men and 8 women, ages 26-52 years) on the same day, every two weeks for two months. Samples were stored at -80 &#176;C until analysis and assayed in duplicate by Bio-Rad Variant II analyzer. Data were analyzed by the ANOVA. There were no differences in HbA2 values between men and women. HbA2 exhibited marked individuality: within- (CVI) and between-subject (CVG) biological variation were 0.7% and 7.7%, respectively. Desirable analytical goals derived from biological variation for imprecision (0.5 CVI), bias [0.25 (CVI2 + CVG2)1/2] and total error [1.65 (0.5 CVI) + 0.25 (CVI2 + CVG2)1/2]were 0.4%, 1.9%, and 3.1%, respectively. In conclusion, this is the first evidence that HbA2, as well as total hemoglobin, is under a strict homeostatic control. Our data also show that stringent analytical goals are needed for the clinical application of HbA2 measurements.</p>
Biochimica Clinica ; 35(6) 458-460
Il "Joint Committee for Traceability in Laboratory Medicine" (JCTLM): una cooperazione internazionale per promuovere la standardizzazione dei risultati in Medicina di Laboratorio
The Joint Committee for Traceability in Laboratory Medicine (JCTLM): a global cooperation to promote the standardisation of test results in Laboratory Medicine
Biochimica Clinica ; 35(5) 377
Le raccomandazioni per lo screening e la diagnosi del diabete gestazionale:semplificazione o confusione
Recommendations for screening and diagnosis of gestational diabetes: simplification or confusion?
A. Lapolla  |  A. Mosca  | 
Biochimica Clinica ; 35(3) 183
Considerazioni sull'implementazione a livello nazionale delle raccomandazioni per la standardizzazione della misura dell'emoglobina glicata
Some practical advices on how to implement the international standardization of glycated hemoglobin measurement in Ital
A. Mosca  | 
Biochimica Clinica ; 35(1) 36
Refertazione dell'emoglobina glicata in presenza di varianti emoglobiniche
Glycated hemoglobin reporting in presence of hemoglobin variants
M. Carta  |  A. Mosca  | 
Biochimica Clinica ; 35(1) 42