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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

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


Publisher
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
email: biochimica.clinica@sibioc.it

--------------------

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



BC: Articoli scritti da M. Montagnana

COVID-19 in pregnancy: underestimated risk
M. Montagnana  |  BM. Henry  |  G. Lippi  | 
<p>The almost relentless worldwide diffusion of severe acute respiratory syndrome coronavirus (SARS-CoV-2) is deeply engaging the minds of many scientists, clinicians and laboratory professionals, who struggle to identify the possible short- and long-term consequences of coronavirus disease 2019 (COVID-19) in the general population, as well as in specific cohorts of individuals, who may display peculiar features of infection. Pregnant women represent one of these categories, since the biological implications of SARS-CoV-2 infection extend far beyond those caused to the mother, involving also the fetus. Several lines of evidence now attest that although mother-to-child SARS-CoV-2 transmission is relatively rare (&lt;2% of all pregnancies), the consequences on maternal-fetal-neonatal interface of COVID-19 can be very serious. To this end, some important questions raise, such as &ldquo;is COVID-19 a risk factor for complications in pregnancy?&rdquo;, &ldquo;which laboratory tests are more predictable of unfavorable pregnancy outcomes?&rdquo;, &ldquo;how efficacious is COVID-19 vaccination in pregnancy?&rdquo; and, last but not least, &ldquo;what evidence supports laboratory monitoring of COVID-19 vaccination immunogenicity in pregnancy?&rdquo;. In this opinion paper, we will attempt to provide an overview of the current biological, clinical and laboratory evidence of SARS-CoV-2 infection in pregnancy, trying also to provide reliable answers to the aforementioned questions</p><p>&nbsp;</p>
Biochimica Clinica ; 46(3) S129-S131
Opinioni - Opinions
 
L’importante contributo dei Gruppi di Studio SIBioC nell’ambito del percorso di promozione del ruolo della Medicina di Laboratorio
Biochimica Clinica ; 45(3) 226-227
Editoriale - Editorial
 
Il ruolo del laboratorio clinico nella diagnosi precoce di preeclampsia
The role of the clinical laboratory in the early diagnosis of preeclampsia
M. Montagnana  |  A. Tagetti  |  C. Fava  | 
<p>Hypertensive pregnancy disorders include a large spectrum of conditions, including pre-existing chronic hypertension, gestational hypertension, preeclampsia (PE) and eclampsia. In particular, PE is one of the most important causes of maternal morbidity and mortality and perinatal death, preterm birth, and delayed intrauterine growth. The studies support a pathogenetic model of insufficient placentation which results in a vicious circle clinically dominated by an increase in blood pressure and proteinuria in the first phase, and by the involvement of the central nervous system up to convulsions in the more advanced stages. A crucial aspect of patient management is therefore represented by the identification of biological markers measurable in maternal blood (circulating) useful in the diagnosis, prognostic stratification and monitoring. In particular, in recent years many resources have been used to identify a biophysical and biochemical screening test aimed at identifying women at greater risk of PE, but none of these tools when used alone has demonstrated a significant predictive value. Few biomarkers are currently used in clinical practice. The analysis of the literature suggests that angiogenic and anti-angiogenic molecules, in particular the fms-like-tyrosine-kinase receptor 1 and placental growth factor (sFlt-1/PlGF) ratio, can be considered the biomarkers with the best diagnostic performance in the second trimester of pregnancy. However, doubts remain about their use in clinical practice before the 20th gestational week.</p>
Biochimica Clinica ; 45(1) 015-025
Rassegne -
 
Diagnosi del diabete gestazionale durante l’emergenza COVID-19: semplificazione del protocollo
Biochimica Clinica ; 44(4) 009-010
COVID-19 - COVID-19
 
Ruolo chiave del laboratorio nella diagnosi del diabete gestazionale: forse la prevalenza è sotto-stimata
Biochimica Clinica ; 44(2) 116
Editoriale - Editorial
 
Medicina di Laboratorio e Medicina d’Urgenza: il connubio continua
Laboratory medicine and emergency medicine: a perpetual relationship.
<p>The essential goals that laboratorymedicine shall pursue to adequately fulfill clinical needs can be summarized in delivering high quality information,availability of clinically usable tests and turnaround time. The governance of urgent laboratory testing encompassesa harmonious integration of clinical needs and laboratory organization. Clinical laboratories shall hence be morefocused on the pre-preanalytical phase, be involved in proactive efforts for standardizing pre-analytical and analyticalprocedures, optimize the post-analytical and post-post-analytical phases, thus providing a complete information andallowing the achievement of favorable outcomes. Throughout this ample and multifaceted process, the strictcooperation between laboratory professionals and emergency physicians is pivotal. As rationale follow-up of thecollective article published concomitantly with the first joint Academy of Emergency Medicine and Care (AcEMC) -Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) meeting, this new collective paperaims to summarize the topics discussed during the second joint event &ldquo;Laboratory Medicine and EmergencyMedicine: a resumed link&rdquo;, specifically including the governance of urgent tests, acid-base disorders, venousthromboembolism, acute heart failure, trauma, acute intoxications, viral diseases and other emerging infections.</p>
Biochimica Clinica ; 43(3) 296-304
Documenti - DOCUMENTS
 
Telomere shortening and PCDH10 promoter methylation in colorectal cancermucosae
<p>Background: telomerase activity and telomere length (TL) have important implications in several human diseases.Telomere shortening is associated with colorectal carcinogenesis. Recent studies also showed that protocadherin 10(PCDH10) plays a critical role in cancer cell growth, by negatively regulating telomerase activity. PCDH10isfrequently downregulated by promoter DNA methylation. The aim of this study was to investigate whether PCDH10promoter methylation was associated with TL in colorectal cancer (CRC).<br />Methods: DNA was extracted from 35 CRC and 35 adjacent normal tissues with Gentra Purgene Kit (Qiagen, Hilden,Germany). A quantitative methylation-specific PCR (MSP) based method was used to analyze a selected CpG site inPCDH10promoter. TL was evaluated with qPCR and expressed as telomere to single copy gene (T/S) ratio.Differences were assessed with Mann-Whitney test or Wilcoxon signed-ranks test when appropriate, whilstcorrelation analyses were performed with Spearman&rsquo;s test. Diagnostic performance was calculated with receiveroperating characteristics (ROC) curve analysis. The level of statistical significance was set at p &lt;0.05.<br />Results: we found that TL was significantly lower in CRC than in adjacent non-cancerous tissues (p=0.0005). Thearea under the ROC curve (AUC) for TL was 0.759 (95% Confidence Interval: 0.643-0.875, p=0.0002). AberrantPCDH10promoter methylation was detected in 100% of CRC tissues but in none of paired non-cancerous tissues.The median methylation rate in CRC tissues was 55.7% (range: 6.1-97.8%). TL was negatively correlated withPCDH10promoter methylation (r=-0.42, p=0.0002).<br />Conclusions: these results suggest a pivotal role of telomere shortening and PCDH10methylation in CRC tissues.TL may be seen as a potential biomarker in CRC diagnostics.</p>
Biochimica Clinica ; 43(3) 278-283
Contributi Scientifici - Scientific Papers
 
Medicina di laboratorio e Medicina d’urgenza: un connubio indissolubile
Laboratory Medicine and Emergency Medicine: an essential partnership
<p>Laboratory Medicine and Emergency Medicine: an essential partnership. A better understanding of the pathophysiological bases of many pathologies, along with the considerable technological advances occurred over last few years, have allowed to broaden number and complexity of in vitro diagnostic tests. The emergency department is the clinical setting with the highest risk of forensic disputes, and this explains the inclination that many emergency physicians have towards defensive medicine. Disproportionate request of laboratory tests, with poor awareness on the impact of inappropriateness, is one of the leading negative aftermath of this attitude. The predictable consequences are economic, but also encompass the risk of generating direct damage to the patients, especially in the presence of false positive test results. Since diagnostic appropriateness represents an essential element for patient safety and for sustainability of the National Healthcare System, the Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) and the Academy of Emergency Medicine and Care (AcEMC) have organized a joint meeting entitled &quot;Laboratory Medicine and Emergency Medicine: an essential partnership&quot;, of which this document is a summary. The issues that have been discussed represent major diagnostic dilemmas faced by emergency physicians, and for which the contribution of laboratory medicine may be decisive. These include acute systemic infections, acute abdominal pain, acute chest pain, head injury and acute bleeding. Since timely transmission of test results is an additional critical element for the clinical decision making in emergency settings, the document will also include considerations on sample transportation from the emergency room to the laboratory.</p>
Biochimica Clinica ; 42(4) 335-342
Documenti - Documents
 
Meccanismi epigenetici: l’esempio del Diabete Mellito tipo 1
Epigenetics in Type 1 Diabetes Mellitus
M. Montagnana  |  G. Lippi  |  E. Danese  | 
<p>Type 1 diabetes mellitus (T1DM) is a chronic autoimmune illness characterized by insufficient production of insulin by pancreatic beta cells. This condition occurs by environmental disruption (mostly supported by viral infections or nutritional components) of immune tolerance in genetically susceptible individuals. The lack of concordance in monozygotic twins for common diseases as T1DM has led to hypothesize that epigenetics may have a pivotal role in the pathogenesis of this condition, by modulating the relationship between the genotype and the phenotype. Epigenetics is commonly defined as the regulation of gene expression through chemical changes including DNA methylation or histone modulation of noncoding RNAs, without directly involving mutational changes in DNA. Epigenetics has recently contributed to amplify our understanding of the mechanisms underlying different pathological conditions for which causes other than genetic mutations and environmental factors are involved. Epigenetic modification in T1DM may hence mediate the environmental influence on expression of genes involved in the pathogenesis of disease. Therefore, this review is focused on describing the leading epigenetic mechanisms participating to the pathogenesis and progression of T1DM, and discussing the diagnostic or prognostic role of some potentially useful epigenetic biomarkers.</p>
Biochimica Clinica ; 42(2) 097-102
Rassegne - Reviews
 
Raccomandazioni per l’identificazione e la gestione dei risultati critici nei laboratori clinici
Recommendations for the detection and management of critical results in clinical laboratories
<p>Critical results, (also known as panic or alarm results) identify a laboratory test result associated with a serious risk for the patient&rsquo;s health, requiring immediate communication to the physician to establish appropriate therapeutic interventions. The adoption of an efficient procedure for the communication of critical values/results is crucial for clinical, ethical, organizational reasons, because it is a requirement for laboratory accreditiation and because of potential legal consequences related to the lack of notification of harmful laboratory results. In 2008, the Italian Society of Clinical Biochemistry and Laboratory Medicine (SIBioC) published its first consensus-based recommendation for the detection and management of critical values in clinical laboratories, with the aim to improve the implementation of standardized and universally accepted procedures, promoting an essential policy toward rational and efficient solutions to this issue. These new recommendations represent a complete review of the first document. Using the same consensus conference method between experts of scientific societies, the main aspects of clinical risk, patient safety and legal liability of health care workers were re-considered. The SIBioC and the Italian Society of Laboratory Medicine (SIPMeL), Intersociety Study Group on Standardization of extra-analytical variability of laboratory results, together with the Italian Society of Ergonomics and Human Factors (SIE) collaboration, issued the present join document.</p>
Biochimica Clinica ; 42(2) 167-179
Documenti SIBioC - SIBioC Documents
 
Documento di consenso SIBioC-Medicina di Laboratorio e Academy of Emergency Medicine and Care (AcEMC) sull’utilizzo in Pronto Soccorso dei biomarcatori per la diagnosi di sepsi batterica
Biomarkers for diagnosing sepsis in the emergency department: a consensus document by SIBioCMedicina di Laboratorio and the Academy of Emergency Medicine and Care
<p>This article is drafted as a consensus document involving eight members of the Italian Society of Clinical Biochemistry and Laboratory Medicine (SIBioC) and eight members of the Academy of Emergency Medicine and Care (AcEMC), to whom a questionnaire was submitted for obtaining opinions on some recommendations about the use of biomarkers for diagnosing sepsis and managing antibiotic therapy in the emergency department. These recommendations were drafted following the National Guidelines Program (PNLG). According to the cumulative consent, three &quot;A&quot; recommendations (strongly recommended indication) emerged, which include biomarker availability (always available on prescription), clinical use (always interpreted in according to clinical data) and timing of the request based on half-life of the analyte. Recommendations of type &quot;B&quot; (indications carefully considered) included a general agreement about the clinical usefulness of sepsis biomarkers, the combination of procalcitonin (PCT) and Creactive protein (CRP), the possibility to be free on prescription to the laboratory, the use of cut-offs favoring a high negative predictive value, the use of more analytically sensitive assays and the possibility of using PCT for monitoring antibiotic therapy, with timing of ordering defined according to the metabolism of the analyte. As regards the specific biomarkers, a similar &ldquo;B&rdquo; consensus has been reached for measuring both PCT and CRP, and for measuring lactic acid. The measurement of other biomarkers is discouraged except for presepsin, for which there is still substantial uncertainty in favor or against.</p>
Biochimica Clinica ; 42(1) 62-73
Documenti SIBioC - SIBioC Documents
 
miR-199a and miR-125b expression levels in serum of women affected by epithelial ovarian cancer
<p>Recent studies show that microRNA (miRNAs) are involved in cancer by regulating cell proliferation, apoptosis and angiogenesis. Accordingly, their deregulation could contribute to cancer development and progression. It has been demonstrated that in ovarian tissue the over-expression of miR-199a and miR-125b inhibits tumor angiogenesis, a fundamental process for cancer development and growth. Aims of our study were to investigate the expression levels of miR-199a and miR-125b in serum of patients with ovarian cancer (OC) and to evaluate the correlation between miRNAs expression and traditional biomarkers [CA125 and human epididymis protein 4 (HE4)]. 32 patients with epithelial OC (54&plusmn;14 years old) and 31 healthy controls (55&plusmn;17 years old) were enrolled. Serum samples were collected prior to definitive surgical treatment and RNA extraction was performed by using the miRNeasy Serum/Plasma kit (Qiagen GmbH). miR-199a and miR-125b expression was determined by quantitative real timepolymerase chain reaction (TaqMan MicroRNA Assay, Applied Biosystems). The expression levels of miRNAs were normalized to miR-16 and calculated utilizing the 2-&Delta;Ct method. Serum levels of miR-199a and miR-125b were significantly higher in OC patients compared to controls (P=0.007 and P=0.002, respectively). A marginally statistically significant correlation was found between miR-199a and miR-125b expression levels (r=0.38, P=0.03). The ROC curve analysis of the diagnostic performance between healthy controls and OC patients revealed that HE4 had a significantly higher area under the curve (AUC=0.90) when compared to CA125 (AUC=0.85), miR-199a (AUC=0.70) and miR-125b (AUC=0.67). Anyway, the determination of circulating miRNAs may be relevant, since their expression is known to be aberrant in cancer, having potential ability to monitor tumor dynamics.</p>
Biochimica Clinica ; 40(4) 328-333
Contributi scientifici - Scientific Papers
 
Verifica locale dei sistemi di prelievo nei laboratori clinici: adattamento delle linee guida EFLM
Blood collection systems in clinical laboratories: local adaptation of the EFLM guidelines
<p>The importance of the process of purchasing or changing blood collection devices is often overlooked. This is likely attributable to many factors such as the limited knowledge that policymakers, healthcare administrators and also laboratory managers have on the significance of preanalytical quality, but also to the lack of validated criteria for analyzing the quality of blood collection devices. Since a gap remains to be filled between companies&rsquo; and laboratory&rsquo;s validation, the EFLM Working Group on Preanalytical Phase (WG-PRE) has published a comprehensive document, which contains essential prerequisites and technical issues (e.g., physical imperfections, defects of functioning, safety deficiencies) to support local clinical laboratories for the development of tenders for blood tubes and for the validation of new materials ahead of local routine use. This consensus document is a national adaptation of these guidelines.</p>
Biochimica Clinica ; 40(4) 347-352
Documenti SIBioC - SIBioC Documents
 
Intervalli di riferimento dell’esame emocromocitometrico nel sangue di cordone ombelicale
Reference intervals for cell counts of umbilical cord blood
F. Dima  |  M. Montagnana  |  R. Raffaelli  |  S. Cascella  |  C. Bovo  |  M. Franchi  |  G. Lippi  | 
<p>The umbilical cord blood is useful for assessing the&nbsp;health status in newborns. A limited number of studies evaluated the reference values of peripheral blood cell count&nbsp;and little information is available on the number of stem cells in umbilical cord blood. This study aimed to define&nbsp;reference intervals for hematological parameters in umbilical cord blood. 257 umbilical cord blood samples were&nbsp;obtained from apparently healthy infants with gestational age &gt;37 weeks, uncomplicated pregnancy, birth weight&nbsp;&gt;2500 g and umbilical arterial pH &gt;7.0. The analysis was performed within 3 h from collection using the hematology&nbsp;analyzer Sysmex XN-1000. Reference values were derived with a non-parametric approach, by following the CLSI&nbsp;document EP28&ndash;A3c. A statistically significant difference between genders was observed for erythrocytes,&nbsp;hemoglobin, hematocrit and red blood cell distribution width, these parameters being significantly higher in males&nbsp;than in females. Results from this study may be seen as a useful guide for neonatologists to evaluate the newborn&nbsp;status and for hematologists to evaluate the quality of collected blood.</p>
Biochimica Clinica ; 40(3) 204-207
Contributi scientifici - Scientific Papers
 
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  |  E. Franceschini  |  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
 
Proposta di una “checklist” per il prelievo di sangue venoso
Proposal of a checklist for venous blood collection
<p>The collection of venous blood is central in clinical laboratory&nbsp;activity. Although there is widespread perception that this practice is simple and free of complications and side effects,&nbsp;it is undeniable that the vast majority of laboratory errors arises from ignorance, incompetence or negligence during&nbsp;venipuncture. It has hence become advisable to prepare a document in simplified form of checklist, consisting of a&nbsp;concise but comprehensive list of activities to be completed or verified in order to prevent errors during venous blood&nbsp;collection. In the intention of authors, this synthetic checklist is a modular tool, adaptable to different local contexts,&nbsp;it can be easily and gradually implemented, it is supported by scientific evidence and consensus of experts and&nbsp;created with the support of different healthcare professionals and it is adherent to the best practices and requires&nbsp;minimal resources for implementation. It is reasonable to assume that this checklist may be able to withstand system&nbsp;and individual changes, strengthening the standards for safety of both operators and patients, limiting potential failure&nbsp;patterns. We hope that the checklist may be implemented in all healthcare facilities where routine venous blood&nbsp;collection is performed, after adaptation to suit characteristics of local organization.</p>
Biochimica Clinica ; 37(4) 312-317
Documenti SIBioC - SIBioC Documents
 
Troponin elevation reflects myocardial injury in carbon monoxide poisoning
<p>We describe the case of a 48-year-old white man, who was admitted to the emergency department with neurologic&nbsp;deficits and high suspicion of carbon monoxide (CO) poisoning. Blood carboxyhemoglobin (COHb) level was found&nbsp;substantially increased (i.e., 18%). Clinical symptoms of myocardial infarction were lacking and the medical history&nbsp;was negative for major risk factors of coronary heart disease. However, electrocardiogram and troponin value were&nbsp;both suggestive for an acute coronary syndrome (i.e., a highly-sensitive troponin T value of 0.12 &mu;g/L), while the&nbsp;echocardiogram showed hypokinesia of left ventricular apical lateral wall. The coronary angiogram performed one&nbsp;week after admission did not reveal the presence of coronary obstructions. It is hence assumed that high levels of&nbsp;COHb in blood, such as after CO exposure, may trigger myocardial injury by severe generalized tissue hypoxia (i.e.,&nbsp;impaired oxygen delivery) and a direct toxic effect on myocardium. Contributing factors that also decrease myocardial&nbsp;oxygenation include inadequate myocardial perfusion and prothrombotic state. This case report suggests that&nbsp;increased troponin values, especially when measured with highly-sensitive immunoassays, may be observed in&nbsp;patients with CO poisoning, and mirror the presence of myocardial injury. Therefore, although the measurement of&nbsp;cardiac biomarkers may be advisable in the presence of CO toxicity to identify cardiac involvement, caution should&nbsp;be used when troubleshooting the underlying source of troponin elevations in order to preven t overdiagnosis or&nbsp;misdiagnosis of acute coronary syndrome.</p>
Biochimica Clinica ; 37(3) 246-249
Casi Clinici - Case Report
 
Nuovi approcci diagnostici al ritardo mentale
New diagnostic approaches to mental retardation
<p>Genomic imbalances are considered the most frequent causes of mental retardation (MR). Although widespread screening with novel molecular karyotyping methods, such as multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (Array-CGH) might be desirable, effective clinical preselection is essential because of the technical complexities and cost of testing. This study focuses on a retrospective analysis of clinical features in patients with MR of unknown etiology,thereby assessing the sensitivity of a six item checklist in identifying rearranged subjects. The diagnostic powers of single techniques were also evaluated. We studied 164 subjects with MR who had completed the follow diagnostic process: karyotype and eventually fluorescence in situ hybridization (FISH) in case of suspected microdeletion syndrome, specific analysis in case of suspected X-linked or monogenic disease, MLPA for subtelomeric rearrangements in patients negative to previous tests, Array-CGH in patients negative to MLPA. A six items checklist based on relevant clinical signs was retrospectively applied. 5 patients were carrier of chromosomal abnormalities (3 detected by karyotype and 2 by FISH), 3 were affected by X-fragile syndrome, 6 had mutations, and 33 were carriers of genomic imbalances (9 detected by MLPA and 24 by Array-CGH), while 117 resulted negative to any tests. In patients with genomic imbalances and in subjects without rearrangements the median score of the checklist was 6 (range 3-9) and 4 (range 0-8), respectively (P &lt;0,0001). The ROC analysis for the diagnostic accuracy of our checklist showed an area under the curve of 0.74 (95% confidence interval: 0.65-0.83). Using a cut-off for the score of U3, 24% of patients could have been excluded without missing any genomic imbalances. This study supports the evidence that the application of a clinical checklist may improve the rate of pathological findings in patients with MR.</p>
Biochimica Clinica ; 36(3) 187-192
Contributi Scientifici - Scientific Papers
 
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
CONTRIBUTI SCIENTIFICI - CONTRIBUTI SCIENTIFICI
 
Raccomandazioni di consenso SIBioC-SIMeL per la rilevazione e gestione dei campioni emolisati e utilizzo dell'indice di emolisi
SIBioC-SIMeL consensus recommendations for the identification and management of hemolysed specimens and the implementation of hemolysis index
<p><strong>SIBioC-SIMeL consensus recommendations for the identification and management of hemolysed specimens</strong><br /><strong>and the implementation of hemolysis index.</strong> The presence of hemolysis in a biological blood sample is mainly<br />caused by hemolytic anemia or hemolysis in vitro. The latter is caused by inappropriate collection and processing of biological samples, which may affect the reliability of test results. Hemolysis is assessed by free hemoglobin quantification, whose limit is 0.02 g/L in plasma and 0.05 g/L in serum, and visually observed when the concentration of free hemoglobin exceeds 0.30 g/L. Since hemolysis is the most frequent cause of unsuitable biological samples in clinical laboratories, with a prevalence approaching 3% of all received samples, these recommendations have been drafted specifically to assist laboratory professionals in detection and management of hemolysed specimens. In summary, the recommended approach is based on: (i) systematic detection and quantification of hemolysis, by visual inspection and subsequent quantification of the hemolysis index on all samples with visually detectable hemolysis; (ii) immediate notification to the referring department of the presence of hemolysis in the sample, as locally determined; (iii) suppression of all results affected by the presence and/or degree of hemolysis; and (iv) timely request of a second sample, on which the previously deleted tests can be performed.</p>
Biochimica Clinica ; 35(6) 481-490
DOCUMENTI SIBioC - DOCUMENTI SIBioC
 
Valutazione del "risk of ovarian malignancy algorithm" (ROMA) nella stima del rischio di tumore epiteliale maligno dell'ovaio in donne con massa pelvica
The "risk of ovarian malignancy algorithm" for estimating the risk of epithelial ovarian cancer in women presenting with pelvic mass.
Biochimica Clinica ; 35(1) 30
CONTRIBUTI SCIENTIFICI - CONTRIBUTI SCIENTIFICI