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Articoli in pubblicazione

La diagnostica di laboratorio nella sindrome da apparente eccesso di mineralcorticoidi
The laboratory diagnosis of apparent mineralocorticoid excess (AME)

The apparent mineralocorticoid excess(AME) is a rare genetic disorder caused by impaired activity of the enzyme 11β-hydroxysteroid dehydrogenase type2 (11βHSD2). This abnormality is associated with cortisol excess and abnormal activation of mineralocorticoidreceptor, which is usually only activated by aldosterone. More than 50 known mutations have been associated withAME; whilst some epigenetic modifications may also be involved. AME causes severe hypertension and is hencetraditionally diagnosed during the first years of life. Deficit of 11βHSD2 also occur in other physiopathologicalconditions like pre-eclampsia, sodium-sensitive hypertension and kidney or hepatic impairment. The biochemicaldiagnosis is conventionally made by quantifying tetrahydroxylated metabolites of cortisol (THF and allo-THF) andcortisone (THE) expressed as THF+allo-THF/THE ratio and using home-made Gas Chromatography-MassSpectrometry methods. Nevertheless, some recent studies showed more accurate characterization of 11βHSD2deficit by measuring the urinary free cortisol/cortisone ratio with Liquid Chromatography-Tandem Mass Spectrometry.A final consensus on the preferred method to diagnose AME has not been reached so far, and more studies areneeded for better defining sensitivity and specificity of these tests in some different physiopathological conditionsassociated with 11βHSD2 impairment.

TAG: Cortisone   pre-eclampsia   mutazione genetica  
Biochimica Clinica
DOI: 10.19186/BC_2019.050
Pubblicato online il: 04.07.2019
Rassegne - Reviews
La spettrometria di massa nella diagnosi e nel monitoraggio delle gammopatie monoclonali
Mass spectrometry in diagnosis and monitoring of monoclonal gammopathies

The identification ofmonoclonal components requires the use of protein electrophoresis, immunofixation electrophoresis of serum andurine and serum free light chain measurement. The combination of these three tests grants the highest diagnosticperformance in different clinical settings. In clinical practice, the monoclonal protein (M-protein) is detected in apatients’ serum or urine by the appearance of a distinct protein band migrating within regions typically occupied byimmunoglobulins. Immunofixation or immunotyping then provides evidence that the identified protein band is anintact immunoglobulin or an immunoglobulin light chain. Taking into consideration that each M-protein is composedby a sequence of amino acids pre-defined by somatic recombination unique to each clonal plasma cell, the molecularmass of the M-protein can act as a surrogate marker of the protein composition. The Mayo Clinic researchersestablished mass spectrometry-based methods to assign molecular mass to the monoclonal immunoglobulin lightchain and used this to detect the presence of M-proteins. The first method proposed is based on the enrichment ofserum for immunoglobulins, followed by reduction to separate light chains from heavy chains, followed by microflowLC-ESI-Q-TOF mass spectrometry. The second method is based on the enrichment of nanobodies and thesubsequent analysis on a matrix-assisted laser desorption mass spectrometer (MALDI). Both methods demonstrateda comparable diagnostic sensitivity to the standard procedures and could be considered as a possible futuresubstitution of immunofixation.

TAG: Mieloma multiplo   catene leggere   elettroforesi  
Biochimica Clinica
DOI: 10.19186/BC_2019.043
Pubblicato online il: 04.07.2019
Rassegne - Reviews
Valutazione delle prestazioni analitiche dei conteggi cellulari in automazione su liquidi biologici mediante un programma di controllo di qualità dedicato
Evaluation of the analytical performances of the cell counting on biological fluids using a dedicated program of quality control

Introduction: the development of new technologies in the era of information technology and digitization has certainlyinfluenced the clinical laboratory and quality management system. The aim of this work is to verify the utility of adedicated software (SNCS - Sysmex, Inc. Kobe, Japan) for the improvement of quality control managementprocedures of quantitative parameters obtained by the automated cell counting in biological liquids.
Methods: the measurements were performed on the XN "Body Fluid Mode" (XN-BF) analytical system (Sysmex, Inc.Kobe, Japan) according to the manufacturer's specifications. The parameters that can be included in the report usingthis mode are the total nucleated elements count, the leukocyte count, the differentiation of mononuclear frompolymorphonuclear cells and the erythrocyte count.
Results: our study included: a comparative evaluation between the laboratory CVs and the CV of an internationalhomogeneous group; a retroactive evaluation from the SNCS software using the standard deviation index and theprecision index used as accuracy and precision measurements. Finally, a daily comparison was made between theLevi-Jennings cards of the instrument and the SNCS intra-day report, to improve the timely evaluation of the randomerror.
Conclusion: using the SNCS software, the performance of the analyzers can be precisely monitored and comparedon an internaional basis. Its utility lies in the possibility of comparing internal performances with those of a group oflaboratories using the same instruments and the same controls, allowing the quantification of the analytical bias.

TAG: Conta dei leucociti   differenziazione cellulare   eritrociti  
Biochimica Clinica
DOI: 10.19186/BC_2019.042
Pubblicato online il: 08.07.2019
Contributi Scientifici - Scientific Papers
Attività fisica e biomarcatori dello stress ossidativo nell’invecchiamento
Physical exercise and oxidative stress biomarkers in the elderly

Introduction: aging is regulated by a number of aging genes including sirtuins, linked to redox status andepigenetically controlled. Physical exercise, depending on intensity, type of training and duration, seems to modulatepositively the redox state in aging. It was demonstrated an increase in susceptibility to oxidative stress by thedepletion of intracellular glutathione (GSH) and total glutathione (tGSH) levels in the muscles of aged animals.Moreover, physical activity, especially if moderate and regular, seems to activate adaptive mechanisms, reducingbody's vulnerability to oxidative stress and improving systemic metabolic activities.
Methods: this study is aimed to evaluate the effects of regular exercise (3 times/week for 2 months) on the levels ofradical species (d-ROM test), thiol groups (SHp test), plasma antioxidant capacity (BAPtest), 8-OH-guanosine(COMET test) and some redox-related proteins (HSP27, HSP70, Sirt1 and 2) in 40 healthy elderly subjects, agedfrom 65 to 74 years. In addition, plasma enzymatic activities of superoxide dismutase (SOD), glutathione peroxidase(GPx) and glutathione reductase (GR) were evaluated.
Results: the enrolled subjects showed oxidative stress before exercise with the presence of radical species, oxidationof purine bases and reduced antioxidant capacity. After the scheduled training, a global improvement of oxidativestress markers was observed with an upregulation of HSP27, HSP70, Sirt1 and Sirt2 expression, as adaptiveresponse.
Conclusion: our results underline the importance of these biochemical parameters to monitor oxidative stress in agingand the adaptive redox response to physical exercise in elderly.Therefore, these biomarkers may be routinely usedin order to identify individuals at risk for developing oxidative stress related pathologies as well as in personalizedphysical therapy.

TAG: Sirtuine   glutatione   superossido dismutasi  
Biochimica Clinica
DOI: 10.19186/BC_2019.044
Pubblicato online il: 08.07.2019
Contributi Scientifici - Scientific Papers
Comparative study of galectin-3, brain natriuretic peptide, cystantine C and high sensitivity troponin determinations in the diagnosis of heart failure in elderly italian males

Introduction: heart failure (HF) has been defined a modern pandemic. The complex array of physiologic,psychological, social and health care issues makes it a challenging chronic disease to diagnose and manage. Ourstudy is aimed to evaluate a multi-markers approach in diagnosis of HF in aged males.
Methods: 68 Italian males aged >65 years have been enrolled; 25 were patients with heart failure (HF) and 43 werehealthy controls. In all the subjects, measurements of high sensitivity troponin I (TNI), galectin-3 (GAL), cystatin C(CYS) and brain natriuretic peptide (BNP) were performed using routine methods.
Results: in patients with HF, mean concentrations of TNI, GAL, CYS and BNP were significantly higher (p<0.001) thanvalues observed in controls subjects. Only BNP and GAL showed a correlation with NHYA stage of HF. In this study,GAL and BNP demonstrated better diagnostic perfomamces to differentiate of HF patients from controls subjects.
Conclusions: our study showed the usefulness of a strategy involving multiple biomarkers determination in laboratorydiagnosis of HF in elderly males.

TAG: Biomarkers   Heart failure   Elderly  
Biochimica Clinica
DOI: 10.19186/BC_2019.040
Pubblicato online il: 04.07.2019
Contributi Scientifici - Scientific Papers
Evaluation of a multiplex immunochromatographic assay for the rapid detection of carbapenemase-producing Enterobacteriaceaefrom culture colonies

Introduction: the increasing worldwide spread of multidrug resistant bacteria, in particular of carbapenemase-producing Enterobacteriaceae(CPE), represents a serious clinical and public health concern. An accurate and fastdetection of infected patients or colonized carriers is thus mandatory.
Aim of this study was to assess the performance of a multiplex immunochromatographic assay (NG-Test CARBA 5,NG Biotech, Guipry, France) for the rapid detection of carbapenemases directly from pure bacterial colonies.
Methods: seventy-five non-replicated Enterobacteralesisolates with decreased susceptibility to carbapenems,including 71 Klebsiella pneumoniae, 3Escherichia coli and1Enterobacter cloacae, were analysed with NG-TestCARBA 5. At the same time the combination disk test (CDT) was performed according to the European Committeeon Antimicrobial Susceptibility Testing (EUCAST) indications, while confirmation of carbapenemase production wasachieved by polymerase chain reaction (PCR).
Results: PCR assay could find 66 CPE strains, including 64 Klebsiella pneumoniae[53 producing Klebsiellapneumoniaecarbapenemase (KPC), 5 New Delhi metallo-β-lactamase (NDM), 2 class D oxacillinases (OXA-48), 1Verona integron-encoded metallo-β-lactamase (VIM) and 3 co-producing NDM and OXA-48] and 2 Escherichia coli(2 NDM+OXA-48) while 9 isolates were found as non-carbapenemase producing: 7 Klebsiella pneumoniae, 1Escherichia coli, 1Enterobacter cloacae. CDT allowed us to consider those 9 strains as extended spectrum β-lactamase (ESBL) or AmpC β-lactamase producers. NG-Test CARBA 5 successfully identified 66/66 CPE showing100% sensitivity and 100% specificity. Unlike NG-Test CARBA 5, CDT was not able to correctly identify 5 strains co-producing NDM and OXA-48 carbapenemases.
Conclusion: NG-Test CARBA 5 is a reliable assay that can be useful in settings requiring a rapid identification of CPEdirectly from culture colonies. Moreover, this test is an easy-to-use option that could avoid misidentification ofcarbapenemases co-producers strains.

TAG: carbapenemase   Escherichia coli   β-lactamase  
Biochimica Clinica
DOI: 10.19186/BC_2019.033
Pubblicato online il: 04.07.2019
Contributi Scientifici - Scientific Papers
Variabilità biologica dei parametri dell’esame emocromocitometrico in soggetti sani
Biological variation estimates of complete blood count parameters in healthy subjects

Background: the complete blood count (CBC) is the test more frequently requested in clinical practice. Therefore,estimating the biological variation (BV) of CBC parameters is essential for assessing the analytical performance ofhematological analyzers and for enabling accurate data interpretation and appropriate clinical management. Thisstudy was aimed to define BV estimates and reference change value (RCV) of CBC parameters.
Methods: the study population consisted of 21 healthy volunteers, who had BV of CBC parameters assessed withSysmex XN. The study protocol, the analytical measurements and the statistical analysis were carried out accordingto current recommendations of the European Federation for Clinical Chemistry and Laboratory Medicine (EFLM).
Results: Within-subject BV ranged between 0,3% for mean cell hemoglobin (MCH) and 19,7% for immaturegranulocytes (IG), whilst between-subjects BVs ranged between 0,9% for mean corpuscolar haemoglobinconcentration (MCHC) and 66,6% for microcytic red blood cells (Micro-R). The RCV ranged between 2,3% for MCHand 73,5% for IG.
Conclusion: This study has allowed the estimation of BV of many CBC parameters, some of which have not beencurrently explored, thus leading the way to use RCV calculated according to time of monitoring and/or differentiatedby sex.

TAG: Valori di riferimento   indici eritrocitari   variabilità biologica  
Biochimica Clinica
DOI: 10.19186/BC_2019.031
Pubblicato online il: 10.06.2019
Contributi Scientifici - Scientific Papers
Galectin-3 and Lp(a) plasma concentrations and advanced carotid atherosclerotic plaques: correlation with plaque presence and features

Introduction: atherosclerosis is one of the leading causes of death and morbidity worldwide. It consists in thedevelopment of plaques in the intima media layers of arteries due to lipid accumulation and oxidation, causingmassive inflammation. We aim to better understand the role of Galectin-3 (Gal-3) and Lipoprotein(a) [Lp(a)] aspossible peripheral markers of plaque presence.
Methods: Gal-3 and Lp(a) were measured in plasma samples from 99 patients undergoing carotid endarterectomyand 78 healthy controls, by immunometric assays. Plaques were classified histologically, according to the AmericanHeart Association (AHA) guidelines as type Va (fibroatheroma), Vb (mainly calcific) and Vl (complicated lesion).
Results: Gal-3 and Lp(a) plasma levels are higher in patients compared to controls [19.8 ng/mL (SD 5.8) vs 14.0ng/mL (3.6)], p<0.0001 and 8.4 mg/dL (IQR 4.0-25.1) vs 4.7 mg/dL (2.4-12.7), p=0.0003, respectively). Analysis ofROC curves confirmed the discriminating power of these markers obtaining an area under the curve of 0.806(p<0.0001) for Gal-3 and 0.657 (p=0.0001) for Lp(a). At multivariate logistic regression, Gal-3 and Lp(a) plasma levelswere associated with plaque presence independently of each other as well as of age, sex, LDL-C levels and previousmyocardial infarction with an odds ratio of 1.22 (95%CI 1.08-1.38, p=0.002) and 1.05 (1.00-1.09, p=0.048)respectively. No differences of Gal-3 and Lp(a) plasma levels were observed among the plaque types.
Conclusion: our data showed that Gal-3 and Lp(a) are reliable markers of advanced atherosclerotic plaques. Theabsence of differences among the different lesion types suggests that the increase of Gal-3 and Lp(a) is independentof the specific plaque features.

TAG: Galectin-3   Lipoprotein(a)   atherosclerosis  
Biochimica Clinica
DOI: 10.19186/BC_2019.025
Pubblicato online il: 10.06.2019
Contributi Scientifici - Scientific Papers
Procalcitonin levels in Sjögren syndrome

Background: procalcitonin (PCT) is a polypeptide secreted as a response a bacterial stimulus. PCT serumconcentrations are increased also in some autoimmune diseases. At the best of our knowledge, there is no study inliterature that evaluated PCT values in patients with primary Sjögren’s syndrome (pSS). The aim of this paper is tomeasure PCT values in pSS and to determine if these are related to the disease activity.
Methods: this is a case-control study. Two groups of subjects were included: 48 patients with pSS, who met AmericanCollege of Rheumatology 2012 Classification Criteria for Sjögren's syndrome and 53 healthy subjects as controlgroup (without any acute or chronic disease). The subjects with possible infectious disease were excluded on thebasis of their clinical evaluation and laboratory data. Serum PCT values were measured by electrochemiluminometricmethod. PCT values have been compared between the groups; the correlation between disease activity, measuredby Sjögren’s syndrome disease activity index (SSDAI) and PCT levels was evaluated.
Results: PCT values in pSS group were within the reference range, but significantly higher than those measured inthe control group [median (interquartile range) values were 0.036 ng/mL (0.031-0.044) and 0.020 ng/mL (0.020-0.020) respectively], (p<0.001). No correlation was found between disease activity and PCT values (p=0.63).
Conclusions: on the basis of the presented results, PCT could be a candidate marker for differentiating diseaseactivity from the presence of an infection in pSS patients. Future studies in pSS patients with infectious diseasescould possibly demonstrate the role of PCT in this context.

TAG: Procalcitonin   Sjögren’s syndrome   disease activity  
Biochimica Clinica
DOI: DOI: 10.19186/BC_2019.020
Pubblicato online il: 16.04.2019
Contributi Scientifici - Scientific Papers
Telomere shortening and PCDH10 promoter methylation in colorectal cancermucosae

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).
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’s test. Diagnostic performance was calculated with receiveroperating characteristics (ROC) curve analysis. The level of statistical significance was set at p <0.05.
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).
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.

TAG: telomere length   colorectal cancer   promoter methylation  
Biochimica Clinica
DOI: DOI: 10.19186/BC_2019.019
Pubblicato online il: 16.04.2019
Contributi Scientifici - Scientific Papers
L’interferenza dell’emolisi sulla misura dell’insulina
Analytical interference of hemolysis on serum insulin measurement

Insulin is a polypeptide hormone, secretedfrom pancreatic β-cell, involved in the regulation of glucose and lipid metabolism. Insulin measurement is a useful toolto identify some clinical conditions, such as fasting hypoglycemia, some types of diabetes, the presence of insulinresistance. An important pre-analytical aspect that influences the determination of insulin serum concentration is thepresence of hemolysis. In fact, it is well known that insulin is degraded by a protease released by red blood cells afterhemolysis. The aim of this study is to evaluate the interference of hemolysis on insulin measurements performed bya chemiluminescence method. To study the effect of hemolysis on insulin degradation, we added increasingconcentrations of red blood cell hemolysate to a serum pool with known insulin concentration. The reduction of insulinlevels was affected by the degree of hemolysis, by the time elapsed before the assay and by the temperature ofsamples storage. Our results show that insulin values do not decrease significantly (<10%) when hemolysis is <2.0g/L of free hemoglobin (corresponding to H-index=200) if samples are maintained at low temperatures (i.e. in an ice-water slurry) until the assay is performed.

TAG: diabete mellito   ipoglicemia   insulina resistenza  
Biochimica Clinica
DOI: 10.19186/BC_2019.014
Pubblicato online il: 12.04.2019
Contributi Scientifici - Scientific Papers
Patologie cardiovascolari e troponine cardiache: la storia di un legame indissolubile
Cardiovascular diseases and cardiac troponins: the history of a lasting connection

The evolution of thebiochemical diagnosis of cardiac diseases, represents a paradigm of the laboratory medicine evolution in the recent years.
Starting from the use of poor specific and sensitive biomarkers, the “so-called” cardiac enzymes (aspartateaminotransferase; lactate dehydrogenase; creatine kinase) recommended by World Health Organization for the acutemyocardial infarction (AMI) diagnosis, a fundamental development in biochemical knowledge has been obtained,providing new biomarkers (CK-MB, myoglobin) for a more specific and early diagnosis according to the clinical andtherapeutic needs. However, the revolutionary biochemical issue has been represented by the discovery of cardiactroponins and by the implementation of methods allowing their measurement in emergency setting in patients withacute chest pain. Cardiac troponins, are characterized by an absolute cardiac specificity and by a high sensitivity thatallow to carry out a timely and safe diagnosis of AMI, being recognized as “gold standard” in all clinical andbiochemical guidelines. In patients with acute chest pain and in ischemic clinical setting, a typical kinetic release ofbiomarker concentration may be suggestive of AMI even if ECG typical patterns are lacking. The actual improvementin analytical performance of troponins methods, particularly in the analytical sensitivity, allows to extend themeasurement also in diagnosis of minor myocardial damage in patients suffering from different cardiac disease, tomonitor the efficacy of therapy, the progression of the disease and to provide prognostic information and risk-stratification in addition to the clinical pathway.

TAG: Infarto acuto del miocardio   mioglobina   biomarcatori  
Biochimica Clinica
DOI: 10.19186/BC_2019.021
Pubblicato online il: 10.06.2019
Opinioni - Opinions
La Medicina di Laboratorio: gli specialisti di domani
Laboratory Medicine: specialists of tomorrow

Laboratory Medicine rides the wave of technological progress, themetamorphosis of information systems and data management. The Young Specialist is not a mere observer, butrather takes a leading role in this change, taking advantage of the opportunities offered by “omics” technologies,capturing new ideas and innovative stimuli that lead to a new concept of work and research oriented to health andprevention. Thanks to the support of international web platforms, training and exchange programs supported by theInternational Scientific Societies and Federations that favor professional and scientific growth, Young Scientists workin a global context. In this scenario, the SIBioC Young Scientists Study Group, with the auspices of SIBioC, EFLMand IFCC, organized a meeting on "Laboratory Medicine: Specialists of tomorrow" with the aim of discussing andhighlighting some of the most important challenges, such as technological progress, training and internationalizationof young people. Finally, the future of laboratory medicine looks at a multidisciplinary approach that leads tointegrated diagnosis, identification of the frail patient, the use of the Point of Care Testing as an indispensable tool incrisis areas, making the dialogue between physician and laboratory specialist a fundamental step for the diagnosisand treatment with the final aim of a better outcome for the patient.

TAG: Società scientifiche   studi interdisciplinari   ricerca scientifica  
Biochimica Clinica
DOI: 10.19186/BC_2019.039
Pubblicato online il: 04.07.2019
Documenti - Documents
Medicina di Laboratorio e Medicina d’Urgenza: il connubio continua
Laboratory medicine and emergency medicine: a perpetual relationship.

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 “Laboratory Medicine and EmergencyMedicine: a resumed link”, specifically including the governance of urgent tests, acid-base disorders, venousthromboembolism, acute heart failure, trauma, acute intoxications, viral diseases and other emerging infections.

TAG: medicina di laboratorio   medicina d’urgenza   analisi  
Biochimica Clinica
DOI: 10.19186/BC_2019.017
Documenti - DOCUMENTS
La variabilità preanalitica in coagulazione
Pre-analytical issues in coagulation testing

Poor standardization of preanalytic variables influences greatly thereliability of coagulation testing, consuming health care resources and compromising patient outcomes. Thesevariables include patient preparation, sample collection, handling, transportation, processing, and storage until timeof analysis: lack of standardized procedures for sample collection accounts for most of the errors encountered withinthe total testing process. Most pre-analytical problems may arise from system faults and insufficient audit of theoperators involved in specimen collection and handling, leading to unsuitable specimens due to misidentification,hemolysis, clotting, inappropriate volume, wrong container, contamination from the infusive route. Detection,acknowledgement and management of pre-analytical variables, is mandatory for delivering accurate laboratoryresults. The present document, issued by the Study Group on Haemostasis of the Italian Society of LaboratoryMedicine, is a summary of the recommendations for standardisation of the pre-analytical phase of the coagulationtesting, related to sample collection, transportation, and storage and provides guidance to reduce the effects of pre-analytical issues that can have a significant impact on patient care.

TAG: Emostasi   emolisi   fase preanalitica  
Biochimica Clinica
DOI: 10.19186/BC_2019.024
Pubblicato online il: 29.04.2019
Documenti SIBioC - SIBioC Documents
Raccomandazioni per l'implementazione del Test genetico BRCA1/2 nelle pazienti con carcinoma ovarico: dall'analisi sul tessuto tumorale a quella su DNA germinale.
Recommendations for the implementation of BRCA1/2testing in ovarian cancer patients: from tumor togermline analysis. Joint document from SIBioC, AIOM, SIGU, SIAPEC-IAP

Since the approval of the first polyadenosine diphosphate (ADP) ribose polymerase inhibitor (PARPi), olaparib for platinum-sensitive relapsed highgrade ovarian cancer, with either germline or somatic BRCA1/2deleterious variants, the strategies for BRCA1/2testing are dynamically changing. In fact, along with germline assay, patients are now tested for tumor BRCA1/2alsoabove all for treatment decisions. In fact, it is reported as by tumor BRCA analysis we can identify 3–9% moremutated women which can therefore benefit from PARPi therapy. Although this new type of approach looks likechallenging, in particular due to the technical and analytical difficulties regarding low quality DNA deriving fromformalin-fixed paraffin-embedded specimens, the new CE-IVD on NGS-based pipelines, can overcome these issues,allowing specialized molecular laboratories to ensure high quality results and perform the best test settings.Nevertheless, each new NGS pipeline (CE-IVD or in house) should be validated using peculiar samples along withcommercially available reference and certified materials, before being introduced in routine settings. The validationset should be appropriately chosen in order to provide unequivocal data regarding robustness of each NGStBRCApipeline. Therefore, in order to harmonize the patient and laboratory path, a group of Italian Scientific Societies[Italian Society of Clinical Chemistry (SIBioC), Italian Association of Medical Oncology (AIOM), Italian Association ofClinical Pathology (SIAPEC), Italian Society of Human Genetics (SIGU)] provided the present recommendationswhich are aimed to guide all professionals (oncologists, gynaecologists, clinical and laboratory geneticists, clinicalmolecular biologists and pathologists). The intersociety group is confident that the present paper can offer all ovariancancer women a well-organized pathway of diagnosis and treatment.

TAG: Indagine genetica   neoplasia ovarica   geni BRCA  
Biochimica Clinica
DOI: 10.19186/BC_2019.026
Pubblicato online il: 29.04.2019
Documenti SIBioC - SIBioC Documents
Documento di consenso Gruppo di Studio di Farmacotossicologia Clinica e Doping SIBioC e Gruppo Tossicologi Forensi (GTFI). Modalità per lo svolgimento di indagini di laboratorio per la determinazione delle sostanzed’abuso
Consensus document of the Study Group on Clinical Pharmacotoxicology and Doping of Italian Society ofClinical Biochemistry and Italian Forensic Toxicologists Group (GTFI) – for laboratories involved in thedetermination of substances of abuse

The greatest workload for the laboratories performingpharmacotoxicological tests remains the routine activity for detection and measurement, in different biologicalmatrices, of psychotropic substances such as opiates, cocaine, cannabinoids, amphetamines, methadone,buprenorphine and ethyl alcohol. In addition to the investigations requested for clinical reasons, the requests to thepharmacotoxicological laboratories may also include medico-legal investigations, whose variety and complexitycontributed to the adoption of personalized and extremely diverse operating modalities implemented in the Italianlaboratories. The purpose of this document is to provide the Laboratories of the National Health Service in Italy thatare planning to carry out or that already perform determination of drugs of abuse for medico-legal purposes, withrecommendations at national level that take into account the “good laboratory practices” recognized at theinternational level in order to perform accurate and precise analytical tests so that they can meet the requirementsnecessary to provide a high quality and legally unassailable service.

TAG: Cannabinoidi   farmaci psicotropi   programmi sanitari nazionali  
Biochimica Clinica
DOI: DOI: 10.19186/BC_2019.037
Pubblicato online il: 17.04.2019
Documenti SIBioC - SIBioC Documents
Interferenza da biotina negli immunodosaggi: raccomandazioni del Gruppo di Studio SIBioC sulla Variabilità Extra-Analitica (SIBioC-VEA)
Biotin interference in immunoassays: recommendations of the SIBioC Working Group on Extra-AnalyticalVariability (WG-VEA).
TAG: interferenza analitica   biotina   immunoassay  
Biochimica Clinica
DOI: 10.19186/BC_2019.010
Pubblicato online il: 07.03.2019
Ridurre l’inappropriatezza in medicina di laboratorio: come, quando e perchè
Improving appropriateness in laboratory medicine: how, when and why

The issue of the appropriateness in laboratory medicine has been discussed from several years in association to theparallel onset of two aspects: 1) the significant increase in tests demand and utilization, thanks to the developmentof laboratory automation and information laboratory systems (LIS), that allow to provide timely and reliable results toclinicians; 2) the opportunity, thanks to new pathophysiological knowledge and new technologies to introduce newand more sophisticated tests in clinical practice, providing a relevant support to the clinician in the management ofpatients, according to the improved vision of personalized medicine. As a consequence, the potentialinappropriateness in test utilization and the need to manage demand and to reduce the redundant testing havereceived increasing concern. Several papers, in the recent literature, demonstrated that the inappropriateness inlaboratory test utilization may represent a potential source of errors, and interesting strategies have been proposedand progressively adopted in order to limit this problematic outcome. An essential issue is to assure appropriatenessnot only in test request, but in all steps of the testing cycle. In particular, some of the more relevant issues has beenlinked to: rationalization of laboratory test ordering prescription, thanks to development of a computerized clinicaldecision support systems; implementation of the reflexing tests rule; definition of the minimum retesting intervalaccording to the clinical and pathophysiological criteria; timely revision of the available panel tests in order to deletethose considered obsolete from clinical and analytical point-of-view and, finally, improving the education in demandmanagement. The “clinical laboratory stewardship” seems to be the new and shared strategy, that guarantees notonly the appropriate utilization and interpretation of laboratory tests improving efficacy and providing efficiency but,more importantly, the future of the discipline and the role of laboratory professionals in the context of new and morecomplicated clinical and economical scenarios.

TAG: Appropriatezza   Esami di Laboratorio   Qualità in Medicina  
Biochimica Clinica
DOI: 10.19186/BC_2019.009
Pubblicato online il: 22.02.2019
Documenti SIBioC - SIBioC Documents
La ricerca degli anticorpi anti-nucleo non è sempre di facile interpretazione
Anti-nucleus antibodies detection is not always easy to interpret

Antinuclear antibodies (ANA) displaying densefine speckled pattern on HEp-2/HEp-2000 cells are frequently observed in clinical laboratory, often associated withanti-DFS70 antibodies. Anti-DFS70 positive patients rarely develop systemic autoimmune rheumatic disease,especially in the absence of clinical evidence or additional antibodies.
A 60-years old woman complaining severe muscle weakness of the legs was tested positive for dense fine speckledANA pattern by indirect immune-fluorescence. Immunoblot analysis revealed the presence of anti-DFS70 antibodies.Positivity for anti-dsDNA antibodies, not revealed by immunoblot, was also found by Crithidia luciliae(CL). All theresults were confirmed by a different laboratory.
This case underlines the complex interpretation of a laboratory scenario where anti-DFS70 possibly coexist with muchmore specific and clinically relevant ANA. The discrepancies (observed in both laboratories) between CL and theother methods is puzzling, and may be due to different reasons, including false positive CL results or interference.

TAG: Patologie reumatiche   anticorpi   immunofluorescenza indiretta  
Biochimica Clinica
DOI: 10.19186/BC_2019.054
Pubblicato online il: 04.07.2019
Casi Clinici - Case Report
Una malattia neurologica di difficile inquadramento
A neurological disease difficult to classify

We describe a case of a 32 year old woman visiting to the NeurologyUnit with progressive bi-frontal headache and reduced visual acuity followed by disequilibrium and dysarthria.
Cerebrospinal fluid (CSF) analysis documented pleyocitosis with slight CSF-blood-barrier damage.
Routine laboratory tests that were all negative except for the presence of serum anti-myelin oligodendrocyteglycoprotein (MOG) antibody.
Thanks to the laboratory test results, neurologists could classified the patient as a case of encephalomyelitis anti-MOG antibody related and have treated her with methylprednisolone followed by Rituximab with clinical improvementand reduction of brain lesion.
Anti-MOG antibody associated to encephalomyelitis is currently considerated as a distinct nosologic entityimmunopathogenetically identifiable among the neuromyelitis spectrum disorders.
The case illustrated here underlines the central role of the clinical laboratory for the correct diagnosis of demyelinatingnervous system diseases.

TAG: Encefalomielite   disartria   rituximab  
Biochimica Clinica
DOI: 10.19186/BC_2019.055
Pubblicato online il: 04.07.2019
Casi Clinici - Case Report
Sofferenza tubulare in un paziente con recente trapianto di rene
Tubular disfunction in a patient with a recent kidney transplant

The case reports about a patient who underwenta kidney transplantation for chronic disease of unknown cause. The clinical course showed a delayed graft functionand acute tubular necrosis. Urine microscopy confirmed a tubular disfunction: presence of renal epithelial cells,cylindruria and crystals. The microscopy images showed brownish-colored crystals that, under polarized light,suggested a 2.8-dihydroxyadenine (DHA) urolithiasis, rare and underdiagnosed pathology, due to the deficiency ofadenine-phosphoribosyltransferase (APRT). The specific analysis, i.e. the determination of the enzyme activity onerythrocyte lysate, did not confirm our initial hypothesis, excluding de facto a DHA urolithiasis. Analysis of purine andpyrimidine profile confirmed the presence of a purine dysmetabolism. The patient was treated with allopurinol, whichimproved the clinical picture. This case underlines the need for more extensive studies of crystal and/or metabolicnephropathies before renal transplantation. The microscopy study was however useful to trigger investigations thathave then influenced the therapy and the clinical progress of the patient.

TAG: Nefropatia   sedimento urinario   adenina fosforibosil transferasi  
Biochimica Clinica
DOI: 10.19186/BC_2019.038
Pubblicato online il: 23.05.2019
Casi Clinici - Case Report
Esame emocromocitometrico: telemedicina e competenze
S. Buoro  |  G. Da Rin  | 
TAG: striscio di sangue   blasti   ematologia    
Biochimica Clinica
DOI: 10.19186/BC_2019.056
Pubblicato online il: 12.07.2019
Lettere all'Editore - Letters to the Editor