Maria Stella Graziani

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Martina Zaninotto

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Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
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Magdalena Krintus Poland
Giuseppe Lippi Italy
☩Howard Morris Australia
Mario Plebani Italy
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BC: Articoli scritti da M. Ciaccio

Catene leggere libere nella diagnostica liquorale della sclerosi multipla: possibile alternativa alla ricerca delle bande oligoclonali?
Free light chains in diagnosis of multiple sclerosis: an alternative to oligoclonal bands?
<p>Multiple sclerosis (MS) is one of the most common causes of neurological disability in young adults. MS presents heterogeneous clinical manifestations and both genetic and environmental factors are considered involved in the risk of developing the disease. The clinical diagnosis is rather complex reflecting the heterogeneity of the pathology. The diagnostic criteria, frequently modified over the years, require clinical symptoms, presence of typical lesions detected by magnetic resonance imaging and laboratory findings. The laboratory examination of the cerebrospinal fluid (CSF) allows an evaluation of inflammatory processes confined to the central nervous system reflecting the changes in the immunological pattern due to the progression of the pathology, playing thus an important role in the diagnosis and monitoring of MS. The detection of the oligoclonal bands (OCBs) is recognized as a &ldquo;gold standard&rdquo; for laboratory diagnosis of MS, although it suffers from methodological limitations. Indeed, OCBs assay is a manual multistep procedure, time-consuming that requires a subjective interpretation. In the last years, the measurement of the free light chains (FLC) in CSF appeared to assist in the diagnosis of MS. This procedure has been presented as a simpler and cheaper tool than the qualitative detection of OCBs. This article examines the current knowledge about the laboratory diagnostic of CSF, investigating both the validated method (OCBs) and the alternative biomarkers of immunoglobulins intrathecal synthesis, as the quantification of FLC in CSF.</p>
Biochimica Clinica ; 44(2) 157-167
Opinioni - Opinions
Pazienti diabetici di tipo 2, non in terapia insulinica e albumina glicata: una valutazione multidimensionale
Insuline-Naive type 2 diabetic patients: a multidimensional evaluation on the role of glycated albumin
<p>Insuline-Naa&iuml;ve type 2 diabetic patients: a multidimensional evaluation on the role of glycated albumin Introduction: glycated Albumin (GA) is an innovative glycemic marker, that could be used in the clinical practice, as an add-on strategy, to the traditional glycemic monitoring systems, such as glycated haemoglobin (Hb1Ac) and fasting plasma glucose (FPG). The study aims at presenting the results of a multidimensional analysis conducted in Italy, exploring the main clinical, economic, ethical, social and organizational implications, related to the introduction of GA. Methods: an Health Technology Assessment (HTA) approach was implemented. The analysis considered the Italian National Healthcare Service (NHS) perspective, and assumed a 12-month time horizon, focusing on type 2 diabetes patients insulin-na&iuml;ve, assuming oral therapy. The 9 HTA dimensions (derived from the Core Model developed by the European Network of HTA &ndash; EUnetHTA) were deployed, considering scientific evidence, health economics tools and qualitative approaches, through the administration of specific questionnaires to 15 diabetes experts. Results: literature reported better GA safety and efficacy profiles, thus being a predictor of the relative risk for diabetes complications development, and increasing the therapeutic success after 3 months of therapy (97.0% versus71.6%). From an economic point of view, GA introduction resulted in an economic advantage of 1.06% and in a better trade-off between costs sustained and efficacy gained. Considering a 7-item Likert Scale (ranging from -3 to +3), negative perceptions emerged with regard to equity aspects (0.13 versus0.72) due to GA limited accessibility, whereas it would improve both patients (2.17 versus1.33) and care givers (1.50 versus0.83) quality of life. In the short term, GA required training courses and equipment update, whereas, in the long term, it could be considered the preferable solution from an organizational perspective (0.30 versus0.01). Conclusions: the results of this study demonstrated GA strategic relevance, its economic sustainability and feasibility, as well as the potential clinical pathway improvement.</p>
Biochimica Clinica ; 44(1) 052-060
Contributi Scientifici - Scientific Papers
Galectin-3 and Lp(a) plasma concentrations and advanced carotid atherosclerotic plaques: correlation with plaque presence and features
<p>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.<br />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).<br />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&lt;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&lt;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.<br />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.</p>
Biochimica Clinica ; 43(3) 289-295
Contributi Scientifici - Scientific Papers
Oncologia di precisione: la terminologia è importante.
Precision oncology: when the metrics does matter.
<p>Precision oncology can be considered as the application of &quot;Precision Medicine&quot; to the management of cancerpatients. Although this new chapter of the modern medicine is really exciting and many clinicians and researchers arespending some efforts in the setting of tests and clinical trials able to identify new potential biomarkers, theidentification of the specific oncogenic mutation driving the tumor growth and giving a chance of target-selective drug,still remains challenging. Sometimes the term precision medicine as wee as precision oncology can be consideredtoo simplistic: in practice, indeed, some important issues like the genetic heterogeneity of tumors, the complexity ofpathways used by different tumors, and the inevitable development of drug resistance, are not considered as a partof complete patients&rsquo; disease evolution. Therefore, in order to guide clinicians and laboratory community to harmonizethe metrics surrounding the precision oncology path, a glossary has been defined by an intersociety group. Thepresent joint document has been elaborated by the following scientific societies: Italian Society of Clinical Chemistry(SIBioC), Italian Association of Medical Oncology, Italian Association of Clinical Pathology (SIAPEC), Italian Societyof Farmacology (SIF) and is aimed to allow the research and clinical communities to familiarize with new conceptsand terminologies which are not often well defined. We underline as, in the management of the paths related to theprecision oncology, the terminology is fundamental, both for the scientific aspects and for those related to thecommunication with the patients. Therefore, below is a glossary that can be useful to all specialists in the clinical area,basic and translational research.</p>
Biochimica Clinica ; 43(3) 339-347
Documenti SIBioC - SIBioC Documents
Ridurre l’inappropriatezza in medicina di laboratorio: come, quando e perchè
Improving appropriateness in laboratory medicine: how, when and why
<p><span style="color:rgb(33, 29, 30); font-size:9pt">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 &ldquo;clinical laboratory stewardship&rdquo; 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.</span></p>
Biochimica Clinica ; 43(3) 305-312
Documenti SIBioC - SIBioC Documents
155° Course, International School of Medical Sciences Ettore Majorana Foundation and Centre for Scientific Culture
M. Ciaccio  | 
<p>Si &egrave; tenuto nei giorni 29-31 Maggio 2018 il 155&deg; Corso dal titolo The New Era of Laboratory Medicine: from diagnosis to clinical management nell&rsquo;ambito delle attivit&agrave; annuali della International School of Medical Sciences dell&rsquo;Ettore Majorana Foundation and Centre for Scientific Culture (EMFCSC) di Erice, diretta dal professor Antonino Zichichi. L&rsquo;EMFCSC, fin dal 1962, anno della sua istituzione, richiama studiosi da tutto il mondo a presentare i risultati delle ricerche pi&ugrave; all&rsquo;avanguardia. Oggi la fondazione comprende pi&ugrave; di 120 scuole che abbracciano quasi tutti i settori delle scienze di base ed applicate, dalla fisica, disciplina per cui la fondazione mantiene una forte vocazione, all&rsquo;epidemiologia e medicina preventiva, farmacologia, neuroscienze, e molte altre. Il corso &egrave; il primo nell&rsquo;ambito delle attivit&agrave; dell&rsquo;International School of Medical Sciences, diretta dallo stesso Zichichi e dal professor Ignazio Carreca, a trattare temi propri della Medicina di Laboratorio e di grande rilevanza per la Societ&agrave; Italiana di Biochimica Clinica e Biologia Molecolare Clinica &ndash; Medicina di Laboratorio (SIBioC). I Direttori del corso, il professor Marcello Ciaccio ed il professor Francesco Salvatore, hanno ricoperto entrambi la carica di presidente SIBioC nei bienni, rispettivamente, 2016/2017 e 1985/1986 &ndash; 1987/1988 ed hanno contribuito con entusiasmo alla crescita della societ&agrave;.&nbsp;</p>
Biochimica Clinica ; 42(4) 350-351
SIBioC news - SIBioC news
Un nuovo ruolo del CYP2R1nella sclerosi multipla
A new role of CYP2R1 in multiple sclerosis
<p>Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D metabolism have gained great attention. The aim of our study was to assess two single nucleotide polymorphisms (SNPs) in CYP2R1 in relation to serum 25-OH-vitamin D3 levels in MS patients and healthy controls. 25-OH-vitamin D3 serum concentrations and genotyping of CYP2R1-SNPs gene were analysed both in MS patients and in healthy controls. In particular, rs10741657 and rs10766197 of CYP2R1 gene were assessed by real-time allelic discrimination Taq-Man assay (Applied Biosystems, Forster City, USA); 25-OH-vitamin D3 serum concentration was measured by a high-performance liquid chromatography (HPLC) method. Statistical analysis was performed by a SPSS software (version 13.0). The analysis of the obtained results showed lower 25-OH-vitamin D3 concentrations in MS patients than in controls. When comparing genotype distribution and allele frequencies of the two selected SNPs between cases and controls, significant differences were observed only for CYP2R1 rs10766197. Minor allele of CYP2R1 rs10766197 (A) was significantly represented in MS patients, demonstrating an association of allele A to MS. Analysis of the CYP2R1 rs10766197 distribution in MS patients showed that patients carrying the genotype AA had a trend of lower levels of 25-OH-vitamin D3 in comparison to those with genotype GG or GA, although not statistically significant. Moreover, after stratifying MS patients according to gender, we found that the minor allele A of rs10766197 in homozygosis was associated with disease progression, assessed by Expanded Disability Status Scale and Multiple Sclerosis Severity Score scores, only in men. Our study demonstrates a role of CYP2R1 in both risk and progression of MS, with sex-related differences</p>
Biochimica Clinica ; 42(4) 294-299
Contributi Scientifici - Scientific Paper
Glycated albumin is correlated to insulin resistance and β-cell secretory function in subjects at risk of developing diabetes
<p>Insulin resistance and &beta;-cell secretory function represent two main issues in the pathogenesis of type 2 diabetes mellitus (T2DM). Conflicting results have been obtained about the association between glycated albumin (GA) and body mass index (BMI), insulin resistance and &beta;-cell function in diabetic patients. Actually, the relationship (if any) between GA and the markers of glucose homeostasis and insulin resistance in subjects at risk of developing diabetes, has not been completely elucidated yet. Two hundred and one patients undergoing to oral glucose tolerance test (OGTT) were enrolled in the study. Routine laboratory tests, including fasting insulin, were performed at enrollment. GA was measured on plasma-EDTA by quantILab<sup>&reg;</sup> Glycated Albumin (Instrumentation Laboratory, A Werfen Company) on ILab Taurus analyzer. According to the plasma glucose concentration measured after 2 hours of glucose intake (2h- PG), 13 subjects (6.4%) were classified as impaired glucose tolerance (IGT). GA weakly correlated with fasting plasma glucose (FPG) (r=0.21; P=0.002), with HbA1c (r=0.16; P=0.024) but not with 2h-PG (P=0.7). GA, but not HbA1c, was negatively correlated to HOmeostasis Model Assessment for &beta; cell fuction (HOMA-&beta;) (r<sup>2</sup>=0.23; P&lt;0.001), to HOMA for insulin resistence (HOMA-IR) (r<sup>2</sup>=0.15; P&lt;0.0001) and to BMI (r<sup>2</sup>=0.05; P=0.001). In a stepwise multivariate regression analysis including HbA1c, HOMA-&beta;, plasma albumin, BMI, eGFR, age, FPG, and HOMA-IR as predictors of GA, only HbA1c (&beta;-coefficient: 0.04; P=0.038) and HOMA-&beta; (&beta;-coefficient: -0.01; P&lt;0.0001) were able to predict GA levels (r<sup>2</sup>=0.26; P&lt;0.001 for the model). Our results demonstrated that GA was associated to HOMA-&beta; and, to a lesser extent, to HOMA-IR and BMI. The increase of GA values can be explained by the reduction of &beta;-cell secretory function in subjects with no significant increase of FPG and 2h-PG.</p>
Biochimica Clinica ; 42(3) 234-239
Contributi Scientifici - Scientific papers
Indagine conoscitiva congiunta SIBioC-Medicina di Laboratorio e Associazione Italiana Pneumologi Ospedalieri (AIPO) relativa alla gestione del processo diagnostico del liquido pleurico
Results of a survey produced by the Italian Society of Clinical Biochemestry (SIBioC) and the Italian Association of Hospital Pneumologists (AIPO) concerning pleural fluid analysis
<p>The aim of this paper is to present the preliminary results of a joint project by SIBioC-AIPO working group on &ldquo;Body cavities fluids&rdquo;. The main purpose of the working group is to achieve a harmonized and shared diagnostic pathway related to pleural fluid (PF) analysis. The multistep project begins with a state of the art analysis. A survey, sent to both laboratory medicine personnel and pneumologists, was conducted between October and December 2016. The questionnaire (21 questions) was made available through the web-based SurveyMonkey platform. Overall, 408 replies were collected, 40.4% from laboratory medicine specialists, 3.2% from laboratory technicians, 49.3% from pneumologists and 7.1% from professionals with non-specified qualification. Regarding the pre-analytical phase, the most critical issue resulted to be the clinical query, due to the lack of structured communication between clinicians and laboratory personnel. While over 76% of laboratory professionals stated that the working diagnosis was unavailable, 87% of pneumologists affirmed that the clinical question had been forwarded to the laboratory. An important issue was the widespread use of inappropriate containers for PF collection (60% of inappropriate tubes). Regarding the panel of tests, a satisfactory agreement was reached on the need to perform macroscopic analysis and cytometric evaluation, along with the assessment of pH, glucose, total proteins, lactate dehydrogenase and the respective ratios between PF and serum concentrations. As expected, the availability of verified or validated analytical methods, notably pH analysis, has emerged as a critical point. The layout of the laboratory report also needs improvements and better harmonization. Despite the many critical issues emerged from this survey, a positive feedback was reflected by a notable general interest on PF analysis, leading thus the way to produce a joint consensus document involving clinicians and laboratory personnel, as suggested by more than 30% of responders.</p>
Biochimica Clinica ; 42(2) 119-130
Contributi Scientifici - Scientific papers
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
Incremento acuto di troponina I in assenza di malattia coronarica ostruttiva: un caso di sindrome di Takotsubo
Acute troponin I increase in absence of obstructive coronary disease: a case of Takotsubo syndrome
C. Bellia  |  B. Lo Sasso  |  L. Agnello  |  G. Bivona  |  G. Novo  |  M. Ciaccio  | 
<p>A 66-year-old woman was admitted to the Emergency Department of Policlinico P. Giaccone, in Palermo, for nonradiating chest pain that occurred after an emotional stress. Her medical history included a positive family history for cardiovascular disease, arterial hypertension, gastro-esophageal reflux disease, and anxiety-depressive syndrome. Upon admission, the electrocardiogram showed diffuse ST-T abnormalities with an elevation of the ST segment; Troponin I was 3790 ng/L, creatine phosphokinase was 374 U/L, which became normal within 48 hours. No evidence of significant coronary artery stenosis was detected on the angiography. The echocardiogram showed apical akinesia and hyperkinesia of the basal segments of left ventricle, with moderately impaired ventricular function (Left Ventricular Ejection Fraction, LVEF=43%). Cardiac magnetic resonance imaging ruled out myocarditis and confirmed the diagnosis of Takotsubo cardiomyopathy. Supportive therapy with Angiotensin Converting Enzyme inhibitors, spironolactone and acetylsalicylic acid was initiated. After 30 days, the echocardiogram showed a complete recovery of left ventricular function. Takotsubo syndrome was diagnosed based on instrumental, clinical and biochemical findings.</p>
Biochimica Clinica ; 41(3) e19-e21
Casi clinici - Case report
Esami di laboratorio in Pronto Soccorso: una proposta di consenso SIBioC - Medicina di Laboratorio e Academy of Emergency Medicine and Care
Laboratory tests in the Emergency Department: a consensus document by SIBioC-Medicina di Laboratorio and the Academy of Emergency Medicine and Care
<p>Laboratory diagnostics in the emergency setting encompasses the identification of appropriate testing according to specific acute conditions. Since the pathway of ordering tests in the Italian Emergency Departments (EDs) is rather heterogeneous, SIBioC-Medicina di Laboratorio and the Academy of Emergency Medicine and Care designed a survey aimed to generate consensus pertaining to appropriate laboratory tests in most frequent acute conditions. A questionnaire including a panel of laboratory tests was administered to 8 representative members of each of the two societies, who were asked to provide a score between 1 and 3 for the various tests, where a score of 1 entailed &ldquo;highly recommended&rdquo;, 2 &ldquo;recommended in specific conditions&rdquo; and 3 identified &ldquo;highly discouraged&rdquo; tests. The results of the questionnaire are shown as mean (&plusmn;SD) of individual responses, thus allowing to define a scale of priority comprised between &ldquo;highly recommended&rdquo; and &ldquo;highly discouraged&rdquo;. Overall, 24 tests were classified as &ldquo;highly recommended&rdquo;, whereas 6 were &ldquo;highly discouraged&rdquo;. The remaining 16 tests were classified as &ldquo;somehow recommended&rdquo; or &ldquo;somehow discouraged&rdquo;. In the expectations of the two societies, this document may represent a first step towards harmonizing the laboratory test ordering in Italian EDs.</p>
Biochimica Clinica ; 41(2) 183-188
Documenti SIBioC - SIBioC Documents
Attività di SIBioC - Medicina di Laboratorio e soddisfazione dei soci: risultati di un questionario
Survey on the satisfaction of SIBioC members on the society’s activities
S. Buoro  |  M. Ciaccio  |  F. Ceriotti  | 
<p>This report presents the results of a survey performed on Oct-Nov 2015 on SIBioC member satisfaction. The survey addressed event attendance/received value, networking opportunities and overall benefit of SIBioC membership. An on-line questionnaire was sent to all SIBioC members through the web-based SurveyMonkey platform and the resulting database was statistically analyzed. The respondents (514 out of 2000 members) can be considered a representative sample of the associates, since different professional branches were represented proportionally. The large majority of respondents were familiar with SIBioC Newsletter and expressed a positive opinion on it. 71% of the respondents declared to access the official website from 1 to 5 times per month. Finally, 50,8% of respondents declared that they were aware of the existence of Lab Tests Online (LTO) website, with the majority of them (78.2%) being satisfied with it. Overall, the survey data showed a good level of satisfaction with SIBioC educational offer. The only aspect not completely positive was the limited knowledge of LTO, despite the large investment made on it by the society. Regarding the current scenario of reorganization of the laboratory network, many respondents addressed specific requests related to both enhancing the ad hoc education and improving the dialogue with institutions and other scientific societies. In these two fields, SIBioC is currently putting large efforts. Overall, the survey gave a positive feed-back stimulating the SIBioC management to further ameliorate the service to members, with the aim of contributing in continuously improving the quality of laboratory services and then the patient care.</p>
Biochimica Clinica ; 41(1) 096-101
Documenti - Documents
La diagnostica di laboratorio delle dislipidemie
The laboratory diagnosis of dyslipidemia
<p>Dyslipidemias represent a major contributor to cardiovascular risk in Western countries, including Italy, that can be modified. After examining familial dyslipidemias and describing the essential issues for clinical and laboratory diagnostics, the paper considers the laboratory testing in detail. The preanalytical sources of variability (biological, sample collection and handling) are reviewed and essential indications to reduce them are given. About the analytical variability, the paper examines the methods routinely used for measuring the basic lipid parameters (total, LDL and HDL cholesterol, triglycerides and apolipoproteins A-I and B) and describes the state of art of the standardization of these analytes. The last section of the document deals with the reporting of laboratory results. The main indications of the document are the following: a) report the desirable values established by the European guidelines besides the measured concentrations; b) make always clear that the reported values are decisional cut points and not reference limits; c) add a note stating that the reported desirable values refer to individuals at low risk; d) report as critical values lipid concentrations deserving rapid clinical attention, i.e., total cholesterol, &ge;8,00 mmol/L (310 mg/dL); LDL cholesterol, &ge;4,90 mmol/L (190 mg/dL); triglycerides, &ge;10,0 mmol/L (880 mg/dL).</p>
Biochimica Clinica ; 40(4) 338-346
Documenti SIBioC - SIBioC Documents
Polimorfismo I/D del gene per l’enzima di conversione dell’angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva?
Polymorphism of the angiotensin converting enzyme gene: longevity gene or risk factor in hypertensive disease?
<p>In recent decades, the increase in life expectancy stimulated the study of aging processes and the search for&nbsp;candidate genes involved in longevity. The angiotensin converting enzyme (ACE), present in all endothelial cells, plays&nbsp;an essential role in maintaining the homeostasis of blood flow by regulating the production of the vasoconstrictor&nbsp;angiotensin II and inactivating the bradykinin. Some studies reported a possible association between the polymorphism&nbsp;I/D of ACE gene and either hypertension and longevity. The present study was aimed to confirm these data. We studied&nbsp;two large cohorts of nonagenarians and centenarians. One was from Sardinia (200 subjects, 88 males, mean age: 96&nbsp;years) and their data were compared to a group of 222 subjects (106 males, mean age: 44 years) from the general&nbsp;population of the same geographic area. The latter group of longeve subjects (161 subjects, 71 males, mean age: 97&nbsp;years) was from Southern Italy. Furthermore, we studied 146 hypertensive patients (98 males, mean age: 51 years) and&nbsp;172 normotensive subjects (86 males, mean age: 33 years) from Southern Italy. The ACE I/D polymorphism was typed&nbsp;by polymerase chain reaction; the amplified 490 bp (allele I) and 190 bp (allele D) were visualized on 2% agarose gel.&nbsp;Hypertensive subjects had a significantly different distribution of ACE genotypes as compared to normotensive ones&nbsp;(P=0.001) and a higher frequency of the D/D genotype. Long-lived subjects from Sardinia showed a significantly different&nbsp;distribution of ACE genotypes as compared to subjects from the general population of the same geographic area (P&nbsp;&lt;0.001), to long-lived subjects from Southern Italy (P &lt;0.001), to hypertensive patients (P=0.011) and to normotensive&nbsp;subjects from Southern Italy (P &lt;0.001). Surprisingly, they had the highest frequency of the D/D genotype among the&nbsp;compared groups. Our study indicates that: i) centenarians of different ethnic origin have a different genetic background,&nbsp;ii) there is a possible association between longevity and allelic variants of ACE, even if only in specific ethnic groups (i.e.,&nbsp;Sardinian) and iii) ACE polymorphisms are a predisposing factor to hypertension.</p>
Biochimica Clinica ; 37(6) 461-464
Contributi scientifici - Scientific papers