γ -Glutammiltransferasi: biochimica clinica e fisiopatologia umana

M. Franzini*, A. Corti, C. Mammini

*Scuola Superiore Sant'Anna, Pisa
Biochimica Clinica: 2009; 33(1): 9-38 [Article in italian]

ABSTRACT
γ-glutamyltransferase: clinical biochemistry and human pathophysiology. Serum γ-glutamyltransferase (GGT) activity is a sensitive test of liver function, but its clinical use is limited by the low specificity. This paper reviews the biochemical characteristics and physiological functions of GGT, the aspects of serum GGT measurement and the epidemiological and biochemical evidence related to the clinical meaning of serum GGT in human pathology and the role of membrane GGT in tumors. Epidemiological studies have shown that GGT values still within the reference interval are positively associated with the risk of onset and evolution of atherosclerotic process and related diseases, such as hypertension, type II diabetes, and metabolic syndrome. The relevance of the predictive value of serum GGT has been recently increased by studies showing the association of GGT concentrations with the risk and prognosis of cancer and renal disease. Serum GGT has also been proposed as marker of exposure to environmental xenobiotics, which may directly induce oxidative stress.

Diagnosi di laboratorio del deficit ereditario di α1-antitripsina

I. Ferrarotti, M. Gorrini, R. Scabini, M. Luisetti

Centro per la Diagnosi del Deficit Ereditario di α1-Antitripsina, Clinica di Malattie dell'Apparato Respiratorio, Fondazione IRCCS Policlinico San Matteo, Università di Pavia

Biochimica Clinica: 2009; 33(1): 39-44 [Article in italian]

ABSTRACT
Laboratory diagnosis for inherited α1-antitrypsin deficiency. The laboratory diagnosis of α1-antitrypsin deficiency has evolved over the last 40 years, since the first cases of the disorder were reported. It is currently performed in specialized centres requiring a combination of different biochemical methods: immunochemical measurement of serum α1-antitrypsin concentrations, isoelectric focusing, genotyping, and sequencing. The availability of specimens, such as the dried blood spot, have facilitated the implementation of laboratory analyses for α1-antitrypsin deficiency, but have also challenged laboratories to develop more reliable and reproducible techniques starting from dried blood. In this report we briefly review the whole matter and describe the diagnostic flow chart for α1-antitrypsin deficiency detection that we have developed in an attempt to provide useful information for physicians and scientists involved in this diagnostic setting.

Utilità del dosaggio CEDIA della EDDP (2-etilidene-1,5-dimetil-3,3-difenilpirrolidina) urinaria per la valutazione dell'outcome di soggetti tossicodipendenti sottoposti a programma di trattamento farmacologico con metadone

L. Marchioro, A. Trombin, F. Boscolo, M. Plebani

*Dipartimento di Medicina di Laboratorio, Azienda Ospedaliera di Padova

Biochimica Clinica: 2009; 33(1): 45-48 [Article in italian]

ABSTRACT
Utility of cloned enzyme donor immunoassay (CEDIA) determination of urinary 2-ethylidene-1,5dimethyl-3,3-diphenylpyrrolidine (EDDP) for outcome evaluation in drug addict subjects treated with methadone. Aim of the study was the evaluation of usefulness of the urinary EDDP determination by CEDIA in patients undergoing methadone pharmacological treatment programs. Some patients can present a fast metabolism of methadone ("fast metabolizers") with the consequence to produce low urinary concentrations of this substance, not easily detected by screening methods. Moreover, as attempt of result falsification by patients, addition of small amounts of methadone in drug-free urine samples is frequent. Measurement of EDDP, one of the main metabolic substances of methadone, can be very useful to evaluate the correct behaviour and the patients’ compliance to treatment, showing several advantages for clinical application in the monitoring of drug addict subjects treated with methadone.

Omocisteina, stress ossidativo e alterata sintesi di monossido d’azoto nelle patologie coronariche

I. Squellerio*, G. Marenzi, F. Veglia, G. Cighetti, E. Tremoli, V. Cavalca

*Centro Cardiologico Monzino, IRCCS, Milano

Biochimica Clinica: 2009; 33(1): 49-55 [Article in italian]

ABSTRACT
Homocysteine, oxidative stress and impairment of nitric oxide synthesis in coronary artery disease. Homocysteine (Hcy) is considered an independent risk factor for cardiovascular disease, particularly in patients with renal insufficiency. Hyperhomocysteinemia appears to be related to an increase of oxidative stress and a decreased nitric oxide (NO) bioavailability. Aim of our study was to analyze the relationships among Hcy, NO metabolic pathway, and oxidative stress in coronary artery disease, considering renal function. Hcy, L-arginine, symmetric- (SDMA) and asymmetric dimethylarginine (ADMA) and malondialdehyde (MDA) were determined in plasma of patients with acute coronary syndrome (ACS, n=19) or stable angina (SA, n=41) and of 38 healthy subjects (Ctr). Hcy was elevated in patients in comparison with Ctr (P=0.04 ACS vs. Ctr; P=0.01 SA vs. Ctr). MDA was also higher in patients than in Ctr (P <0.0001 ACS vs. Ctr; P=0.003 SA vs. Ctr) and in ACS vs. SA (P=0.01). SA showed higher levels of ADMA (P=0.004 vs. ACS and P=0.0007 vs. Ctr) and SDMA (P=0.07 vs. ACS and P=0.0001 vs. Ctr). Positive correlations were found between Hcy and SDMA (r=0.32, P=0.002) and HCy and MDA (r=0.20, P=0.07). Our study suggests that Hcy might be considered a key molecule in oxidative stress and in impaired NO synthesis. Furthermore, renal insufficiency might impair endothelial function by increasing both Hcy and SDMA, competing with the NO precursor L-arginine for uptake into the cells.

La giustizia, lo screening coagulativo per contraccezione orale e la “health information technology”

A. Camerotto*, F. Formenton, M.T. Furin, A. Pozzato, R. Mencarelli

*Dipartimento di Patologia Clinica, Servizio di Medicina di Laboratorio, Ospedale S. Luca di Trecenta, Azienda ULSS 18, Rovigo

Biochimica Clinica: 2009; 33(1): 56-61 [Article in italian]

ABSTRACT
Justice, coagulation screening for oral contraceptives and health information technology. The misappropriateness is one of the main critical situations in Laboratory Medicine. The problem is also economic: therefore, according to a principle of justice, the limited resources should be diverted only to prescriptions useful for patients. In this paper, the prescription of the oral contraception tests is evaluated in the prospective of the "justice". This tests are considered as an example of prescriptions, whose rational instructions for use have not yet been overall accepted by the scientific community. We remark how the principal government systems of offered laboratory services (political/administrative measures and/or guidelines) have demonstrated evident drawbacks. Therefore, more involvement of physicians are required in order to propose effective solutions coming from scientific premises for better test prescription. We propose a software (GOELM-Guide Order Entry Laboratory Medicine) that can automatically drive prescriptions. The aim is to give physicians a series of "measures of prescription", produced by experts, that can be updated in real time and allow a widespread and well-blended knowledge.

Indagine sulle modalità di refertazione dell'elettroforesi sieroproteica

A. Caldini*, M.S. Graziani, A. Terreni, G. Merlini

*Laboratorio Generale, Dipartimento di Diagnostica di Laboratorio, Azienda Ospedaliero-Universitaria Careggi, Firenze

Biochimica Clinica: 2009; 33(1): 62-65 [Article in italian]

ABSTRACT
National survey on serum protein electrophoresis reporting. Serum protein electrophoresis is mainly performed to detect monoclonal components, but, at the same time, may provide information about several proteins. A comment is usually added to electrophoresis results to clarify and integrate the provided information. In order to investigate the way of electrophoresis report among Italian laboratories, a nine-point questionnaire has been handed out to the participants of the XVI edition of the "Le proteine: dal laboratorio alla clinica" meeting. From the evaluation of the 89 collected responses and taking into account the discussion made during the interactive session of the meeting, the following suggestions could be addressed: a) an appropriate comment should be added to any report, even without monoclonal component on the electrophoretic pattern; b) the term "monoclonal component" should be used to define monoclonal immunoglobulins; any other definition (“abnormal peak”, “homogeneous peak”, etc.) should be avoided; c) confirmatory tests (i.e., immunofixation) should be performed at presentation and when a modification of the electrophoretic pattern occurs; d) monoclonal component quantification should be performed on the electrophoresis at presentation and during follow-up; e) results should be expressed in concentration (g/L). In conclusion, the post-analytical phase of serum protein electrophoresis, including interpretation and result reporting, deserves further attention as underlined by the high rate (88%) of positive responses to the question whether standardization of elecrophoresis reporting is needed.

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