La terapia anticoagulante orale: stato dell’arte ed esperienze personali

R. Facchinetti
Laboratorio Analisi Chimico-Cliniche ed Ematologiche, Ospedale Civile Maggiore, Azienda Ospedaliera di Verona, Centro 186 della Federazione dei Centri per la Diagnosi della Trombosi e la Sorveglianza delle Terapie Antitrombotiche (FCSA)

Biochimica Clinica: 2008; 32(1): 9-26 [Article in italian]

ABSTRACT
Oral anticoagulant therapy: state of the art and personal experiences. This paper outlines the main problems concerning the current management of patients taking oral anticoagulant therapy. Leading on from the historical background, we deal with the mechanism of action of these drugs, the laboratory approach towards patients and blood samples, the significant steps in the development of laboratory tests, and the current clinical applications of anticoagulant drugs. We then describe the experience of our Anticoagulation Clinic, with special regards to the quality outcome and its assessment, and the emerging problem of therapy monitoring and decentralization managing. We conclude summarizing the expected outcomes in the development of new drugs, identifying the prospects and the future role of Anticoagulation Clinics.

La determinazione dell'emoglobina glicata nel sangue umano: attualità e prospettive
A. Mosca
Centro Interdipartimentale per la Riferibilità Metrologica in Medicina di Laboratorio (CIRME), Dipartimento di Scienze e Tecnologie Biomediche, Università degli Studi di Milano

Biochimica Clinica: 2008; 32(1): 27-35 [Article in italian]

ABSTRACT
The measurement of glycated haemoglobin in human blood: news and perspectives. Glycated haemoglobin (HbA1c) is the gold standard measurement for assessing the glycometabolic control in diabetics. Aim of the present paper is to give an update about the analytical and clinical aspects related to this test, as well to summarize the status of the international process of standardization of HbA1c measurement. A brief discussion about the issues related to the transition to the IFCC standardized assays is presented together with the most recent proposals related to the studies on the relationship between HbA1c and “mean blood glucose".

Circulating nucleic acids as diagnostic tool
M. Ferrari*, L. Cremonesi, S. Galbiati
* Università Vita-Salute San Raffaele, Milano

Biochimica Clinica: 2008; 32(1): 36-39 [Article in italian]

ABSTRACT
Circulating nucleic acids are present in small amounts in the plasma of healthy individuals. However, the occurrence of circulating nucleic acids has long been explored for the non-invasive diagnosis of a variety of clinical conditions. Studies focused on various forms of cancer first detected the presence of circulating DNA. Metastasis and recurrence in certain tumours have been associated with the presence of high levels of cancer-derived DNA in circulation. The detection of fetal DNA in maternal plasma is useful in detecting and monitoring fetal diseases and pregnancy-associated complications. Similarly, levels of circulating DNA in acute medical emergencies, including trauma and strokes, have been reported to be increased and explored as indicators of clinical severity. In the last few years, much attention and efforts have been focused on the study of circulating RNA, starting from the detection of tumor-derived RNA in the plasma of cancer patients. Detection of circulating fetal RNA in maternal plasma was also described. Its detection looks to be a promising approach for the development of gender- and polymorphism-independent fetal markers for prenatal diagnosis and monitoring complications during pregnancy. This development also opens up the possibility of non-invasive prenatal gene expression profiling by maternal blood analysis

Post-natal molecular diagnosis of inherited diseases

M. Ferrari*, L. Cremonesi, S. Stenirri
* Università Vita-Salute San Raffaele, Milano

Biochimica Clinica: 2008; 32(1): 40-43 [Article in english]

ABSTRACT
Molecular diagnostics is being revolutionized by the completion of the human genome project and by the development of highly advanced technologies for DNA testing. The coupling of polymerase chain reaction with a panel of tools for gene mutation identification has led to the development of methods for detecting known mutations or screening for unknown sequence alterations. Assays based on nucleic acid hybridization with short oligonucleotide probes or on the use of DNA modifying enzymes have been developed for single nucleotide polymorphism genotyping in inherited diseases caused by a small number of mutations, and protocols based mainly on heteroduplexes analyses have been employed for gene scanning in diseases associated with a high number of different and private DNA variations. Here we describe the most important methods that are commonly utilized in molecular diagnostic laboratories.

Post-natal molecular diagnosis of inherited diseases

M. Ferrari*, L. Cremonesi, S. Stenirri
* Università Vita-Salute San Raffaele, Milano

Biochimica Clinica: 2008; 32(1): 40-43 [Article in english]

ABSTRACT
Molecular diagnostics is being revolutionized by the completion of the human genome project and by the development of highly advanced technologies for DNA testing. The coupling of polymerase chain reaction with a panel of tools for gene mutation identification has led to the development of methods for detecting known mutations or screening for unknown sequence alterations. Assays based on nucleic acid hybridization with short oligonucleotide probes or on the use of DNA modifying enzymes have been developed for single nucleotide polymorphism genotyping in inherited diseases caused by a small number of mutations, and protocols based mainly on heteroduplexes analyses have been employed for gene scanning in diseases associated with a high number of different and private DNA variations. Here we describe the most important methods that are commonly utilized in molecular diagnostic laboratories.

Valutazione della commutabilità per il sistema analitico Cobas Integra dei materiali di controllo utilizzati nella VEQ per l’emoglobina glicata

P. Ponzo*, A. Dolci, L. Scapellato, M. Milano, R. Paleari, A. Mosca, M. Panteghini
*Scuola di Specializzazione in Biochimica Clinica, Università degli Studi, Milano

Biochimica Clinica: 2008; 32(1): 44-47 [Article in italian]

ABSTRACT
Evaluation of commutability for Cobas Integra analytical system of the EQA materials for hemoglobin A1c. We recently introduced the immunoturbidimetric determination of hemoglobin A1c (HbA1c) on the Roche Cobas Integra 400. Assay accuracy was checked by the National EQA scheme. In the first four exercises performed during 2006 we found a constant significant overestimation (mean ±SE, 10.1% ±0.32%) when results were compared to the reference method values. We observed, however, that this unacceptable performance was shared with the majority of the EQA participants using the same analytical system. As the manufacturer declares that HbA1c results by Integra are traceable to the reference method, we evaluated the commutability of the EQA materials for the Integra method. 58 fresh whole blood samples (WB) (HbA1c range, 4.6%-8.8%) and 22 EQA materials [8 from EQA 2005 scheme (EQA05), 8 from EQA 2006 (EQA06), and 6 from a different source (NEW)] were analyzed on both Integra and HPLC Tosoh G7, a system for which the commutability of EQA materials against the reference method was previously shown. Commutability of EQA materials was estimated by applying limits of ±2.5% the mean percentage difference (1.35%) found on WB samples between the two methods, i.e. -1.15% to +3.85%. All EQA06 (mean difference, 8.2%) and 7 out of 8 EQA05 samples (mean difference, 6.5%) were not commutable. On the contrary, 5 out of 6 NEW samples (mean difference, 1.8%) were commutable between the methods. We demonstrated that EQA materials currently employed in the National HbA1c scheme are not commutable for the Cobas Integra system.

Indicazioni per la richiesta di elettroforesi sieroproteica

M.S. Grazian*i, A. Dolci, C. Greco, P. Luraschi, M.T. Muratore, M. Mussap, G. Merlini per il Gruppo di Studio Proteine SIBioC
* Laboratorio di Analisi Chimico-Cliniche ed Ematologiche, Ospedale Civile Maggiore, Azienda Ospedaliera di Verona

Biochimica Clinica: 2008; 32(1): 48-51 [Article in italian]

ABSTRACT
Reasons for requesting serum protein electrophoresis. This document systematically analyses the indications for requesting a serum protein electrophoresis. Six possible items are evaluated: 1. Measurement of serum albumin concentrations: while electrophoresis identifies the albumin, its direct measurement is preferred. 2. Identification of a-1-antitrypsin deficiency: electrophoresis can exclude the deficiency, but an immunochemical measurement is needed for confirmation, thus electrophoresis being not indicated for this specific diagnostic problem. 3. Diagnosis/monitoring of inflammation: electrophoresis is able to identify some acute phase proteins, but its accuracy is insufficient for diagnosis and monitoring of this condition. 4 Diagnosis/monitoring of hypo/hypergammaglobulinemia: electrophoresis can be used for monitoring variations in IgG concentrations, but their direct quantitative measurement is preferable. 5. Identification of monoclonal components: electrophoresis is the technique of choice. 6. Monitoring of monoclonal components: electrophoresis is able to quantify the components and it is useful for a regular monitoring.

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