Le metastasi ossee: aspetti patogenetici e clinici

Annalisa Milano, Stefania L. Stucci, Sabino Strippoli, Franco Silvestris*

*Dipartimento di Medicina Interna ed Oncologia (DIMO), Università degli Studi, Bari

Biochimica Clinica: 2010;34(1):11-18 [Article in italian]

ABSTRACT. Bone metastases: pathogenetic and clinical aspects. The skeleton is one of the most common sites for metastasis in cancer, particularly breast and prostate cancers as well as multiple myeloma. Bone metastases usually result in fractures, bone pain, spinal cord compression, and hypercalcemia, with severe involvement of both quality of life and survival. Knowledge of pathogenetic mechanisms of bone metastases is thus essential to develop new molecular therapies targeting major factors involved in bone resorption.

Laboratory evaluation of pancreatic diseases

Mauro Panteghini

Cattedra di Biochimica Clinica e Biologia Molecolare Clinica, Dipartimento di Scienze Cliniche “Luigi Sacco”, Facoltà di Medicina e Chirurgia, Università degli Studi, Milano

Biochimica Clinica: 2010;34(1):19-25 [Article in english]

ABSTRACT. In this review an update of the contribution of Laboratory Medicine to the diagnosis and monitoring of pancreatic disease is given. Today, laboratory tests not only play a pivotal role in the diagnosis of acute pancreatitis, but also may help to assess the disease severity and its etiology. In the diagnosis of acute pancreatitis lipase measurement in serum is superior to (P-type) amylase in terms of cost-effectiveness and diagnostic performance. Laboratory is also important in detection and monitoring of pancreatic insufficiency (by elastase-1 and chymotrypsin) and in monitoring of pancreatic cancer (by carbohydrate antigen 19.9).

La misura delle catene leggere libere delle immunoglobuline nel siero: aspetti analitici e clinici

Riccardo Albertini, Giampaolo Merlini*

*Laboratorio di Analisi Chimico Cliniche e Laboratori Sperimentali di Ricerca di Biotecnologie, Fondazione IRCCS Policlinico San Matteo, Dipartimento di Biochimica, Università degli Studi, Pavia

Biochimica Clinica: 2010;34(1):26-29 [Article in italian]

ABSTRACT. Determination of free light chains in serum: analytical and clinical aspects. The measurement of serum free light chains (FLC) is thoroughly used in the evaluation of monoclonal gammopathies. However, the FLC assay presents some analytical issues that should be taken into account in the interpretation of results. International guidelines have been formulated for the appropriate use of the FLC assay in clinical practice. The combination of all the available analytical tools, including serum and urine electrophoresis and immunofixation and the FLC assay, provides the best diagnostic sensitivity in different clinical settings.

Metodo cinetico diretto per la determinazione della creatinina nei liquidi biologici

L. Prencipe

Ospedale Maggiore Cà Granda, Laboratorio di Biochimica, Milano

Biochimica Clinica: 2010;34(1):30-43 [Article in italian]

ABSTRACT. Direct kinetic method for determining creatinine in biological fluids. A rapid reaction rate method for the kinetic assay of creatinine in serum and urine is described. The method is based on Jaffè reaction and does not require deproteinization: serial determinations can be performed at a rate of about 50 specimens per hour. A rigorous control of pH, and a suitable protein content are essential for reliable results. For serum assays, a standard creatinine solution with a protein content similar to that of serum is required: the value of a blank obtained on a similar protein solution without creatinine must be subtracted. A delay of 15 seconds after the start of the reaction is required to suppress the interference of such fast-reacting as aceto-acetate. Linear results are obtained for concentrations of creatinine up to 15 mg/100 ml. Interference are negligible, and analytical results show an excellent correlation with those obtained after isolation of creatinine by absorption on a cation exchange resin. Recovery of added creatinine is about 100%.

Analisi delle popolazioni e sottopopolazioni linfocitarie, delle cellule staminali e delle cellule dendritiche su sangue periferico in pazienti ustionati

Vincenza Tortorici*, Claudio Rizzo, Lorena Angileri, Nicola D’Arpa, Francesco Conte, Guido Pagnucco, Francesco Gervasi
*U.O. Ematologia con Trapianto Midollo Osseo, Palermo

Biochimica Clinica: 2010;34(1):44-48 [Article in italian]

ABSTRACT. Characterization of lymphocytic populations and subpopulations, stem cells and circulating dendritic cells in burned patients. The purpose of this study was to quantify in peripheral blood the dendritic cells (DC), compared with the immune response to the infectious injury under extensive burns of the human body, highlighting the role of DC as clinical biomarkers in burn. We evaluated the profile of myeloid and plasmocytoid DC, the lymphocyte populations (T-B-NK), regulatory T cells (T-reg) and circulating stem cells in healthy subjects, and compared results with burned subjects evolving toward the sepsis. 12 burned patients and 17 healthy controls were studied. The patients were differentiated with reference to fact that they evolved toward sepsis or not. In patients with sepsis we discovered an increase of DC lineage- HLA-DR+ (LIN-DR+), CD209+, hematopoietic stem cells (CD34+) and TCRγδ T lymphocytes. These changes could indicate the immunologic response that burned patients activate during an infectious process.

La tecnologia del microchip: una strategia avanzata per la caratterizzazione molecolare delle mutazioni più frequentemente associate a craniostenosi

Stefania Stenirri*, Emanuela Castiglioni, Gabriella Restagno, Giovanni Battista Ferrero, Lorenzo Genitori, Maurizio Ferrari, Laura Cremonesi
*Unità di Genomica per la Diagnostica delle Patologie Umane, Istituto Scientifico San Raffaele, Milano

Biochimica Clinica: 2010;34(1):49-55 [Article in italian]

ABSTRACT. Microchip technology: an advanced strategy for molecular characterization of prevalent mutations involved in craniosynostosis. Craniosynostosis, the premature fusion of one or more sutures of the skull, is a very heterogeneous group of disorders, in the etiology of which genetics play an important role. Considered as one of the most common congenital defect, it occurs with a prevalence of 1 out 2500 live births. Untreated progressive craniosynostosis leads to inhibition of brain growth and increased intracranial and intraorbital pressure. Due to the high heterogeneity of phenotypic expressions, molecular characterization of genes of interest may be very helpful in establishing a more accurate diagnostic evaluation. For the identification of 10 common mutations (S252W, P253R, F276V, C278F, C342R, C342Y, C342S, A344P, S347C e P250R) in fibroblast growth factor receptor 2 (FGFR2) and fibroblast growth factor receptor 3 (FGFR3) genes, we developed a microelectronic microchip assay. We set up conditions for polymerase chain reaction (PCR) multiplexing format coupled with serial addressing of the PCR products and serial probe hybridization for mutations in the FGFR genes. Analytical protocols for the detection of each mutation were optimized. The final version of the craniosynostosis microchip allowed the identification of all the mutations in FGFR2 and FGFR3 genes on a single pad per patient. The analysis was performed in a cohort of 159 patients with various craniosynostosis syndromes. The microchip strategy allows a rapid and specific identification of the common mutations of FGFR genes involved in craniosynostosis. The precocious molecular characterization of these genes in newborns or infants represents an effective tool for the medical and surgical management of these anomalies.