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BC: Articoli scritti da M. Mussap

Il ruolo della metabolomica nella diagnosi e nel monitoraggio delle malattie metaboliche ereditarie
Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.
M. Mussap  |  M. Zaffanello  |  V. Fanos  | 
<p>Timely newborn screening and genetic profile are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomics in the clinical biochemistry and laboratory medicine communities, several research groups have focused their interest the analysis of metabolites and their interconnections in IEMs. Metabolomics has the property to extend metabolic information leading to achieve an accurate diagnosis for an individual patient and to discover novel IEMs. Structural and functional information on 247 metabolites associated with 147 IEMs and 202 metabolic pathways involved in various IEMs have been reported in the human metabolome data base (HMDB). For each metabolic gene, a new computational approach can be developed for predicting a set of metabolites that are expected to change their concentration in urine, blood and other biological fluids after gene knockout. Both the targeted and the untargeted mass spectrometry (MS)-based metabolomic approaches have been used to expand the range of disease-associate metabolites. The quantitative targeted approach, in conjunction with chemometrics, can be considered a basic tool for validating known diagnostic biomarkers in various metabolic disorders. The untargeted approach increases the identification of new biomarkers in known IEMs and allows pathways analysis. Urine is an ideal biological fluid for metabolomics in neonatology; however, the lack of standardization of the preanalytical phase may originate potential interferences in metabolomic studies. Integrating genomic with metabolomic data represents the current challenge for improving diagnosis and prognosis of IEMs. The goals consist of the identification of both metabolically active loci and genes relevant to a disease phenotype, that means deriving disease-specific biological insights.</p>
Biochimica Clinica ; 43(1) 014-023
Rassegne - Reviews
 
Documento di consenso SIBioC e Società Italiana di Radiologia Medica (SIRM) sulla richiesta di esami di laboratorio per la valutazione del danno renale da mezzi di contrasto
SIBioC-SIRM consensus document on the request of laboratory tests for evaluation of contrast media nephrotoxicity
<p>The contrast media, widely used in imaging diagnostics, show a favorable safety profile. As the&#160;presence of pre-existing disease is considered a risk factor for adverse events, patients should be carefully evaluated&#160;prior to the procedure. The aim of this consensus document is to recommend appropriate biochemical tests to be&#160;performed for an early recognition of individuals at higher risk of contrast media nephrotoxicity. This condition is defined&#160;by an increase of serum creatinine concentrations of at least 0.50 mg/dL and/or 25% within 3-4 days from contrast media&#160;exposure. The most important risk factor is renal insufficiency [estimated glomerular filtration rate (eGFR) &lt;60&#160;mL/min/1.73 m<sup>2</sup> or serum creatinine &gt;1.50 mg/dL]. Other risk factors are age &gt;75 years, dehydration, diabetes, heart&#160;failure and anemia. Monoclonal gammopathies, multiple myeloma, Waldenstr&#246;m macroglobulinemia and amyloidosis&#160;are not considered risk factors per se. On the basis of available guidelines, it is recommended: a) prior to the&#160;examination, to measure serum creatinine baseline with a method traceable to the international reference measurement&#160;system and report its concentration together with the eGFR using the Chronic Kidney Disease &#8211; Epidemiology&#160;Collaboration (CKD-EPI) equation; b) for monitoring, to measure serum creatinine more than once calculating the delta&#160;from the baseline value: if serum creatinine increases &gt;5%, repeat the test within 48-72 h. Performing of laboratory tests&#160;to exclude the presence of monoclonal gammopathies (i.e., serum protein electrophoresis, Bence Jones protein&#160;determination, serum free light chain measurements) is not required.</p>
Biochimica Clinica ; 38(2) 139-142
Documenti SIBioC - SIBioC Documents
 
Il contributo della diagnostica proteica nella gestione delle gammopatie monoclonali
Protein diagnostics in the management of monoclonal gammopathies
<p>This document examines laboratory tests&nbsp;to be used for the management of monoclonal gammopathies in different clinical scenarios, from screening to&nbsp;monitoring and assessment of the response to therapy. The content is based on international recommendations and&nbsp;guidelines currently available. It includes sections on the analytical aspects of different tests&nbsp;(serum&nbsp;protein&nbsp;electrophoresis, typing and quantification of monoclonal components, Bence Jones protein determination and free&nbsp;light chain measurement) and on their clinical significance as well. Different clinical settings are examined: screening,&nbsp;diagnosis, risk stratification, monitoring and response assessment. For each of those, laboratory tests to be used are&nbsp;indicated. Aim of the document is to help clinical laboratories avoiding unnecessary tests, ensuring in the meantime&nbsp;that all the investigations required for a optimal patient management are carried out.</p>
Biochimica Clinica ; 38(1) 47-53
Documenti SIBioC - SIBioC Documents
 
Razionale e prospettive della determinazione delle catene leggere libere del siero nelle patologie infiammatorie croniche
Rationale and prospects of serum immunoglobulin free light chain (FLC) determination in chronic inflammatory disease
U. Basile  |  M. Mussap  | 
<p>The development of serum assays for free FLC <span style="font-family:symbol">k</span> and<span style="font-family:symbol"> l</span> has opened the door to new&nbsp;applications increasing their clinical importance beyond monoclonal gammopathies and plasma cell dyscrasias. In&nbsp;particular, the availability of these tests may open new prospects for diagnosing and managing various diseases&nbsp;characterized by chronic inflammation, namely autoimmune disease, allergic disease, viral infections, inflammatory&nbsp;disorders of the central nervous system and others. For most of these diseases, serum polyclonal FLC concentrations&nbsp;correlate with disease activity, being a potential useful index for adjusting therapeutic regimens. The aim of this review&nbsp;is to summarize current available data from the literature and to analyze the possible role of FLC in improving the&nbsp;clinical management of patients with chronic inflammatory disorders.</p>
Biochimica Clinica ; 37(5) 357-364
Rassegne - Reviews
 
Il controllo della spesa nel laboratorio clinico: dall’emergenza dei tagli alla creazione di modelli di risparmio basati sul miglioramento delle cure
Expenditure control in clinical laboratories: from urgent cuts to creation of models to save costs based on the improvement of patient outcome
M. Mussap  | 
<p>The pressure for expenditure containment and the progressive reduction in&nbsp;available healthcare resources has led to abrupt cuts in hospital budgets, generating, in turn, downsized operations&nbsp;in the provision of medical services, including laboratory ones. These short term strategies are oriented by policy&nbsp;maker and health care manager purposes often neglecting appropriateness, effectiveness, quality improvement and,&nbsp;ultimately, impact on patient outcome. With the objective to reduce costs, diagnostic products are evaluated by the&nbsp;key criterion of &lsquo;cost-per-test&rsquo;, like buying household consumables, e.g. soaps, towels, etc. In this way, healthcare&nbsp;managers aim to downsize expenditures very quickly, with the assumption of no apparent negative impact on patient&nbsp;outcome. There is a need to introduce new rules, criteria and indicators to favor a quality-oriented selection. Industry&nbsp;competitors on the market should present not only a project specifically tailored to the laboratory organization, but&nbsp;also a well-structured strategic plan. This would facilitate laboratory professionals in evaluating the industry ability to&nbsp;share goals, responsibilities and management with a clinical laboratory organization, ensuring the best efficiency,&nbsp;effectiveness and cost savings. Of course, this should happen with a contemporaneous improvement in the expertise&nbsp;of clinical laboratory professionals.</p>
Biochimica Clinica ; 37(4) 287-291
Opinioni - Opinions