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Articoli in pubblicazione

Ricordo di Carlo Franzini
In memory of Carlo Franzini
Biochimica Clinica
Pubblicato online il: 15.05.2017
Editoriale - Editorial
 
Aggiornamenti in tema di diagnostica della carenza di ferro
Update on diagnostics of iron deficiency

Iron deficiency and iron deficiency anemia are common worldwide, affecting prevalently young people and women because of the high iron demand during growth and fertile age. The main causes of iron deficiency in developing countries are inappropriate dietary iron intake and blood loss due to intestinal worm colonization, while, in western countries, common causes as unbalanced diet and pathologic conditions, such as malabsorption and chronic blood loss prevail. Erythropoietin administration, stimulating erythropoiesis, may cause functional iron deficiency in the erythroid compartment, despite adequate iron stores. Iron deficient anemia, in general easy to diagnose, should be also cause-diagnosed for adequate therapy. The diagnosis of iron deficiency in chronic inflammatory conditions is more difficult. The soluble transferrin receptor/ferritin logarithm ratio and serum hepcidin concentrations have been proposed as potential markers of iron deficiency in inflammation. Oral iron salt administration improves iron deficiency in many cases, since hepcidin reduction allows efficient iron absorption, but side effects of oral treatment reduce its efficacy and may require parenteral iron administration.

TAG: ferro   anemia   carenza di ferro  
Biochimica Clinica
DOI: 10.19186/BC_2017.019
Pubblicato online il: 08.05.2017
Rassegne - Reviews
 
Trombocitosi e rischio trombotico nelle neoplasie mieloproliferative
Thrombocytosis and risk of thrombosis in myeloproliferative neoplasms

In patients with polycythemia vera (PV) and essential thrombocythemia (ET), two Philadelphia chromosome–negative myeloproliferative neoplasms (MPN), thrombotic events are frequent and represent the main cause of morbidity and mortality. Patients with MPN can be stratified in thrombotic risk categories according to age and history of thrombosis. Patients older than 60 years or with a history of thrombosis are considered at high-risk. Recently, new developments have brought to a further subcategorization of patients who are not at high risk in the “intermediate” and “low-risk” categories, depending on the presence or absence of JAK2V617F mutation and/or cardiovascular risk factors. Thrombocytosis is typical of these diseases, particularly of ET, but its role in the pathogenesis of thrombotic events is still controversial. So far, no study has demonstrated a statistically significant correlation between platelet count and thrombosis in either PV or ET patients. Paradoxically, extreme thrombocytosis (i.e., platelets >1500×109/L) is rather associated with hemorrhagic manifestations in patients with ET. Recent biological studies of circulating thrombotic markers performed to characterize the presence of a hypercoagulable state in patients with MPN have shown that platelet qualitative abnormalities, more than platelet count, are associated with hypercoagulability in these patients. Particularly, studies have demonstrated that platelets circulate in an activated status and possess a high prothrombotic potential. These findings suggest that in these diseases the control of platelet activation over the platelet count is an important goal of treatment strategies.

Biochimica Clinica
DOI: 10.19186/BC_2017.021
Pubblicato online il: 09.05.2017
Rassegne - Reviews
 
Il ruolo del laboratorio di citogenetica in oncoematologia
The role of cytogenetic laboratory in the hemato-oncologic disorders
U. Giussani  |  A. Pansa  | 

Conventional cytogenetic studies provide a global overview of acquired genetic changes in hematological malignancies. Some specific cytogenetic abnormalities are closely, sometimes uniquely, associated with morphological and clinical distinct subsets of leukemia or lymphoma, as well as with their prognosis. Fluorescence in situ hybridization and comparative genomic hybridization array have improved the power of cytogenetic analysis and are used as a complementary tool in the definition of chromosomal aberrations. The innovative technical advances in the field of genetics, especially the deep-sequencing technique, has brought to new insights in carcinogenesis and to the discovery of new cancer genes, becoming a powerful tool for diagnostic and therapy of hematologic malignancies. Genetic testing plays today a crucial role in the diagnostic process: it helps to classify disease in specific entities, it provides predictive information and it can be used for clinical management and therapy. The goal of the cytogenetic laboratory is to apply the proper strategies, depending on the clinical question and disease phase (presentation, monitoring, relapse).

Biochimica Clinica
DOI: 10.19186/BC_2017.024
Pubblicato online il: 11.05.2017
Rassegne - Reviews
 
Indagine conoscitiva su matrice biologica e gestione della fase preanalitica nei laboratori clinici
Indagine conoscitiva su matrice biologica e gestione della fase preanalitica nei laboratori clinici

The vast majority of biochemistry tests is traditionally performed using either serum or heparinized plasma. Since little information is available on organization of clinical chemistry areas and type of biological samples used for this type of testing, the SIBioC Study Group on Extra-analytical variability planned a survey to be delivered to the members of the society. The questionnaire, consisting of 10 questions, was delivered by two newsletters and published on the SIBioC website for one month. Overall, 229 replies were collected from ~3000 society members. The most relevant aspect emerged from the survey was that serum not only was the most common biological matrix used for clinical chemistry tests (82% of responders), but it was also regarded as the ideal biological matrix (76% of responders). In 80% of cases, clinical chemistry testing was performed using blood collected in tubes containing a separator. Unlike ordinary testing, urgent analyses were performed using serum only in 58% of cases. The use of blood tubes with separator was also more frequent for urgent chemistry testing (64% of responders). A physical integration between clinical chemistry instruments was reported in approximately half of cases, whereas integration with preanalytical modules was reported to be slightly lower (45% of responders). The availability to change the biological matrix by the majority of responders demonstrates a substantial awareness that a major degree of harmonization should be pursued in the preanalytical phase.

TAG: fase preanalitica   armonizzazione   raccolta sangue  
Biochimica Clinica
DOI: 10.19186/BC_2017.018
Pubblicato online il: 08.05.2017
Contributi scientifici - Scientific papers
 
Accuratezza dell’immunonefelometria come metodo di screening per la determinazione della proteinuria di Bence Jones
Accuracy of immunonephelometry as a screening method for Bence Jones proteinuria

The Bence Jones protein (BJP) is an important biomarker for the identification and management of patients with plasma cell dyscrasia. The recommended method for BJP detection is the immunofixation, which is a time consuming and expensive procedure. The aim of the study was to evaluate immunonephelometry (INA) as a screening method for the identification of urine samples negative for BJP and to compare it to a simplified immunofixation method (uIFE-3). First morning urine samples were collected from 1000 consecutive patients and analyzed by INA. Samples with free light chain concentrations >10 mg/L and >5 mg/L were considered positive. All samples were further analyzed by uIFE-3 using 3 antisera (anti-GAM, -κ and -λ). The INA results (at both cut-off levels) were compared with the uIFE-3, showing a poor accuracy due to the high number of false positives and false negatives. Consequently, INA resulted unable to accurately screen BJP.

TAG: gammopatia monoclonale   biomarcatori   catene leggere libere urinarie  
Biochimica Clinica
DOI: 10.19186/BC_2017.020
Pubblicato online il: 08.05.2017
Contributi scientifici - Scientific papers
 
Analisi dei profili della troponina T cardiaca ottenuti con spettrometria di massa MALDI nel siero di soggetti sani e malati
Analysis of serum cardiac troponin T profiles obtained by MALDI mass spectrometry in healthy and diseased subjects
B. Rampoldi  |  R. Rigolini  |  E. Costa  |  C. Fania  | 

Acute myocardial infarction (AMI) is a leading cause of morbidity and mortality worldwide. Cardiac troponin I and T (cTnT) represent the most sensitive and specific markers for the diagnosis and prognosis of myocardial injury. Technological advancements have made possible to develop a new generation of high sensitive assays able to early identify the myocardial injury. The objective of this study was to analyze sera from healthy controls (n=10; cTnT<14 ng/L; group A), patients with cTnT ranging from 14 ng/L to <50 ng/L (n=10; group B) and AMI patients (n=11; cTnT >50 ng/L; group C), by MALDI mass spectometry to identify specific profiles discriminating patients from controls. MALDI spectra showed different serum low-abundant low molecular protein profiles in the 3 analyzed groups. In particular, 6 dysregulated peaks (P-value <0.05) discriminate group B from C.

Biochimica Clinica
DOI: 10.19186/BC_2017.017
Pubblicato online il: 08.05.2017
Contributi scientifici - Scientific papers
 
False negative results in urinary cocaine drug testing
M. Agostini  |  C. Renzoni  |  D. Melita  | 

Cocaine is the most used illicit stimulant in Europe, but there is often a mismatch between actual cocaine consumption and the number of positive samples in urinary test. In this contest, the choice of the optimal cut-off value for the analytic method plays a key role. We reanalyzed 243 urine samples by ultra HPLC-tandem mass spectrometry (UHPLC-MSMS) that previously resulted negative to cocaine immunoassay test (cut-off value >300 μg/L) to identify the presence and amount of cocaine metabolites, estimate the number of false negative results and verify the adequacy to the current urinary cut-off. 131 samples (53,9%) showed the presence of benzoylecgonine in concentrations >3 μg/L. Only in 5 samples out of 99 with screening values >46 μg/L benzoylecgonine was not detected by UHPLC-MSMS, while in all samples with screening value >73 μg/L the presence of cocaine metabolites was confirmed. Our results indicate that the current screening cut-off could be lowered without loss of specificity, resulting in the reduction of false negative and in increased sensibility and detection time.

TAG: UHPLC-MS/MS   cocaina   CEDIA   cut-off  
Biochimica Clinica
DOI: 10.19186/BC_2017.025
Pubblicato online il: 11.05.2017
Contributi scientifici - Scientific papers
 
Intervalli di riferimento standardizzati della fosfatasi alcalina sierica in soggetti pediatrici
Traceable reference intervals for alkaline phosphatase in serum of pediatrics

The definition of pediatric reference intervals for alkaline phosphatase (ALP) in serum represents a challenging task due to the high and variable concentrations of this enzyme in children compared to adults. Aim of this work was the establishment of ALP pediatric reference intervals in an Italian population using an indirect method and traceable assays for ALP measurements. A data mining approach involving 12 centers was applied. To verify the analytical quality of the participating centers, 3 pools with ALP target values established by the reference procedure were distributed and analyzed by the centers at the beginning and at regular intervals during the data collection period (May-September 2016). When needed (deviation from target >2%), the results obtained on the 3 pools were used to recalculate ALP results of reference individuals, thus making them traceable to the reference procedure. Each center selected from its database the ALP results of outpatients, aged 0-20 years, excluding those from oncological or orthopedic clinics and the results from subjects that repeated the test more than once. Very high and very low ALP values were investigated for excluding liver, kidney or bone disease. The results were elaborated with a modification of the algorithm proposed by Concordet et al. 4824 ALP values were collected (2372 from females and 2452 from males, respectively). The lower reference limit was the same for boys and girls <12 years old (140 U/L), reaching down the adult concentrations at 16 years for females and 18 years for males. The pubertal peak was at 9-11 years for females (430 U/L) and 12-14 years for males (465 U/L).

TAG: Valori di riferimento   fosfatasi alcalina   pediatria  
Biochimica Clinica
DOI: 10.19186/BC_2017.016
Pubblicato online il: 08.05.2017
Contributi scientifici - Scientific papers
 
Le revisioni della letteratura biomedica
The reviews of the biomedical literature

The reviews of the biomedical literature aim to summarize and disseminate the knowledge about a specific topic intended as a disease treatment or a diagnostic biomarker. They include narrative and systematic reviews (SR). Narrative reviews simply describe the features about a specific topic. On the contrary, SR are performed to answer to a specific question by using a standardized methodology to obtain results that may be reproduced by other authors. SR may include studies of diagnostic or therapeutic efficacy and prognostic value according to the scope. SR of treatment efficacy are generally focused on the efficacy of a new treatment in comparison with the one considered as reference, commonly used in the clinical therapeutic protocols. SR focused on diagnostic test accuracy generally retrieve data on diagnostic sensitivity and specificity from original studies in order to estimate pooled likelihood ratios or predictive values. Finally, SR of prognostic studies explore the ability of a specific marker to predict the outcome of interest. A SR implies to plan a systematic literature search strategy by Medline and other biomedical databases, defining inclusion criteria for study selection. Statistical analyses allow to pool data in a meta-analysis to provide an estimates of the effect power. This paper summarize the main features of different type of SR to help readers in the comprension of a SR and meta-analysis. Their utility in clinical practice and biomedical research is also illustrated.

TAG: letteratura biomedica   revisioni sistematiche   banche dati  
Biochimica Clinica
DOI: 10.19186/BC_2017.023
Pubblicato online il: 10.05.2017
Documenti - Documents
 
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

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 “highly recommended”, 2 “recommended in specific conditions” and 3 identified “highly discouraged” tests. The results of the questionnaire are shown as mean (±SD) of individual responses, thus allowing to define a scale of priority comprised between “highly recommended” and “highly discouraged”. Overall, 24 tests were classified as “highly recommended”, whereas 6 were “highly discouraged”. The remaining 16 tests were classified as “somehow recommended” or “somehow discouraged”. In the expectations of the two societies, this document may represent a first step towards harmonizing the laboratory test ordering in Italian EDs.

TAG: fase preanalitica   armonizzazione   raccolta del sangue   provette  
Biochimica Clinica
DOI: 10.19186/BC_2017.014
Pubblicato online il: 29.03.2017
Documenti SIBioC - SIBioC Documents
 
Validazione per l’impiego clinico delle determinazioni di emoglobina ed ematocrito sull’emogasanalizzatore GEM Premier 4000
Validation of clinical use of hemoglobin and hematocrit measurements on GEM Premier 4000 blood gas analyzer
TAG: emogasanalisi   ematocrito   emoglobine  
Biochimica Clinica
DOI: 10.19186/BC_2017.015
Pubblicato online il: 13.04.2017
Lettere all'Editore - Letters to the Editor
 
In ricordo di un grande Amico e Maestro
In memory of Carlo Franzini
Biochimica Clinica
Pubblicato online il: 15.05.2017
Notizie SIBioC - SIBioC News
 
In ricordo di Silvana Penco
In memory of Silvana Penco
Biochimica Clinica
Notizie SIBioC - SIBioC News
 
Conteggio e contenuto di emoglobina reticolocitario in un caso di grave anemia
Reticulocyte count and hemoglobin content in a case of severe anemia

A 4 years old child from Sry Lanka was admitted in our hospital after several blood transfusions for severe anemia in her country. Very low hemoglobin (65 g/L) and ferritin (<1 ng/mL) concentrations were detected, consistent with iron deficiency anemia. The reticulocyte count and the hemoglobin content (Ret-He) were low (49,20x109/L and 13.7 pg respectively). An important number of causes of iron deficiency anemia were excluded. The patient was treated with iron infusion for two weeks, with good recovery of hemoglobin levels iron stores, Ret-He and reticulocyte number. The patient was then treated with oral iron supplementation, but a considerable decrease of Ret-He and reticulocyte count was observed, so the infusive therapy was reintroduced. Diagnosis and treatment were optimized by the synergy between the clinical laboratory and pediatricians, utilizing these hematological parameters. The blood transfusions could thus be stopped and the bone marrow biopsy could be avoided. This case demonstrates the importance of the reticulocyte count and the Ret-He in the management of iron deficiency anemia.

Biochimica Clinica
DOI: 10.19186/BC_2017.022
Pubblicato online il: 09.05.2017
Casi clinici - Case report
 
Utilità della spettroscopia all’infrarosso per l’analisi dei calcoli urinari
Usefulness of infrared spectroscopy for stone analysis: a case study

A 22-year-old male with recurrent bilateral stone disease and positive family history for stones was referred in March 2015 to the Metabolic Stone Clinic of the Policlinico Gemelli Hospital; a metabolic assessment revealed a number of abnormalities including hypercalciuria, hypocitraturia and abnormally high fasting urine pH. The previously expelled urinary calculus was sent to the clinical laboratory for the biochemical analysis by the infrared method. Fourier transform infrared spectroscopy (FT-IR) analysis identifying brushite and carbapatite, together with the finding of high urine pH, raised the suspicion of distal renal tubular acidosis which was subsequently confirmed by the urinary acidification test. The semiquantitative method of stone composition analysis would have yielded a mixture of calcium, ammonium, phosphate and magnesium, thus likely directing the diagnostic work-up, together with the abnormally high urine pH, towards infectious stones (e.g., by urease-producing bacteria). The information obtained by FT-IR analysis allowed clinicians to correctly hypothesize a urinary acidification deficit, which was subsequently treated with potassium citrate supplements.

TAG: spettroscopia   infrarosso   calcoli   urinari  
Biochimica Clinica
DOI: 10.19186/BC_2017.026
Pubblicato online il: 11.05.2017
Casi clinici - Case report