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Maria Stella Graziani

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Martina Zaninotto

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Ferruccio Ceriotti
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Giampaolo Merlini
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Matteo Vidali

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Francesco Busardò

International Advisory Board Khosrow Adeli Canada
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Giuseppe Agosta

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da R. Carrozza

La misura delle catene leggere libere e i recenti criteri diagnostici del mieloma multiplo
The free light chain measurement and the recent Multiple Myeloma diagnostic criteria
<p>In 2014, the International Myeloma Working Group updated the criteria for the diagnosis of Multiple Myeloma (MM), adding to the classic CRAB features (hypercalcaemia, renal failure, anemia, and bone lesions) a recently validated biomarker and recommended the implementation of this criterium in the routine practice. The biomarker is the ratio of involved to non-involved free light chain &ge;100, provided that the involved light chain is &ge;100 mg/L. We report the case of a man aged 68, referring to our Hematology Unit in March 2016 who was diagnosed with a monoclonal gammopathy of undetermined significance since 2009. Serum protein electrophoresis and immunofixation were performed, along with serum free light chain (sFLC) quantification. During the follow-up, despite the small peak entity, the sFLC kappa concentration was very high (3684 mg/L; reference interval 3.3-19.40) with an abnormal sFLC ratio (304; reference interval 0.26-1.65). At that stage, the patient did not show any signs of CRAB features, however a drug treatment was started. For months later, a magnetic resonance revealed a numer of lytic lesions. This case underlines the crucial role of sFLC in the management of patients with plasmacell dyscrasias and shows how sFLC ratio can induce early treatment before the development of major organ damage.</p>
Biochimica Clinica ; 42(3) e33-e36
Casi clinici - Case report
Utilità dell’elettroforesi urinaria come metodo di screening per la ricerca della proteina di Bence Jones
Utility of the urine electrophoresis as screening test for the detection of Bence Jones protein
<p>Urine immunofixation (uIFE) is the gold standard method to detect the Bence Jones protein (BJP), but is time consuming. We investigated if the urine protein electrophoresis (uEF) can be used to select samples to be immunofixed, verifying its diagnostic accuracy. During a 5-month period, we analyzed 993 urinary samples performing both uEF and uIFE on agarose gels. Two trained operators evaluated independently the gels comparing results of the two techniques. uEF was considered negative when no protein or only the albumin band were visible; any other pattern was classified as positive. 528 samples were negative and 272 were positive with both methods; 12 false negative results were observed with uEF, but only one of these showed a BJP quantification methods &gt;10 mg/L (the recommended sensitivity threshold). A positive predictive value of 60% and a negative predictive value of 97% were calculated for uEF. In order to evaluate the concordance with the uIFE, we calculated the Cohen&rsquo;s k coefficient: the results showed a moderate agreement with a Cohen&rsquo;s k coefficient of 0,594. uEF could be an alternative tool to facilitate the diagnostic pathway for the PBJ detection, provided that the technique is at high resolution and sensitive. In particular, uEF could be used as a first step test to select the samples to be immunofixed.</p>
Biochimica Clinica ; 41(3) 245-247
Contributi scientifici - Scientific papers
Mielopatia di incerto significato
A myelopathy of uncertain origin
<p>In November 2013, following a febrile episode lasting for one week, a 51-year-old&nbsp;male reported fatigue and increasing clumsiness and rigidity of lower limbs. Two months after the symptoms onset,&nbsp;neurological examination showed ataxic-spastic gait, diffuse accentuation of deep tendon reflexes with extensor&nbsp;plantar response and abolition of the abdominal reflexes. The clinical suspicion of an autoimmune para-infectious&nbsp;myelo-neuropathy, prompted us to a comprehensive clinical chemistry, hematology and autoimmunity work-up: the only&nbsp;pathological result was an IgG monoclonal gammopathy. Nerve conduction studies showed a very mild sensory&nbsp;neuropathy, while visual evoked potentials were abnormal. Contrast magnetic resonance imaging showed a contrastfree&nbsp;parenchymal C2 spinal cord lesion. Cerebrospinal fluid examination, obtained to rule out multiple sclerosis (MS),&nbsp;demonstrated a moderate barrier disruption without oligoclonal bands reaction. These features rule out MS suggesting&nbsp;Devic&#39;s disease (neuromyelitis optica). Additional serological testing to detect aquaporin-4 antibodies (NMO-IgG) was&nbsp;positive, underscoring the paramount importance of laboratory testing in this differential diagnosis.</p>
Biochimica Clinica ; 39(5) e13-e15
Casi clinici - Case report