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Maria Stella Graziani

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Martina Zaninotto

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Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
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Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
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Philippe Gillery France
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Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
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Giuseppe Agosta

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

BC: Articoli scritti da M. Rossini

Documento congiunto di SIBIOC, della Società Italiana dell’Osteoporosi, del Metabolismo Minerale e delle Malattie dello Scheletro (SIOMMMS), della Sezione Italiana della European Ligand Assay Society (ELAS), e della Associazione Medici Endocrinologi (AME)
Joint Document from: Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC), Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases (SIOMMMS), Italina Section of Ligand Assay (ELAS), Association of Endocrinolo
<p>Vitamin D, and its metabolites, have key roles in the functioning of virtually all tissues. Indeed, besides the unquestioned role in bone mineral metabolism, evidences have pointed out roles in inflammation and autoimmunity, skeletal muscle and cardiac function, neuromuscular communication. Therefore, vitamin D deficiency associates with&nbsp;rickets in the child, osteomalacia and increased risk of fracture in the adulthood and possibly with the increased risk<br />of other pathological conditions. In order to regulate the prescription of vitamin D supplementation (cholecalciferol, cholecalciferol/calcium salts, calcifediol) to the adult population, and consequently to contain the costs sustained by the National Health System, the Italian Medicine Agency (AIFA) has recently drafted the &ldquo;Nota 96&rdquo; identifying the categories of patients, based on the laboratory measurement of serum levels of 25(OH)D, that can benefit from the reimbursement of vitamin D therapy. If the &ldquo;Nota 96&rdquo;, AIFA has the merit to define rules in a field only sligtly regulated, several considerations emerged from its analysis. From an analytical point of view, the &ldquo;Nota 96&rdquo; does not consider the issues of reliability and reproducibility of 25(OH)D measurement and standardization of the units of measurement and reporting. On the clinical side, the &ldquo;Nota 96&rdquo; does not consider the epidemic vitamin D insufficiency/deficiency that needs an adequate preventive approach and, furthermore, beyond its roles, the agency indicates the clinical conditions for whom vitamin D prescription is allowed. This document analyses the content of &ldquo;Nota 96&rdquo; highlighting the points that need further evaluations and by giving possible different solutions; the document provides also recommendations on laboratory reporting of vitamin D measurements.</p>
Biochimica Clinica ; 44(4) 400-406
Documenti SIBioC - SIBioC Documents
Osteoporosi maschile e anafilassi da imenotteri
Male osteoporosis and hymenoptera venom anaphylaxis
<p>Mastocytosis is one of the rare causes of unexplained&nbsp;osteoporosis, above all in males. On the other hand, a strict association between severe systemic reactions after&nbsp;hymenoptera sting and mastocytosis was recently demonstrated. Here we report a case of unexplained severe&nbsp;osteoporosis with multiple vertebral fractures in a 48 years old male, which also suffered an anaphylactic reaction after&nbsp;hymenoptera sting. Among laboratory tests performed to clarify the cause of osteoporosis, serum tryptase&nbsp;concentrations were determined. The value of tryptase was 43.6 &mu;g/L, four times higher than the upper reference limit.&nbsp;Skin did not show abnormalities; bone marrow vertebral biopsy was not valuable, but bone marrow aspirate from iliac&nbsp;crest demonstrated the presence of atypical mast cells expressing CD25; D816V mutation of KIT gene was also&nbsp;identified. These findings, in association with an increase of serum tryptase concentrations, fulfil all minor criteria&nbsp;requested for the diagnosis of systemic mastocytosis. Osteoporosis treatment with zolendronate and vitamin D&nbsp;supplementation was started, but later, for the persistence of bone pain, therapy with -interferon was added. This case&nbsp;confirms that an unexplained osteoporosis, especially if associated with hymenoptera sting systemic reaction, requires&nbsp;exclusion of a systemic mastocytosis.</p>
Biochimica Clinica ; 38(4) 347-349
Casi clinici - Case report
La mastocitosi sistemica: un approccio multidiscliplinare
Systemic mastocytosis: a muldisciplinary approach
<p>Systemic mastocytosis (SM) is a clonal disorder with complex manifestations determined by the proliferation and accumulation of mast cells in various organs (mainly in skin and bone marrow) and by the release of soluble mediators. Indolent SM is the more frequent variant of the disease, but its actual prevalence is unknown as the majority of patients suffering from SM are misdiagnosed, particularly when skin lesions are absent. Anaphylactic reactions to Hymenoptera (and less frequently to drugs or foods), idiopatic anaphylaxis, unexplained osteoporosis, or unexplained gastrointestinal symptoms are common manifestations of SM in absence of skin involvement. Therefore, the diagnosis and management of patients with SM require a multidisciplinary approach, which encompasses hematological, allergological, dermatological, rheumatological, and gastroenterological evaluations. A correct and timely diagnosis is required for: a) adequate counseling of patients and their physicians; b) beginning of symptomatic treatment (antimediator therapy); c) prevention of more severe manifestations of the disease (i.e., recurrent anaphylaxis, osteoporosis, bone fractures). In this paper, the epidemiology, classification, diagnostic tools, clinical manifestations, and therapy of SM are reviewed and a guidance on multidisciplinary approach to SM is provided.</p>
Biochimica Clinica ; 36(3) 158-170
Rassegna - Reviews