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Quarello P.,Paediatric Onco Haematology | Garelli E.,University of Turin | Carando A.,University of Turin | Mancini C.,University of Turin | And 9 more authors.
British Journal of Haematology | Year: 2016

Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool. © 2016 John Wiley & Sons Ltd. Source

Randi M.L.,University of Padua | Geranio G.,University of Padua | Bertozzi I.,University of Padua | Micalizzi C.,Gaslini Institute | And 18 more authors.
British Journal of Haematology | Year: 2015

Summary: Sporadic essential thrombocythaemia (ET) is rare in paediatrics, and the diagnostic and clinical approach to paediatric cases cannot be simply copied from experience with adults. Here, we assessed 89 children with a clinical diagnosis of ET and found that 23 patients (25·8%) had a clonal disease. The JAK2 V617F mutation was identified in 14 children, 1 child had the MPL W515L mutation, and 6 had CALR mutations. The monoclonal X-chromosome inactivation pattern was seen in six patients (two with JAK2 V617F and two with CALR mutations). The other 66 patients (74·2%) had persistent thrombocytosis with no clonality. There were no clinical or haematological differences between the clonal and non-clonal patients. The relative proportion of ET-specific mutations in the clonal children was much the same as in adults. The higher prevalence of non-clonal cases suggests that some patients may not have myeloproliferative neoplasms, with significant implications for their treatment. © 2015 John Wiley & Sons Ltd. Source

Fournel I.,Epidemiology Unit | Sautour M.,Parasitology and Mycology Laboratory | Lafon I.,Clinical Hematology Unit | Sixt N.,Parasitology and Mycology Laboratory | And 8 more authors.
American Journal of Infection Control | Year: 2010

Background: The Dijon University Hospital in Dijon, France is involved in a large construction program with heavy truck traffic and a very dusty environment. This study aimed to assess the impact of outdoor hospital construction work on Aspergillus air contamination in the immediate environment of patients at high risk for aspergillosis in the presence of protective measures. Methods: Prospective air and surface sampling (n = 1301) was performed in 3 hospital units over a 30-month period. Generalized estimating equations were used to test the relationship between Aspergillus air contamination and the different variables (construction period, air treatment system, and surface contamination). Results: Positivity rates of Aspergillus spp varied from 21.1% before construction work to 16.9% during work for air samples (P = .07), and the associated mean fungal load varied from 1.21 colony-forming units (CFU)/m3 to 0.64 CFU/m3 (P = .04). In multivariate analysis, only the use of an air treatment system was associated with decreased airborne Aspergillus contamination (P < .0001). No significant difference was observed between the presence or absence of construction work and the proportion of airborne Aspergillus contamination (P = .91) or the Aspergillus fungal load (P = .10). Conclusions: No influence of hospital construction work on airborne Aspergillus contamination was demonstrated when protective measures were taken, including reinforcement of the importance of environmental cleaning. © 2010 Association for Professionals in Infection Control and Epidemiology, Inc. Source

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