8 research outputs found

    Investigation of the PGNAA using the LaBr3 scintillation detector

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    The Joint Research Centre of the European Commission develops instrumentation for detection of hazardous materials. In relation to this a new experimental facility was constructed for research into methods applying the detection of characteristic gamma rays subsequent to neutron irradiation. This includes the detection of prompt gamma rays from neutron inelastic scattering and neutron capture. For this purpose the device employs LaBr3 scintillation detectors. The paper investigates the applicability of the LaBr3 scintillation detector to PGNAA.JRC.E.8-Nuclear security (Ispra

    Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

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    Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson–Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age. INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR. Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR. Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4). The fifth patient with congenital SIR died when 14 months old. Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively. Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation. We conclude that renal abnormalities resembling antenatal Bartter’s syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR

    Polyomaviruses shedding in stool of patients with hematological disorders: detection analysis and study of the non-coding control region’s genetic variability

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    Fragmented data are available on the human polyomaviruses (HPyVs) prevalence in the gastrointestinal tract. Rearrangements in the non-coding control region (NCCR) of JCPyV and BKPyV have been extensively studied and correlated to clinical outcome; instead, little information is available for KIPyV, WUPyV and MCPyV NCCRs. To get insights into the role of HPyVs in the gastrointestinal tract, we investigated JCPyV, BKPyV, KIPyV, WUPyV and MCPyV distribution among hematological patients in concomitance with gastrointestinal symptoms. In addition, NCCRs and VP1 sequences were examined to characterize the strains circulating among the enrolled patients. DNA was extracted from 62 stool samples and qPCR was carried out to detect and quantify JCPyV, BKPyV, KIPyV, WUPyV and MCPyV genomes. Positive samples were subsequently amplified and sequenced for NCCR and VP1 regions. A phylogenetic tree was constructed aligning the obtained VP1 sequences to a set of reference sequences. qPCR revealed low viral loads for all HPyVs searched. Mono and co-infections were detected. A significant correlation was found between gastrointestinal complications and KIPyV infection. Archetype-like NCCRs were found for JCPyV and BKPyV, and a high degree of NCCRs stability was observed for KIPyV, WUPyV and MCPyV. Analysis of the VP1 sequences revealed a 99% identity with the VP1 reference sequences. The study adds important information on HPyVs prevalence and persistence in the gastrointestinal tract. Gastrointestinal signs were correlated with the presence of KIPyV, although definitive conclusions cannot be drawn. HPyVs NCCRs showed a high degree of sequence stability, suggesting that sequence rearrangements are rare in this anatomical site

    Use of rituximab in a multicentre cohort of patients with rheumatic diseases during the outbreak of novel SARS-COV-2 infection

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    none24noneBatticciotto, Alberto; Marotto, Daniela; Giorgi, Valeria; Balzarini, Patrizia; Favalli, Ennio Giulio; Balduzzi, Silvia; Fredi, Micaela; Bazzani, Chiara; Sartorelli, Silvia; Ravagnani, Viviana; Tamanini, Silvia; Castelnovo, Laura; Lurati, Alfredo Maria; Farah, Sonia; Bongiovanni, Sara; Caporali, Roberto; Dagna, Lorenzo; Faggioli, Paola; Franceschini, Franco; Montecucco, Carlo Maurizio; Salaffi, Fausto; Galli, Massimo; Cappelli, Antonella; Sarzi-Puttini, PiercarloBatticciotto, Alberto; Marotto, Daniela; Giorgi, Valeria; Balzarini, Patrizia; Favalli, Ennio Giulio; Balduzzi, Silvia; Fredi, Micaela; Bazzani, Chiara; Sartorelli, Silvia; Ravagnani, Viviana; Tamanini, Silvia; Castelnovo, Laura; Lurati, Alfredo Maria; Farah, Sonia; Bongiovanni, Sara; Caporali, Roberto; Dagna, Lorenzo; Faggioli, Paola; Franceschini, Franco; Montecucco, Carlo Maurizio; Salaffi, Fausto; Galli, Massimo; Cappelli, Antonella; Sarzi-Puttini, Piercarl
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