University of Cagliari

About: University of Cagliari is a education organization based out in Cagliari, Italy. It is known for research contribution in the topics: Population & Dopamine. The organization has 11029 authors who have published 29046 publications receiving 771023 citations. The organization is also known as: Università degli Studi di Cagliari & Universita degli Studi di Cagliari.

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Abstract: Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. Methods Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor. Results Biallelic homozygous or compound heterozygous CECR1 mutations were detected in 15/48 patients. A heterozygous disease-associated mutation (p.G47V) was observed in two affected brothers. The mean age of onset of the genetically positive patients was 24 months (6 months to 7 years). Ten patients displayed one or more cerebral strokes during their disease course. Low immunoglobulin levels were detected in six patients. Thalidomide and anti-TNF (tumour necrosis factor) blockers were the most effective drugs. Patients without CECR1 mutations had a later age at disease onset, a lower prevalence of neurological and skin manifestations; one of these patients displayed all the clinical features of adenosine deaminase 2deficiency (DADA2) and a defective enzymatic activity suggesting the presence of a missed mutation or a synthesis defect. Conclusions DADA2 accounts for paediatric patients diagnosed with PAN-like disease and strokes and might explain an unrecognised condition in patients followed by adult rheumatologist. Timely diagnosis and treatment with anti-TNF agents are crucial for the prevention of severe complications of the disease. Functional assay to measure ADA2 activity should complement genetic testing in patients with non-confirming genotypes.

The Virtual Object as a Major Element of the Internet of Things: A Survey

Abstract: The Internet of Things (IoT) paradigm has been evolving toward the creation of a cyber-physical world where everything can be found, activated, probed, interconnected, and updated, so that any possible interaction, both virtual and/or physical, can take place. A Crucial concept of this paradigm is that of the virtual object, which is the digital counterpart of any real (human or lifeless, static or mobile, solid or intangible) entity in the IoT. It has now become a major component of the current IoT platforms, supporting the discovery and mash up of services, fostering the creation of complex applications, improving the objects energy management efficiency, as well as addressing heterogeneity and scalability issues. This paper aims at providing the reader with a survey of the virtual object in the IoT world. Virtualness is addressed from several perspectives: historical evolution of its definitions, current functionalities assigned to the virtual object and how they tackle the main IoT challenges, and major IoT platforms, which implement these functionalities. Finally, we illustrate the lessons learned after having acquired a comprehensive view of the topic.