How to exploit abstract user interfaces in MARIA

In model-based approaches, Abstract User Interfaces enable the specification of interactive applications in a modality-independent manner, which is then often used for authoring multi-device interactive applications. In this paper we discuss two solutions for exploiting abstract UIs. We consider the MARIA language for such comparison. The overall aim is to improve the efficiency of the model-based process, thus making it easier to adopt and apply

How to exploit abstract user interfaces in MARIA

In model-based approaches, Abstract User Interfaces enable the specification of interactive applications in a modality-independent manner, which is then often used for authoring multi-device interactive applications. In this paper we discuss two solutions for exploiting abstract UIs. We consider the MARIA language for such comparison. The overall aim is to improve the efficiency of the model-based process, thus making it easier to adopt and apply

A set of languages for context-aware adaptation

The creation of service front ends able to adapt to the context of use involves a wide spectrum of aspects to be considered by developers and designers. A context-aware adaptation enabled application needs a simultaneous management of very different application functionalities, such as the context sensing, identifying different given situations, determining the appropriate reactions and the execution of the adaptation effects. In this paper we describe an adaptation architecture for tackling this complexity and we present a set of languages that address the definition of the various aspects of an adaptive application

A novel mutation in SACS gene in a family from southern Italy

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS

Molecular analysis of Duchenne/Becker muscular dystrophy

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Cervical dystonia patients display subclinical gait changes

Gait disorders in cervical dystonia (CD) are reported in patients under DBS or in severe cases complicated with spinal deformities

An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy.

Charcot-Marie Tooth type 2B (CMT2B) is a rare inherited peripheral neuropathy caused by five missense mutations in the RAB7A gene, which encodes a small GTPase of the RAB family. Currently, no cure is available for this disease. In this study, we approached the disease by comparing the lipid metabolism of CMT2B-derived fibroblasts to that of healthy controls. We found that CMT2B cells showed increased monounsaturated fatty acid level and increased expression of key enzymes of monounsaturated and polyunsaturated fatty acid synthesis. Moreover, in CMT2B cells a higher expression of acetyl-CoA carboxylase (ACC) and fatty acid synthase (FAS), key enzymes of de novo fatty acid synthesis, with a concomitantly increased [1-14C]acetate incorporation into fatty acids, was observed. The expression of diacylglycerol acyltransferase 2, a rate-limiting enzyme in triacylglycerol synthesis, as well as triacylglycerol levels were increased in CMT2B compared to control cells. In addition, as RAB7A controls lipid droplet breakdown and lipid droplet dynamics have been linked to diseases, we analyzed these organelles and showed that in CMT2B cells there is a strong accumulation of lipid droplets compared to control cells, thus reinforcing our data on abnormal lipid metabolism in CMT2B. Furthermore, we demonstrated that ACC and FAS expression levels changed upon RAB7 silencing or overexpression in HeLa cells, thus suggesting that metabolic modifications observed in CMT2B-derived fibroblasts can be, at least in part, related to RAB7 mutations