Genetic basis of arrhythmogenic cardiomyopathy

PURPOSE OF REVIEW: To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. RECENT FINDINGS: Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. SUMMARY: Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres

The icephobic performance of alkyl-grafted aluminum surfaces

This work analyzes the anti-icing performance of flat aluminum surfaces coated with widely used alkyl-group based layers of octadecyltrimethoxysilane, fluorinated alkylsilane and stearic acid as they are subjected to repeated icing/deicing cycles. The wetting properties of the samples upon long-term immersion in water are also evaluated. The results demonstrate that smooth aluminum surfaces grafted with alkyl groups are prone to gradual degradation of their hydrophobic and icephobic properties, which is caused by interactions and reactions with both ice and liquid water. This implies that alkyl-group based monolayers on aluminum surfaces are not likely to be durable icephobic coatings unless their durability in contact with ice and/or water is significantly improved

Mucus-degrading Bacteroides link carbapenems to aggravated graft-versus-host disease

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Policy-Driven Personalized Multimedia Services for Mobile Users

NRC publication: Ye

An Architectural Model For Mobile Agent-Based Multimedia Applications

Syntax Notation One (ASN.1) principles [4]. Refer to Figure 3 for an overview of the generic mobile agent structure. Although it is possible to construct an agent entirely as an executable script, the agent structure proposed in this paper includes the use of components that are external from the script. For example, information describing vital user and agent attributes (e.g. name of user, script language and version level used to encode agent) is listed externally from the agent script. An important benefit of this approach is to facilitate the inspection of incoming agents by the Front Desk; the Front Desk is responsible for determining whether the agent is compatible with the local environment (e.g. a site that only supports Telescript agents will reject an agent that is encoded using Tcl) and for validating the agent's credentials (i.e. to determine whether the user who is represented by the agent is authorized to use the services provided by the site). In this way, the Front Desk..

Developing Video Services for Mobile Users

NRC publication: Ye