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Contains fulltext : 237261.pdf (Publisher’s version ) (Closed access) Adherence to national and international clinical practice guidelines is suboptimal throughout Europe. The European Association of Urology Guidelines Office project "IMAGINE" (IMpact Assessment of Guidelines Implementation and Education) has been developed to measure baseline adherence to urological guideline recommendations across Europe and to identify issues that drive nonadherence.

Armenia became an independent state after breakdown of the Soviet Union in 1991. After considerable derangements in the first independence decade, the country's healthcare system has seen some progress recently in terms of improving existing and developing new services, diversification of financing, with the introduction of public benefits, private domain and health insurance. The Information and Communication Technologies sector is one of the country's most dynamically developing and competitive industries. Despite that, Armenia has had modest achievements in eHealth and telemedicine so far. Centralized eHealth policy, administration and infrastructure are as yet absent, Health Information and Communication Technology (ICT) tools and applications are very slowly making their way into mainstream healthcare practices, and there are few regular telemedicine activities. Some revival of the field in the recent years is primarily related to consistent efforts by the authorities to develop eHealth, and the emergence of the national professional organization – Armenian Association of Telemedicine (AATM).

In the course of developing a low-density lipoprotein receptor (LDLR) gene therapy treatment for homozygous familial hypercholesterolemia (HoFH), we planned to examine the efficacy in a nonhuman primate model, the rhesus macaque heterozygous for an LDL receptor mutation fed a high-fat diet. Unexpectedly, our initial cDNA sequencing studies led to the identification of a heretofore unidentified splicing isoform of the rhesus LDLR gene. Compared with the publicly available GenBank reference sequence of rhesus LDLR, the novel isoform contains a 21 bp in frame insertion. This sequence coincides with part of exon 5 and creates a site for the restriction enzyme MscI. Using this site as a marker for the 21 bp in-frame insertion, we conducted a restriction enzyme screen to examine for the prevalence of the novel isoform in rhesus liver tissue cDNA and its homolog in human liver tissue cDNA. We found that the novel isoform is the predominant LDLR cDNA found in rhesus liver and the sole LDLR cDNA found in human liver. Finally, we compared the in vivo functionality of the novel and previously identified rhesus LDLR splicing isoforms in a mouse model of HoFH.

Alternative splicing of pre-mRNA transcripts is a critical and extensively utilized mechanism of gene regulation. In this chapter, we describe a series of fluorescent and luminescent minigene reporters our lab has used to facilitate the study of alternative splicing regulation in cultured cells. Through the use of different versions of these minigenes, the inclusion level of a cassette exon can be directly ascertained by fluorescence or luciferase activity, thereby making it possible to establish cell-based assays for induced exon splicing or skipping. A successful application of these minigenes in a high-throughput cDNA screen led to the identification of a cell type-specific regulator of FGFR2 splicing, illustrating the power of these reporters to yield novel insights into alternative splicing. The methods and minigenes described are adaptable for genetic screens to uncover novel regulators of a broader set of alternative splicing events in other gene transcripts. These reporters also have a dynamic range that is suitable for small molecule screening for compounds that can regulate splicing.