Diabetes in Malta : current findings and future trends

Diabetes is a considerable global problem. Recent projections suggest that at least 194 million people suffer from diabetes worldwide. The World Health Organization suggests this number will increase to 333 million by 2025. Approximately four million deaths each year are caused by diabetes-related complications totaling an astounding 9% of deaths worldwide. Currently, epidemiological studies indicate that 1% of the Maltese population suffer from Type I Diabetes Mellitus and 9% from Type II Diabetes Mellitus. Following global predictions, it is probable that the incidence of Type I diabetes will increase also. This article evaluates the current Maltese diabetic care system and conducts a strategic analysis of diabetic practices. Recommendations for a cost-effective standard of care, legislative support for comprehensive diabetic care, and a national policy are proposed.peer-reviewe

Revisão sistemática sobre juventude e participação nos últimos 10 anos A systematic review on youth participation in the last 10 years

Este artigo apresenta uma revisão da literatura sobre participação juvenil, tendo como objetivo relacionar e discutir as principais questões trazidas pelos pesquisadores que publicam em língua inglesa e portuguesa nos últimos 10 anos. Destacando a importância do tema da participação no âmbito dos atuais estudos e práticas sociais que contemplam a juventude, o texto contextualiza a aproximação desses conceitos. Constata-se que grande parte dos trabalhos publicados diz respeito a uma dupla percepção: o baixo engajamento social e político dos jovens na atualidade e a emergência de novas formas de participação. Têm destaque os grupos de jovens que se formam motivados pela criação artística, pela espiritualidade, pelo lazer, pela ação solidária em suas comunidades e nas lutas contra discriminações e violências. Novas categorias e referenciais de análise são indicados para o reconhecimento e entendimento das atuais formas de participação juvenis. A formação de adultos e jovens no contexto das instituições é apontada como caminho prioritário para viabilizar a participação juvenil, o diálogo entre as gerações e a ressignificação do espaço político.<br>This article presents a bibliographic review on youth participation, aiming to relate and discuss the main questions raised by researchers publishing in English and Portuguese in the last 10 years. It emphasizes and puts into context the question of participation regarding studies and social practices having youth as their target. A great number of academic publications approach a double perception: youngsters' poor social and political engagement and the emergence of new forms of participation. The article emphasizes the importance of youngster groups that are formed and motivated by artistic creation, spirituality, leisure, solidarity acts in their communities and through the fight against discrimination and different forms of violence. In order to recognize and understand these new forms of youth participation, new categories and analytic references are indicated. Bringing up adults and youngsters inside an institutional environment is considered the best way to obtain youth participation, the dialogue between generations and the re-signification of political spaces

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals where it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologs. Using RNA-sequencing, we show how 5' splice site usage is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 bp region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide