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Background: Current literature reports a gap between development of effective interventions to promote physical activity and the systematic uptake into real-world settings. Factors relating to implementation and scale-up of physical activity interventions have been examined, however the perspectives of multiple stakeholders from different domains are not well researched. The purpose of this study was to examine the perceived factors related to physical activity intervention implementation and scale-up in different domains from different stakeholders on the island of Ireland., Methods: Practitioners, researchers, funders and policy makers in Ireland were invited to take part in a semi-structured interview exploring factors related to the implementation and scale-up of eleven different physical activity interventions. A thematic analysis was conducted to identify factors related to the implementation and scale-up of the included interventions. The data collection and analysis were guided by the Consolidated Framework for Implementation Research., Results: Thirty-eight participants took part in the interviews which identified factors related to 1) intervention planning and practical considerations; 2) organisational structures, staffing and resources related to delivery; 3) reflection, evaluation and updating of the intervention; and 4) practical consideration related to scale-up. Furthermore, participants referred to the ongoing commitment, engagement, and support needed throughout the implementation process., Conclusions: Future research and practice needs to consider how different factors are experienced at different implementation stages and by the different stakeholder groups involved. The findings highlight multiple inter-related factors that influence the implementation and scale-up of physical activity interventions, but also identifies many strategies that can be utilised to aid future successes., (© 2023. The Author(s).)

Physical activity (PA) promotion is a complex challenge, with the Global Action Plan on Physical Activity (GAPPA) endorsing a systems approach and recommending countries assess existing areas of progress which can be strengthened. This paper reports a process facilitating a systems approach for identifying current good practice and gaps for promoting PA in Ireland. Elements of participatory action research were enabled through 3 stages: (1) aligning examples of actions from Irish policy documents (n = 3) to the GAPPA, (2) workshop with stakeholders across multiple sectors, and (3) review of outputs. Data collected through the workshop were analyzed using a deductive thematic analysis guided by the GAPPA. The policy context in Ireland aligns closely to the GAPPA with the creation of Active Systems the most common strategic objective across policy documents. Forty participants (50% male) took part in the systems approach workshop, which after revision resulted in 80 examples of good practice and 121 actions for greater impact. A pragmatic and replicable process facilitating a systems approach was adopted and showed current Irish policy and practices align with the GAPPA "good practices." The process provides existing areas of progress which can be strengthened, as well as the policy opportunities and practice gaps.

Background: Public policy is increasingly recognized as an important component of physical activity promotion. This paper reports on the current status of physical activity policy development and implementation in four European countries based on the Health-Enhancing Physical Activity Policy Audit Tool (HEPA PAT) developed by WHO. It compares the findings to previous studies and discusses the general utility of this tool and its unique features in relation to other instruments., Methods: The study was conducted as part of the Policy Evaluation Network ( www.jpi-pen.eu ) in Germany, Ireland, the Netherlands and Poland. Data collection built upon information obtained via the EU Physical Activity Monitoring Framework survey, additional desk research and expert opinion. Data analysis employed Howlett's policy cycle framework to map and compare national physical activity policies in the four countries., Results: In all countries under study, policy agenda-setting is influenced by prevalence data from national health monitoring systems, and the sport and/or health sector takes the lead in policy formulation. Key policy documents were located mainly in the health sector but also in sport, urban design and transport. Physical activity programmes implemented to meet policy objectives usually cover a broad range of target groups, but currently only a small selection of major policies are evaluated for effectiveness. National experts made several suggestions to other countries wishing to establish physical activity policies, e.g. regarding cross-sectoral support and coordination, comprehensive national action plans, and monitoring/surveillance., Conclusions: This study provides a detailed overview of physical activity policies in the four countries. Results show that national governments are already very active in the field but that there is room for improvement in a number of areas, e.g. regarding the contribution of sectors beyond sport and health. Using the HEPA PAT simultaneously in four countries also showed that procedures and timelines have to be adapted to national contexts. Overall, the instrument can make an important contribution to understanding and informing physical activity policy, especially when used as an add-on to regular monitoring tools like the EU HEPA Monitoring Framework.

Family ZMK is a large Irish kindred that segregates progressive sensorineural hearing loss and retinitis pigmentosa. The symptoms in the family are almost identical to those observed in Usher syndrome type III. Unlike that in Usher syndrome type III, the inheritance pattern in this family is compatible with dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and >90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, it is notable that no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-->A transversion at position 12258 in the gene encoding the second mitochondrial serine tRNA, MTTS2, was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation probably disrupts the amino acid-acceptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. In summary, the data presented provide substantial evidence that the C12258A mtDNA mutation is causative of the disease phenotype in family ZMK.

A gene for juvenile onset, open angle glaucoma (JOAG) has been localized to chromosome 1q21-31 in several families. Mutations in the trabecular meshwork-induced glucocorticoid response protein (TIGR) gene, which maps to this region, recently have been found in families segregating both JOAG and a later onset form of primary open angle glaucoma (POAG). We have analysed the TIGR gene in two families; one Spanish family segregating autosomal dominant JOAG and an Irish family with a later onset form of autosomal dominant POAG. We have found a G-T transversion in the first base of codon 426 in all affected members of the Spanish family, which results in a valine to phenylalanine amino acid substitution. We have also found a G-A transition at the first base of codon 367 that segregates through all but one branch of the Irish family and results in a glycine to arginine amino acid substitution. Members of this family that carry the Gly367Arg change also share a common haplotype that is neither present in any of the unaffected members of the family, nor in the branch that does not segregate the mutation. Identification of further mutations in the TIGR gene increases its importance in the etiology of open angle glaucoma.

We have located three extended families in Ireland (population 3.5 million) with autosomal dominant simplex forms of Epidermolysis Bullosa (EBS). A mutation within the keratin type I (K14) gene (Met-->272-->Arg) in one family suffering from the generalized simplex (Koebner) form of the disease has been previously described (Humphries et al., Hum Mutat 2:37-42, 1993). Here we report on the identification of mutations within the remaining two families, both of whom suffer from the Weber-Cockayne form of the disease. These mutations, within the type II keratin (K5) gene, are Asn-->193-->Lys and Met-->327-->Thr. They have been shown in each case to co-segregate with the disease and are not present in the normal population. Within the three families, a total of 44 living persons with such mutations have been identified, providing a minimum prevalence estimate for the disease in the Irish population of approximately 1 in 80,000, compared to an overall estimated global incidence at birth for all forms of EB of 1 in 50,000. Therefore, these three mutations probably account for the majority of cases of EBS within this population.

Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.

Retinitis Pigmentosa (RP) is the most prevalent degenerative retinal disease of mendelian origin, currently affecting approximately 1.5 million people worldwide. To date it has been established that a minimum of five different genes maybe involved in the pathogenesis of autosomal dominant forms of RP (adRP). The genes encoding two retinal specific proteins, rhodopsin and peripherin/RDS, have been implicated in causing adRP due to the observation of many different mutations in these genes in patients suffering from RP. The three remaining adRP genes have been mapped to specific regions of human chromosomes but as yet are uncharacterized. We have investigated if there is evidence for the presence of another locus in the genome which when mutated causes adRP. We have utilised polymorphic genetic markers which have previously been mapped to each of the regions known to harbour adRP genes, to test for the exclusion or linkage of the disease gene segregating in a pedigree of Irish origin and find no evidence for linkage. Hence we provide definitive evidence for the involvement of yet another locus. The implications of high levels of genetic heterogeneity inherent in adRP are discussed in relation to diagnosis, prognosis and future therapies.