822 resultados para Best Dominant


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In many environmental valuation applications standard sample sizes for choice modelling surveys are impractical to achieve. One can improve data quality using more in-depth surveys administered to fewer respondents. We report on a study using high quality rank-ordered data elicited with the best-worst approach. The resulting "exploded logit" choice model, estimated on 64 responses per person, was used to study the willingness to pay for external benefits by visitors for policies which maintain the cultural heritage of alpine grazing commons. We find evidence supporting this approach and reasonable estimates of mean WTP, which appear theoretically valid and policy informative. © The Author (2011).

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Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is often associated with sensorineural deafness and/or ocular abnormalities. The majority of families are X-linked due to mutations in the COL4A5 gene at Xq22. Autosomal forms of the disease are also recognized with recessive disease, having been shown to be due to mutations in the COL4A3 and COL4A4 genes on chromosome 2. Familial benign haematuria has also been mapped to this region in some families.

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Alport syndrome (AS) is a clinically and genetically heterogeneous renal disorder, predominantly affecting the type IV collagen alpha 3/alpha 4/alpha 5 network of the glomerular basement membrane (GBM). AS can be caused by mutations in any of the three genes encoding these type IV collagen chains. The majority of AS families (85%) are X-linked (XL-AS) involving mutations in the COL4A5 gene. Mutations in the COL4A3 and COL4A4 genes cause autosomal recessive AS (AR-AS), accounting for approximately 14% of the cases. Recently, autosomal dominant AS (AD-AS) was linked to the COL4A3/COL4A4 locus in a large family.

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Aim:

The distribution of the Lusitanian flora and fauna, species which are found only in southern and western Ireland and in northern Spain and Portugal but which are absent from intervening countries, represents one of the classic conundrums of biogeography. The aim of the present study was to determine whether the distribution of the Lusitanian plant species Daboecia cantabrica was due to persistence in separate Irish and Iberian refugia, or has resulted from post-glacial recolonization followed by subsequent extinction of intervening populations.

Location:

Northern Spain and Co. Galway, western Ireland.

Methods:

Palaeodistribution modelling using Maxent was employed to identify putative refugial areas for D. cantabrica at the Last Glacial Maximum (LGM). Phylogeographical analysis of samples from 64 locations in Ireland and Spain were carried out using a chloroplast marker (atpB–rbcL), the nuclear ITS region, and an anonymous nuclear single-copy locus.

Results:

The palaeodistribution model indicated areas with a high probability of survival for D. cantabrica at the LGM off the western coast of Galicia in Spain, and in the Bay of Biscay. Spanish populations exhibited substantially higher genetic diversity than Irish populations at all three loci, as well as geographical structuring of haplotypes within Spain consistent with divergence in separate refugia. Spanish populations also exhibited far more endemic haplotypes. Divergence time between Irish and Spanish populations associated with the putative Biscay refugium was estimated as 3.333–32 ka.

Main conclusions:

Our data indicate persistence by D. cantabrica throughout the LGM in two separate southern refugia: one in western Galicia and one in the area off the coast of western France which now lies in the Bay of Biscay. Spain was recolonized from both refugia, whilst Ireland was most likely recolonized from the Biscay refugium. On the balance of evidence across the three marker types and the palaeodistribution modelling, our findings do not support the idea of in situ survival of D. cantabrica in Ireland, contrary to earlier suggestions. The fact that we cannot conclusively rule out the existence of a small, more northerly refugium, however, highlights the need for further analysis of Lusitanian plant species.

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In this article, the authors provide an overview on the development of a Long-Term Care Best Practise Resource Centre. The results of both a feasibility study and the outcomes of a 1-year demonstration project are presented. The demonstration project involved a hospital as the information service provider and two demonstration sites, a home care service agency and a nursing home that used the services of the Centre. The goals of the Centre were threefold: provide access to literature for staff in long-term care (LTC) settings; improve the information management skills of health care providers; and support research and the integration of best practices in LTC organizations. The results of the pilot study contributed to the development of a collaborative information access system for LTC clinicians and managers that provides timely, up-to-date information contributing to improving the quality of care for adults receiving LTC. Based on this demonstration project, strategies for successful innovation in LTC are identified.

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Subclones homozygous for JAK2V617F are more common in polycythemia vera (PV) than essential thrombocythemia (ET), but their prevalence and significance remain unclear. The JAK2 mutation status of 6495 BFU-E, grown in low erythropoietin conditions, was determined in 77 patients with PV or ET. Homozygous-mutant colonies were common in patients with JAK2V617F-positive PV and were surprisingly prevalent in JAK2V617F-positive ET and JAK2 exon 12-mutated PV. Using microsatellite PCR to map loss-of-heterozygosity breakpoints within individual colonies, we demonstrate that recurrent acquisition of JAK2V617F homozygosity occurs frequently in both PV and ET. PV was distinguished from ET by expansion of a dominant homozygous subclone, the selective advantage of which is likely to reflect additional genetic or epigenetic lesions. Our results suggest a model in which development of a dominant JAK2V617F-homzygous subclone drives erythrocytosis in many PV patients, with alternative mechanisms operating in those with small or undetectable homozygous-mutant clones.

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Parenting programmes have been provided to a wide range of child and parent groups across a number of countries, but are they effective? This aim of this paper is to examine the findings from a number of systematic reviews that summarise the best available research evidence on the impact of these programmes on a range of parental and child outcomes. In addition to examining the findings from systematic reviews, the paper also takes a selective look at the uptake of parenting programmes in the United Kingdom, the evidence for effectiveness and the efficacy of adopting a population-based approach to parent education.

The findings from systematic reviews indicate that parenting programmes can have a positive impact on a range of outcomes, including improved child behaviour, increased maternal self-esteem and relationship adjustment, improved mother–child interaction and knowledge and decreased maternal depression and stress. While there is a need for greater evaluation of the long-term impact of these programmes, preliminary evidence indicates that these positive results are maintained over time, with group-based, behaviourally orientated programmes tending to be more effective.

While several recent trials indicate that that these programmes can be effective within the United Kingdom, high drop-out rates may mean that they only reach a minority of parents. However, multi-level parent education strategies such as the Australian Triple P Positive Parenting Strategy that incorporate an array of mediums aimed at different levels of need may provide an opportunity to reach a wider range of parents. This approach is currently being evaluated in order to ascertain whether it is effective in improving child outcomes in the general population.

While there is no coherent strategy for parent training across the United Kingdom, within the Northern Ireland context there is a move towards the development of a family support strategy. While uptake of parent education and training is currently unknown the best available evidence highlights the positive impact that parent training can have, suggesting the importance of including parent education as one aspect of this strategy

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Glaucoma is characterized by a typical appearance of the optic disc and peripheral visual field loss. However, diagnosis may be challenging even for an experienced clinician due to wide variability among normal and glaucomatous eyes. Standard automated perimetry is routinely used to establish the diagnosis of glaucoma. However, there is evidence that substantial retinal ganglion cell damage may occur in glaucoma before visual field defects are seen. The introduction of newer imaging devices such as confocal scanning laser ophthalmoscopy, scanning laser polarimetry and optical coherence tomography for measuring structural changes in the optic nerve head and retinal nerve fiber layer seems promising for early detection of glaucoma. New functional tests may also help in the diagnosis. However, there is no evidence that a single measurement is superior to the others and a combination of tests may be needed for detecting early damage in glaucoma. © 2010 Expert Reviews Ltd.

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