141 resultados para Families


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Building on Habermas’s conceptualisation of modes of reasoning, the authors proposed that an application of critical theory to the present bureaucratised nature of communication between state representatives and welfare recipients (Howe 1992) might open up ways in which social workers could reconceptualise their practice. In a subsequent edition of this journal, three of the present authors introduced the radical theatre of Augusto Boal as a methodology which might provide an expressive route for social workers seeking to build a practice combining the intellectual analysis of critical theory with new ways of working (Spratt et al. 2000). Boal’s method recognises the oppressed status of groups who come to the attention of agents of the state and, through the use of a range of theatrical techniques, introduces strategies to facilitate the conscious recognition of such collective oppressions and develop dialogical ways to address them. In the last paper, the authors presented one such technique, ‘image theatre’, and demonstrated its use with social workers in consciousness raising and developing strategies for collective action.

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In Northern Ireland, most research on the impact upon children of living through the 'troubles' and in a divided society has assumed that children are from either the Catholic or Protestant community. There has been very little researchwith children from cross-community families who have one parent from a Catholic background and one from a Protestant background. it is know, however, that these children are over-represented in the public care system in Northern Ireland. The study reported in this paper addresses this gap in knowledge by exploring the experiences and views of children from cross-community families who are in public care in northern Ireland. The study has key messages for the development of services for looked after children from cross-community families, if these are to be delivered in accordance with legislative duties in Northern Ireland and in an anti-sectarian manner.

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Background: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Δ7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. Methods: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Δ7aa region of the MEF2A gene was investigated based on amplicon size. Results: The Δ7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. Conclusion: The Δ7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group. © 2006 Horan et al; licensee BioMed Central Ltd.

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The co-occurrence of two rare recessive genetic conditions in apparently unrelated individuals or families is extremely rare. Two geographically distant and apparently unrelated families were identified in which individuals were simultaneously affected by two rare recessive mendelian syndromes, Papillon-Lefevre syndrome and type 1 oculocutaneous albinism. The families were tested for mutations in the causative genes, cathepsin C (CTSC) and tyrosinase (TYR), respectively, by direct sequencing. To assess the relationship of the two families, both families were tested for polymorphisms at eight microsatellite markers spanning both CTSC and TYR loci. Independent mutations (c.318-1G-->A and c.817G-->C/p.W272C) were identified in CTSC and TYR, respectively, that were shared by the affected individuals in both families. The two affected genes lie close together on chromosome bands 11q14.2-14.3, and studies with linked genetic markers suggested that the families shared a small chromosomal segment carrying both mutations that had been transmitted intact from a remote common ancestor. The co-occurrence of the two rare diseases in multiple families depends on their shared chromosomal location, but not on any shared pathogenic mechanism.

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Cerebral palsy is a relatively rare condition affecting approximately 2-2.5 children in every 1,000 (Parkes et al 2001). It is a leading cause of physical disability in childhood and is often associated with severe motor and other impairments (Table 1). Improved survival of small and premature babies who are particularly at risk of developing the condition raises concerns about increasing numbers of children with cerebral palsy possibly with more severe forms. In the UK, information about the number and needs of children with CP is not collected routinely. The most reliable sources of information on CP in the UK comes from five dedicated case registers which have monitored live births in their respective geographically defined areas since the 1960s and 1970s. These registers have formed a collaborative network called the United Kingdom Collaboration of Cerebral Palsy Registers (or UKCP) and are listed in Table 2. All five registers are currently funded and all are active in surveillance activities and research.