939 resultados para familial juvenile hyperuricaemic nephropathy


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Abstract Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis and Lynch syndrome have well defined genetic causes, the search for variants underlying the remainder of familial CRC is plagued by genetic heterogeneity. The recent identification of families with a heritable predisposition to malignancies arising through the serrated pathway (familial serrated neoplasia or Jass syndrome) provides an opportunity to study a subset of familial CRC in which heterogeneity may be greatly reduced. A genome-wide linkage screen was performed on a large family displaying a dominantly-inherited predisposition to serrated neoplasia genotyped using the Affymetrix GeneChip Human Mapping 10 K SNP Array. Parametric and nonparametric analyses were performed and resulting regions of interest, as well as previously reported CRC susceptibility loci at 3q22, 7q31 and 9q22, were followed up by finemapping in 10 serrated neoplasia families. Genome-wide linkage analysis revealed regions of interest at 2p25.2-p25.1, 2q24.3-q37.1 and 8p21.2-q12.1. Finemapping linkage and haplotype analyses identified 2q32.2-q33.3 as the region most likely to harbour linkage, with heterogeneity logarithm of the odds (HLOD) 2.09 and nonparametric linkage (NPL) score 2.36 (P = 0.004). Five primary candidate genes (CFLAR, CASP10, CASP8, FZD7 and BMPR2) were sequenced and no segregating variants identified. There was no evidence of linkage to previously reported loci on chromosomes 3, 7 and 9.

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Much current Queensland media rhetoric, government policy and legislation on truancy and youth justice appears to be based on ideas of responsibilisation – of sheeting responsibility for children’s behaviour back onto their parents. This article examines the evidence of parental responsibility provisions in juvenile justice and truancy legislation in Queensland and the drivers behind this approach. It considers recent legislative initiatives as part of an international trend toward making parents ‘responsible’ for the wrongs of their children. It identifies the parental responsibility rhetoric appearing in recent ministerial statements and associated media reports. It then asks the questions – are these legislative provisions being enforced? And if so, are they successful? Are they simply adding to the administrative burdens placed on teachers and schools, and the socioeconomic burdens placed on already disadvantaged parents? Parental responsibility provisions have been discussed at length in the context of juvenile offending and research suggests that punishing parents for the acts of their children does not decrease delinquency. The paper asks how, as a society, we intend to evaluate these punitive measures against parents?

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Separate systems of justice for children and young people have always been beset by issues of contradiction and compromise. There is compelling evidence that such ambiguity is currently being `resolved' by a greater governmental resort to neo-conservative punitive and correctional interventions and a neo-liberal responsibilizing mentality in which the protection historically afforded to children is rapidly dissolving. This resurgent authoritarianism appears all the more anachronistic when it is set against the widely held commitment to act within the guidelines established by various children's rights conventions. Of note is the United Nations Convention on the Rights of the Child, frequently described as the most ratified human rights convention in the world, but lamentably also the most violated. Based on international research on juvenile custody rates and children's rights compliance in the USA and Western Europe, this article examines why and to what extent `American exceptionalism' might be permeating European nation states.

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Little research has examined the extent to which active ageing is facilitated by family and nonfamilial support persons of older adults with intellectual disabilities. This study explores the role played by key unpaid carers/support persons of older adults with lifelong intellectual disabilities in facilitating "active ageing." Little research has examined the extent to which active ageing is facilitated by family and nonfamilial support persons of older adults with intellectual disabilities. This study explores the role played by key unpaid carers/support persons of older adults with lifelong intellectual disabilities in facilitating “active ageing.” All key social network members conceived active ageing to mean ongoing activity. Family and extended family members were found to play a crucial role in facilitating independent living and providing opportunities for recreational pursuits for those living in group homes. Members of religious organizations and group home staff provided the same types of opportunities where family support was absent. The findings suggest the need for improvements in resource provision, staff training, and group home policy and building design.

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This submission addresses the Queensland Government’s Department of Communities Issues Paper regarding the Review of the Juvenile Justice Act 1992 (August 2007). The Queensland University of Technology Faculty of Law has a Criminal Justice Program within the Law and Justice Research Centre. The members of this Program wish to participate in the debate on these issues which are critically important to the Queensland community at large but especially to our young people.

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This study explored the health needs, familial and social problems of Thai migrants in a local community in Brisbane, Australia. Five focus groups with Thai migrants were conducted. The qualitative data were examined using thematic content analysis that is specifically designed for focus group analysis. Four themes were identified: (1) positive experiences in Australia, (2) physical health problems, (3) mental health problems, and (4) familial and social health problems. This study revealed key health needs related to chronic disease and mental health, major barriers to health service use, such as language skills, and facilitating factors, such as the Thai Temple. We concluded that because the health needs, familial and social problems of Thai migrants were complex and culture bound, the development of health and community services for Thai migrants needs to take account of the ways in which Thai culture both negatively impacts health and offer positive solutions to problems.