91 resultados para systemic sclerosis

em Queensland University of Technology - ePrints Archive


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In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and further refined, and the observed peak of association in PXK was related to DNASE1L3. Our study has increased the number of known genetic associations with SSc, provided further insight into the pleiotropic effects of shared autoimmune risk factors, and highlighted the power of dense mapping for detecting previously overlooked susceptibility loci.

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Explanations for poor educational experiences and results for Australian Indigenous school students have, to a great extent, focused on intended or conscious acts or omissions. This paper adopts an analysis based on the legislation prohibiting indirect racial discrimination. Using the elements of the legislation and case law it argues that apparently benign and race-neutral policies and practices may unwittingly be having an adverse impact on Indigenous students' education. These practices or policies include the building blocks of learning, a Eurocentric school culture. Standard English as the language of assessment, legislation to limit schools' legal liability, and teachers' promotions.

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The purpose of this study was to examine the impact of pain on functioning across multiple quality of life (QOL) domains among individuals with multiple sclerosis (MS). A total of 219 people were recruited from a regional MS society membership database to serve as the community-based study sample. All participants completed a questionnaire containing items about their demographic and clinical characteristics, validated measures of QOL and MS-related disability, and a question on whether or not they had experienced clinically significant pain in the preceding 2 weeks. Respondents who reported pain then completed an in-person structured pain interview assessing pain characteristics (intensity, quality, location, extent, and duration). Comparisons between participants with and without MS-related pain demonstrated that pain prevalence and intensity were strongly correlated with QOL: physical health, psychological health, level of independence, and global QOL were more likely to be impaired among people with MS when pain was present, and the extent of impairment was associated with the intensity of pain. Moreover, these relationships remained significant even after statistically controlling for multiple demographic and clinical covariates associated with self-reported QOL. These findings suggest that for people with MS, pain is an important source of distress and disability beyond that caused by neurologic impairments.

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Benefit finding is a meaning making construct that has been shown to be related to adjustment in people with MS and their carers. This study investigated the dimensions, stability and potency of benefit finding in predicting adjustment over a 12 month interval using a newly developed Benefit Finding in Multiple Sclerosis Scale (BFiMSS). Usable data from 388 persons with MS and 232 carers was obtained from questionnaires completed at Time 1 and 12 months later (Time 2). Factor analysis of the BFiMSS revealed seven psychometrically sound factors: Compassion/Empathy, Spiritual Growth, Mindfulness, Family Relations Growth, Life Style Gains, Personal Growth, New Opportunities. BFiMSS total and factors showed satisfactory internal and retest reliability coefficients, and convergent, criterion and external validity. Results of regression analyses indicated that the Time 1 BFiMSS factors accounted for significant amounts of variance in each of the Time 2 adjustment outcomes (positive states of mind, positive affect, anxiety, depression) after controlling for Time 1 adjustment, and relevant demographic and illness variables. Findings delineate the dimensional structure of benefit finding in MS, the differential links between benefit finding dimensions and adjustment and the temporal unfolding of benefit finding in chronic illness.

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Embedding gifted education practices requires major professional development strategies supported by transparent, credible and enforceable policy. This paper describes an analysis of a state-wide initiative involving the establishment of a series of schools tasked to develop and disseminate gifted education principles. The authors have been involved with this initiative at a number of levels over a ten-year period. Their involvement culminated in a commissioned review of the program. Extensive qualitative data were purposively collected from all stakeholders and the effectiveness of the initiative is examined from a theoretical framework of policy development and excellence. The findings summarised in this proposal, indicate the achievement of excellence at a systemic level was constrained by lack of vision, leadership and commitment to long term achievements of excellence. At a local level evidence exists that excellence can be manifested when there is synchronicity of vision, purpose, decisions, and actions.

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Government figures put the current indigenous unemployment rate at around 23%, 3 times the unemployment rate for other Australians. This thesis aims to assess whether Australian indirect discrimination legislation can provide a remedy for one of the causes of indigenous unemployment - the systemic discrimination which can result from the mere operation of established procedures of recruitment and hiring. The impact of those practices on indigenous people is examined in the context of an analysis of anti-discrimination legislation and cases from all Australian jurisdictions from the time of the passing of the Racial Discrimination Act by the Commonwealth in 1975 to the present. The thesis finds a number of reasons why the legislation fails to provide equality of opportunity for indigenous people seeking to enter the workforce. In nearly all jurisdictions it is obscurely drafted, used mainly by educated middle class white women, and provides remedies which tend to be compensatory damages rather than change to recruitment policy. White dominance of the legal process has produced legislative and judicial definitions of "race" and "Aboriginality" which focus on biology rather than cultural difference. In the commissions and tribunals complaints of racial discrimination are often rejected on the grounds of being "vexatious" or "frivolous", not reaching the required standard of proof, or not showing a causal connection between race and the conduct complained of. In all jurisdictions the cornerstone of liability is whether a particular employment term, condition or practice is reasonable. The thesis evaluates the approaches taken by appellate courts, including the High Court, and concludes that there is a trend towards an interpretation of reasonableness which favours employer arguments such as economic rationalism, the maintenance of good industrial relations, managerial prerogative to hire and fire, and the protection of majority rights. The thesis recommends that separate, clearly drafted legislation should be passed to address indigenous disadvantage and that indigenous people should be involved in all stages of the process.

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This study examined the utility of self-efficacy as a predictor of social activity and mood control in multiple sclerosis (MS). Seventy-one subjects with MS were recruited from people attending an MS centre or from a mailing list and were examined on two occasions that were two months apart. Clinic patients were more disabled than patients who completed assessments by post, but they were of higher socioeconomic status and were less dysphoric. We attempted to predict self-reported performance of mood control and social activity at two months, from self-efficacy or performance on these tasks at pretest. Demographic variables, disorder status, disability, self-esteem and depression were also allowed to compete for entry into multiple regressions. Substantial stability in mood, performance and disability was observed over the two months. In both mood control and social activity, past performance was the strongest predictor of later performance, but self-efficacy also contributed significantly to the prediction. The disability level entered a prediction of socila activity, but no other variables predicted either type of performance. A secondary analysis predicting self-esteem at two months also included self-efficacy for social activity, illustrating the contribution of perceived capability to later assessments of self-worth. The study provided support for self-efficacy as a predictor of later behavioural outcomes and self-esteem in multiple sclerosis.