1000 resultados para Recessive Action
Resumo:
This Artistic research project was created in order to test how to put into practice approaches between Contemporary Art and University daily life. In this particular case, between Action Art and the students at the Early Childhood Education University in Alicante. The generalized lack of awareness about changes which took place in Art in the XX century, demonstrates the lack of interest on the part of students about Contemporary Art, and therefore, it is still remarkable, the distance between Art and life. Thus, as artists and teachers, the chance to carry out specific experiments is open within everyday educational life. Therefore, through Action Art a communicative interaction is possible to be achieved as an active learning process and, in such way, change the usual existing relationships in a predetermine context, creating this way, future Contemporary Art consumers and transmitters.
Resumo:
This paper is written by democratic educators who stand for the idea that is it worth developing, through classrooms and schools, a socially just (egalitarian), anti-discriminatory society where interdependent relationships are valued. This paper significantly develops some of the ideas explored in the authors’ earlier contribution concerned with progress in Northern Ireland towards educational inclusion, and how this might more effectively advance in a post-conflict transforming society. In particular, the paper poses the ‘so what’ question, and it responds by exploring the practical implications of six key ideas thought essential for transforming learning environments supportive of cultural diversity, equity and excellence for all. In addition, it includes examples of how school staff, along with collaborating partners, might utilize these key principles in order to facilitate school improvement.
Resumo:
There is a growing interest in critical realism and its application to social work. This article makes a case for adopting this philosophical position in qualitative social work research. More specifically, it suggests that there is a concordance between critical realist premises and action research with its cyclical inquiry and advancement of social change. This combination of philosophy and method, it is argued, promotes anti-oppressive social work research and illuminates the processes shaping outcomes in programme evaluations. Overall, the article underscores the importance of 'depth' in qualitative inquiry by conceiving the social world in terms of five interlacing, social domains.
Resumo:
PURPOSE: Retinitis pigmentosa (RP) causes hereditary blindness in adults (prevalence, approximately 1 in 4000). Each of the more than 30 causative genes identified to date are responsible for only a small percentage of cases. Genetic diagnosis via traditional methods is problematic, and a single test with a higher probability of detecting the causative mutation would be very beneficial for the clinician. The goal of this study therefore was to develop a high-throughput screen capable of detecting both known mutations and novel mutations within all genes implicated in autosomal recessive or simplex RP. DESIGN: Evaluation of diagnostic technology. PARTICIPANTS AND CONTROLS: Participants were 56 simplex and autosomal recessive RP patients, with 360 population controls unscreened for ophthalmic disease. METHODS: A custom genechip capable of resequencing all exons containing known mutations in 19 disease-associated genes was developed (RP genechip). A second, commercially available arrayed primer extension (APEX) system was used to screen 501 individual previously reported variants. The ability of these high-throughput approaches to identify pathogenic variants was assessed in a cohort of simplex and autosomal recessive RP patients. MAIN OUTCOME MEASURES: Number of mutations and potentially pathogenic variants identified. RESULTS: The RP genechip identified 44 sequence variants: 5 previously reported mutations; 22 known single nucleotide polymorphisms (SNPs); 11 novel, potentially pathogenic variants; and 6 novel SNPs. There was strong concordance with the APEX array, but only the RP genechip detected novel variants. For example, identification of a novel mutation in CRB1 revealed a patient, who also had a single previously known CRB1 mutation, to be a compound heterozygote. In some individuals, potentially pathogenic variants were discovered in more than one gene, consistent with the existence of disease modifier effects resulting from mutations at a second locus. CONCLUSIONS: The RP genechip provides the significant advantage of detecting novel variants and could be expected to detect at least one pathogenic variant in more than 50% of patients. The APEX array provides a reliable method to detect known pathogenic variants in autosomal recessive RP and simplex RP patients and is commercially available. High-throughput genotyping for RP is evolving into a clinically useful genetic diagnostic tool.