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- Castellani, Carlo, et al.
(författare)
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
- 2008
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Ingår i: Journal of Cystic Fibrosis. - : Elsevier BV. - 1569-1993 .- 1873-5010. ; 7:3, s. 179-96
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Tidskriftsartikel (refereegranskat)abstract
- It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.
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- Svedberg, Gudrun, 1962-
(författare)
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Entreprenörskapets avtryck i klassrummets praxis : om villkor och lärande i gymnasieskolans entreprenörskapsprojekt
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Entrepreneurship has been entered on a supranational political agenda, in the EU and the OECD, and been emphatically described as a fundamental skill and a concern for schools and education. The agenda is reflected to a varying extent at the national and regional political levels. My aim is to describe, analyze and gain knowledge of what entrepreneurship in the Swedish upper secondary schools imply in practice, against the background of a local context. In particular, the conditions for learning. My approach is ethnographically inspired and this multiple case study is limited to two upper secondary school programmes. Data has been collected through observations, video recordings, informal conversations with pupils and teachers and formal conversations with headmasters. The material is analyzed in terms of three socioculturally inspiring foci. By means of a cultural-institutional focus, the stability and changeability of the programmes were elucidated. The previous institutional frameworks have been partially questioned by the teachers in the field, which has resulted in the following: In one of the upper secondary schools a new locally adapted programme has been composed, and courses and subjects have been integrated in a new way in the other school’s existing programme. The changes in the upper secondary programmes are to a great extent an example of a meeting between top-down and bottom-up initiatives. The changes of the institutional frameworks are connected to a discursive shift of the responsibility for pupils’ learning and education from teachers to pupils and also to teacher’s ambition to adapt interest- and experience-related teaching. In a situated focus, both programmes were identified as communities of practice with a joint enterprise, mutual engagement and a shared repertoire. These three dimensions were useful for examining specific aspects of the teaching. There has above all been an altered balance between reification and participation in the teaching as well as boundary crossing both outside the community of practice and within the community. Different conditions for learning were identified through an interpersonal focus. Both collaborative learning and cooperative learning were useful, but not sufficient concepts for describing the various forms of team learning. The conditions of cooperation and the pupils’ communication patterns revealed yet another form of team learning, which I call comparative learning. If the risk of everyday concepts getting the upper hand and trivialization can be avoided in team learning, there is in all these learning processes a potential for the pupils being able to develop strategies for handling complex tasks, taking initiatives and responsibility, cooperating and learning from one another in various different ways. In this way entrepreneurship has had an impact on the practice of the classrooms.
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