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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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| 4. |
- Cooke, S.J., et al.
(författare)
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Developing a mechanistic understanding of fish migrations by linking telemetry with physiology, behavior, genomics and experimental biology: an interdisciplinary case study on adult fraser river sockeys salmon
- 2008
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Ingår i: Fisheries. ; 33:7, s. 321-338
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Tidskriftsartikel (refereegranskat)abstract
- Fish migration represents one of the most complex and intriguing biological phenomena in the animal kingdom. How do fish migrate such vast distances? What are the costs and benefits of migration? Some of these fundamental questions have been addressed through the use of telemetry. However, telemetry alone has not and will not yield a complete understanding of the migration biology of fish or provide solutions to problems such as identifying physical barriers to migration or understanding potential impacts of climate change. Telemetry can be coupled with other tools and techniques to yield new insights into animal biology. Using Fraser River sockeye salmon (Oncorhynchus nerka) as a model, we summarize the advances that we have made in understanding salmonid migration biology through the integration of disciplines (i.e., interdisciplinary research) including physiology, behavior, functional genomics, and experimental biology. We also discuss opportunities for using large-scale telemetry arrays and taking a more experimental approach to studies of fish migration that use telemetry (i.e., intervention studies involving endocrine implants, simulated migration studies) rather than simply focusing on descriptive or correlational techniques. Only through integrative and interdisciplinary research will it be possible to understand the mechanistic basis of fish migrations and to predict and possibly mitigate the consequences of anthropogenic impacts. Telemetry is a tool that has the potential to integrate research across disciplines and between the lab and the field to advance the science of fish migration biology. The techniques that we have applied to the study of Pacific salmon are equally relevant to other fish taxa in both marine and freshwater systems as well as migratory animals beyond ichthyofauna. The interdisciplinary approach used here was essential to address a pressing and complex conservation problem association with sockeye salmon migration.
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| 8. |
- Heck, J., et al.
(författare)
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Structure-property relationship in organometallic compounds regarding SHG
- 2007
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Ingår i: Linear and Nonlinear Optics of Organic Materials VII. - : SPIE - International Society for Optical Engineering. - 9780819468017 ; , s. R6530-R6530
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Konferensbidrag (refereegranskat)abstract
- Structure-property relationships based on experimental as well as theoretical results will be elucidated. For this purpose different dipolar organometallic compounds were synthesized and characterized. The alteration of the donor and acceptor termini in mono- and dinuclear sesquifulvalene complexes results in spectroscopic and even structural modifications. The structural and 1H NMR spectroscopic changes correlate with the experimentally obtained first hyperpolarizability. The potent electron-donating (D) group [(CpFeCO)2(μ-CO)(μ-C=CH-)] is combined with different electron-accepting units (A), yielding the push-pull complexes [(CpFeCO) 2(μ-CO)(μ-C=CH-CH=A)]. The extent of electron derealization within the π-bridge connecting the donor D and the acceptor A can be monitored by means of 1H NMR spectroscopy. A correlation between the 3J(Hβ-Hγ) coupling constants and the first hyperpolarizability is found, which very much resembles the dependence of the first hyperpolarizability on the bond length alternation. In order to elucidate the dependence of the NLO response on the conformation of triply branched NLOphores, a new series of dendritic D-π-A structures has been synthesized. A combined approach of experiments and computational predictions was applied both on the dendrimers and on the corresponding single-strand chromophores. These results demonstrate that theoretical calculations are able to reproduce experimental results and show the tendency of the effects due to structural changes.
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| 9. |
- Altimiras, Jordi, 1967-, et al.
(författare)
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Gastrointestinal blood flow and postprandial metabolism in swimming sea bass dicentrarchus labrax
- 2008
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Ingår i: Physiological and Biochemical Zoology. - : University of Chicago Press. - 1522-2152 .- 1537-5293. ; 81:5, s. 663-672
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Tidskriftsartikel (refereegranskat)abstract
- In trout and salmon, the metabolic costs of exercise and feeding are additive, which would suggest that gastrointestinal blood flow during exercise is maintained to preserve digestive and absorptive processes related to the specific dynamic action (SDA) of food. However, in most published studies, gastrointestinal blood flow drops during swimming, hypoxia, and general stress. To test whether gastrointestinal blood flow is spared during exercise after feeding, sea bass were instrumented with flow probes to measure cardiac output and celiacomesenteric blood flow while swimming in a respirometer before and after feeding. Swimming at 2 body lengths per second (bl s-1) increased metabolic rate considerably more than did feeding (208% vs. 32% increase, respectively, relative to resting), and a similar pattern was observed for cardiac output. In unfed fish, resting gastrointestinal blood flow was mL 13.8 ± 0.5 min-1 kg-1. After feeding, resting gastrointestinal blood flow increased by 82% but then decreased progressively with increasing swimming speeds. At 2 bl s-1, gastrointestinal blood flow in fed fish was not significantly different compared with that in unfed swimming fish, and, therefore, the data do not support the gastrointestinal sparing hypothesis. The magnitude of the SDA was maintained despite the decrease in gastrointestinal blood flow and the consequent reduction in oxygen supply to the gut. An estimate of maximal oxygen flow to the gastrointestinal tract after feeding yielded 2.6 mmol O2 h-1 kg-1, but this amount is not able to cover the oxygen demand of 3.16 mmol O2 h -1 kg-1. Therefore, the SDA must reflect metabolic processes in tissues other than those directly perfused by the celiacomesenteric artery. © 2008 by The University of Chicago. All rights reserved.
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| 10. |
- Clark, T.D., et al.
(författare)
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Calibration of a hand-held haemoglobin analyser for use on fish blood
- 2008
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Ingår i: Journal of Fish Biology. - : Wiley. - 0022-1112 .- 1095-8649. ; 73:10, s. 2587-2595
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Tidskriftsartikel (refereegranskat)abstract
- The HemoCue haemoglobin analyser consistently overestimated haemoglobin concentration ([Hb]) in the blood of all fish species (sockeye salmon Oncorhynchus nerka, Chinook salmon Oncorhynchus tshawytscha, Pacific bluefin tuna Thunnus orientalis and chub mackerel Scomber japonicus) by 22–50% (9·9–36·0 g l−1) over a [Hb] range of 20–160 g l−1. The systematic nature of the overestimation, however, allowed the formulation of an accurate calibration equation that can be used to correct values of [Hb] measured by the HemoCue in field studies.
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