En risikovurderingsprosess i fra skrivebord til praksis

Master's thesis in Change managementEn kvalitiativ casestudie av en risikovurderingsprosess I fra skrivebord til praksis. En undersøkelse av bakenforliggende faktorer som kan ha påvirkning på implementering av en arbeidsprosess

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature

Background: Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. Methods: Data were collected via a structured questionnaire. Sequencing was performed in these patients mostly due to diagnostic purpose. A little more than half of the AXIN2 variant carriers were identified by NGS; other six were family members. Results: Here, we report 13 individuals with a heterozygous AXIN2 pathogenic/likely pathogenic variant who have a variable expression of oligodontia-colorectal cancer syndrome (OMIM 608615) or oligodontia-cancer predisposition syndrome (ORPHA 300576). Three individuals from one family also had cleft palate, which might represent a new clinical feature of AXIN2 phenotype, also given the fact that AXIN2 polymorphisms have been found in association with oral clefting in population studies. AXIN2 has already been added to multigene cancer panel tests; further research should be conducted to determine whether it should be added to cleft lip/palate multigene panels. Conclusion: More clarity about oligodontia-colorectal cancer syndrome, about the variable expression, and associated cancer risks is needed to improve clinical management and to establish guidelines for surveillance. We collected information about the surveillance that was advised, which might support clinical management of these patients.</p

Timing and duration of constant light affects rainbow trout (Oncorhynchus mykiss) growth during autumn–spring grow-out in freshwater

Photoperiod enhancement of growth is becoming an area of increasing interest as a means of enhancing rainbow trout production efficiency in commercial practice. This paper examines the possible implications of shortening periods of constant light (LL) exposure on rainbow trout growth during autumn-spring grow out under ambient water temperatures in freshwater to portion size. Triplicate groups of juvenile all-female rainbow trout were permanently exposed to LL in October, November, December or January. Growth was monitored and compared to those maintained under a simulated natural photoperiod (SNP) until the following May. Permanent exposure to LL (all treatments) resulted in significantly greater weight gain of rainbow trout than those under SNP. Furthermore, greatest growth was achieved when fish were left permanently exposed to LL from October. These findings suggest there may be implications for fish farmers if the period of photoperiod exposure is reduced, or timing of application is not considered with regards to ambient water temperatures

The effects of daily ration on growth and smoltification in 0+ and 1+ Atlantic salmon (Salmo salar) parr

The effects of long-term variations in feed ration were studied during two experiments on Atlantic salmon parr. In the first experiment, three duplicate groups of approximately 500 salmon parr were fed at rates of 100%, 66% or 33% of the manufacturer’s recommendation from shortly after first feeding. Each group were exposed to a photoperiod regime which was expected to result in smoltification 9 months after first feeding. In the second experiment, three duplicate groups of 550 fish were fed 100%, 66% or 33% of the manufacturer’s recommendation from first feeding and exposed to a simulated natural photoperiod, which was expected to result in smoltification 13 months after first feeding. In both experiments fish size increased with ration, with recruitment to the upper modal group (UMG) of the population also related to ration (85-96%, 64-88% and 28-42% UMG fish for the full, two-thirds and one-third ration groups respectively, recorded at the conclusion of each experiment). Throughout each experiment the full and two-thirds ration fish maintained similar whole body lipid concentrations, although lipid concentrations in the one-third ration fish were generally lower. At the conclusion of experiment 1, gill Na+, K+-ATPase activity in UMG fish fed full rations reached 9.5 μmol ADP hydrolysed. mg-1. protein-1. h-1, whereas ATPase activities were lower in the other ration groups. In experiment 2, all groups had similar gill Na+, K+,-ATPase activities at the conclusion of the experiment (6.4-9.3 μmol ADP hydrolysed. mg-1. protein-1. h-1). Following 24h seawater challenges, conducted during the parr-smolt transformation, UMG fish from the full and two-thirds groups of experiment 1 displayed high survival rates (100%) and low serum osmolalities (335 mOsm.kg-1), with lower survival rates (75%) and higher serum osmolalities (370 mOsm.kg-1) recorded in the one-third ration fish. In experiment 2 similar survival rates (100%) and serum osmolalities (350 mOsm.kg-1) were found in all ration groups. It is concluded that under accelerated production regimes, feed restriction may result in underyearling Atlantic salmon smolts developing a poor hypo-osmoregulatory ability. Variations in ration significantly influence growth, although it is believed that growth is dependant on the maintenance of a specific lipid level in the body

Salivary gland branching morphogenesis: a quantitative systems analysis of the Eda/Edar/NFκB paradigm

<p>Abstract</p> <p>Background</p> <p>Ectodysplasin-A appears to be a critical component of branching morphogenesis. Mutations in mouse <it>Eda </it>or human <it>EDA </it>are associated with absent or hypoplastic sweat glands, sebaceous glands, lacrimal glands, salivary glands (SMGs), mammary glands and/or nipples, and mucous glands of the bronchial, esophageal and colonic mucosa. In this study, we utilized <it>Eda</it>^{<it>Ta </it>}(Tabby) mutant mice to investigate how a marked reduction in functional Eda propagates with time through a defined genetic subcircuit and to test the proposition that canonical NFκB signaling is sufficient to account for the differential expression of developmentally regulated genes in the context of <it>Eda </it>polymorphism.</p> <p>Results</p> <p>The quantitative systems analyses do not support the stated hypothesis. For most NFκB-regulated genes, the observed time course of gene expression is nearly unchanged in Tabby (<it>Eda</it>^<it>Ta</it>) as compared to wildtype mice, as is NFκB itself. Importantly, a subset of genes is dramatically differentially expressed in Tabby (<it>Edar</it>, <it>Fgf8</it>, <it>Shh</it>, <it>Egf</it>, <it>Tgfa</it>, <it>Egfr</it>), strongly suggesting the existence of an alternative Eda-mediated transcriptional pathway pivotal for SMG ontogeny. Experimental and <it>in silico </it>investigations have identified C/EBPα as a promising candidate.</p> <p>Conclusion</p> <p>In Tabby SMGs, upregulation of the Egf/Tgfα/Egfr pathway appears to mitigate the potentially severe abnormal phenotype predicted by the downregulation of Fgf8 and Shh. Others have suggested that the buffering of the phenotypic outcome that is coincident with variant Eda signaling could be a common mechanism that permits viable and diverse phenotypes, normal and abnormal. Our results support this proposition. Further, if branching epithelia use variations of a canonical developmental program, our results are likely applicable to understanding the phenotypes of other branching organs affected by <it>Eda </it>(<it>EDA</it>) mutation.</p

Molecular cloning, tissue expression and regulation of Liver X Receptor (LXR) transcription factors of Atlantic salmon (Salmo salar) and rainbow trout (Oncorhynchus mykiss)

Fish are important sources of high quality protein, essential minerals such as iodine and selenium, vitamins including A, D and E, and omega-3 fatty acids in the human diet. With declining fisheries worldwide, farmed fish constitute an ever-increasing proportion of fish in the food basket. Sustainable development of aquaculture dictates that diets will have to contain increasing levels of plant products that are devoid of cholesterol, but contain phytosterols that are known to have physiological effects in mammals. Liver X receptors (LXR) are transcription factors whose activity is modulated by sterols, with activation inducing cholesterol catabolism and de novo fatty acid biosynthesis in liver. Transcriptomic analysis has shown that substitution of fish meal and oil with plant products induces genes of cholesterol and fatty acid metabolism in salmonids. Here we report the cloning of LXR cDNAs from two species of salmonid fish that are important in aquaculture. The full-length cDNA (mRNA) of LXR obtained from salmon was shown to be 3766 bp, which included a 5’-untranslated region (UTR) of 412 bp and a 3’-UTR of 1960 bp and an open reading frame (ORF) of 1394 bp, which specified a protein of 462 amino acids. The trout LXR full-length cDNA was 2056 bp, including 5’- and 3’-UTRs of 219 and 547 bp, respectively, and an ORF of 1290 bp, which specified a protein of 427 amino acids. The protein sequences included characteristic features of mammalian LXRs, including the DNA binding (DBD), containing P-box, ligand binding (LBD) and activation function-2 (AF-2) domains, D-box, D (hinge) region, and eight cysteines that belong to the two zinc fingers. Phylogenetic analysis clustered the salmonid LXRs together, more closely with zebrafish and more distantly from medaka and stickleback. A pair-wise comparison among vertebrate LXR sequences showed the amino acid sequence predicted by the salmon LXR ORF showed greatest identity to that of trout 97%, and 97%, 87% and 81% identity to LXRs of zebrafish, frog and human (LXRα). The trout LXR ORF showed 96%, 92% and 82% identity to LXRs of zebrafish, frog and human (LXRα). Surprisingly, the expression of LXR was lowest in liver of all tissues examined and in salmon the greatest expression was observed in pyloric caeca with liver showing intermediate expression. It is likely that tissue expression was affected by the physiological status of the sampled animals. Certainly, nutritional, environmental and/or developmental regulation was evident in salmon, where the expression of LXR in liver was higher in fish in seawater than in freshwater, and higher in fish fed fish oil compared to fish fed vegetable oil in adult salmon

Production of virgin coconut oil via centrifugation and oven methods

The conventional ways of breaking emulsions using heat is disadvantageous from the both economic and environmental perspectives. In this study, the production of virgin coconut oil from coconut oil milk was investigated. Centrifugation and hot method were used for separation of oil. Analysis was carried out by gas chromatography. Results show that, production of virgin coconut oil increases with increasing centrifugal speed. The optimum temperature required to maintain the nutrition oil oil was found to be 60oC. Experimental data also presented to show the influence of Triton –X-100, Tween 20 and SDDS on stability of virgin coconut oil emulsion