| 1. |
- Hallor, Karolin H, et al.
(författare)
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Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors.
- 2009
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Ingår i: Clinical Cancer Research. - 1078-0432. ; 15:8, s. 2685-2694
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Histologic grade is currently the best predictor of clinical course in chondrosarcoma patients. Grading suffers, however, from extensive interobserver variability and new objective markers are needed. Hence, we have investigated DNA copy numbers in chondrosarcomas with the purpose of identifying markers useful for prognosis and subclassification. EXPERIMENTAL DESIGN: The overall pattern of genomic imbalances was assessed in a series of 67 chondrosarcomas using array comparative genomic hybridization. Statistical analyses were applied to evaluate the significance of alterations detected in subgroups based on clinical data, morphology, grade, tumor size, and karyotypic features. Also, the global gene expression profiles were obtained in a subset of the tumors. RESULTS: Genomic imbalances, in most tumors affecting large regions of the genome, were found in 90% of the cases. Several apparently distinctive aberrations affecting conventional central and peripheral tumors, respectively, were identified. Although rare, recurrent amplifications were found at 8q24.21-q24.22 and 11q22.1-q22.3, and homozygous deletions of loci previously implicated in chondrosarcoma development affected the CDKN2A, EXT1, and EXT2 genes. The chromosomal imbalances in two distinct groups of predominantly near-haploid and near-triploid tumors, respectively, support the notion that polyploidization of an initially hyperhaploid/hypodiploid cell population is a common mechanism of chondrosarcoma progression. Increasing patient age as well as tumor grade were associated with adverse outcome, but no copy number imbalance affected metastasis development or tumor-associated death. CONCLUSION: Despite similarities in the overall genomic patterns, the present findings suggest that some regions are specifically altered in conventional central and peripheral tumors, respectively.
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| 2. |
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| 3. |
- Davidsson, Åsa, et al.
(författare)
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Co-digestion of grease trap sludge and sewage sludge.
- 2008
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Ingår i: Waste Management: international journal of integrated waste management, science and technology. - : Elsevier BV. - 1879-2456. ; 28:6, s. 986-992
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Tidskriftsartikel (refereegranskat)abstract
- Redirection of organic waste, from landfilling or incineration, to biological treatment such as anaerobic digestion is of current interest in the Malmö-Copenhagen region. One type of waste that is expected to be suitable for anaerobic digestion is sludge from grease traps. Separate anaerobic digestion of this waste type and co-digestion with sewage sludge were evaluated. The methane potential was measured in batch laboratory tests, and the methane yield was determined in continuous pilot-scale digestion. Co-digestion of sludge from grease traps and sewage sludge was successfully performed both in laboratory batch and continuous pilot-scale digestion tests. The addition of grease trap sludge to sewage sludge digesters was seen to increase the methane yield of 9-27% when 10-30% of sludge from grease traps (on VS-basis) was added. It was also seen that the grease trap sludge increases the methane yield without increasing the sludge production. Single-substrate digestion of grease trap sludge gave high methane potentials in batch tests, but could not reach stable methane production in continuous digestion.
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| 5. |
- Jansen, Jurgen, et al.
(författare)
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Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
- 2007
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 92:6, s. 2378-2381
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Tidskriftsartikel (refereegranskat)abstract
- Context: T-3 action in neurons is essential for brain development. Recent evidence indicates that monocarboxylate transporter 8 (MCT8) is important for neuronal T-3 uptake. Hemizygous mutations have been identified in the X-linked MCT8 gene in boys with severe psychomotor retardation and elevated serum T-3 levels. Objective: The objective of this study was to determine the functional consequences of MCT8 mutations regarding transport of T-3. Design: MCT8 function was studied in wild-type or mutant MCT8-transfected JEG3 cells by analyzing: 1) T-3 uptake, 2) T-3 metabolism in cells cotransfected with human type 3 deiodinase, 3) immunoblotting, and 4) immunocytochemistry. Results: The mutations identified in MCT8 comprise four deletions (24.5 kb, 2.4 kb, 14 bp, and 3 bp), three missense mutations (Ala224Val, Arg271His, and Leu471Pro), a nonsense mutation (Arg245stop), and a splice site mutation (94 amino acid deletion). All tested mutants were inactive in uptake and metabolism assays, except MCT8 Arg271His, which showed approximately 20% activity vs. wild-type MCT8. Conclusion: These findings support the hypothesis that the severe psychomotor retardation and elevated serum T-3 levels in these patients are caused by inactivation of the MCT8 transporter, preventing action and metabolism of T-3 in central neurons.
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| 6. |
- Jansen, N. W. D., et al.
(författare)
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Digital scoring of haemophilic arthropathy using radiographs is feasible
- 2008
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 14:5, s. 999-1006
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Tidskriftsartikel (refereegranskat)abstract
- Radiographs are important tools to evaluate structural changes in many Joint diseases. In the case of haemophilic arthropathy (HA), the Pettersson score is widely used. The rising of digital radiography enables evaluation of these changes in a more quantitative and detailed manner, potentially improving diagnosis and follow-up. The aim of this study was to evaluate whether digital image analysis ill the case of HA is feasible, using a presently available method for radiographic changes in knee osteoarthritis (OA), knee image digital analysis (KIDA). Sixty-two knee radiographs were scored according to Pettersson and with KIDA, each by two independent observers. Inter-observer variation and correlations between the two scoring methods were determined. The inter-observer variation was smaller for KIDA than for Pettersson and for KIDA not significantly different from evaluation of OA joints. Good correlations were found for the two methods where comparison of parameters was appropriate. Importantly, for each of the parameters within one point in the ordinal Pettersson score, a large window still existed in the continuous KIDA grading. Digital analysis of radiographs to quantify joint damage in HA is feasible. The use of continuous variables, as used in a digital method Such as KIDA has the advantage that it enables objective and much more sensitive detection of small changes than by use of an ordinal analogue method Such as the Pettersson score. Based oil the present results, it would be worthwhile to adapt the KIDA method for the specific characteristics of HA and to extend the method to elbow and ankle radiographs.
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| 9. |
- Luijsterburg, MS, et al.
(författare)
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Heterochromatin protein 1 is recruited to various types of DNA damage
- 2009
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Ingår i: The Journal of cell biology. - : Rockefeller University Press. - 1540-8140 .- 0021-9525. ; 185:4, s. 577-586
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Tidskriftsartikel (refereegranskat)abstract
- Heterochromatin protein 1 (HP1) family members are chromatin-associated proteins involved in transcription, replication, and chromatin organization. We show that HP1 isoforms HP1-α, HP1-β, and HP1-γ are recruited to ultraviolet (UV)-induced DNA damage and double-strand breaks (DSBs) in human cells. This response to DNA damage requires the chromo shadow domain of HP1 and is independent of H3K9 trimethylation and proteins that detect UV damage and DSBs. Loss of HP1 results in high sensitivity to UV light and ionizing radiation in the nematode Caenorhabditis elegans, indicating that HP1 proteins are essential components of DNA damage response (DDR) systems. Analysis of single and double HP1 mutants in nematodes suggests that HP1 homologues have both unique and overlapping functions in the DDR. Our results show that HP1 proteins are important for DNA repair and may function to reorganize chromatin in response to damage.
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