| 1. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 2. |
- Birney, Ewan, et al.
(författare)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
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Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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| 3. |
- Fine, Jo-David, et al.
(författare)
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The classification of inherited epidermolysis bullosa (EB) : Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
- 2008
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Ingår i: The Journal of American Academy of Dermatology. - : Elsevier BV. - 0190-9622 .- 1097-6787. ; 58:6, s. 931-950
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Since publication in 2000 of the Second International Consensus Report on Diagnosis and Classification of Epidermolysis Bullosa, many advances have been made to our understanding of this group of diseases, both clinically and molecularly. At the same time, new epidermolysis bullosa (EB) subtypes have been described and similarities with some other diseases have been identified. OBJECTIVE: We sought to arrive at a new consensus of the classification of EB subtypes. RESULTS: We now present a revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility. Current recommendations are made on the use of specific diagnostic tests, with updates on the findings known to occur within each of the major EB subtypes. Electronic links are also provided to informational and laboratory resources of particular benefit to clinicians and their patients. LIMITATIONS: As more becomes known about this disease, future modifications may be needed. The classification system has been designed with sufficient flexibility for these modifications. CONCLUSION: This revised classification system should assist clinicians in accurately diagnosing and subclassifying patients with EB.
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| 6. |
- Maisel, Alan, et al.
(författare)
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State of the art : Using natriuretic peptide levels in clinical practice
- 2008
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Ingår i: European Journal of Heart Failure. - : Wiley. - 1388-9842 .- 1879-0844. ; 10:9, s. 824-839
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Tidskriftsartikel (refereegranskat)abstract
- Natriuretic peptide (NP) levels (B-type natriuretic peptide (BNP) and N-terminal proBNP) are now widely used in clinical practice and cardiovascular research throughout the world and have been incorporated into most national and international cardiovascular guidelines for heart failure. The role of NP levels in state-of-the-art clinical practice is evolving rapidly. This paper reviews and highlights ten key messages to clinicians:•NP levels are quantitative plasma biomarkers of heart failure (HF).•NP levels are accurate in the diagnosis of HF.•NP levels may help risk stratify emergency department (ED) patients with regard to the need for hospital admission or direct ED discharge.•NP levels help improve patient management and reduce total treatment costs in patients with acute dyspnoea.•NP levels at the time of admission are powerful predictors of outcome in predicting death and re-hospitalisation in HF patients.•NP levels at discharge aid in risk stratification of the HF patient.•NP-guided therapy may improve morbidity and/or mortality in chronic HF.•The combination of NP levels together with symptoms, signs and weight gain assists in the assessment of clinical decompensation in HF.•NP levels can accelerate accurate diagnosis of heart failure presenting in primary care.•NP levels may be helpful to screen for asymptomatic left ventricular dysfunction in high-risk patients.
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| 7. |
- Sonnenwald, Diane H., et al.
(författare)
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Experimental comparison of 2D and 3D technology mediated paramedic-physician collaboration in remote emergency medical situations
- 2006
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Ingår i: Proceedings of the 69th Annual Meeting of the American Society of Information Science & Technoligy (ASIS&T). - : American Society for Information Science and Technology.
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Konferensbidrag (refereegranskat)abstract
- We are investigating the potential of 3D telepresence technology to support collaboration among geographically separated medical personnel in trauma emergency care situations. 3D telepresence technology has the potential to provide richer visual information than current 2D video conferencing techniques. This may be of benefit in diagnosing and treating patients in emergency situations where specialized medical expertise is not locally available. We conducted an experimental evaluation, simulating an emergency medical situation and examining the interaction between the attending paramedic and remote, consulting physician. Post-questionnaire data illustrate that the information provided by the consulting physician was perceived to be more useful by the paramedic in the 3D condition than the 2D condition. However, the data pertaining to the quality of interaction and trust between the consulting physician and paramedic showed mixed results. The implications of these results are discussed.
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| 8. |
- Sonnenwald, Diane H., et al.
(författare)
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Exploring the potential of video technologies for collaboration in emergency medical care : Part I. Information sharing
- 2008
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Ingår i: Journal of The American Society For Information Science And Technology. - : John Wiley & Sons, Inc.. - 1532-2882 .- 1532-2890. ; 59:14, s. 2320-2334
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Tidskriftsartikel (refereegranskat)abstract
- We are investigating the potential of 3D telepresence, or televideo, technology to support collaboration among geographically separated medical personnel in trauma emergency care situations. 3D telepresence technology has the potential to provide richer visual information than current 2D videoconferencing techniques. This may be of benefit in diagnosing and treating patients in emergency situations where specialized medical expertise is not locally available. The 3D telepresence technology does not yet exist, and there is a need to understand its potential before resources are spent on its development and deployment. This poses a complex challenge. How can we evaluate the potential impact of a technology within complex, dynamic work contexts when the technology does not yet exist? To address this challenge, we conducted an experiment with a posttest, between-subjects design that takes the medical situation and context into account. In the experiment, we simulated an emergency medical situation involving practicing paramedics and physicians, collaborating remotely via two conditions: with today's 2D videoconferencing and a 3D telepresence proxy. In this article, we examine information sharing between the attending paramedic and collaborating physician. Postquestionnaire data illustrate that the information provided by the physician was perceived to be more useful by the paramedic in the 3D proxy condition than in the 2D condition; however, data pertaining to the quality of interaction and trust between the collaborating physician and paramedic show mixed results. Postinterview data help explain these results.
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