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- 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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| 5. |
- Buitrago-Téllez, C. H., et al.
(författare)
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A comprehensive classification of mandibular fractures : a preliminary agreement validation study
- 2008
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Ingår i: International Journal of Oral and Maxillofacial Surgery. - : Elsevier BV. - 0901-5027 .- 1399-0020. ; 37:12, s. 1080-8
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Tidskriftsartikel (refereegranskat)abstract
- This study evaluates a comprehensive classification system for mandibular fractures based on imaging analysis. The AO/ASIF scheme, defining three fracture types (A, B, C), three groups within each type (e.g. A1, A2, A3) and three subgroups within each group (e.g. A1.1, A1.2, A1.3) with increasing severity from A1.1 (lowest) to C3.3 (highest) was used. The mandible is divided into two vertical units (I and V), two lateral horizontal units (II and IV) and one central unit (III) comprising the symphyseal and parasymphyseal region. Type A fractures are non-displaced, type B are displaced and type C are multifragmentary/defect injuries. Groups and subgroups are further defined in the classification system. Two classification sessions using semi-automatic software with 7 and 9 surgeons were performed to evaluate 100 fracture cases in the first session and 50 in the second. Inter-observer reliability and individual rater's accuracy were evaluated by kappa coefficient and latent class analysis, respectively. The analysis of inter-observer agreement for the detailed coding showed kappa coefficients around 0.50 with higher agreement among raters in the vertical units. This system allows standardization of documentation of mandibular fractures, although improvement in the definition of categories and their application is required.
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| 6. |
- Engelfriet, P, et al.
(författare)
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Adherence to guidelines in the clinical care for adults with congenital heart disease: The Euro Heart Survey on adult congenital heart disease
- 2006
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Ingår i: European Heart Journal. - : Oxford University Press (OUP). - 1522-9645 .- 0195-668X. ; 27:6, s. 737-745
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Tidskriftsartikel (refereegranskat)abstract
- Aims To investigate the role of guidelines in structuring the clinical care for adult patients with congenital heart disease (CHD), and to assess adherence to the guidelines in Europe. Methods and results A selected number of current guidelines were chosen pertaining to operative procedures, investigations, and the use of medication ('interventions'). The source for this analysis was the database of the Euro Heart Survey on adult CHD, which contains retrospectively collected data on 4110 patients followed-up for a median of 5.1 years. For each guideline investigated, patients were selected from the database for whom the particular guideline was relevant. The selected cases were classified according to two criteria: was there an indication for the particular intervention and did the intervention take place? In this manner, cases of 'undue treatment' and 'insufficient treatment' were identified. Adherence to guidelines was found to be good in the case of operative procedures and prophylactic drug treatment. However, regarding diagnostic procedures there had been adherence to guidelines in only slightly more than half of the cases. Conclusion Guidelines have an important role in the actual clinical care of adults with CHD. However, large outcome studies are needed to develop more precise guidelines.
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| 7. |
- Engelfriet, P, et al.
(författare)
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The spectrum of adult congenital heart disease in Europe: morbidity and mortality in a 5 year follow-up period - The Euro Heart Survey on adult congenital heart disease
- 2005
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Ingår i: European Heart Journal. - : Oxford University Press (OUP). - 1522-9645 .- 0195-668X. ; 26:21, s. 2325-2333
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Tidskriftsartikel (refereegranskat)abstract
- Aims To describe clinical and demographic characteristics at baseline of a European cohort of adults with congenital heart disease (CHD) and to assess mortality and morbidity in a 5 year follow-up period. Methods and results Data collected as part of the Euro Heart Survey on adult CHD was analysed. This entailed information transcribed from the files of 4110 patients diagnosed with one of eight congenital heart conditions ('defects'), who consecutively visited the outpatient clinics of one of the participating centres in 1998. The patients were included retrospectively and followed until the end of 2003 for a median follow-up of 5.1 years. Notwithstanding their overall relatively good functional class and low mortality over the follow-up period, a considerable proportion of the patients had a history of endocarditis, arrhythmias, or vascular events. There were major differences between the eight defects, both in morbidity and regarding specific characteristics. Outcomes were worst in cyanotic defects and in the Fontan circulation, but a considerable proportion of the other patients also suffer from cardiac symptoms. In particular, arrhythmias are common. Conclusion The spectrum of adult CHD in Europe emerging from this survey is one of a predominantly young population with substantial morbidity but relatively low mortality in a 5 year period.
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| 8. |
- Knight, C, et al.
(författare)
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Hydrogen bond topology and the ice VII/VIII and Ih/XI proton ordering phase transitions
- 2006
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Ingår i: Physical Review E. Statistical, Nonlinear, and Soft Matter Physics. - 1063-651X .- 1095-3787. ; 73, s. 056113-056113
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Tidskriftsartikel (refereegranskat)abstract
- Ice Ih, ordinary ice at atmospheric pressure, is a proton-disordered crystal that when cooled under special conditions is believed to transform to ferroelectric proton-ordered ice XI, but this transformation is still subject to controversy. Ice VII, also proton disordered throughout its region of stability, transforms to proton-ordered ice VIII upon cooling. In contrast to the ice Ih/XI transition, the VII/VIII transition and the crystal structure of ice VIII are well characterized. In order to shed some light on the ice Ih proton ordering transition, we present the results of periodic electronic density functional theory calculations and statistical simulations. We are able to describe the small energy differences among the innumerable H-bond configurations possible in a large simulation cell by using an analytic theory to extrapolate from electronic DFT calculations on small unit cells to cells large enough to approximate the thermodynamic limit. We first validate our methods by comparing our predictions to the well-characterized ice VII/VIII proton ordering transition, finding agreement with respect to both the transition temperature and structure of the low-temperature phase. For ice Ih, our results indicate that a proton-ordered phase is attainable at low temperatures, the structure of which is in agreement with the experimentally proposed ferroelectric Cmc21 structure. The predicted transition temperature of 98 K is in qualitative agreement with the observed transition at 72 K on KOH-doped ice samples.
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