| 1. |
|
|
| 2. |
- Kaasinen, E, et al.
(författare)
-
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1252-
-
Tidskriftsartikel (refereegranskat)abstract
- Clonal hematopoiesis driven by somatic heterozygous TET2 loss is linked to malignant degeneration via consequent aberrant DNA methylation, and possibly to cardiovascular disease via increased cytokine and chemokine expression as reported in mice. Here, we discover a germline TET2 mutation in a lymphoma family. We observe neither unusual predisposition to atherosclerosis nor abnormal pro-inflammatory cytokine or chemokine expression. The latter finding is confirmed in cells from three additional unrelated TET2 germline mutation carriers. The TET2 defect elevates blood DNA methylation levels, especially at active enhancers and cell-type specific regulatory regions with binding sequences of master transcription factors involved in hematopoiesis. The regions display reduced methylation relative to all open chromatin regions in four DNMT3A germline mutation carriers, potentially due to TET2-mediated oxidation. Our findings provide insight into the interplay between epigenetic modulators and transcription factor activity in hematological neoplasia, but do not confirm the putative role of TET2 in atherosclerosis.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
- Makinen, M, et al.
(författare)
-
Trainers' Attitudes towards Cardiopulmonary Resuscitation, Current Care Guidelines, and Training
- 2016
-
Ingår i: Emergency medicine international. - : Hindawi Limited. - 2090-2840 .- 2090-2859. ; 2016, s. 3701468-
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives. Studies have shown that healthcare personnel hesitate to perform defibrillation due to individual or organisational attitudes. We aimed to assess trainers’ attitudes towards cardiopulmonary resuscitation and defibrillation (CPR-D), Current Care Guidelines, and associated training.Methods. A questionnaire was distributed to CPR trainers attending seminars in Finland (N=185) focusing on the updated national Current Care Guidelines 2011. The questions were answered using Likert scale (1 = totally disagree, 7 = totally agree). Factor loading of the questionnaire was made using maximum likelihood analysis and varimax rotation. Seven scales were constructed (Hesitation,Nurse’s Role,Nontechnical Skill,Usefulness,Restrictions,Personal, andOrganisation). Cronbach’s alphas were 0.92–0.51. Statistics were Student’st-test, ANOVA, stepwise regression analysis, and Pearson Correlation.Results. The questionnaire was returned by 124/185, 67% CPR trainers, of whom two-thirds felt that their undergraduate training in CPR-D had not been adequate. Satisfaction with undergraduate defibrillation training correlated with theNontechnical Skillsscale (p<0.01). Participants scoring high onHesitationscale (p<0.01) were less confident about theirNurse’s Role(p<0.01) andNontechnical Skills(p<0.01).Conclusion. Quality of undergraduate education affects the work of CPR trainers and some feel uncertain of defibrillation. The train-the-trainers courses and undergraduate medical education should focus more on practical scenarios with defibrillators and nontechnical skills.
|
|
| 10. |
|
|
| 11. |
- Marschall, Tobias, et al.
(författare)
-
Computational pan-genomics : status, promises and challenges
- 2018
-
Ingår i: Briefings in Bioinformatics. - : Oxford University Press (OUP). - 1467-5463 .- 1477-4054. ; 19:1, s. 118-135
-
Tidskriftsartikel (refereegranskat)abstract
- Many disciplines, from human genetics and oncology to plant breeding, microbiology and virology, commonly face the challenge of analyzing rapidly increasing numbers of genomes. In case of Homo sapiens, the number of sequenced genomes will approach hundreds of thousands in the next few years. Simply scaling up established bioinformatics pipelines will not be sufficient for leveraging the full potential of such rich genomic data sets. Instead, novel, qualitatively different computational methods and paradigms are needed. We will witness the rapid extension of computational pan-genomics, a new sub-area of research in computational biology. In this article, we generalize existing definitions and understand a pan-genome as any collection of genomic sequences to be analyzed jointly or to be used as a reference. We examine already available approaches to construct and use pan-genomes, discuss the potential benefits of future technologies and methodologies and review open challenges from the vantage point of the above-mentioned biological disciplines. As a prominent example for a computational paradigm shift, we particularly highlight the transition from the representation of reference genomes as strings to representations as graphs. We outline how this and other challenges from different application domains translate into common computational problems, point out relevant bioinformatics techniques and identify open problems in computer science. With this review, we aim to increase awareness that a joint approach to computational pan-genomics can help address many of the problems currently faced in various domains.
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
- Heinonen, HR, et al.
(författare)
-
Global metabolomic profiling of uterine leiomyomas
- 2017
-
Ingår i: British journal of cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 117:12, s. 1855-1864
-
Tidskriftsartikel (refereegranskat)
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
|
|
