| 1. |
|
|
| 2. |
- Adamczewski-Musch, J., et al.
(författare)
-
Production and electromagnetic decay of hyperons : a feasibility study with HADES as a phase-0 experiment at FAIR
- 2021
-
Ingår i: European Physical Journal A. - : Springer Nature. - 1434-6001 .- 1434-601X. ; 57:4
-
Tidskriftsartikel (refereegranskat)abstract
- A feasibility study has been performed in order to investigate the performance of the HADES detector to measure the electromagnetic decays of the hyperon resonances Sigma(1385)(0), Lambda(1405) and Lambda(1520) as well as the production of double strange baryon systems Xi(-) and Lambda Lambda in p + p reactions at a beam kinetic energy of 4.5GeV. The existing HADES detector will be upgraded by a new Forward Detector, which extends the detector acceptance into a range of polar angles that plays a crucial role for these investigations. The analysis of each channel is preceded by a consideration of the production cross-sections. Afterwards the expected signal count rates using a target consisting of either liquid hydrogen or polyethylene are summarized.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Clark, Adam Thomas, et al.
(författare)
-
General statistical scaling laws for stability in ecological systems
- 2021
-
Ingår i: Ecology Letters. - : Wiley. - 1461-023X .- 1461-0248. ; 24:7, s. 1474-1486
-
Tidskriftsartikel (refereegranskat)abstract
- Ecological stability refers to a family of concepts used to describe how systems of interacting species vary through time and respond to disturbances. Because observed ecological stability depends on sampling scales and environmental context, it is notoriously difficult to compare measurements across sites and systems. Here, we apply stochastic dynamical systems theory to derive general statistical scaling relationships across time, space, and ecological level of organisation for three fundamental stability aspects: resilience, resistance, and invariance. These relationships can be calibrated using random or representative samples measured at individual scales, and projected to predict average stability at other scales across a wide range of contexts. Moreover deviations between observed vs. extrapolated scaling relationships can reveal information about unobserved heterogeneity across time, space, or species. We anticipate that these methods will be useful for cross-study synthesis of stability data, extrapolating measurements to unobserved scales, and identifying underlying causes and consequences of heterogeneity.
|
|
| 6. |
- Cossee, Mireille, et al.
(författare)
-
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
- 1999
-
Ingår i: Annals of Neurology. - 0364-5134 .- 1531-8249. ; 45:2, s. 200-206
-
Tidskriftsartikel (refereegranskat)abstract
- Friedreich's ataxia is the most common inherited ataxia. Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansion and a frataxin point mutation. We report here the identification of 10 novel frataxin point mutations, and the detection of a previously described mutation (G130V) in two additional families. Most truncating mutations were in exon 1. All missense mutations were in the last three exons coding for the mature frataxin protein. The clinical features of 25 patients with identified frataxin point mutations were compared with those of 196 patients homozygous for the GAA expansion. A similar phenotype resulted from truncating mutations and from missense mutations in the carboxy-terminal half of mature frataxin, suggesting that they cause a comparable loss of function. In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function. The incidence of optic disk pallor was higher in compound heterozygotes than in expansion homozygotes, which might correlate with a very low residual level of normal frataxin produced from the expanded allele.
|
|
| 7. |
- Debacker, Michel, et al.
(författare)
-
Utstein-style template for uniform data reporting of acute medical response in disasters
- 2012
-
Ingår i: PLOS Currents. - : Public Library of Science (PLoS). - 2157-3999. ; 4, s. e4f6cf3e8df15a-
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: In 2003, the Task Force on Quality Control of Disaster Management (WADEM) published guidelines for evaluation and research on health disaster management and recommended the development of a uniform data reporting tool. Standardized and complete reporting of data related to disaster medical response activities will facilitate the interpretation of results, comparisons between medical response systems and quality improvement in the management of disaster victims.METHODS: Over a two-year period, a group of 16 experts in the fields of research, education, ethics and operational aspects of disaster medical management from 8 countries carried out a consensus process based on a modified Delphi method and Utstein-style technique.RESULTS: The EMDM Academy Consensus Group produced an Utstein-style template for uniform data reporting of acute disaster medical response, including 15 data elements with indicators, that can be used for both research and quality improvement.CONCLUSION: It is anticipated that the Utstein-style template will enable better and more accurate completion of reports on disaster medical response and contribute to further scientific evidence and knowledge related to disaster medical management in order to optimize medical response system interventions and to improve outcomes of disaster victims.
|
|
| 8. |
|
|
| 9. |
- Ou, Anna H., et al.
(författare)
-
Lithium response in bipolar disorder is associated with focal adhesion and PI3K-Akt networks: a multi-omics replication study
- 2024
-
Ingår i: TRANSLATIONAL PSYCHIATRY. - 2158-3188. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Lithium is the gold standard treatment for bipolar disorder (BD). However, its mechanism of action is incompletely understood, and prediction of treatment outcomes is limited. In our previous multi-omics study of the Pharmacogenomics of Bipolar Disorder (PGBD) sample combining transcriptomic and genomic data, we found that focal adhesion, the extracellular matrix (ECM), and PI3K-Akt signaling networks were associated with response to lithium. In this study, we replicated the results of our previous study using network propagation methods in a genome-wide association study of an independent sample of 2039 patients from the International Consortium on Lithium Genetics (ConLiGen) study. We identified functional enrichment in focal adhesion and PI3K-Akt pathways, but we did not find an association with the ECM pathway. Our results suggest that deficits in the neuronal growth cone and PI3K-Akt signaling, but not in ECM proteins, may influence response to lithium in BD.
|
|
| 10. |
- Pattaro, Cristian, et al.
(författare)
-
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
- 2016
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
-
Tidskriftsartikel (refereegranskat)abstract
- Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
|
|
