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| 2. |
- Bellenguez, C, et al.
(author)
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New insights into the genetic etiology of Alzheimer's disease and related dementias
- 2022
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
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Journal article (peer-reviewed)abstract
- Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
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| 3. |
- Edelson, R. A., et al.
(author)
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Multiwavelength observations of short-timescale variability in NGC 4151. IV. Analysis of multiwavelength continuum variability
- 1996
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In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 470:1, s. 364-377377
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Journal article (peer-reviewed)abstract
- For pt.III see ibid., vol.470, no.1, p.349-63 (1996). Combines data from the three preceding papers in order to analyze the multi wave-band variability and spectral energy distribution of the Seyfert 1 galaxy NGC 4151 during the 1993 December monitoring campaign. The source, which was near its peak historical brightness, showed strong, correlated variability at X-ray, ultraviolet, and optical wavelengths. The strongest variations were seen in medium-energy (~1.5 keV) X-rays, with a normalized variability amplitude (NVA) of 24%. Weaker (NVA=6%) variations (uncorrelated with those at lower energies) were seen at soft gamma-ray energies of ~100 keV. No significant variability was seen in softer (0.1-1 keV) X-ray bands. In the ultraviolet/optical regime, the NVA decreased from 9% to 1% as the wavelength increased from 1275 to 6900 Aring. These data do not probe extreme ultraviolet (1200 Aring to 0.1 keV) or hard X-ray (250 keV) variability. The phase differences between variations in different bands were consistent with zero lag, with upper limits of lsim0.15 day between 1275 Aring and the other ultraviolet bands, lsim0.3 day between 1275 Aring and 1.5 keV, and lsim1 day between 1275 and 5125 Aring. These tight limits represent more than an order of magnitude improvement over those determined in previous multi-wave-band AGN monitoring campaigns. The ultraviolet fluctuation power spectra showed no evidence for periodicity, but were instead well fitted with a very steep, red power law (ales-2.5)
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| 4. |
- Crenshaw, D. M., et al.
(author)
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Multiwavelength observations of short-timescale variability in NGC 4151. I. Ultraviolet observations
- 1996
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In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 470:1, s. 322-335335
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Journal article (peer-reviewed)abstract
- Presents the results of an intensive ultraviolet monitoring campaign on the Seyfert 1 galaxy NGC 4151, as part of an effort to study its short-timescale variability over a broad range in wavelength. The nucleus of NGC 4151 was observed continuously with the International Ultraviolet Explorer for 9.3 days, yielding a pair of LWP and SWP spectra every ~70 minutes, and during 4 hr periods for 4 days prior to and 5 days after the continuous-monitoring period. The sampling frequency of the observations is an order of magnitude higher than that of any previous UV monitoring campaign on a Seyfert galaxy. The continuum fluxes in bands from 1275 to 2688 Aring went through four significant and well-defined ldquoeventsrdquo of duration 2-3 days during the continuous-monitoring period. The authors find that the amplitudes of the continuum variations decrease with increasing wavelength, which extends a general trend for this and other Seyfert galaxies to smaller timescales (i.e., a few days). The continuum variations in all the UV bands are simultaneous to within an accuracy of ~0.15 days, providing a strict constraint on continuum models. The emission-line light curves show only one major event during the continuous monitoring (a slow rise followed by a shallow dip) and do not correlate well with continuum light curves over the short duration of the campaign, because the timescale for continuum variations is apparently smaller than the response times of the emission lines
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| 5. |
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| 6. |
- Ring, A. M., et al.
(author)
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Diffuse alveolar haemorrhage in children: an international multicentre study
- 2023
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In: ERJ Open Research. ; 9:2, s. 00733-2022
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Journal article (peer-reviewed)abstract
- Background Paediatric diffuse alveolar haemorrhage (DAH) is a rare heterogeneous condition with limited knowledge on clinical presentation, treatment and outcome. Methods A retrospective, descriptive multicentre follow-up study initiated from the European network for translational research in children's and adult interstitial lung disease (Cost Action CA16125) and chILD-EU CRC (the European Research Collaboration for Children's Interstitial Lung Disease). Inclusion criteria were DAH of any cause diagnosed before the age of 18 years. Results Data of 124 patients from 26 centres (15 counties) were submitted, of whom 117 patients fulfilled the inclusion criteria. Diagnoses were idiopathic pulmonary haemosiderosis (n=35), DAH associated with autoimmune features (n=20), systemic and collagen disorders (n=18), immuno-allergic conditions (n=10), other childhood interstitial lung diseases (chILD) (n=5), autoinflammatory diseases (n=3), DAH secondary to other conditions (n=21) and nonspecified DAH (n=5). Median (IQR) age at onset was 5 (2.0-12.9) years. Most frequent clinical presentations were anaemia (87%), haemoptysis (42%), dyspnoea (35%) and cough (32%). Respiratory symptoms were absent in 23%. The most frequent medical treatment was systemic corticosteroids (93%), hydroxychloroquine (35%) and azathioprine (27%). Overall mortality was 13%. Long-term data demonstrated persistent abnormal radiology and a limited improvement in lung function. Conclusions Paediatric DAH is highly heterogeneous regarding underlying causes and clinical presentation. The high mortality rate and number of patients with ongoing treatment years after onset of disease underline that DAH is a severe and often chronic condition. This large international study paves the way for further prospective clinical trials that will in the long term allow evidence-based treatment and follow-up recommendations to be determined.
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| 7. |
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| 8. |
- Burk, William J., et al.
(author)
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Beyond dyadic interdependence : actor-oriented models for co-evolving social networks and individual behaviors
- 2007
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In: International Journal of Behavioral Development. - : SAGE Publications. - 0165-0254 .- 1464-0651. ; 31:4, s. 397-404
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Journal article (peer-reviewed)abstract
- Actor-oriented models are described as a longitudinal strategy for examining the co-evolution of social networks and individual behaviors. We argue that these models provide advantages over conventional approaches due to their ability to account for inherent dependencies between individuals embedded in a social network (i.e., reciprocity, transitivity) and model interdependencies between network and behavioral dynamics. We provide a brief explanation of actor-oriented processes, followed by a description of parameter estimates, model specification, and selection procedures used by the Simulation Investigation for Empirical Network Analyses (SIENA) software program (Snijders, Steglich, Schweinberger, & Huisman, 2006). To illustrate the applicability of these models, we provide an empirical example investigating the co-evolution of friendship networks and delinquent behaviors in a longitudinal sample of Swedish adolescents with the goal of simultaneously assessing selection and influence processes. Findings suggest both processes play a substantive role in the observed dynamics of delinquent behaviors, with influence having a relatively stronger role than selection (especially in reciprocated friendships).
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| 9. |
- Hagberg, Jan, 1958-
(author)
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On Degree Variance in Random Graphs
- 2004
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Doctoral thesis (other academic/artistic)abstract
- This thesis is concerned with degree moments and degree variance in random graphs. The degree of vertex i in a graph is the number of edges incident to vertex i.In the first paper, degree moments and functions of degree moments are investigated for three random graph models. In statistical applications of random graph models the degree moments, and functions of the degree moments, have been found useful both as summary statistics and for inference on particular random graph models. Exact and asymptotic formulas are given for various degree statistics, in particular the degree variance.The second paper focus on the degree variance. Exact and asymptotic distributions of the degree variance are investigated for Bernoulli graphs and uniform random graphs. For graphs of large order, we show that the degree variance is approximately gamma distributed with parameters obtained from the first two moments of the degree variance. The usefulness of the results is illustrated by a graph centrality test with a critical value obtained from the gamma distribution.The third and last paper is concerned with extreme values and other attained values of the degree variance among graphs of fixed order and size, and among graphs of fixed order. The structure of the extreme graphs is investegated and it is shown that the maximum value of the degree variance can be obtained from integer sequences associated to the triangular numbers. Explicite formulas for the number of possible values and recurrence relations for the attained values of the degree variance are developed.
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| 10. |
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