56 research outputs found
Thoughts on opportunities in high-energy nuclear collisions
This document reflects thoughts on opportunities from high-energy nuclear
collisions in the 2020s.Comment: 10 pages, pd
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson\u27s disease: The GenePD study
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
<p>Abstract</p> <p>Background</p> <p>We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (<it>LRRK2</it>)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen <it>LRRK2 </it>mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of <it>LRRK2 </it>mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD.</p> <p>Methods</p> <p>A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different <it>LRRK2 </it>mutations. Penetrance was estimated in families of <it>LRRK2 </it>carriers with consideration of the inherent bias towards increased penetrance in a familial sample.</p> <p>Results</p> <p>Thirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 <it>LRRK2 </it>mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the <it>LRRK2 </it>mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-<it>LRRK2</it>-related PD families.</p> <p>Conclusion</p> <p>Lifetime penetrance of <it>LRRK2 </it>estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained <it>LRRK2 </it>cases, suggesting that inherited susceptibility factors may modify the penetrance of <it>LRRK2 </it>mutations. In addition, the presence of nine PD phenocopies in the <it>LRRK2 </it>families suggests that these susceptibility factors may also increase the risk of non-<it>LRRK2</it>-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for <it>LRRK2 </it>carriers are independent of the factors which increase PD prevalence in men.</p
The James Webb Space Telescope Mission
Twenty-six years ago a small committee report, building on earlier studies,
expounded a compelling and poetic vision for the future of astronomy, calling
for an infrared-optimized space telescope with an aperture of at least .
With the support of their governments in the US, Europe, and Canada, 20,000
people realized that vision as the James Webb Space Telescope. A
generation of astronomers will celebrate their accomplishments for the life of
the mission, potentially as long as 20 years, and beyond. This report and the
scientific discoveries that follow are extended thank-you notes to the 20,000
team members. The telescope is working perfectly, with much better image
quality than expected. In this and accompanying papers, we give a brief
history, describe the observatory, outline its objectives and current observing
program, and discuss the inventions and people who made it possible. We cite
detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space
Telescope Overview, 29 pages, 4 figure
Recent heavy-flavor measurements with the ATLAS detector
Measurements of open heavy-flavor hadron production in heavy-ion collisions provide a powerful tool to study both initial-state effects on heavy-quark production and final-state interactions between heavy-quarks and the quark-gluon plasma (QGP). These measurements are performed with the ATLAS detector at the LHC and capitalize on the large statistics of the Run 2 Pb+Pb dataset. This talk presents published results on the azimuthal anisotropy (2 and 3) of muons from heavy-flavor decays in Pb+Pb collisions, as well as new results on the nuclear modification factor (AA) for heavy-flavor muons, both in the region T>4 GeV. In both measurements, muons from charm and bottom hadrons are statistically separated using the transverse impact parameter with respect to the primary collision vertex. Muons from both charm and bottom hadrons are found to have significant azimuthal anisotropies in Pb+Pb collisions, with larger anisotropies for muons from charm hadrons than for muons from bottom hadrons. Muons from both sources are also observed to be strongly suppressed with respect to the baseline, in a way that depends on the mass of the parent hadron at low to moderate muon T. The simultaneous measurement of multiple observables (2, 3, and AA) for both charm and bottom with the same detector and technique is particularly crucial in providing constraints on state of the art theoretical predictions
Longitudinal decorrelation measurements from pp to A+A with the ATLAS detectoror
his talk presents new measurements of longitudinal flow decorrelations in 5.02 TeV and 13 TeV pp collisions and 5.44 TeV Xe+Xe collisions with the ATLAS detector. The measurements are performed using the two-particle correlation method with charged-particle tracks within |eta| < 2.5 and clusters within 4.0 < |eta| < 4.9. Due to the larger influence of non-flow effects in small collision systems, template-based subtraction procedures are developed and applied to the measurement. These effects are observed to play a role even in large systems such as 5.44 TeV Xe+Xe collisions. Flow decorrelations are characterized in terms of the ratio of the correlations with a large pseudorapidity gap to those with small pseudorapidity gap, r_n, where n is the flow harmonic moment. Results are reported for the slope of r_2 as a function of pseudorapidity gap as a function of charged-particle multiplicity for the pp and Xe+Xe collision systems. This gives some of the first detailed information on the correlation between longitudinal and transverse energy deposition in pp collisions
Strong constraints on jet modification in centrality-dependent p+Pb collisions by ATLAS
Small systems such as pp or p+Pb collisions exhibit evidence of collective behavior strikingly similar to that in Pb+Pb collisions. However, while jet quenching is readily observed in Pb+Pb collisions, no evidence has been found in small systems to date, raising fundamental questions about the nature of the system created in these collisions. This talk reports a measurement by the ATLAS experiment at the LHC which sets new, precise constraints on the possible amount of jet modification in central p+Pb events. To avoid possible biases on the centrality classification of p+Pb events, the collision centrality is categorized by the energy deposited by forward neutrons from the struck nucleus in the Zero Degree Calorimeter (ZDC). The measurement reports the yield of charged hadrons near and opposite in azimuth to reconstructed jets in p+Pb and pp collisions at 5.02 TeV. The ratio between p+Pb and pp, called the pPb, is consistent with unity within a few percent for hadrons with T 4 GeV at all centralities. These data provide new, strong constraints and can be used to set a quantitative limit on jet modification in central p+Pb collisions within a simple model
Heavy flavor production and modification in ATLAS
Measurements of open heavy-flavor hadron and heavy-flavor jet production in heavy-ion collisions provide a powerful tool to study both initial-state effects on heavy-quark production and final-state interactions between heavy quarks and the Quark-Gluon Plasma (QGP). These measurements are performed with the ATLAS detector at the LHC and capitalize on the large statistics of the Run 2 Pb+Pb dataset. This talk presents published results on the azimuthal anisotropy
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