The PROSPECT and STEREO collaborations present a combined measurement of the pure 235U antineutrino spectrum, without site specific corrections or detector-dependent effects. The spectral ...measurements of the two highest precision experiments at research reactors are found to be compatible with χ2/ndf = 24.1/21, allowing a joint unfolding of the prompt energy measurements into antineutrino energy. This $\bar{ν}_e$ energy spectrum is provided to the community, and an excess of events relative to the Huber model is found in the 5-6 MeV region. When a Gaussian bump is fitted to the excess, the data-model χ2 value is improved, corresponding to a 2.4σ significance.
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IMPORTANCE While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk ...factor for other Lewy body disorders. OBJECTIVE To establish whether GBA1 mutations are a risk factor for dementia with Lewy bodies (DLB). DESIGN We compared genotype data on patients and controls from 11 centers. Data concerning demographics, age at onset, disease duration, and clinical and pathological features were collected when available. We conducted pooled analyses using logistic regression to investigate GBA1 mutation carrier status as predicting DLB or PD with dementia status, using common control subjects as a reference group. Random-effects meta-analyses were conducted to account for additional heterogeneity. SETTING Eleven centers from sites around the world performing genotyping. PARTICIPANTS Seven hundred twenty-one cases met diagnostic criteria for DLB and 151 had PD with dementia. We compared these cases with 1962 controls from the same centers matched for age, sex, and ethnicity. MAIN OUTCOME MEASURES Frequency of GBA1 mutations in cases and controls. RESULTS We found a significant association between GBA1 mutation carrier status and DLB, with an odds ratio of 8.28 (95% CI, 4.78-14.88). The odds ratio for PD with dementia was 6.48 (95% CI, 2.53-15.37). The mean age at diagnosis of DLB was earlier in GBA1 mutation carriers than in noncarriers (63.5 vs 68.9 years; P < .001), with higher disease severity scores. CONCLUSIONS AND RELEVANCE Mutations in GBA1 are a significant risk factor for DLB. GBA1 mutations likely play an even larger role in the genetic etiology of DLB than in PD, providing insight into the role of glucocerebrosidase in Lewy body disease.
We present petrologic and Secondary Ion Mass Spectrometry (SIMS) oxygen isotope analyses of Ca-carbonate within a group of paired Antarctic CM2 chondrites. The carbonates can be grouped into two ...isotopically and morphologically distinct populations. Type 1 grains (small matrix grains) possess average δ18O of 33.7±2.3‰ (1σ) and average Δ17O of −0.81‰±0.90‰ (1σ). Type 2 grains (calcite aggregates) possess distinct oxygen isotopic compositions, average δ18O of 19.4‰±1.5‰ (1σ) and average Δ17O of −1.98±0.9‰ (1σ). These differences are interpreted to indicate that the two populations of calcite formed under different conditions at different times. The carbonates have textural features that suggest an extraterrestrial origin. The data presented here fall within error of a previously measured array for carbonates from CM falls (Benedix et al., 2003). The presence of two generations of carbonate suggests carbonate formation in two discrete events on the parent body of these meteorites. The oxygen isotopic data presented here deviate from prior bulk carbonate measurements undertaken for these meteorites. Most likely, this deviation is because bulk carbonate analyses included vein carbonate which formed during terrestrial weathering.
A joint determination of the reactor antineutrino spectra resulting from the fission of 235U and 239Pu has been carried out by the Daya Bay and PROSPECT Collaborations. This Letter reports the level ...of consistency of 235U spectrum measurements from the two experiments and presents new results from a joint analysis of both data sets. Here, the measurements are found to be consistent. The combined analysis reduces the degeneracy between the dominant 235U and 239Pu isotopes and improves the uncertainty of the 235U spectral shape to about 3%. The 235U and 239Pu antineutrino energy spectra are unfolded from the jointly deconvolved reactor spectra using the Wiener-SVD unfolding method, providing a data-based reference for other reactor antineutrino experiments and other applications. This is the first measurement of the 235U and 239Pu spectra based on the combination of experiments at low- and highly enriched uranium reactors.
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The oxygen (δ
18O, δ
17O) and carbon (δ
13C, FMOD
14C-the fraction of modern
14C) isotopic compositions of carbonate were measured for a set of paired Antarctic CM chondrites (EET 96006, EET 96016, ...EET 96017, and EET 96019). While the oxygen isotopic compositions do not plot on the terrestrial fractionation line and indicate that a component of the carbonate minerals has an extraterrestrial origin, they also do not fall on the array defined for carbonates by CM falls and are thus consistent with the presence of a terrestrial carbonate component. The δ
13C and FMOD
14C measurements of carbonate suggest the presence of at least two carbon sources: carbonate derived from atmospheric CO
2 that is inferred to have been produced as a result of silicate weathering reactions and carbonate derived from another carbon source that is either old or non-atmospheric. The relationships between oxygen and carbon isotope data provide additional constraints on the weathering process, and allow the possibility that rock-dominated weathering of the meteorite caused the oxygen isotopic composition of Antarctic water added to the meteorite to evolve away from the terrestrial mass-fractionation array, leading to formation of low temperature terrestrial alteration products that do not lie on the terrestrial fractionation line.
In this international collaborative study, mutations in the gene for glucocerebrosidase (
GBA
), a deficiency of which causes Gaucher's disease, were much more likely to be detected in patients with ...Parkinson's disease than in controls, confirming that there is a strong association between
GBA
mutations and Parkinson's disease.
Mutations in the gene for glucocerebrosidase (
GBA
), a deficiency of which causes Gaucher's disease, were much more likely to be detected in patients with Parkinson's disease than in controls, confirming that there is a strong association between
GBA
mutations and Parkinson's disease.
Several lines of evidence suggest an association between parkinsonism and mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (
GBA
), which is deficient in patients with Gaucher's disease. In this rare mendelian disorder, lysosomal accumulation of glucocerebroside results in a broad spectrum of disease manifestations including hepatosplenomegaly, anemia, thrombocytopenia, bone disease, and, at times, neurologic involvement.
1
,
2
Multiple independent studies have reported an increased frequency of
GBA
mutations in various cohorts of patients with parkinsonism.
3
–
21
However, several genomewide association studies have not identified this locus, and the degree of association has remained somewhat unclear, as many studies . . .
The PROSPECT reactor antineutrino experiment Ashenfelter, J.; Balantekin, A.B.; Baldenegro, C. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
04/2019, Volume:
922
Journal Article
Peer reviewed
Open access
The Precision Reactor Oscillation and Spectrum Experiment, PROSPECT, is designed to make both a precise measurement of the antineutrino spectrum from a highly-enriched uranium reactor and to probe ...eV-scale sterile neutrinos by searching for neutrino oscillations over meter-long baselines. PROSPECT utilizes a segmented6Li-doped liquid scintillator detector for both efficient detection of reactor antineutrinos through the inverse beta decay reaction and excellent background discrimination. PROSPECT is a movable 4-ton antineutrino detector covering distances of 7m to 13m from the High Flux Isotope Reactor core. It will probe the best-fit point of the ν̄e disappearance experiments at 4σ in 1 year and the favored regions of the sterile neutrino parameter space at more than 3σ in 3 years. PROSPECT will test the origin of spectral deviations observed in recent θ13 experiments, search for sterile neutrinos, and address the hypothesis of sterile neutrinos as an explanation of the reactor anomaly. This paper describes the design, construction, and commissioning of PROSPECT and reports first data characterizing the performance of the PROSPECT antineutrino detector.
Abstract
Background
Previous studies are inconclusive concerning the association between maternal pre-pregnancy overweight/obesity and risk of attention-deficit/hyperactivity disorder (ADHD) in ...offspring. We therefore conducted a systematic review and meta-analysis to clarify this association. To address the variation in confounding adjustment between studies, especially inadequate adjustment of unmeasured familial confounding in most studies, we further performed cousin and sibling comparisons in a nationwide population-based cohort in Sweden.
Methods
We searched PubMed, Embase and PsycINFO during 1975–2018. We used random-effects models to calculate pooled risk ratios (RRs) with 95% confidence interval. In the population-based study, Cox proportional hazard models were used to calculate the unadjusted hazard ratios (HRs) and HRs adjusted for all confounders identified in previous studies. Stratified Cox models were applied to data on full cousins and full siblings to further control for unmeasured familial confounding.
Results
Eight cohorts with a total of 784 804 mother–child pairs were included in the meta-analysis. Maternal overweight RRoverweight = 1.31 (1.25–1.38), I2 = 6.80% and obesity RRobesity = 1.92 (1.84–2.00), I2 = 0.00% were both associated with an increased risk of ADHD in offspring. In the population-based cohort of 971 501 individuals born between 1992 and 2004, unadjusted Cox models revealed similar associations HRoverweight = 1.30 (1.28–1.34), HRobesity = 1.92 (1.87–1.98). These associations gradually attenuated towards the null when adjusted for measured confounders HRoverweight = 1.21 (1.19–1.25), HRobesity = 1.60 (1.55–1.65), unmeasured factors shared by cousins HRoverweight = 1.10 (0.98–1.23), HRobesity = 1.44 (1.22–1.70) and unmeasured factors shared by siblings HRoverweight = 1.01 (0.92–1.11), HRobesity = 1.10 (0.94–1.27).
Conclusion
Pre-pregnancy overweight/obesity is associated with an increased risk of ADHD in offspring. The observed association is largely due to unmeasured familial confounding.
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