| 1. |
- Madsen, N, et al.
(författare)
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Search for trapped antihydrogen in ALPHA
- 2011
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Ingår i: Canadian journal of physics (Print). - 0008-4204 .- 1208-6045. ; 89:1, s. 7-16
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Tidskriftsartikel (refereegranskat)abstract
- Antihydrogen spectroscopy promises precise tests of the symmetry of matter and antimatter, and can possibly offer new insights into the baryon asymmetry of the universe. Antihydrogen is, however, difficult to synthesize and is produced only in small quantities. The ALPHA collaboration is therefore pursuing a path towards trapping cold antihydrogen to permit the use of precision atomic physics tools to carry out comparisons of antihydrogen and hydrogen. ALPHA has addressed these challenges. Control of the plasma sizes has helped to lower the influence of the multipole field used in the neutral atom trap, and thus lowered the temperature of the created atoms. Finally, the first systematic attempt to identify trapped antihydrogen in our system is discussed. This discussion includes special techniques for fast release of the trapped anti-atoms, as well as a silicon vertex detector to identify antiproton annihilations. The silicon detector reduces the background of annihilations, including background from antiprotons that can be mirror trapped in the fields of the neutral atom trap. A description of how to differentiate between these events and those resulting from trapped antihydrogen atoms is also included.
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| 2. |
- Buder, S., et al.
(författare)
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The GALAH survey : An abundance, age, and kinematic inventory of the solar neighbourhood made with TGAS
- 2019
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Ingår i: Astronomy and Astrophysics. - : EDP SCIENCES S A. - 0004-6361 .- 1432-0746. ; 624
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Tidskriftsartikel (refereegranskat)abstract
- The overlap between the spectroscopic Galactic Archaeology with HERMES (GALAH) survey and Gaia provides a high-dimensional chemodynamical space of unprecedented size. We present a first analysis of a subset of this overlap, of 7066 dwarf, turn-off, and subgiant stars. These stars have spectra from the GALAH survey and high parallax precision from the Gaia DR1 Tycho-Gaia Astrometric Solution. We investigate correlations between chemical compositions, ages, and kinematics for this sample. Stellar parameters and elemental abundances are derived from the GALAH spectra with the spectral synthesis code SPECTROSCOPY MADE EASY. We determine kinematics and dynamics, including action angles, from the Gaia astrometry and GALAH radial velocities. Stellar masses and ages are determined with Bayesian isochrone matching, using our derived stellar parameters and absolute magnitudes. We report measurements of Li, C, O, Na, Mg, Al, Si, K, Ca, Sc, Ti, V, Cr, Mn, Co, Ni, Cu, Zn, Y, as well as Ba and we note that we have employed non-LTE calculations for Li, O, Al, and Fe. We show that the use of astrometric and photometric data improves the accuracy of the derived spectroscopic parameters, especially log g. Focusing our investigation on the correlations between stellar age, iron abundance [Fe/H], and mean alpha-enhancement [alpha/Fe] of the magnitude-selected sample, we recover the result that stars of the high-a sequence are typically older than stars in the low-a sequence, the latter spanning iron abundances of -0.7 < [Fe/H] < +0.5. While these two sequences become indistinguishable in [alpha/Fe] vs. [Fe/H] at the metal-rich regime, we find that age can be used to separate stars from the extended high-a and the low-a sequence even in this regime. When dissecting the sample by stellar age, we find that the old stars (>8 Gyr) have lower angular momenta L-z than the Sun, which implies that they are on eccentric orbits and originate from the inner disc. Contrary to some previous smaller scale studies we find a continuous evolution in the high-alpha-sequence up to super-solar [Fe/H] rather than a gap, which has been interpreted as a separate "high-alpha metal-rich" population. Stars in our sample that are younger than 10 Gyr, are mainly found on the low alpha-sequence and show a gradient in L-z from low [Fe/H] > (L-z > L-z,L-circle dot) towards higher [Fe/H] (L-z < L-z,L-circle dot), which implies that the stars at the ends of this sequence are likely not originating from the close solar vicinity.
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| 3. |
- Hayden, M. R., et al.
(författare)
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The Gaia-ESO Survey : Churning through the Milky Way
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP SCIENCES S A. - 0004-6361 .- 1432-0746. ; 609
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Tidskriftsartikel (refereegranskat)abstract
- Context: There have been conflicting results with respect to the extent that radial migration has played in the evolution of the Galaxy. Additionally, observations of the solar neighborhood have shown evidence of a merger in the past history of the Milky Way that drives enhanced radial migration.Aims: We attempt to determine the relative fraction of stars that have undergone significant radial migration by studying the orbital properties of metal-rich ([Fe/H] > 0.1) stars within 2 kpc of the Sun. We also aim to investigate the kinematic properties, such as velocity dispersion and orbital parameters, of stellar populations near the Sun as a function of [Mg/Fe] and [Fe/H], which could show evidence of a major merger in the past history of the Milky Way.Methods: We used a sample of more than 3000 stars selected from the fourth internal data release of the Gaia-ESO Survey. We used the stellar parameters from the Gaia-ESO Survey along with proper motions from PPMXL to determine distances, kinematics, and orbital properties for these stars to analyze the chemodynamic properties of stellar populations near the Sun.Results: Analyzing the kinematics of the most metal-rich stars ([Fe/H] > 0 : 1), we find that more than half have small eccentricities (e < 0 : 2) or are on nearly circular orbits. Slightly more than 20% of the metal-rich stars have perigalacticons R-p > 7 kpc. We find that the highest [Mg/ Fe], metal-poor populations have lower vertical and radial velocity dispersions compared to lower [Mg/Fe] populations of similar metallicity by similar to 10 km s(-1). The median eccentricity increases linearly with [Mg/Fe] across all metallicities, while the perigalacticon decreases with increasing [Mg/Fe] for all metallicities. Finally, the most [Mg/Fe]-rich stars are found to have significant asymmetric drift and rotate more than 40 km s(-1) slower than stars with lower [Mg/Fe] ratios.Conclusions: While our results cannot constrain how far stars have migrated, we propose that migration processes are likely to have played an important role in the evolution of the Milky Way, with metal-rich stars migrating from the inner disk toward to solar neighborhood and past mergers potentially driving enhanced migration of older stellar populations in the disk.
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| 4. |
- Kremer, B, et al.
(författare)
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Influence of lamotrigine on progression of early Huntington disease : a randomized clinical trial.
- 1999
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Ingår i: Neurology. - 0028-3878 .- 1526-632X. ; 53:5, s. 1000-11
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To assess the efficacy of lamotrigine, a novel antiepileptic drug that inhibits glutamate release, to retard disease progression in Huntington disease (HD).BACKGROUND: Excitatory amino acids may cause selective neuronal death in HD, and lamotrigine may inhibit glutamate release in vivo.METHODS: A double-blinded, placebo-controlled study was conducted of 64 patients with motor signs of less than 5 years' duration who were randomly assigned to either placebo or lamotrigine and assessed at 0 (baseline), 12, 24, and 30 months. The primary response variable was total functional capacity (TFC) score. Secondary response variables included the quantified neurological examination and a set of cognitive and motor tests. Repeated fluorodeoxyglucose measurements of regional cerebral metabolism using PET also were included.RESULTS: Fifty-five patients (28 on lamotrigine, 27 on placebo) completed the study. Neither the primary response variable nor any of the secondary response variables differed significantly between the treatment groups. Both the lamotrigine and the placebo group deteriorated significantly on the TFC, in the lamotrigine group by 1.89 and the placebo group by 2.11 points. No effect of CAG size on the rate of deterioration could be detected.CONCLUSIONS: There was no clear evidence that lamotrigine retarded the progression of early Huntington disease over a period of 30 months. However, more patients on lamotrigine reported symptomatic improvement (53.6 versus 14.8%; p = 0.006), and a trend toward decreased chorea was evident in the treated group (p = 0.08). The study also identified various indices of disease progression, including motor tests and PET studies, that were sensitive to deterioration over time.
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| 5. |
- Rosenblatt, A, et al.
(författare)
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Familial influence on age of onset among siblings with Huntington disease.
- 2001
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Ingår i: American Journal of Medical Genetics. - 0148-7299 .- 1096-8628. ; 105:5, s. 399-403
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Tidskriftsartikel (refereegranskat)abstract
- In order to provide data relevant to a search for modifying genes for age of onset in Huntington disease, we examined the relationship between CAG number and age of onset in a total of 370 individuals from 165 siblingships, in two cohorts of siblings with Huntington disease: an American group of 144 individuals from 64 siblingships, and a Canadian population of 255 individuals from 113 siblingships. Using a logarithmic model to regress the age of onset on the number of CAG triplets, we found that CAG number alone accounted for 65%-71% of the variance in age of onset. The siblingship an individual belonged to accounted for 11%-19% of additional variance. This adds to the previous evidence that there are familial modifiers of the age of onset, independent of the CAG number. Such modifiers may consist of additional genes, which could be the target of a linkage study. A linkage study is feasible with the cooperation of a number of major centers and may be made more efficient by concentrating on sibling pairs that are highly discordant for age of onset.
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| 6. |
- Brinkman, R R, et al.
(författare)
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The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.
- 1997
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Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 60:5, s. 1202-10
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Tidskriftsartikel (refereegranskat)abstract
- Prior studies describing the relationship between CAG size and the age at onset of Huntington disease (HD) have focused on affected persons. To further define the relationship between CAG repeat size and age at onset of HD, we now have analyzed a large cohort of affected and asymptomatic at-risk persons with CAG expansion. This cohort numbered 1,049 persons, including 321 at-risk and 728 affected individuals with a CAG size of 29-121 repeats. Kaplan-Meier analysis has provided curves for determining the likelihood of onset at a given age, for each CAG repeat length in the 39-50 range. The curves were significantly different (P < .0005), with relatively narrow 95% confidence intervals (95% CI) (+/-10%). Penetrance of the mutation for HD also was examined. Although complete penetrance of HD was observed for CAG sizes of > or = 42, only a proportion of those with a CAG repeat length of 36-41 showed signs or symptoms of HD within a normal life span. These data provide information concerning the likelihood of being affected, by a specific age, with a particular CAG size, and they may be useful in predictive-testing programs and for the design of clinical trials for persons at increased risk for HD.
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| 7. |
- Chong, S S, et al.
(författare)
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Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease : evidence from single sperm analyses.
- 1997
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 6:2, s. 301-9
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Tidskriftsartikel (refereegranskat)abstract
- New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG mutation frequencies for four IAs in families with sporadic HD (IANM) and IAs ascertained from the general population (IAGP) by analyzing 1161 single sperm from three persons. We show that IANM are more unstable than IAGP with identical size and sequence. Furthermore, comparison of different sized IAs and IAs with different sequences between the CAG and the adjacent CCG tracts indicates that DNA sequence is a major influence on CAG stability. These studies provide estimates of the likelihood of expansion of IANM and IAGP to > or = 36 CAG repeats for these individuals. For an IA with a CAG of 35 in this family with sporadic HD, the likelihood for siblings to inherit a recurrent mutation > or = 36 CAG is approximately 10%. For IAGP of a similar size, the risk of inheriting an expanded allele of > or = 36 CAG through the paternal germline is approximately 6%. These risk estimates are higher than previously reported and provide additional information for counselling in these families. Further studies on persons with IAs will be needed to determine whether these results can be generalized to other families.
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| 8. |
- Creighton, S, et al.
(författare)
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Predictive, pre-natal and diagnostic genetic testing for Huntington's disease : the experience in Canada from 1987 to 2000.
- 2003
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Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 63:6, s. 462-75
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Tidskriftsartikel (refereegranskat)abstract
- Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre-natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre-natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre-natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at-risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at < or = 25% risk sought predictive testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre-natal tests were requested. Of the 15 pre-natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD-like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known prior family history of HD.
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| 9. |
- Xiang, F, et al.
(författare)
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A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
- 1998
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 63:5, s. 1431-8
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Tidskriftsartikel (refereegranskat)abstract
- Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations. The disease is associated with a CAG trinucleotide-repeat expansion in the Huntington gene (IT15) on chromosome 4p16.3. One family with a history of HD was referred to us initially for predictive testing using linkage analysis. However, the chromosome 4p region was completely excluded by polymorphic markers, and later no CAG-repeat expansion in the HD gene was detected. To map the disease trait segregating in this family, whole-genome screening with highly polymorphic dinucleotide-, trinucleotide-, and tetranucleotide-repeat DNA markers was performed. A positive LOD score of 3.01 was obtained for the marker D20S482 on chromosome 20p, by two-point LOD-score analysis with the MLINK program. Haplotype analysis indicated that the gene responsible for the disease is likely located in a 2.7-cM region between the markers D20S193 and D20S895. Candidate genes from the mapping region were screened for mutations.
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| 10. |
- Almqvist, E, et al.
(författare)
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Risk reversals in predictive testing for Huntington disease.
- 1997
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 61:4, s. 945-52
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Tidskriftsartikel (refereegranskat)abstract
- The first predictive testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD. Limits to accuracy included recombination between the DNA markers and the mutation, pedigree structure, and whether DNA samples were available from family members. With direct tests for the HD mutation, we have assessed the accuracy of results obtained by linkage approaches when requested to do so by the test individuals. For six such individuals, there was significant disparity between the tests. Three went from a decreased risk to an increased risk, while in another three the risk was decreased. Knowledge of the potential reasons for these changes in results and impact of these risk reversals on both patients and the counseling team can assist in the development of strategies for the prevention and, where necessary, management of a risk reversal in any predictive testing program.
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