2,133 research outputs found
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family
Summary: Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on the other allele (M/c). The resulting enzyme activity in patients is ∼35% of that in normal individuals. Ferrochelatase deficiency results in the accumulation of protoporphyrin in the skin, which is responsible for the clinical symptom of cutaneous photosensitivity in patients. In this study, we report the identification of a novel FECH mutation delT23 in an 11-member EPP family of Jewish origin. Two EPP siblings shared an identical genotype of delT23/IVS3-48c (M/c). They were both photosensitive and showed highly increased erythrocyte protoporphyrin. The genotype of the patients' mother, who did not present with any EPP clinical symptoms, was delT23/IVS3-48t (M/t). The patients' father, an offspring of consanguineous parents, was homozygous IVS3-48 c/c. He exhibited a mild photosensitivity, and an increase of 4-fold in erythrocyte protoporphyrin. His FECH mRNA amount was 71% of that of genotype t/t. It is the first reported case of an individual with c/c genotype who exhibits both biochemical and clinical indications of EPP. These results suggest that IVS3-48c is a functional variant of ferrochelatase. The clinical symptoms and biochemical abnormalities in the patients' father could be the result of an interaction between genetic and environmental factors. In addition, the frequency of IVS3-48c in the Ashkenazi Jewish population was estimated at 8%, which is similar to that in the European population
Precipitate stability and recrystallisation in the weld nuggets of friction stir welded Al-Mg-Si and Al-Mg-Sc alloys
Two different precipitate hardening aluminium alloys processed by friction
stir welding were investigated. The microstructure and the hardness of the as
delivered materials were compared to that of the weld nugget. Transmission
electron microscopy observations combined with three-dimensional atom probe
analyses clearly show that \beta;" precipitates dissolved in the nugget of the
Al-Mg-Si giving rise to some supersaturated solid solution. It is shown that
the dramatic softening of the weld could be partly recovered by post-welding
ageing treatments. In the Al-Mg-Sc alloy, Al3Sc precipitate size and density
are unchanged in the nugget comparing to the base metal. These precipitates
strongly reduce the boundary mobility of recrystallised grains, leading to a
grain size in the nugget much smaller than in the Al-Mg-Si alloy. Both coherent
and incoherent precipitates were detected. This feature may indicate that a
combination of continuous and discontinuous recrystallisation occurred in the
weld nugget
Ground-state correlation properties of charged bosons trapped in strongly anisotropic harmonic potentials
We study systems of a few charged bosons contained within a strongly
anisotropic harmonic trap. A detailed examination of the ground-state
correlation properties of two-, three-, and four-particle systems is carried
out within the framework of the single-mode approximation of the transverse
components. The linear correlation entropy of the quasi-1D systems is discussed
in dependence on the confinement anisotropy and compared with a strictly 1D
limit. Only at weak interaction the correlation properties depend strongly on
the anisotropy parameter.Comment: 5 pages, 6 figure
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The roles of static stability and tropical – extratropical interactions in the summer interannual variability of the North Atlantic sector
Summer seasonal forecast skill in the North Atlantic sector is lower than winter skill. To identify potential controls on predictability, the sensitivity of North Atlantic baroclinicity to atmospheric drivers is quantified. Using ERA-INTERIM reanalysis data, North Atlantic storm-track baroclinicity is shown to be less sensitive to meridional temperature-gradient variability in summer. Static stability shapes the sector’s interannual variability by modulating the sensitivity of baroclinicity to variations in meridional temperature gradients and tropopause height and by modifying the baroclinicity itself. High static stability anomalies at upper levels result in more zonal extratropical cyclone tracks and higher eddy kinetic energy over the British Isles in the summertime. These static stability anomalies are not strongly related to the summer NAO; but they are correlated with the suppression of convection over the tropical Atlantic and with a poleward-shifted subtropical jet. These results suggest a non-local driver of North Atlantic variability. Furthermore, they imply that improved representations of convection over the south-eastern part of North America and the tropical Atlantic might improve summer seasonal forecast skill
Routine pattern discovery and anomaly detection in individual travel behavior
Discovering patterns and detecting anomalies in individual travel behavior is
a crucial problem in both research and practice. In this paper, we address this
problem by building a probabilistic framework to model individual
spatiotemporal travel behavior data (e.g., trip records and trajectory data).
We develop a two-dimensional latent Dirichlet allocation (LDA) model to
characterize the generative mechanism of spatiotemporal trip records of each
traveler. This model introduces two separate factor matrices for the spatial
dimension and the temporal dimension, respectively, and use a two-dimensional
core structure at the individual level to effectively model the joint
interactions and complex dependencies. This model can efficiently summarize
travel behavior patterns on both spatial and temporal dimensions from very
sparse trip sequences in an unsupervised way. In this way, complex travel
behavior can be modeled as a mixture of representative and interpretable
spatiotemporal patterns. By applying the trained model on future/unseen
spatiotemporal records of a traveler, we can detect her behavior anomalies by
scoring those observations using perplexity. We demonstrate the effectiveness
of the proposed modeling framework on a real-world license plate recognition
(LPR) data set. The results confirm the advantage of statistical learning
methods in modeling sparse individual travel behavior data. This type of
pattern discovery and anomaly detection applications can provide useful
insights for traffic monitoring, law enforcement, and individual travel
behavior profiling
Effect of resveratrol on alcohol-induced mortality and liver lesions in mice
BACKGROUND: Resveratrol is a polyphenol with important antiinflammatory and antioxidant properties. We investigated the effect of resveratrol on alcohol-induced mortality and liver lesions in mice. METHODS: Mice were randomly distributed into four groups (control, resveratrol-treated control, alcohol and resveratrol-treated alcohol). Chronic alcohol intoxication was induced by progressively administering alcohol in drinking water up to 40% v/v. The mice administered resveratrol received 10 mg/ml in drinking water. The animals had free access to standard diet. Blood levels were determined for transaminases, IL-1 and TNF-α. A histological evaluation was made of liver damage, and survival among the animals was recorded. RESULTS: Transaminase concentration was significantly higher in the alcohol group than in the rest of the groups (p < 0.05). IL-1 levels were significantly reduced in the alcohol plus resveratrol group compared with the alcohol group (p < 0.05). TNF-α was not detected in any group. Histologically, the liver lesions were more severe in the alcohol group, though no significant differences between groups were observed. Mortality in the alcohol group was 78% in the seventh week, versus 22% in the alcohol plus resveratrol group (p < 0.001). All mice in the alcohol group died before the ninth week. CONCLUSION: The results obtained suggest that resveratrol reduces mortality and liver damage in mice
Observation of an Excited Bc+ State
Using pp collision data corresponding to an integrated luminosity of 8.5 fb-1 recorded by the LHCb experiment at center-of-mass energies of s=7, 8, and 13 TeV, the observation of an excited Bc+ state in the Bc+π+π- invariant-mass spectrum is reported. The observed peak has a mass of 6841.2±0.6(stat)±0.1(syst)±0.8(Bc+) MeV/c2, where the last uncertainty is due to the limited knowledge of the Bc+ mass. It is consistent with expectations of the Bc∗(2S31)+ state reconstructed without the low-energy photon from the Bc∗(1S31)+→Bc+γ decay following Bc∗(2S31)+→Bc∗(1S31)+π+π-. A second state is seen with a global (local) statistical significance of 2.2σ (3.2σ) and a mass of 6872.1±1.3(stat)±0.1(syst)±0.8(Bc+) MeV/c2, and is consistent with the Bc(2S10)+ state. These mass measurements are the most precise to date
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