6,722 research outputs found
Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia
No abstract availabl
Genetic issues in the diagnosis of dystonias
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive. Primary Torsion Dystonias (PTDs), in which dystonia is the only clinical sign, can be inherited in a monogenic fashion, and many genes and loci have been identified for autosomal dominant (DYT1/TOR1A; DYT6/THAP1; DYT4/TUBB4a; DYT7; DYT13; DYT21; DYT23/CIZ1; DYT24/ANO3; DYT25/GNAL) and recessive (DYT2; DYT17) forms. However most sporadic cases, especially those with late-onset, are likely multifactorial, with genetic and environmental factors interplaying to reach a threshold of disease. At present, genetic counseling of dystonia patients remains a difficult task. Recently non-motor clinical findings in dystonias, new highlights in the pathophysiology of the disease, and the availability of high-throughput genome-wide techniques are proving useful tools to better understand the complexity of PTD genetics. We briefly review the genetic basis of the most common forms of hereditary PTDs, and discuss relevant issues related to molecular diagnosis and genetic counseling
Relevant results from the NA48 experiment
We report relevant results from NA48 experiment at CERN SPS. NA48 was
proposed in 1990 \cite{proposal} to study direct CP violation in
to a level of accuracy sufficient to resolve the inconclusive status left by
the previous measurements performed by NA31 \cite{NA31} and E731 \cite{E731}.
In 2002 NA48 published the final result \cite{NA48epsoeps}. Small modification
to the experimental setup have allowed NA48 to go forward with an extensive
investigation of rare decays and hyperon decays. Some results are already
available and reported here together with the final CP violation measurement.Comment: 3 pages, 1 eps figure, XXIII Physics in collisio
KIC 9821622: An interesting lithium-rich giant in the Kepler field
We report the discovery of a new exceptional young lithium-rich giant, KIC
9821622, in the \textit{Kepler} field that exhibits an unusually large
enhancement of , Fe-peak, and \textit{r}-process elements. From
high-resolution spectra obtained with GRACES at Gemini North, we derived
fundamental parameters and detailed chemical abundances of 23 elements from
equivalent widths and synthesis analysis. By combining atmospheric stellar
parameters with available asteroseismic data, we obtained the stellar mass,
radius, and age. The data analysis reveals that KIC 9821622 is a Li-rich
(A(Li) = 1.80 0.2) intermediate-mass giant star ( = 1.64
) located at the red giant branch near the luminosity bump. We find
unexpectedly elevated abundances of Fe-peak and \textit{r}-process elements. In
addition, as previously reported, we find that this is a young star (2.37 Gyr)
with unusually high abundances of -elements ([/Fe] = 0.31). The
evolutionary status of KIC 9821622 suggests that its Li-rich nature is the
result of internal fresh Li that is synthesized through the Cameron-Fowler
mechanism near the luminosity bump. However, its peculiar enhancement of
, Fe-peak, and \textit{r}-process elements opens the possibility of
external contamination by material enriched by a supernova explosion. Although
it is less likely, planet accretion cannot be ruled out.Comment: Letter, 6 pages, 3 figures, Accepted for publication in A&A. - Some
language editing include
Signatures of rocky planet engulfment in HAT-P-4. Implications for chemical tagging studies
Aims. To explore the possible chemical signature of planet formation in the
binary system HAT-P-4, by studying abundance vs condensation temperature Tc
trends. The star HAT-P-4 hosts a planet detected by transits while its stellar
companion does not have any detected planet. We also study the Lithium content,
which could shed light on the problem of Li depletion in exoplanet host stars.
Conclusions. The exoplanet host star HAT-P-4 is found to be ~0.1 dex more metal
rich than its companion, which is one of the highest differences in metallicity
observed in similar systems. This could have important implications for
chemical tagging studies, disentangling groups of stars with a common origin.
We rule out a possible peculiar composition for each star as lambda Boo, delta
Scuti or a Blue Straggler. The star HAT-P-4 is enhanced in refractory elements
relative to volatile when compared to its stellar companion. Notably, the
Lithium abundance in HAT-P-4 is greater than in its companion by ~0.3 dex,
which is contrary to the model that explains the Lithium depletion by the
presence of planets. We propose a scenario where, at the time of planet
formation, the star HAT-P-4 locked the inner refractory material in
planetesimals and rocky planets, and formed the outer gas giant planet at a
greater distance. The refractories were then accreted onto the star, possibly
due to the migration of the giant planet. This explains the higher metallicity,
the higher Lithium content, and the negative Tc trend detected. A similar
scenario was recently proposed for the solar twin star HIP 68468, which is in
some aspects similar to HAT-P-4. We estimate a mass of at least Mrock ~ 10
Mearth locked in refractory material in order to reproduce the observed Tc
trends and metallicity.Comment: 5 pages, 6 figures, A&A Letters accepte
The effects of a comptonizing corona on the appearance of the reflection components in accreting black hole spectra
We discuss the effects of a comptonizing corona on the appearance of the
reflection components, and in particular of the reflection hump, in the X-rays
spectra of accreting black holes. Indeed, in the framework of a thermal corona
model, we expect that part (or even all, depending on the coronal covering
factor) of the reflection features should cross the hot plasma, and thus suffer
Compton scattering, before being observed. We have studied in detail the
dependence of these effects on the physical (i.e. temperature and optical
depth) and geometrical (i.e. inclination angle) parameters of the corona,
concentrating on the slab geometry . Due to the smoothing and shifting towards
high energies of the comptonized reflection hump, the main effects on the
emerging spectra appear above 100 keV. We have also investigated the importance
of such effects on the interpretation of the results obtained with the standard
fitting procedures. We found that fitting Comptonization models, taking into
account comptonized reflection, by the usual cut-off power law + uncomptonized
reflection model, may lead to an underestimation of the reflection
normalization and an overestimation of the high energy cut-off. We discuss and
illustrate the importance of these effects by analysing recent observational
results as those of the galaxy NGC 4258. We also find that the comptonizing
corona can produce and/or emphasize correlations between the reflection
features characteristics (like the iron line equivalent width or the covering
fraction) and the X-ray spectral index similar to those recently reported in
the literature. We also underline the importance of these effects when dealing
with accurate spectral fitting of the X-ray background.Comment: 11 pages, 14 figures accepted for publication in MNRAS. Version
printable on US 8.5x11 pape
FROM 2D TO 3D SUPERVISED SEGMENTATION AND CLASSIFICATION FOR CULTURAL HERITAGE APPLICATIONS
The digital management of architectural heritage information is still a complex problem, as a heritage object requires an integrated representation of various types of information in order to develop appropriate restoration or conservation strategies. Currently, there is extensive research focused on automatic procedures of segmentation and classification of 3D point clouds or meshes, which can accelerate the study of a monument and integrate it with heterogeneous information and attributes, useful to characterize and describe the surveyed object. The aim of this study is to propose an optimal, repeatable and reliable procedure to manage various types of 3D surveying data and associate them with heterogeneous information and attributes to characterize and describe the surveyed object. In particular, this paper presents an approach for classifying 3D heritage models, starting from the segmentation of their textures based on supervised machine learning methods. Experimental results run on three different case studies demonstrate that the proposed approach is effective and with many further potentials
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