Context. Among optical stellar interferometers, the CHARA Array located at Mt Wilson in California offers the potential of very long baselines (up to 330 m) and the prospect of coupling multiple beam combiners. This paper presents the principle and the measured performance of VEGA, Visible spEctroGraph and polArimeter installed in September 2007 at the coherent focus of the array. Aims. With 0.3 ms of arc of spatial resolution and up to 30 000 of spectral resolution, VEGA intends to measure fundamental parameters of stars, to study stellar activities and to image and analyze circumstellar environments. We describe the observing modes that have been implemented for this spectro-polarimeter and show actual performances measured on the sky during the first observing runs. Methods. The astrophysical programs are described in relation to the observing modes of the instrument, the presentation of the spectrograph and of the interface table is shown and finally the data is presented. We discuss the perspectives of further development in the framework of the CHARA Array. Results. We show that VEGA/CHARA is fully operational. The current limiting magnitude is nearly 7 but the results depend on the observing conditions (seeing, spectral resolution, etc.). We have validated the stability of the instrumental visibility at the level of 1 to 2% over half an hour and of the instrumental polarization for various declinations. Some examples of squared visibility and differential visibility are presented. Conclusions. The spectro-polarimeter VEGA has been installed and successfully tested on CHARA. It will permit stellar physics studies at unprecedented spectral and spatial resolutions.
Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we performed a genomewide search to map the JH locus in nine families: six consanguineous and three with multiple affected patients. This strategy allowed us to identify the JH locus on the long arm of chromosome 1. A maximum LOD score of 5.75 at a recombination fraction of 0 was detected with marker D1S498, and a LOD score of 5. 16 at a recombination fraction of 0 was detected for marker D1S2344. Homozygosity mapping in consanguineous families defined the limits of the candidate region in an approximately 4-cM interval between markers D1S442 and D1S2347. Analysis of genes mapped in this interval excluded obvious candidates. The JH locus does not correspond to the chromosomal localization of any known gene involved in iron metabolism. These findings provide a means to recognize, at an early age, patients in affected families. They also provide a starting point for the identification of the affected gene by positional cloning.
Abstract. The results of the optical monitoring between November 1994 and November 1995 of twenty γ-ray loud blazars included in the Torino blazar monitoring program are presented. All data were taken with the 1.05 m REOSC astrometric telescope of the Torino Astronomical Observatory, equipped with a 1242 × 1152 pixels charge-coupled device (CCD) camera. Observations have been carried out in the standard B, V (Johnson), and R (Cousins) bands. Source magnitudes are calculated with respect to reference stars in the same frame. For half blazar fields it was possible to perform a photometric calibration through the observation of Landolt's fields during photometric nights. In the other cases either photometric sequences from the literature were adopted or, when lacking, magnitudes were simply normalized to their minimum value. Most of the monitored objects show a more or less pronounced brightness variability on both short and long time scales. In a few cases also noticeable intranight variations were detected. Data simultaneous to pointings of the Compton Gamma Ray Observatory (CGRO) are present in our light curves: when the γ data are available they will provide a useful information in order to understand the possible correlations between the optical and γ-ray emissions. For one source (PKS 2254+074) we performed also photopolarimetry, deducing magnitudes, amount of polarization, and position angle in the UBV RI bands.
Summary. Hereditary hyperferritinaemia±cataract syndrome (HHCS) is an autosomal dominant disease caused by mutations in the iron responsive element (IRE) of the lferritin gene. Despite the elucidation of the genetic basis, the overall clinical spectrum of HHCS has been less well studied as, to date, only individual case reports have been described. Therefore, we studied a total of 62 patients in 14 unrelated families, with nine different mutations. No relevant symptoms other than visual impairment were found to be associated with the syndrome. A marked phenotypic variability was observed, particularly with regard to ocular involvement (i.e. age range at which cataract was diagnosed in 16 subjects with the C39T: 6±40 years). Similarly, serum ferritin levels varied substantially also within subjects sharing the same mutation (i.e. range for the A40G: 700± 2412 mg/l). We followed an HHCS newborn in whom welldefined lens opacities were not detectable either at birth or at 1 year. The lens ferritin content was analysed in two subjects who underwent cataract surgery at different ages, with different cataract morphology. Values were similar and about 1500-fold higher than in controls. These observations suggest that: (i) in HHCS the cataract is not necessarily congenital; (ii) in addition to the IRE genotype, other genetic or environmental factors may modulate the phenotype, especially the severity of the cataract.
We evaluated serum homocysteine concentrations and the C677T polymorphism of the gene encoding for methylene tetrahydrofolate reductase, a key enzyme for homocysteine metabolism, in 57 patients with Cushing's syndrome, 41 with active disease, and 16 in remission after successful surgery and 105 blood donors. The patients with active Cushing's syndrome had significantly higher serum homocysteine levels and lower folate concentrations than either the patients in remission or controls. The presence of a statistically significant difference in homocysteine concentrations among the three groups was confirmed after adjustment for confounding variables. In a multiple regression model, homocysteine levels were significantly associated with midnight serum cortisol levels (beta = 0.33, P = 0.01), which is the most sensitive marker of endogenous hypercortisolism, and serum folate levels (beta = -0.32, P = 0.02). The distribution of methylene tetrahydrofolate reductase genotypes was not different between patients and controls. In conclusion, active hypercortisolism is associated with hyperhomocysteinemia and reduced serum folate concentrations, whereas the patients in remission have homocysteine concentrations comparable with healthy subjects. Low serum folate concentrations do not fully account for the increase in homocysteine levels that are positively correlated with cortisol levels. Hyperhomocysteinemia may be key to the prothrombotic state and increased cardiovascular risk of Cushing's syndrome.
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