SPI observations of positron annihilation radiation from the 4th galactic quadrant: sky distribution

During its first year in orbit the INTEGRAL observatory performed deep exposures of the Galactic Center region and scanning observations of the Galactic plane. We report on the status of our analysis of the positron annihilation radiation from the 4th Galactic quadrant with the spectrometer SPI, focusing on the sky distribution of the 511 keV line emission. The analysis methods are described; current constraints and limits on the Galactic bulge emission and the bulge-to-disk ratio are presented.Comment: 4 pages, 2 figures, accepted for publication in the proceedings of the 5th INTEGRAL worksho

INTEGRAL/IBIS search for e-e+ annihilation radiation from the Galactic Center Region

Electron-positron annihilation radiation from the Galactic Center region has been detected since the seventies, but its astrophysical origin is still a topic of a scientific debate. We have analyzed data of the gamma-ray imager IBIS/ISGRI onboard of ESA's INTEGRAL platform in the e$^{-}$e$^{+}$ line. During the first year of the missions Galactic Center Deep Exposure no evidence for point sources at 511 keV has been found in the ISGRI data; the $2 \sigma$ upper limit for resolved single point sources is estimated to be $1.6\times 10^{-4} ph cm^{-2} s^{-1}$.Comment: 6 pages, 3 figures; Cospar 2004. To be published in: Advances in Space Researc

INTEGRAL/SPI Limits on Electron-Positron Annihilation Radiation from the Galactic Plane

The center of our Galaxy is a known strong source of electron-positron 511-keV annihilation radiation. Thus far, however, there have been no reliable detections of annihilation radiation outside of the central radian of our Galaxy. One of the primary objectives of the INTEGRAL (INTErnational Gamma-RAy Astrophysics Laboratory) mission, launched in Oct. 2002, is the detailed study of this radiation. The Spectrometer on INTEGRAL (SPI) is a high resolution coded-aperture gamma-ray telescope with an unprecedented combination of sensitivity, angular resolution and energy resolution. We report results from the first 10 months of observation. During this period a significant fraction of the observing time was spent in or near the Galactic Plane. No positive annihilation flux was detected outside of the central region (|l| > 40 deg) of our Galaxy. In this paper we describe the observations and data analysis methods and give limits on the 511-keV flux.Comment: Accepted for publication in the Astrophysical Journal. 13 pages, 3 figure

INTEGRAL/SPI Limits on Electron-Positron Annihilation Radiation from the Galactic Plane

The center of our Galaxy is a known strong source of electron-positron 511 keV annihilation radiation. Thus far, however, there have been no reliable detection of annihilation radiation outside of the central radian of our Galaxy. One of the primary objectives of the INTEGRAL (International Gamma-Ray Astrophysics Laboratory mission, resolution, coded-apeture gamma-ray telescope with an unprecedented combination of sensitivity, angular resolution, and energy resolution. We resport results from the first 10 months of observation. During this period a significant fraction of the observing time was spent in or near the Galactic plan. No positive annihilation flux was detected outside of the central regin ( l \u3e 40°) of our Galaxy. In this paper we describe observation and data analysis method and give limits on the 511 keV flu

WDR34, a candidate gene for non-syndromic rod-cone dystrophy

Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% to 70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non-syndromic RCD

Spectral analysis of the Galactic e+e- annihilation emission

We present a spectral analysis of the e+e- annihilation emission from the Galactic Centre region based on the first year of measurements made with the spectrometer SPI of the INTEGRAL mission. We have found that the annihilation spectrum can be modelled by the sum of a narrow and a broad 511 keV line plus an ortho-Ps continuum. The broad line is detected with a flux of (0.35+/-0.11)e-3 s-1 cm-2. The measured width of 5.4+/-1.2 keV FWHM is in agreement with the expected broadening of 511 keV photons emitted in the annihilation of Ps that are formed by the charge exchange process of slowing down positrons with H atoms. The flux of the narrow line is (0.72+/-0.12)e-3 s-1 cm-2 and its width is 1.3+/-0.4 keV FWHM. The measured ortho-Ps continuum flux yields a fraction of Ps of (96.7+/-2.2)%. To derive in what phase of the interstellar medium positrons annihilate, we have fitted annihilation models calculated for each phase to the data. We have found that 49(+2,-23)% of the annihilation emission comes from the warm neutral phase and 51(+3,-2)% from the warm ionized phase. While we may not exclude that less than 23% of the emission might come from cold gas, we have constrained the fraction of annihilation emission from molecular clouds and hot gas to be less than 8% and 0.5%, respectively. We have compared our knowledge of the interstellar medium in the bulge and the propagation of positrons with our results and found that they are in good agreement if the sources are diffusively distributed and if the initial kinetic energy of positrons is lower than a few MeV. Despite its large filling factor, the lack of annihilation emission from the hot gas is due to its low density, which allows positrons to escape this phase.Comment: 12 pages, 6 figures, accepted in A&

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.

An association between carbamazepine-induced hypersensitivity and HLA-A*3101 has been reported in populations of both European and Asian descent. We aimed to investigate HLA-A*3101 and other common variants across the genome as markers for cutaneous adverse drug reactions (cADRs) attributed to lamotrigine and phenytoin

Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma

BACKGROUND: Matrix metalloproteinases (MMP) have been shown to play a role in colorectal cancer (CRC). More recently, MMP1, MMP3 and MMP7 functional gene promoter polymorphisms have been found to be associated with CRC occurrence and prognosis. To document the role of MMP polymorphisms in the early step of colorectal carcinogenesis, we investigated their association with colorectal adenoma risk in a case-control study comprising 295 patients with large adenomas (LA), 302 patients with small adenomas (SA) and 568 polyp-free (PF) controls. METHODS: Patients were genotyped using automated fragment analysis for MMP1 -1607 ins/del G and MMP3 -1612 ins/delA (MMP3.1) polymorphisms and allelic discrimination assay for MMP3 -709 A/G (MMP3.2) and MMP7 -181 A/G polymorphisms. Association between MMP genotypes and colorectal adenomas was first tested for each polymorphism separately and then for combined genotypes using the combination test. Adjustment on relevant variables and estimation of odds ratios were performed using unconditional logistic regression. RESULTS: No association was observed between the polymorphisms and LA when compared to PF or SA. When comparing SA to PF controls, analysis revealed a significant association between MMP3 -1612 ins/delA polymorphism and SA with an increased risk associated with the 6A/6A genotype (OR = 1.67, 95%CI: 1.20–2.34). Using the combination test, the best association was found for MMP3.1-MMP1 (p = 0.001) with an OR of 1.88 (95%CI: 1.08–3.28) for the combined genotype 2G/2G-6A/6A estimated by logistic regression. CONCLUSION: These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis