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

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.Doctoral funding from the Ministère de l'Enseignement Supérieur et de la Recherche; Europe exchange 2018 Erasmus; European Reintegration Grant, Grant/Award Number: PERG04-GA-2008-231125; Fondation de France-Berthe Fouassier; Foundation Fighting Blindness, Grant/Award Number: Grant # CD-CL-0808-0466-CHNO CIC503 recogn; Foundation Voir et Entendre; French Agence Nationale de la Recherche, Grant/Award Numbers: IHU FOReSIGHT: ANR-18-IAHU-0001, LIFESENSES: ANR-10-LABX-65; National Eye Institute [R01EY012910 (EAP), R01EY026904 (KMB/EAP) and P30EY014104 (MEEI core support)], the Foundation Fightin

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&

Toxic epidermal necrolysis and Stevens-Johnson syndrome

Toxic epidermal necrolysis (TEN) and Stevens Johnson Syndrome (SJS) are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. Both are rare, with TEN and SJS affecting approximately 1or 2/1,000,000 annually, and are considered medical emergencies as they are potentially fatal. They are characterized by mucocutaneous tenderness and typically hemorrhagic erosions, erythema and more or less severe epidermal detachment presenting as blisters and areas of denuded skin. Currently, TEN and SJS are considered to be two ends of a spectrum of severe epidermolytic adverse cutaneous drug reactions, differing only by their extent of skin detachment. Drugs are assumed or identified as the main cause of SJS/TEN in most cases, but Mycoplasma pneumoniae and Herpes simplex virus infections are well documented causes alongside rare cases in which the aetiology remains unknown. Several drugs are at "high" risk of inducing TEN/SJS including: Allopurinol, Trimethoprim-sulfamethoxazole and other sulfonamide-antibiotics, aminopenicillins, cephalosporins, quinolones, carbamazepine, phenytoin, phenobarbital and NSAID's of the oxicam-type. Genetic susceptibility to SJS and TEN is likely as exemplified by the strong association observed in Han Chinese between a genetic marker, the human leukocyte antigen HLA-B*1502, and SJS induced by carbamazepine. Diagnosis relies mainly on clinical signs together with the histological analysis of a skin biopsy showing typical full-thickness epidermal necrolysis due to extensive keratinocyte apoptosis. Differential diagnosis includes linear IgA dermatosis and paraneoplastic pemphigus, pemphigus vulgaris and bullous pemphigoid, acute generalized exanthematous pustulosis (AGEP), disseminated fixed bullous drug eruption and staphyloccocal scalded skin syndrome (SSSS). Due to the high risk of mortality, management of patients with SJS/TEN requires rapid diagnosis, evaluation of the prognosis using SCORTEN, identification and interruption of the culprit drug, specialized supportive care ideally in an intensive care unit, and consideration of immunomodulating agents such as high-dose intravenous immunoglobulin therapy. SJS and TEN are severe and life-threatening. The average reported mortality rate of SJS is 1-5%, and of TEN is 25-35%; it can be even higher in elderly patients and those with a large surface area of epidermal detachment. More than 50% of patients surviving TEN suffer from long-term sequelae of the disease

Relationships of dietary patterns with body composition in older adults differ by gender and PPAR-γ Pro12Ala genotype

Dietary patterns may better capture the multifaceted effects of diet on body composition than individual nutrients or foods. The objective of this study was to investigate the dietary patterns of a cohort of older adults, and examine relationships of dietary patterns with body composition. The influence of a polymorphism in the peroxisome proliferator-activated receptor-γ (PPAR-γ) gene was considered. The Health, Aging and Body Composition (Health ABC) Study is a prospective cohort study of 3,075 older adults. Participants’ body composition and genetic variation were measured in detail. Food intake was assessed with a semi-quantitative food frequency questionnaire (Block Dietary Data Systems, Berkeley, CA), and dietary patterns of 1,809 participants with complete data were derived by cluster analysis. Six clusters were identified, including a ‘Healthy foods’ cluster characterized by higher intake of low-fat dairy products, fruit, whole grains, poultry, fish and vegetables. An interaction was found between dietary patterns and PPAR-γ Pro12Ala genotype in relation to body composition. While Pro/Pro homozygous men and women in the ‘Healthy foods’ cluster did not differ significantly in body composition from those in other clusters, men with the Ala allele in the ‘Healthy foods’ cluster had significantly lower levels of adiposity than those in other clusters. Women with the Ala allele in the ‘Healthy foods’ cluster differed only in right thigh intermuscular fat from those in other clusters. Relationships between diet and body composition in older adults may differ by gender and by genetic factors such as PPAR-γ Pro12Ala genotype

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