ATP2C1 gene codes for the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 ...expression, have been identified as the cause of the Hailey-Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations. However, a better understanding of the tissue specific expression of the isoforms, their localization along the secretory pathway, their specific binding partners and the role of the C-terminal tail making isoforms different from each other, will be future goals of the research in this field.
Gaia Data Release 1 Carrasco, J M; Evans, D W; Montegriffo, P ...
Astronomy and astrophysics (Berlin),
11/2016, Letnik:
595
Journal Article
Recenzirano
Odprti dostop
Context. Gaia is an ESA cornerstone mission launched on 19 December 2013 aiming to obtain the most complete and precise 3D map of our Galaxy by observing more than one billion sources. This paper is ...part of a series of documents explaining the data processing and its results for Gaia Data Release 1, focussing on the G band photometry. Aims. This paper describes the calibration model of the Gaia photometric passband for Gaia Data Release 1. Methods. The overall principle of splitting the process into internal and external calibrations is outlined. In the internal calibration, a self-consistent photometric system is generated. Then, the external calibration provides the link to the absolute photometric flux scales. Results. The Gaia photometric calibration pipeline explained here was applied to the first data release with good results. Details are given of the various calibration elements including the mathematical formulation of the models used and of the extraction and preparation of the required input parameters (e.g. colour terms). The external calibration in this first release provides the absolute zero point and photometric transformations from the GaiaG passband to other common photometric systems. Conclusions. This paper describes the photometric calibration implemented for the first Gaia data release and the instrumental effects taken into account. For this first release no aperture losses, radiation damage, and other second-order effects have not yet been implemented in the calibration.
ABSTRACT
We present Johnson–Kron–Cousins BVRI photometry of 228 candidate spectrophotometric standard stars for the external (absolute) flux calibration of Gaia data. The data were gathered as part ...of a 10-yr observing campaign with the goal of building the external grid of flux standards for Gaia and we obtained absolute photometry, relative photometry for constancy monitoring, and spectrophotometry. Preliminary releases of the flux tables were used to calibrate the first two Gaia releases. This paper focuses on the imaging frames observed in good sky conditions (about 9100). The photometry will be used to validate the ground-based flux tables of the Gaia spectrophotometric standard stars and to correct the spectra obtained in non-perfectly photometric observing conditions for small zero-point variations. The absolute photometry presented here is tied to the Landolt standard stars system to ≃1 per cent or better, depending on the photometric band. Extensive comparisons with various literature sources show an overall ≃1 per cent agreement, which appears to be the current limit in the accuracy of flux calibrations across various samples and techniques in the literature. The Gaia photometric precision is presently of the order of 0.1 per cent or better, thus various ideas for the improvement of photometric calibration accuracy are discussed.
Lemierre's syndrome is defined as an oropharyngeal infection due to Fusobacterium necrophorum, associated with septic thrombophlebitis of the internal jugular vein. The uncommon pelvic variant of the ...syndrome is a rare condition, poorly described in literature.
We report a case of gynecological Lemierre's syndrome in a 19-year-old woman after a first sexual intercourse, who presented acute respiratory failure, left internal iliac vein thrombosis with pulmonary embolism, in the setting of salpingitis and F. necrophorum bacteriemia.
Gynecological Lemierre's syndrome is a rare and unrecognized condition, which could be lethal. Early recognition of the disorder enables initiation of appropriate antibiotic therapy for 4 to 6 weeks, and discussion of anticoagulant therapy which indications are not yet well defined.
The DMAPS upgrade of the Belle II vertex detector Babeluk, M.; Barbero, M.; Baudot, J. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
07/2024, Letnik:
1064
Journal Article
Recenzirano
The Belle II experiment at KEK in Japan considers an upgrade for the vertex detector system in line with the accelerator upgrade for higher luminosity at long shutdown 2 planned for 2028.
One ...proposal for the upgrade of the vertex detector called VTX aims to improve background robustness and reduce occupancy using small and fast pixels. VTX accommodates the OBELIX depleted monolithic active CMOS pixel sensor (DMAPS) on all five proposed layers. OBELIX is specifically developed for the VTX application and based on the TJ-Monopix2 chip initially developed to meet the requirements of the outer layers of the ATLAS inner tracker (ITk).
This paper will review recent tests of the TJ-Monopix2 chip as well as various design aspects of the OBELIX-1 chip currently under development.
We present the results of the short-term constancy monitoring of candidate Gaia
Spectrophotometric Standard Stars (SPSS). We obtained time series of typically 1.24 h – with sampling periods from ...1–3 min to a few hours, depending on the case – to monitor the constancy of our candidate SPSS down to 10 mmag, as required for the calibration of Gaia photometric data. We monitored 162 out of a total of 212 SPSS candidates. The observing campaign started in 2006 and finished in 2015, using 143 observing nights on nine different instruments covering both hemispheres. Using differential photometry techniques, we built light curves with a typical precision of 4 mmag, depending on the data quality. As a result of our constancy assessment, 150 SPSS candidates were validated against short-term variability, and only 12 were rejected because of variability including some widely used flux standards such as BD+174708, SA 105−448, 1740346, and HD 37725.
Le syndrome de Lemierre est une thrombophlébite septique de la veine jugulaire interne causée par une infection oro-pharyngée à Fusobacterium necrophorum. Il existe une rare variante pelvienne à ce ...syndrome oro-pharyngé, peu décrite dans la littérature.
Nous rapportons l’observation d’une patiente de 19 ans présentant un tableau de détresse respiratoire aiguë fébrile avec douleurs pelviennes dans les suites d’un premier rapport sexuel, faisant découvrir une thrombophlébite de la veine iliaque interne gauche avec emboles septiques pulmonaires, satellite d’une salpingite avec bactériémie à F. necrophorum.
Le syndrome de Lemierre gynécologique est rare et souvent méconnu. En l’absence de traitement adapté, l’issue peut en être fatale. Le traitement repose sur une antibiothérapie pendant 4 à 6 semaines, et la discussion d’une anticoagulation curative dont la place dans l’arsenal thérapeutique est encore incertaine à l’heure actuelle.
Lemierre's syndrome is defined as an oropharyngeal infection due to Fusobacterium necrophorum, associated with septic thrombophlebitis of the internal jugular vein. The uncommon pelvic variant of the syndrome is a rare condition, poorly described in literature.
We report a case of gynecological Lemierre's syndrome in a 19-year-old woman after a first sexual intercourse, who presented acute respiratory failure, left internal iliac vein thrombosis with pulmonary embolism, in the setting of salpingitis and F. necrophorum bacteriemia.
Gynecological Lemierre's syndrome is a rare and unrecognized condition, which could be lethal. Early recognition of the disorder enables initiation of appropriate antibiotic therapy for 4 to 6 weeks, and discussion of anticoagulant therapy which indications are not yet well defined.
Ribosome-binding factor A from the pathogenic bacterium Pseudomonas aeruginosa (PaRbfA) is a small ribosome assembly factor, composed by a single KH domain, involved in the maturation of the 30S ...subunit. These domains are characterized by the ability to bind RNA or ssDNA and are often located in proteins involved in a variety of cellular functions. However, although the ability of proteins to fold properly, to misfold or to aggregate is of paramount importance for their cellular functions, limited information is available on these dynamic properties in the case of KH domains.
PaRbfA thermodynamic stability and folding mechanism: Far-UV CD and fluorescence spectroscopy, stopped-flow kinetics and chevron plot analysis, site-directed mutagenesis. Fibrils characterization: FT-IR spectroscopy, Thioflavin T fluorescence, Transmission Electron Microscopy (TEM) and X-ray fibrils diffraction.
Quantitative analysis of the (un)folding kinetics of PaRbfA show that, in vitro, the protein folds via a 3-states mechanism involving a transiently populated folding intermediate. We also provide experimental evidences that PaRbfA can form ordered fibrils endowed with cross-β structure even in mild conditions.
These results lead to the hypothesis that the folding intermediate of PaRbfA may expose (some of) the predicted amyloidogenic regions, which could act as aggregation nuclei in the fibrillogenesis.
The methodological approach presented herein could be readily adapted to verify the ability of other KH domain proteins to form cross-β structured fibrils and to transiently populate a folding intermediate.
•The biophysical characterization of PaRbfA•A KH domain protein from P. aeruginosa, shows that the protein transiently populates a folding intermediate and can form ordered fibrils•A remarkable feature that could be of general interest for other proteins containing KH-domain(s).
To analyse the efficacy and tolerance of infliximab in refractory Takayasu arteritis (TA).
French multicentre retrospective study that included patients with TA. Clinical disease activity was defined ...as new vascular and/or constitutional signs.
Fifteen patients with TA median age 41 (range 17-61) years; 13 women were included. At initiation of infliximab therapy, 14 patients were treated with CSs prednisone; median dose 20 (range 5-35) mg/day, MTX (n = 7) or AZA (n = 4). Infliximab was used at median 5 (range 3-5) mg/kg at a median of every 6 (range 4-8) weeks. A partial or good overall response was noted in 13 (87%) of the 15 cases, 10 (77%) of the 13 cases and 8 (73%) of the 11 cases at 3, 6 and 12 months, respectively. Clinical and biological activities significantly decreased within 3 months (from 11 at baseline to 4 patients at 12 months; P < 0.05), and similarly for CS dose from median 20 (range 5-35) mg/day at baseline to median 6 (range 2.5-30) mg/day at 12 months; P < 0.05. Only one patient was still steroid-dependent at 12 months (vs 8 cases before infliximab). CRP regressed from a median 30 (range 4-70) mg/l to 5 (range 0-57) mg/l and 6 (0-50) mg/l at 3 and 6 months, respectively (P < 0.05). Side effects were two infusion-related reactions, one pulmonary tuberculosis, one severe bacterial infection and EBV reactivation.
This study confirms the interest of infliximab in terms of clinical and biological response, as well as the steroid-sparing effect in TA.
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