STEllar Content and Kinematics from high resolution galactic spectra via Maximum A Posteriori

We introduce STECKMAP (STEllar Content and Kinematics via Maximum A Posteriori), a method to recover the kinematical properties of a galaxy simultaneously with its stellar content from integrated light spectra. It is an extension of STECMAP (astro-ph/0505209) to the general case where the velocity distribution of the underlying stars is also unknown. %and can be used as is for the analysis of large sets of data. The reconstructions of the stellar age distribution, the age-metallicity relation, and the Line-Of-Sight Velocity Distribution (LOSVD) are all non-parametric, i.e. no specific shape is assumed. The only a propri we use are positivity and the requirement that the solution is smooth enough. The smoothness parameter can be set by GCV according to the level of noise in the data in order to avoid overinterpretation. We use single stellar populations (SSP) from PEGASE-HR (R=10000, lambda lambda = 4000-6800 Angstrom, Le Borgne et al. 2004) to test the method through realistic simulations. Non-Gaussianities in LOSVDs are reliably recovered with SNR as low as 20 per 0.2 Angstrom pixel. It turns out that the recovery of the stellar content is not degraded by the simultaneous recovery of the kinematic distribution, so that the resolution in age and error estimates given in Ocvirk et al. 2005 remain appropriate when used with STECKMAP. We also explore the case of age-dependent kinematics (i.e. when each stellar component has its own LOSVD). We separate the bulge and disk components of an idealized simplified spiral galaxy in integrated light from high quality pseudo data (SNR=100 per pixel, R=10000), and constrain the kinematics (mean projected velocity, projected velocity dispersion) and age of both components.Comment: 12 pages, 6 figures, accepted for publication in MNRA

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Additional features not typically associated with common variable immunodeficiency were diagnosed only later, including skeletal and organ anomalies and mild facial dysmorphism. Whole exome sequencing revealed KMT2-Aassociated Wiedemann-Steiner syndrome in one sibling pair and their mother. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis. With this study, we underline the importance of an early-stage and thorough genetic assessment in paediatric patients with a common variable immunodeficiency phenotype, to establish a conclusive diagnosis and guide patient management. In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research

Ability of FFR-CT to detect the absence of hemodynamically significant lesions in patients with high-risk NSTE-ACS admitted in the emergency department with chest pain, study design and rationale.

In the era of High-sensitive troponin (hs-Tn), up to 50% of patients with a mild increase of hs-Tn will finally have a normal invasive coronary angiogram. Fractional Flow Reserve (FFR) derived from coronary computed tomographic angiography (FFR-CT) has never been used as a non-invasive tool for the diagnosis of coronary artery disease in patients with high-risk acute coronary syndrome without ST segment elevation (NSTE-ACS). The study aims to determine the role of coronary CT angiography and FFR-CT in the setting of high-risk NSTE-ACS. We will conduct a prospective trial, enrolling 250 patients admitted with high-risk NSTE-ACS who will rapidly undergo a coronary CT angiography and then a coronary angiography with FFR measurements. Results of coronary CT, FFR-CT and coronary angiography (± FFR) will be compared. In conclusion, non-invasive identification of patients with high-risk NSTE-ACS who could avoid coronary angiography would reduce procedure related risks and medical costs

FLH Type 5 Caused by a Novel Mutation in STXBP2 Gene: An Unusual Cause of Failure to Thrive and Diarrhea in Infancy

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Intracoronary EnalaPrilat to Reduce MICROvascular Damage During Percutaneous Coronary Intervention (ProMicro) study.

Intracoronary angiotensin-converting enzyme inhibitors have been shown to relieve myocardial ischemia in stable patients and to improve epicardial flow in patients with ST-segment elevation myocardial infarction. Yet, it is still unclear whether these effects are mediated by a modulation of the coronary microcirculation. Methods We randomly assigned 40 patients to receive either an intracoronary bolus of enalaprilat (50 g) or placebo before elective PCI. The index of microvascular resistance was measured at baseline, 10 minutes after study drug administration, and after PCI. High-sensitivity cardiac troponin T was measured as a marker of myocardial injury. Results Infusion of enalaprilat resulted in a significant reduction in index of microvascular resistance (27 11 at baseline vs. 19 9 after drug vs. 15 8 after PCI), whereas a significant post-procedural increase in index of microvascular resistance levels was observed in the placebo group (24 15 at baseline vs. 24 15 after drug vs. 33 19 after PCI). Index of microvascular resistance levels after PCI were significantly lower in the enalaprilat group (p 0.001). Patients pre-treated with enalaprilat also showed lower peak values (mean: 21.7 ng/ml, range: 8.2 to 34.8 ng/ml vs. mean: 32.3 ng/ml, range: 12.6 to 65.2 ng/ml, p 0.048) and peri-procedural increases of high-sensitivity cardiac troponin T (mean: 9.9 ng/ml, range: 2.7 to 19.0 ng/ml vs. mean: 26.6 ng/ml, range: 6.3 to 60.5 ng/ml, p 0.025). Conclusions Intracoronary enalaprilat improves coronary microvascular function and protects myocardium from procedurerelated injury in patients with coronary artery disease undergoing PCI. Larger studies are warranted to investigate whether these effects of enalaprilat could result into a significant clinical benefit. (J Am Coll Cardiol 2013;61:615–21) © 2013 by the American College of Cardiology Foundatio

Duration of Hyperemia With Intracoronary Administration of Papaverine.

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