411 research outputs found

    A realist interpretation of quantum mechanics based on undecidability due to gravity

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    We summarize several recent developments suggesting that solving the problem of time in quantum gravity leads to a solution of the measurement problem in quantum mechanics. This approach has been informally called "the Montevideo interpretation". In particular we discuss why definitions in this approach are not "for all practical purposes" (fapp) and how the problem of outcomes is resolved.Comment: 7 pages, IOPAMS style, no figures, contributed to the proceedings of DICE 2010, Castiglioncello, slightly improved versio

    The relationship between truncation and phosphorylation at the C-terminus of tau protein in the paired helical filaments of Alzheimer's disease

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    Acknowledgements: Authors want to express their gratitude to Dr. P. Davies (Albert Einstein College of Medicine, Bronx, NY, USA) and Lester I. Binder (NorthWestern, Chicago, IL, USA) for the generous gift of mAbs (TG-3, Alz-50, and MC1), and (TauC-3), respectively, and to M. en C. Ivan J. Galván-Mendoza for his support in confocal microscopy, and Ms. Maricarmen De Lorenz for her secretarial assistance. We also want to express our gratitude to the Mexican Families who donate the brain of their loved ones affected with Alzheimer's disease, and made possible our research. This work was financially supported by CONACyT grant, No. 142293 (For R.M).Peer reviewedPublisher PD

    A 15-year perspective of the fabry outcome survey

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    The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala). Established in 2001, FOS provides long-term data on agala safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demonstrated correlations between ocular changes and Fabry disease severity. These FOS data represent a rich resource with utility not only for description of natural history/therapeutic effects but also for exploratory hypothesis testing and generation of tools for diagnosis/management, with the potential to improve future patient outcomes

    Lyman break and UV-selected galaxies at z1z \sim 1 I. Stellar populations from ALHAMBRA survey

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    We take advantage of the exceptional photometric coverage provided by the combination of GALEX data in the UV and the ALHAMBRA survey in the optical and near-IR to analyze the physical properties of a sample of 1225 GALEX-selected Lyman break galaxies (LBGs) at 0.8z1.20.8 \lesssim z \lesssim 1.2 located in the COSMOS field. This is the largest sample of LBGs studied at that redshift range so far. According to a spectral energy distribution (SED) fitting with synthetic stellar population templates, we find that LBGs at z1z \sim 1 are mostly young galaxies with a median age of 341 Myr and have intermediate dust attenuation,  0.20\ \sim 0.20. Due to their selection criterion, LBGs at z1z \sim 1 are UV-bright galaxies and have high dust-corrected total SFR, with a median value of 16.9 Myr1M_\odot {\rm yr}^{-1}. Their median stellar mass is log(M/M)=9.74\log{\left(M_*/M_\odot \right)} = 9.74. We obtain that the dust-corrected total SFR of LBGs increases with stellar mass and the specific SFR is lower for more massive galaxies. Only 2% of the galaxies selected through the Lyman break criterion have an AGN nature. LBGs at z1z \sim 1 are mostly located over the blue cloud of the color-magnitude diagram of galaxies at their redshift, with only the oldest and/or the dustiest deviating towards the green valley and red sequence. Morphologically, 69% of LBGs are disk-like galaxies, with the fraction of interacting, compact, or irregular systems being much lower, below 12%. LBGs have a median effective radius of 2.5 kpc and bigger galaxies have higher total SFR and stellar mass. Comparing to their high-redshift analogues, we find evidence that LBGs at lower redshifts are bigger, redder in the UV continuum, and have a major presence of older stellar populations in their SEDs. However, we do not find significant difference in the distributions of stellar mass or dust attenuation.Comment: Accepted for publication in MNRA

    Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

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    Background Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients. Methods We carried out a multicenter study in southwest Europe, of MCADD patients detected by NBS. Evaluated NBS data included free carnitine (C0) and the acylcarnitines C8, C10, C10:1 together with C8/C2 and C8/C10 ratios, clinical presentation parameters and genotype, in 45 patients. Follow-up data included C0 levels, duration of carnitine supplementation and occurrence of metabolic crises. Results C8/C2 ratio and C8 were the most accurate biomarkers of MCADD in NBS. We found a high number of patients homozygous for the prevalent c.985A > G mutation (75%). Moreover, in these patients C8, C8/C10 and C8/C2 were higher than in patients with other genotypes, while median value of C0 was significantly lower (23 μmol/L vs 36 μmol/L). The average follow-up period was 43 months. To keep carnitine levels within the normal range, carnitine supplementation was required in 82% of patients, and for a longer period in patients homozygotes for the c.985A>G mutation than in patients with other genotypes (average 31 vs 18 months). Even with treatment, median C0 levels remained lower in homozygous patients than in those with other genotypes (14 μmol/L vs 22 μmol/L). Two patients died and another three suffered a metabolic crisis, all of whom were homozygous for the c.985 A>G mutation. Conclusions Our data show a direct association between homozygosity for c.985A>G and lower carnitine values at diagnosis, and a higher dose of carnitine supplementation for maintenance within the normal range. This study contributes to a better understanding of the relationship between genotype and phenotype in newborn patients with MCADD detected through screening which could be useful in improving follow-up strategies and clinical outcome

    Gemini Observations of Galaxies in Rich Early Environments (GOGREEN) I : survey description.

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    We describe a new Large Program in progress on the Gemini North and South telescopes: Gemini Observations of Galaxies in Rich Early Environments (GOGREEN). This is an imaging and deep spectroscopic survey of 21 galaxy systems at 1 10 in halo mass. The scientific objectives include measuring the role of environment in the evolution of low-mass galaxies, and measuring the dynamics and stellar contents of their host haloes. The targets are selected from the SpARCS, SPT, COSMOS, and SXDS surveys, to be the evolutionary counterparts of today's clusters and groups. The new red-sensitive Hamamatsu detectors on GMOS, coupled with the nod-and-shuffle sky subtraction, allow simultaneous wavelength coverage over λ ∼ 0.6–1.05 μm, and this enables a homogeneous and statistically complete redshift survey of galaxies of all types. The spectroscopic sample targets galaxies with AB magnitudes z΄ < 24.25 and [3.6] μm < 22.5, and is therefore statistically complete for stellar masses M* ≳ 1010.3 M⊙, for all galaxy types and over the entire redshift range. Deep, multiwavelength imaging has been acquired over larger fields for most systems, spanning u through K, in addition to deep IRAC imaging at 3.6 μm. The spectroscopy is ∼50 per cent complete as of semester 17A, and we anticipate a final sample of ∼500 new cluster members. Combined with existing spectroscopy on the brighter galaxies from GCLASS, SPT, and other sources, GOGREEN will be a large legacy cluster and field galaxy sample at this redshift that spectroscopically covers a wide range in stellar mass, halo mass, and clustercentric radius

    The risk of lung cancer related to dietary intake of flavonoids

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    It has been hypothesized that flavonoids in foods and beverages may reduce cancer risk through antioxidation, inhibition of inflammation, and other antimutagenic and antiproliferative properties. We examined associations between intake of five flavonoid subclasses (anthocyanidins, flavan-3-ols, flavones, flavonols, flavanones) and lung cancer risk in a population-based case-control study in Montreal, Canada (1,061 cases and 1,425 controls). Flavonoid intake was estimated from a food frequency questionnaire that assessed diet two years prior to diagnosis (cases) or interview (controls). Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using unconditional logistic regression. Overall, total flavonoid intake was not associated with lung cancer risk, the effect being similar regardless of sex and smoking level. However, low flavonoid intake from food, but not from beverages, was associated with an increased risk. The adjusted ORs (95% CIs) comparing the highest versus the lowest quartiles of intake were 0.63 (0.47-0.85) for total flavonoids, 0.82 (0.61-1.11) for anthocyanidins, 0.67 (0.50-0.90) for flavan-3-ols, 0.68 (0.50-0.93) for flavones, 0.62 (0.45-0.84) for flavonols, and 0.70 (0.53-0.94) for flavanones. An inverse association with total flavone and flavanone intake was observed for squamous cell carcinoma but not adenocarcinoma. In conclusion, low flavonoid intake from food may increase lung cancer risk

    Loop Quantum Cosmology: A Status Report

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    The goal of this article is to provide an overview of the current state of the art in loop quantum cosmology for three sets of audiences: young researchers interested in entering this area; the quantum gravity community in general; and, cosmologists who wish to apply loop quantum cosmology to probe modifications in the standard paradigm of the early universe. An effort has been made to streamline the material so that, as described at the end of section I, each of these communities can read only the sections they are most interested in, without a loss of continuity.Comment: 138 pages, 15 figures. Invited Topical Review, To appear in Classical and Quantum Gravity. Typos corrected, clarifications and references adde

    Quantum Systems Equilibrate Rapidly for Most Observables

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    Considering any Hamiltonian, any initial state, and measurements with a small number of possible outcomes compared to the dimension, we show that most measurements are already equilibrated. To investigate non-trivial equilibration we therefore consider a restricted set of measurements. When the initial state is spread over many energy levels, and we consider the set of observables for which this state is an eigenstate, most observables are initially out of equilibrium yet equilibrate rapidly. Moreover, all two-outcome measurements, where one of the projectors is of low rank, equilibrate rapidly.Comment: Main Text: 5 pages, 1 figure. Appendices: 7 pages, 1 figur

    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

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    Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination. We show that mutations in SLC39A14 impair manganese transport in vitro and lead to manganese dyshomeostasis and altered locomotor activity in zebrafish with CRISPR-induced slc39a14 null mutations. Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement. Our results demonstrate that SLC39A14 functions as a pivotal manganese transporter in vertebrates
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