Cosmological Parameters Degeneracies and Non-Gaussian Halo Bias

We study the impact of the cosmological parameters uncertainties on the measurements of primordial non-Gaussianity through the large-scale non-Gaussian halo bias effect. While this is not expected to be an issue for the standard LCDM model, it may not be the case for more general models that modify the large-scale shape of the power spectrum. We consider the so-called local non-Gaussianity model and forecasts from planned surveys, alone and combined with a Planck CMB prior. In particular, we consider EUCLID- and LSST-like surveys and forecast the correlations among $f_{\rm NL}$ and the running of the spectral index $\alpha_s$, the dark energy equation of state $w$, the effective sound speed of dark energy perturbations $c^2_s$, the total mass of massive neutrinos $M_\nu=\sum m_\nu$, and the number of extra relativistic degrees of freedom $N_\nu^{rel}$. Neglecting CMB information on $f_{\rm NL}$ and scales $k > 0.03 h$/Mpc, we find that, if $N_\nu^{\rm rel}$ is assumed to be known, the uncertainty on cosmological parameters increases the error on $f_{\rm NL}$ by 10 to 30% depending on the survey. Thus the $f_{\rm NL}$ constraint is remarkable robust to cosmological model uncertainties. On the other hand, if $N_\nu^{\rm rel}$ is simultaneously constrained from the data, the $f_{\rm NL}$ error increases by $\sim 80$. Finally, future surveys which provide a large sample of galaxies or galaxy clusters over a volume comparable to the Hubble volume can measure primordial non-Gaussianity of the local form with a marginalized 1--$\sigma$ error of the order $\Delta f_{\rm NL} \sim 2-5$, after combination with CMB priors for the remaining cosmological parameters. These results are competitive with CMB bispectrum constraints achievable with an ideal CMB experiment.Comment: 17 pages, 1 figure added, typos corrected, comments added, matches the published versio

J-PLUS: The javalambre photometric local universe survey

ABSTRACT: TheJavalambrePhotometric Local UniverseSurvey (J-PLUS )isanongoing 12-band photometricopticalsurvey, observingthousands of squaredegrees of theNorthernHemispherefromthededicated JAST/T80 telescope at the Observatorio Astrofísico de Javalambre (OAJ). The T80Cam is a camera with a field of view of 2 deg2 mountedon a telescopewith a diameter of 83 cm, and isequippedwith a uniquesystem of filtersspanningtheentireopticalrange (3500–10 000 Å). Thisfiltersystemis a combination of broad-, medium-, and narrow-band filters, optimallydesigned to extracttherest-framespectralfeatures (the 3700–4000 Å Balmer break region, Hδ, Ca H+K, the G band, and the Mg b and Ca triplets) that are key to characterizingstellartypes and delivering a low-resolutionphotospectrumforeach pixel of theobservedsky. With a typicaldepth of AB ∼21.25 mag per band, thisfilter set thusallowsforanunbiased and accuratecharacterization of thestellarpopulation in our Galaxy, itprovidesanunprecedented 2D photospectralinformationforall resolved galaxies in the local Universe, as well as accuratephoto-z estimates (at the δ z/(1 + z)∼0.005–0.03 precisionlevel) formoderatelybright (up to r ∼ 20 mag) extragalacticsources. Whilesomenarrow-band filters are designedforthestudy of particular emissionfeatures ([O II]/λ3727, Hα/λ6563) up to z < 0.017, theyalsoprovidewell-definedwindowsfortheanalysis of otheremissionlines at higherredshifts. As a result, J-PLUS has thepotential to contribute to a widerange of fields in Astrophysics, both in thenearbyUniverse (MilkyWaystructure, globular clusters, 2D IFU-likestudies, stellarpopulations of nearby and moderate-redshiftgalaxies, clusters of galaxies) and at highredshifts (emission-line galaxies at z ≈ 0.77, 2.2, and 4.4, quasi-stellarobjects, etc.). Withthispaper, wereleasethefirst∼1000 deg2 of J-PLUS data, containingabout 4.3 millionstars and 3.0 milliongalaxies at r <  21mag. With a goal of 8500 deg2 forthe total J-PLUS footprint, thesenumbers are expected to rise to about 35 millionstars and 24 milliongalaxiesbytheend of thesurvey.Funding for the J-PLUS Project has been provided by the Governments of Spain and Aragón through the Fondo de Inversiones de Teruel, the Spanish Ministry of Economy and Competitiveness (MINECO; under grants AYA2017-86274-P, AYA2016-77846-P, AYA2016-77237-C3-1-P, AYA2015-66211-C2-1-P, AYA2015-66211-C2-2, AYA2012-30789, AGAUR grant SGR-661/2017, and ICTS-2009-14), and European FEDER funding (FCDD10-4E-867, FCDD13-4E-2685

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson’s coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multivariate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset [smaller allele hazard ratio (HR) = 2.06, P < 0.001; larger allele HR = 1.53, P < 0.001] and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, P < 0.001; larger allele HR = 1.71, P = 0.002) or loss of independent walking (smaller allele HR = 2.78, P < 0.001; larger allele HR = 1.60; P < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions [smaller allele: complex neuropathy rate ratio (RR) = 1.30, P = 0.003; cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) RR = 1.34, P < 0.001; larger allele: complex neuropathy RR = 1.33, P = 0.008; CANVAS RR = 1.31, P = 0.009]. Furthermore, larger repeat expansions in the smaller allele were associated with more pronounced cerebellar vermis atrophy (lobules I–V β = −1.06, P < 0.001; lobules VI–VII β = −0.34, P = 0.005). The repeat did not show significant instability during vertical transmission and across different tissues and brain regions. RFC1 repeat size, particularly of the smaller allele, is one of the determinants of variability in RFC1 disease and represents a key prognostic factor to predict disease onset, phenotype and severity. Assessing the repeat size is warranted as part of the diagnostic test for RFC1 expansion

Rising rural body-mass index is the main driver of the global obesity epidemic in adults

Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities 1,2 . This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity 3�6 . Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55 of the global rise in mean BMI from 1985 to 2017�and more than 80 in some low- and middle-income regions�was due to increases in BMI in rural areas. This large contribution stems from the fact that, with the exception of women in sub-Saharan Africa, BMI is increasing at the same rate or faster in rural areas than in cities in low- and middle-income regions. These trends have in turn resulted in a closing�and in some countries reversal�of the gap in BMI between urban and rural areas in low- and middle-income countries, especially for women. In high-income and industrialized countries, we noted a persistently higher rural BMI, especially for women. There is an urgent need for an integrated approach to rural nutrition that enhances financial and physical access to healthy foods, to avoid replacing the rural undernutrition disadvantage in poor countries with a more general malnutrition disadvantage that entails excessive consumption of low-quality calories. © 2019, The Author(s)

Repositioning of the global epicentre of non-optimal cholesterol

High blood cholesterol is typically considered a feature of wealthy western countries1,2. However, dietary and behavioural determinants of blood cholesterol are changing rapidly throughout the world3 and countries are using lipid-lowering medications at varying rates. These changes can have distinct effects on the levels of high-density lipoprotein (HDL) cholesterol and non-HDL cholesterol, which have different effects on human health4,5. However, the trends of HDL and non-HDL cholesterol levels over time have not been previously reported in a global analysis. Here we pooled 1,127 population-based studies that measured blood lipids in 102.6 million individuals aged 18 years and older to estimate trends from 1980 to 2018 in mean total, non-HDL and HDL cholesterol levels for 200 countries. Globally, there was little change in total or non-HDL cholesterol from 1980 to 2018. This was a net effect of increases in low- and middle-income countries, especially in east and southeast Asia, and decreases in high-income western countries, especially those in northwestern Europe, and in central and eastern Europe. As a result, countries with the highest level of non-HDL cholesterol�which is a marker of cardiovascular risk�changed from those in western Europe such as Belgium, Finland, Greenland, Iceland, Norway, Sweden, Switzerland and Malta in 1980 to those in Asia and the Pacific, such as Tokelau, Malaysia, The Philippines and Thailand. In 2017, high non-HDL cholesterol was responsible for an estimated 3.9 million (95 credible interval 3.7 million�4.2 million) worldwide deaths, half of which occurred in east, southeast and south Asia. The global repositioning of lipid-related risk, with non-optimal cholesterol shifting from a distinct feature of high-income countries in northwestern Europe, north America and Australasia to one that affects countries in east and southeast Asia and Oceania should motivate the use of population-based policies and personal interventions to improve nutrition and enhance access to treatment throughout the world. © 2020, The Author(s), under exclusive licence to Springer Nature Limited

Variação sazonal na morfologia dos ductos eferentes distais em codorna doméstica mantida em cativeiro experimental Morphologic seasonal variability on the distal efferent ducts of domestic quail under experimental captive breeding

Neste estudo diferenças expressivas foram observadas na estrutura dos ductos eferentes distais (DED) de codorna doméstica Coturnix coturnix, da variedade italiana, mantida em cativeiro experimental durante dois anos, durante as quatro estações do ano. A variabilidade morfológica dos DED foi mais marcante na primavera e no outono, eqüivalendo às fases ativa e quiescente do ciclo reprodutivo anual (ciclo testicular) nesta ave. Nessas fases do ciclo, diferenças significativas foram observadas na ultraestrutura das células principais (P) e ciliadas (C) do epitélio de revestimento tubular e nos calibres tubulares. Estes tiveram valores médios maiores na primavera, com valores similares no verão e no inverno, e valores médios menores observados no outono. Na primavera, no citoplasma apical de células P, notou-se maior complexidade organelar, inferindo-se a ocorrência de processos endocitóticos ativos. A quiescência outonal caracterizou-se por redução do calibre tubular dos DED, luz tubular vazia de espermatozóides, degenerações de organelas citoplasmáticas e "debridamentos" citoplasmáticos apicais em células P e C. No inverno e verão, correspondentes às fases recrudescente e regressiva, respectivamente, do ciclo testicular nesta espécie, os dados obtidos foram, de modo geral, similares aos observados na primavera.<br>Some expressive differences were noted on the distal efferent ducts (DED) morphology in domestic quail of the Italian variety along the year. The birds were maintained on experimental captive breeding along two consecutive years, before the morphologic studies. Morphologic differences on the DED had been more evident in spring and autumn respectively, the active and quiescent phases of the annual testis cycle. Variability more expressive was noted among the principal (P) and ciliated (C) epithelial cells and in tubular diameters of DED, during the two focused seasons. Spring features of DED were marked by relative enlargement of the passageways, with similar results in summer and winter, and characteristic organelle development on the apical cytoplasm of P cells, allowing to conclude presence of active process of endocytosis. Autumn quiescence was marked by an enfolding pattern of all the tubular passageways, lacking of spermatozoa and small amount of heterogeneous material inside their luminal compartments, followed by presence of ultrastructural degenerative features in apical cytoplasm of P cells and C cells in DED passageways. Tubular features verified in DED during winter and summer were minor and similar to those described in spring. Summer and winter were respectively considered the recrudescent and regressive phases of the testis cycle in these species, based on the spermatogenesis cycle analysed in all the seasons of the year as well as on the base the morphologic features here found