Do stochastic inhomogeneities affect dark-energy precision measurements?

The effect of a stochastic background of cosmological perturbations on the luminosity-redshift relation is computed to second order through a recently proposed covariant and gauge-invariant light-cone averaging procedure. The resulting expressions are free from both ultraviolet and infrared divergences, implying that such perturbations cannot mimic a sizable fraction of dark energy. Different averages are estimated and depend on the particular function of the luminosity distance being averaged. The energy flux, being minimally affected by perturbations at large z, is proposed as the best choice for precision estimates of dark-energy parameters. Nonetheless, its irreducible (stochastic) variance induces statistical errors on \Omega_{\Lambda}(z) typically lying in the few-percent range.Comment: 5 pages, 3 figures. Comments and references added. Typos corrected. Version accepted for publication in Phys. Rev. Let

Backreaction on the luminosity-redshift relation from gauge invariant light-cone averaging

Using a recently proposed gauge invariant formulation of light-cone averaging, together with adapted "geodesic light-cone" coordinates, we show how an "induced backreaction" effect emerges, in general, from correlated fluctuations in the luminosity distance and covariant integration measure. Considering a realistic stochastic spectrum of inhomogeneities of primordial (inflationary) origin we find that both the induced backreaction on the luminosity-redshift relation and the dispersion are larger than naively expected. On the other hand the former, at least to leading order and in the linear perturbative regime, cannot account by itself for the observed effects of dark energy at large-redshifts. A full second-order calculation, or even better a reliable estimate of contributions from the non-linear regime, appears to be necessary before firm conclusions on the correct interpretation of the data can be drawn.Comment: 22 pages, 4 figures. Comments and references added, Fig. 1 modified. Version accepted for publication in JCA

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

STUDY QUESTION: Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes confirming their deleterious effect on ovarian function? SUMMARY ANSWER: This integrated approach has proved effective in identifying novel candidate genes unveiling mechanisms involved in POI pathogenesis. WHAT IS KNOWN ALREADY: POI, a condition occurring in 1% of women under 40 years of age, affects women’s fertility leading to a premature loss of ovarian reserve. The genetic causes of POI are highly heterogeneous and several determinants contributing to its prominent oligogenic inheritance pattern still need to be elucidated. STUDY DESIGN, SIZE, DURATION: WES screening for pathogenic variants of 41 Italian women with non-syndromic primary and early secondary amenorrhoea occurring before age 25 was replicated on another 60 POI patients, including 35 French and 25 American women, to reveal statistically significant shared variants. PARTICIPANTS/MATERIALS, SETTING, METHODS: The Italian POI patients’ DNA were processed by targeted WES including 542 RefSeq genes expressed or functioning during distinct reproductive or ovarian processes (e.g. DNA repair, meiosis, oocyte maturation, folliculogenesis and menopause). Extremely rare variants were filtered and selected by means of a Fisher Exact test using several publicly available datasets. A case-control Burden test was applied to highlight the most significant genes using two ad-hoc control female cohorts. To support the obtained data, the identified genes were screened on a novel cohort of 60 Caucasian POI patients and the same case-control analysis was carried out. Comparative analysis of the human identified genes was performed on mouse and Drosophila melanogaster by analysing the orthologous genes in their ovarian phenotype, and two of the selected genes were fruit fly modelled to explore their role in fertility. MAIN RESULTS AND THE ROLE OF CHANCE: The filtering steps applied to search for extremely rare pathogenic variants in the Italian cohort revealed 64 validated single-nucleotide variants/Indels in 59 genes in 30 out of 41 screened women. Burden test analysis highlighted 13 ovarian genes as being the most enriched and significant. To validate these findings, filtering steps and Burden analysis on the second cohort of Caucasian patients yielded 11 significantly enriched genes. Among them, AFP, DMRT3, MOV10, FYN and MYC were significant in both patient cohorts and hence were considered strong candidates for POI. Mouse and Drosophila comparative analysis evaluated a conserved role through the evolution of several candidates, and functional studies using a Drosophila model, when applicable, supported the conserved role of the MOV10 armitage and DMRT3 dmrt93B orthologues in female fertility. LARGE SCALE DATA: The datasets for the Italian cohort generated during the current study are publicly available at ClinVar database (http://www.ncbi.nlm.nih.gov/clinvar/): accession numbers SCV001364312 to SCV001364375. LIMITATIONS, REASONS FOR CAUTION: This is a targeted WES analysis hunting variants in candidate genes previously identified by different genomic approaches. For most of the investigated sporadic cases, we could not track the parental inheritance, due to unavailability of the parents’ DNA samples; in addition, we might have overlooked additional rare variants in novel candidate POI genes extracted from the exome data. On the contrary, we might have considered some inherited variants whose clinical significance is uncertain and might not be causative for the patients’ phenotype. Additionally, as regards the Drosophila model, it will be extremely important in the future to have more mutants or RNAi strains available for each candidate gene in order to validate their role in POI pathogenesis. WIDER IMPLICATIONS OF THE FINDINGS: The genomic, statistical, comparative and functional approaches integrated in our study convincingly support the extremely heterogeneous oligogenic nature of POI, and confirm the maintenance across the evolution of some key genes safeguarding fertility and successful reproduction. Two principal classes of genes were identified: (i) genes primarily involved in meiosis, namely in synaptonemal complex formation, asymmetric division and oocyte maturation and (ii) genes safeguarding cell maintenance (piRNA and DNA repair pathways). STUDY FUNDING/COMPETING INTEREST(S): This work was supported by Italian Ministry of Health grants ‘Ricerca Corrente’ (08C621_2016 and 08C924_2019) provided to IRCCS Istituto Auxologico Italiano, and by ‘Piano Sostegno alla Ricerca’ (PSR2020_FINELLI_LINEA_B) provided by the University of Milan; M.P.B. was supported by Telethon-Italy (grant number GG14181). There are no conflicts of interest

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

STUDY QUESTION: Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes confirming their deleterious effect on ovarian function? SUMMARY ANSWER: This integrated approach has proved effective in identifying novel candidate genes unveiling mechanisms involved in POI pathogenesis. WHAT IS KNOWN ALREADY: POI, a condition occurring in 1% of women under 40 years of age, affects women’s fertility leading to a premature loss of ovarian reserve. The genetic causes of POI are highly heterogeneous and several determinants contributing to its promi-nent oligogenic inheritance pattern still need to be elucidated. STUDY DESIGN, SIZE, DURATION: WES screening for pathogenic variants of 41 Italian women with non-syndromic primary and early secondary amenorrhoea occurring before age 25 was replicated on another 60 POI patients, including 35 French and 25 American women, to reveal statistically significant shared variants. PARTICIPANTS/MATERIALS, SETTING, METHODS: The Italian POI patients’ DNA were processed by targeted WES including 542 RefSeq genes expressed or functioning during distinct reproductive or ovarian processes (e.g. DNA repair, meiosis, oocyte maturation, folliculogenesis and menopause). Extremely rare variants were filtered and selected by means of a Fisher Exact test using several publicly available datasets. A case-control Burden test was applied to highlight the most significant genes using two ad-hoc control female cohorts. To support the obtained data, the identified genes were screened on a novel cohort of 60 Caucasian POI patients and the same case-control analysis was carried out. Comparative analysis of the human identified genes was performed on mouse and Drosophila melanogaster by analysing the orthologous genes in their ovarian phenotype, and two of the selected genes were fruit fly modelled to explore their role in fertility.MAIN RESULTS AND THE ROLE OF CHANCE: The filtering steps applied to search for extremely rare pathogenic variants in the Italian cohort revealed 64 validated single-nucleotide variants/Indels in 59 genes in 30 out of 41 screened women. Burden test analysis highlighted 13 ovarian genes as being the most enriched and significant. To validate these findings, filtering steps and Burden analysis on the second cohort of Caucasian patients yielded 11 significantly enriched genes. Among them, AFP, DMRT3, MOV10, FYN and MYC were significant in both patient cohorts and hence were considered strong candidates for POI. Mouse and Drosophila comparative analysis evaluated a conserved role through the evolution of several candidates, and functional studies using a Drosophila model, when applicable, supported the conserved role of the MOV10 armitage and DMRT3 dmrt93B orthologues in female fertility

Assessment of the roughness factor effect and the intrinsic catalytic activity for hydrogen evolution reaction on Ni-based electrodeposits

The hydrogen evolution reaction (HER) was studied in 30 wt.% KOH solution at temperatures ranging between 30 and 80 °C on three type of electrodes: (i) rough pure Ni electrodeposits, obtained by applying a large current density; (ii) smooth NiCo electrodeposits; (iii) smooth commercial Ni electrodes. By using steady-state polarization curves and electrochemical impedance spectroscopy (EIS) the surface roughness factor and the intrinsic activities of the catalytic layers were determined. These techniques also permitted us to determine the mechanism and kinetics of the HER on the investigated catalysts. Different AC models were tested and the appropriate one was selected. The overall experimental data indicated that the rough/porous Ni electrode yields the highest electrocatalytic activity in the HER. Nevertheless, when the effect of the surface roughness was taken into consideration, it was demonstrated that alloying Ni with Co results in an increased electrocatalytic activity in the HER when comparing to pure Ni. This is due to an improved intrinsic activity of the material, which was explained on the basis of the synergism among the catalytic properties of Ni (low hydrogen overpotential) and of Co (high hydrogen adsorption).Isaac Herraiz-Cardona is grateful to the Ministerio de Ciencia e Innovacion (Spain) for a postgraduate grant (Ref. AP2007-03737). This work was supported by Generalitat Valenciana (Project PROMETEO/2010/023)Herraiz Cardona, I.; Ortega Navarro, EM.; Garcia-Anton, J.; Pérez-Herranz, V. (2011). Assessment of the roughness factor effect and the intrinsic catalytic activity for hydrogen evolution reaction on Ni-based electrodeposits. International Journal of Hydrogen Energy. 36(16):9428-9438. https://doi.org/10.1016/j.ijhydene.2011.05.047S94289438361

One-loop corrections to a scalar field during inflation

The leading quantum correction to the power spectrum of a gravitationally-coupled light scalar field is calculated, assuming that it is generated during a phase of single-field, slow-roll inflation.Comment: 33 pages, uses feynmp.sty and ioplatex journal style. v2: matches version published in JCAP. v3: corrects sign error in Eq. (58). Corrects final coefficient of the logarithm in Eq. (105). Small corrections to discussion of divergences in 1-point function. Minor improvements to discussion of UV behaviour in Sec. 4.

One-loop f(R) gravity in de Sitter universe

Motivated by the dark energy issue, the one-loop quantization approach for a family of relativistic cosmological theories is discussed in some detail. Specifically, general $f(R)$ gravity at the one-loop level in a de Sitter universe is investigated, extending a similar program developed for the case of pure Einstein gravity. Using generalized zeta regularization, the one-loop effective action is explicitly obtained off-shell, what allows to study in detail the possibility of (de)stabilization of the de Sitter background by quantum effects. The one-loop effective action maybe useful also for the study of constant curvature black hole nucleation rate and it provides the plausible way of resolving the cosmological constant problem.Comment: 25 pages, Latex file. Discussion enlarged, new references added. Version accepted in JCA

Weighed scalar averaging in LTB dust models, part I: statistical fluctuations and gravitational entropy

We introduce a weighed scalar average formalism ("q-average") for the study of the theoretical properties and the dynamics of spherically symmetric Lemaitre-Tolman-Bondi (LTB) dust models models. The "q-scalars" that emerge by applying the q-averages to the density, Hubble expansion and spatial curvature (which are common to FLRW models) are directly expressible in terms of curvature and kinematic invariants and identically satisfy FLRW evolution laws without the back-reaction terms that characterize Buchert's average. The local and non-local fluctuations and perturbations with respect to the q-average convey the effects of inhomogeneity through the ratio of curvature and kinematic invariants and the magnitude of radial gradients. All curvature and kinematic proper tensors that characterize the models are expressible as irreducible algebraic expansions on the metric and 4-velocity, whose coefficients are the q-scalars and their linear and quadratic local fluctuations. All invariant contractions of these tensors are quadratic fluctuations, whose q-averages are directly and exactly related to statistical correlation moments of the density and Hubble expansion scalar. We explore the application of this formalism to a definition of a gravitational entropy functional proposed by Hosoya et al (2004 Phys. Rev. Lett. 92 141302). We show that a positive entropy production follows from a negative correlation between fluctuations of the density and Hubble scalar, providing a brief outline on its fulfillment in various LTB models and regions. While the q-average formalism is specially suited for LTB and Szekeres models, it may provide a valuable theoretical insight on the properties of scalar averaging in inhomogeneous spacetimes in general.Comment: 27 pages in IOP format, 1 figure. Matches version accepted for publication in Classical and Quantum Gravit

Non-perturbative results for the luminosity and area distances

The notion of luminosity distance is most often defined in purely FLRW (Friedmann-Lemaitre-Robertson-Walker) cosmological spacetimes, or small perturbations thereof. However, the abstract notion of luminosity distance is actually much more robust than this, and can be defined non-perturbatively in almost arbitrary spacetimes. Some quite general results are already known, in terms of dAobserver/d\u3a9source, the cross-sectional area per unit solid angle of a null geodesic spray emitted from some source and subsequently detected by some observer. We shall reformulate these results in terms of a suitably normalized null geodesic affine parameter and the van Vleck determinant, \u394vV. The contribution due to the null geodesic affine parameter is effectively the inverse square law for luminosity, and the van Vleck determinant can be viewed as providing a measure of deviations from the inverse square law. This formulation is closely related to the so-called Jacobi determinant, but the van Vleck determinant has somewhat nicer analytic properties and wider and deeper theoretical base in the general relativity, quantum physics, and quantum field theory communities. In the current article we shall concentrate on non-perturbative results, leaving near-FLRW perturbative investigation for future work