Measurement of key resonance states for the 40P(p,g)31S reaction rate, and the production of intermediate-mass elements in nova explosions

We report the first experimental constraints on spectroscopic factors and strengths of key resonances in the 30P(p, γ)31Sreaction critical for determining the production of intermediate-mass elements up to Ca in nova ejecta. The 30P(d, n)31Sreaction was studied in inverse kinematics using the GRETINA γ-ray array to measure the angle-integrated cross-sections of states above the proton threshold. In general, negative-parity states are found to be most strongly produced but the absolute values of spectroscopic factors are typically an order of magnitude lower than predicted by the shell-model calculations employing WBP Hamiltonian for the negative-parity states. The results clearly indicate the dominance of a single 3/2−resonance state at 196 keV in the region of nova burning T≈0.10–0.17GK, well within the region of interest for nova nucleosynthesis. Hydrodynamic simulations of nova explosions have been performed to demonstrate the effect on the composition of nova ejecta.Postprint (published version

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Measurement of key resonance states for the 40P(p,g)31S reaction rate, and the production of intermediate-mass elements in nova explosions

We report the first experimental constraints on spectroscopic factors and strengths of key resonances in the 30P(p, γ)31Sreaction critical for determining the production of intermediate-mass elements up to Ca in nova ejecta. The 30P(d, n)31Sreaction was studied in inverse kinematics using the GRETINA γ-ray array to measure the angle-integrated cross-sections of states above the proton threshold. In general, negative-parity states are found to be most strongly produced but the absolute values of spectroscopic factors are typically an order of magnitude lower than predicted by the shell-model calculations employing WBP Hamiltonian for the negative-parity states. The results clearly indicate the dominance of a single 3/2−resonance state at 196 keV in the region of nova burning T≈0.10–0.17GK, well within the region of interest for nova nucleosynthesis. Hydrodynamic simulations of nova explosions have been performed to demonstrate the effect on the composition of nova ejecta

Genetic variation for carbon isotope composition in Juglans regia L.: relationships with growth, phenology and climate of origin

• Among the traits of breeding interest for the common walnut tree Juglans regia L., characteristics such as timing of budbreak and leaf fall, water-use efficiency and growth performance are regarded as being of utmost relevance in Mediterranean conditions. • The authors evaluated intraspecific variation in $\delta$$^{13}$C (carbon isotope composition, surrogate of intrinsic water-use efficiency, WUE$_{\rm i}$) for 22 J. regia families grown in a progeny test under supplementary irrigation, and investigated whether such variation correlated with climatic indicators of native habitats. The genetic relationships between $\delta$$^{13}$C, growth and phenology were also assessed during two consecutive years. • Overall, the most water-use-efficient families (i.e. with higher $\delta$$^{13}$C), which originated mainly from drought-prone provenance regions which have a high vapour pressure deficit and low rainfall, exhibited less height growth and smaller DBH. Using a stepwise regression procedure, $\delta$$^{13}$C was included as the main explanatory variable of genotypic variation in growth traits, together with growing season duration (for DBH in both years) and flushing (for height in 2007). • It was concluded that WUE$_{\rm i}$ is largely unconnected to phenology effects in the explanation of growth performance for J. regia, therefore suggesting the opportunity of simultaneously selecting for low WUE$_{\rm i}$ and extended growing period to maximise productivity in non-water-limited environments.Variation génétique de la composition isotopique du carbone chez Juglans regia L.: relations avec la croissance, la phénologie et le climat d'origine. • Parmi les traits d'intérêt pour la sélection de noyer commun Juglans regia, des caractéristiques telles que la précocité de débourrement et la date de chute des feuilles, l'efficience d'utilisation de l'eau et la performance de croissance sont considérées comme étant importantes dans les conditions méditerranéennes. • Les auteurs ont évalué la variation intraspécifique de composition isotopique en 13C ($\delta$$^{13}$C, substitut de l'efficience intrinsèque d'utilisation de l'eau, WUE$_{\rm i}$) dans 22 familles de Juglans regia cultivées dans un essai de descendance avec une irrigation d'appoint, et ils ont examiné si la variation était corrélée avec les indicateurs du climat des habitats d'origine. Les relations génétiques entre $\delta$$^{13}$C, croissance et phénologie ont également été évaluées au cours de deux années consécutives. • En général, les familles présentant les plus fortes valeurs de WUE$_{\rm i}$ (c'est-à-dire avec le $\delta$$^{13}$C le plus élevé), qui proviennent essentiellement des régions de provenance à sécheresse élevée et à fort déficit de pression de vapeur et faibles précipitations, présentent une croissance en hauteur moindre et un plus faible diamètre à 1,3 m. En utilisant une procédure de régression par étapes, $\delta$$^{13}$C a été inclus en tant que principale variable explicative de la variation génotypique des caractéristiques de croissance, de concert avec la durée de la saison de croissance (pour le diamètre à 1,3 m) et le débourrement (pour la hauteur en 2007). • Il a été conclu que WUE$_{\rm i}$ est en grande partie sans rapport avec la phénologie dans l'explication de la performance de croissance pour J. regia, suggérant donc la possibilité de sélectionner simultanément pour de faibles niveaux de WUE$_{\rm i}$ et une période de croissance prolongée pour maximiser la productivité dans des environnements où l'eau n'est pas limitante

Expert consensus statements for the management of COVID-19-related acute respiratory failure using a Delphi method

Background: Coronavirus disease 2019 (COVID-19) pandemic has caused unprecedented pressure on healthcare system globally. Lack of high-quality evidence on the respiratory management of COVID-19-related acute respiratory failure (C-ARF) has resulted in wide variation in clinical practice. Methods: Using a Delphi process, an international panel of 39 experts developed clinical practice statements on the respiratory management of C-ARF in areas where evidence is absent or limited. Agreement was defined as achieved when > 70% experts voted for a given option on the Likert scale statement or > 80% voted for a particular option in multiple-choice questions. Stability was assessed between the two concluding rounds for each statement, using the non-parametric Chi-square (χ) test (p < 0·05 was considered as unstable). Results: Agreement was achieved for 27 (73%) management strategies which were then used to develop expert clinical practice statements. Experts agreed that COVID-19-related acute respiratory distress syndrome (ARDS) is clinically similar to other forms of ARDS. The Delphi process yielded strong suggestions for use of systemic corticosteroids for critical COVID-19; awake self-proning to improve oxygenation and high flow nasal oxygen to potentially reduce tracheal intubation; non-invasive ventilation for patients with mixed hypoxemic-hypercapnic respiratory failure; tracheal intubation for poor mentation, hemodynamic instability or severe hypoxemia; closed suction systems; lung protective ventilation; prone ventilation (for 16-24 h per day) to improve oxygenation; neuromuscular blocking agents for patient-ventilator dyssynchrony; avoiding delay in extubation for the risk of reintubation; and similar timing of tracheostomy as in non-COVID-19 patients. There was no agreement on positive end expiratory pressure titration or the choice of personal protective equipment. Conclusion: Using a Delphi method, an agreement among experts was reached for 27 statements from which 20 expert clinical practice statements were derived on the respiratory management of C-ARF, addressing important decisions for patient management in areas where evidence is either absent or limited. Trial registration: The study was registered with Clinical trials.gov Identifier: NCT04534569

Measurement of baryon acoustic oscillations in the Lyman-α forest fluctuations in BOSS data release 9

We use the Baryon Oscillation Spectroscopic Survey (BOSS) Data Release 9 (DR9) to detect and measure the position of the Baryonic Acoustic Oscillation (BAO) feature in the three-dimensional correlation function in the Lyman-α flux fluctuations at a redshift zeff = 2.4. The feature is clearly detected at significance between 3 and 5 sigma (depending on the broadband model and method of error covariance matrix estimation) and is consistent with predictions of the standard ΛCDM model. We assess the biases in our method, stability of the error covariance matrix and possible systematic effects. We fit the resulting correlation function with several models that decouple the broadband and acoustic scale information. For an isotropic dilation factor, we measure 100 × (αiso - 1) = -1.6+2.0 +4.3 +7.4-2.0 -4.1 -6.8 (stat.) ±1.0 (syst.) (multiple statistical errors denote 1,2 and 3 sigma confidence limits) with respect to the acoustic scale in the fiducial cosmological model (flat ΛCDM with Ωm = 0.27, h = 0.7). When fitting separately for the radial and transversal dilation factors we find marginalised constraints 100 × (α|| - 1) = -1.3+3.5 +7.6 +12.3-3.3 -6.7 -10.2 (stat.) ±2.0 (syst.) and 100 × (α⊥ - 1) = -2.2+7.4 +17-7.1 -15 (stat.) ±3.0 (syst.). The dilation factor measurements are significantly correlated with cross-correlation coefficient of ~ -0.55. Errors become significantly non-Gaussian for deviations over 3 standard deviations from best fit value. Because of the data cuts and analysis method, these measurements give tighter constraints than a previous BAO analysis of the BOSS DR9 Lyman-α sample, providing an important consistency test of the standard cosmological model in a new redshift regime