CMB power spectrum parameter degeneracies in the era of precision cosmology

Cosmological parameter constraints from the CMB power spectra alone suffer several well-known degeneracies. These degeneracies can be broken by numerical artefacts and also a variety of physical effects that become quantitatively important with high-accuracy data e.g. from the Planck satellite. We study degeneracies in models with flat and non-flat spatial sections, non-trivial dark energy and massive neutrinos, and investigate the importance of various physical degeneracy-breaking effects. We test the CAMB power spectrum code for numerical accuracy, and demonstrate that the numerical calculations are accurate enough for degeneracies to be broken mainly by true physical effects (the integrated Sachs-Wolfe effect, CMB lensing and geometrical and other effects through recombination) rather than numerical artefacts. We quantify the impact of CMB lensing on the power spectra, which inevitably provides degeneracy-breaking information even without using information in the non-Gaussianity. Finally we check the numerical accuracy of sample-based parameter constraints using CAMB and CosmoMC. In an appendix we document recent changes to CAMB's numerical treatment of massive neutrino perturbations, which are tested along with other recent improvements by our degeneracy exploration results.Comment: 27 pages, 28 figures. Latest CAMB version available from http://camb.info/. Reduced number of figures, plot legend corrected and minor edits to match published versio

Familial co-occurrence of congenital heart defects follows distinct patterns

Aims Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. Methods and results We calculated rates of concordance and discordance for 41 specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly more or less often than expected in families. The data show that distinct groups of cardiac malformations co-occur in families, suggesting influence from underlying developmental mechanisms. Analysis of human and mouse susceptibility genes showed that they were shared in 19% and 20% of pairs of co-occurring discordant malformations, respectively, but none of malformations that rarely co-occur, suggesting that a significant proportion of co-occurring lesions in families is caused by overlapping susceptibility genes. Conclusion Familial CHD follow specific patterns of recurrence, suggesting a strong influence from genetically regulated developmental mechanisms. Co-occurrence of malformations in families is caused by shared susceptibility genes

Growth of cosmic structure:probing dark energy beyond expansion

The quantity and quality of cosmic structure observations have greatly accelerated in recent years, and further leaps forward will be facilitated by imminent projects. These will enable us to map the evolution of dark and baryonic matter density fluctuations over cosmic history. The way that these fluctuations vary over space and time is sensitive to several pieces of fundamental physics: the primordial perturbations generated by GUT-scale physics; neutrino masses and interactions; the nature of dark matter and dark energy. We focus on the last of these here: the ways that combining probes of growth with those of the cosmic expansion such as distance-redshift relations will pin down the mechanism driving the acceleration of the Universe. One way to explain the acceleration of the Universe is invoke dark energy parameterized by an equation of state w. Distance measurements provide one set of constraints on w, but dark energy also affects how rapidly structure grows; the greater the acceleration, the more suppressed the growth of structure. Upcoming surveys are therefore designed to probe w with direct observations of the distance scale and the growth of structure, each complementing the other on systematic errors and constraints on dark energy. A consistent set of results will greatly increase the reliability of the final answer. Another possibility is that there is no dark energy, but that General Relativity does not describe the laws of physics accurately on large scales. While the properties of gravity have been measured with exquisite precision at stellar system scales and densities, within our solar system and by binary pulsar systems, its properties in different environments are poorly constrained. To fully understand if General Relativity is the complete theory of gravity we must test gravity across a spectrum of scales and densities. Rapid developments in gravitational wave astronomy and numerical relativity are directed at testing gravity in the high curvature, high density regime. Cosmological evolution provides a polar opposite test bed, probing how gravity behaves in the lowest curvature, low density environments. There are a number of different implementations of astrophysically relevant modifications of gravity. Generically, the models are able to reproduce the distance measurements while at the same time altering the growth of structure. In particular, as detailed below, the Poisson equation relating over-densities to gravitational potentials is altered, and the potential that determines the geodesics of relativistic particles (such as photons) differs from the potential that determines the motion of non-relativistic particles. Upcoming surveys will exploit these differences to determine whether the acceleration of the Universe is due to dark energy or to modified gravity. To realize this potential, both wide field imaging and spectroscopic redshift surveys play crucial roles. Projects including DES, eBOSS, DESI, PFS, LSST, Euclid, and WFIRST are in line to map more than a 1000 cubic-billion-light-year volume of the Universe. These will map the cosmic structure growth rate to 1% in the redshift range 0<2, over the last 3/4 of the age of the Universe

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature

Data on the prevalence of congenital heart defects (CHD) in neuroblastoma patients are inconsistent. If CHD are more common in neuroblastoma patients than in the general population, cardiac screening might be warranted. In this study we used echocardiography to determine the prevalence of CHD in a single centre cohort of surviving neuroblastoma patients. In addition, we performed a systematic review of the literature. Echocardiography was performed in 119 of 133 patients (89.5%). Only two patients (1.7%) had CHD. The prevalence of CHD was not significantly different from a previously published control group of 192 leukaemia patients examined by echocardiography (P = 0.49). Literature search revealed 17 studies, showing prevalence rates of CHD in neuroblastoma patients ranging from 0 to 20%. Prevalence was less than 3.6% in the majority of studies. Most studies lacked information on validity. We conclude that current evidence does not support standard cardiac screening in all patients with neuroblastoma

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10−7) and replicated convincingly (P = 3.9 × 10−5) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10−11 in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10−7) and replicated convincingly (P = 1.2 × 10−5) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10−11 in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TO

The Atacama Cosmology Telescope: Cosmology from cross-correlations of unWISE galaxies and ACT DR6 CMB lensing

We present tomographic measurements of structure growth using cross-correlations of Atacama Cosmology Telescope (ACT) DR6 and Planck CMB lensing maps with the unWISE Blue and Green galaxy samples, which span the redshift ranges $0.2 \lesssim z \lesssim 1.1$ and $0.3 \lesssim z \lesssim 1.8$, respectively. We improve on prior unWISE cross-correlations not just by making use of the new, high-precision ACT DR6 lensing maps, but also by including additional spectroscopic data for redshift calibration and by analysing our measurements with a more flexible theoretical model. An extensive suite of systematic and null tests within a blind analysis framework ensures that our results are robust. We determine the amplitude of matter fluctuations at low redshifts ($z\simeq 0.2-1.6$), finding $S_8 \equiv \sigma_8 (\Omega_m / 0.3)^{0.5} = 0.813 \pm 0.021$ using the ACT cross-correlation alone and $S_8 = 0.810 \pm 0.015$ with a combination of Planck and ACT cross-correlations; these measurements are fully consistent with the predictions from primary CMB measurements assuming standard structure growth. The addition of Baryon Acoustic Oscillation data breaks the degeneracy between $\sigma_8$ and $\Omega_m$, allowing us to measure $\sigma_8 = 0.813 \pm 0.020$ from the cross-correlation of unWISE with ACT and $\sigma_8 = 0.813\pm 0.015$ from the combination of cross-correlations with ACT and Planck. These results also agree with the expectations from primary CMB extrapolations in $\Lambda$CDM cosmology; the consistency of $\sigma_8$ derived from our two redshift samples at $z \sim 0.6$ and $1.1$ provides a further check of our cosmological model. Our results suggest that structure formation on linear scales is well described by $\Lambda$CDM even down to low redshifts $z\lesssim 1$.Comment: 73 pages (incl. 30 pages of appendices), 50 figures, 16 tables, to be submitted to ApJ. Watch G. S. Farren and A. Krolewski discuss the analysis and results under https://cosmologytalks.com/2023/09/11/act-unwis

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding β -myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein's anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein's anomaly and LVNC and its implications for the clinical care for patients and their family members

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

International audienceBACKGROUND:Full-term pregnancy (FTP) is associated with a reduced breast cancer (BC) risk over time, but women are at increased BC risk in the immediate years following an FTP. No large prospective studies, however, have examined whether the number and timing of pregnancies are associated with BC risk for BRCA1 and BRCA2 mutation carriers.METHODS:Using weighted and time-varying Cox proportional hazards models, we investigated whether reproductive events are associated with BC risk for mutation carriers using a retrospective cohort (5707 BRCA1 and 3525 BRCA2 mutation carriers) and a prospective cohort (2276 BRCA1 and 1610 BRCA2 mutation carriers), separately for each cohort and the combined prospective and retrospective cohort.RESULTS:For BRCA1 mutation carriers, there was no overall association with parity compared with nulliparity (combined hazard ratio [HRc] = 0.99, 95% confidence interval [CI] = 0.83 to 1.18). Relative to being uniparous, an increased number of FTPs was associated with decreased BC risk (HRc = 0.79, 95% CI = 0.69 to 0.91; HRc = 0.70, 95% CI = 0.59 to 0.82; HRc = 0.50, 95% CI = 0.40 to 0.63, for 2, 3, and ≥4 FTPs, respectively, P trend < .0001) and increasing duration of breastfeeding was associated with decreased BC risk (combined cohort P trend = .0003). Relative to being nulliparous, uniparous BRCA1 mutation carriers were at increased BC risk in the prospective analysis (prospective hazard ration [HRp] = 1.69, 95% CI = 1.09 to 2.62). For BRCA2 mutation carriers, being parous was associated with a 30% increase in BC risk (HRc = 1.33, 95% CI = 1.05 to 1.69), and there was no apparent decrease in risk associated with multiparity except for having at least 4 FTPs vs. 1 FTP (HRc = 0.72, 95% CI = 0.54 to 0.98).CONCLUSIONS:These findings suggest differential associations with parity between BRCA1 and BRCA2 mutation carriers with higher risk for uniparous BRCA1 carriers and parous BRCA2 carriers