Quantitative genetics of disease traits

John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics

Emergence of Fermi pockets in an excitonic CDW melted novel superconductor

A superconducting (SC) state (Tc ~ 4.2K) has very recently been observed upon successful doping of the CDW ordered triangular lattice TiSe$_2$, with copper. Using high resolution photoemission spectroscopy we identify, for the first time, the momentum space locations of the doped electrons that form the Fermi sea of the parent superconductor. With doping, we find that the kinematic nesting volume increases whereas the coherence of the CDW order sharply drops. In the superconducting doping, we observe the emergence of a large density of states in the form of a narrow electron pocket near the \textit{L}-point of the Brillouin Zone with \textit{d}-like character. The \textit{k}-space electron distributions highlight the unconventional interplay of CDW to SC cross-over achieved through non-magnetic copper doping.Comment: 4+ pages, 5 figures; Accepted for publication in Phys. Rev. Lett. (2007

Exercise Mode in Heart Failure: A Systematic Review and Meta-Analysis

Background Optimising exercise prescription in heart failure (HF) with a preserved (HFpEF) or reduced (HFrEF) ejection fraction is clinically important. As such, the aim of this meta-analysis was to compare traditional moderate intensity training (MIT) against combined aerobic and resistance training (CT) and high-intensity interval training (HIIT) for improving aerobic capacity (VO 2 ), as well as other clinically relevant parameters. Methods A comprehensive systematic search was performed to identify randomised controlled trials published between 1990 and May 2021. Research trials reporting the effects of MIT against CT or HIIT on peak VO 2 in HFpEF or HFrEF were considered. Left-ventricular ejection fraction (LVEF) and various markers of diastolic function were also analysed. Results Seventeen studies were included in the final analysis, 4 of which compared MIT against CT and 13 compared MIT against HIIT. There were no significant differences between MIT and CT for peak VO 2 (weighted mean difference [WMD]: 0.521 ml min ⁻¹ kg ⁻¹ , [95% CI] = − 0.7 to 1.8, P fixed = 0.412) or LVEF (WMD: − 1.129%, [95% CI] = − 3.8 to 1.5, P fixed = 0.408). However, HIIT was significantly more effective than MIT at improving peak VO 2 (WMD: 1.62 ml min ⁻¹ kg ⁻¹ , [95% CI] = 0.6–2.6, P random = 0.002) and LVEF (WMD: 3.24%, [95% CI] = 1.7–4.8, P random < 0.001) in HF patients. When dichotomized by HF phenotype, HIIT remained significantly more effective than MIT in all analyses except for peak VO 2 in HFpEF. Conclusions HIIT is significantly more effective than MIT for improving peak VO 2 and LVEF in HF patients. With the exception of peak VO 2 in HFpEF, these findings remain consistent in both phenotypes. Separately, there is no difference in peak VO 2 and LVEF change following MIT or CT, suggesting that the addition of resistance exercise does not inhibit aerobic adaptations in HF

Complete d-Band Dispersion and the Mobile Fermion Scale in NaxCoO2

We utilize fine-tuned polarization selection coupled with excitation-energy variation of photoelectron signal to image the \textit{complete d}-band dispersion relation in sodium cobaltates. A hybridization gap anticrossing is observed along the Brillouin zone corner and the full quasiparticle band is found to emerge as a many-body entity lacking a pure orbital polarization. At low dopings, the quasiparticle bandwidth (Fermion scale, many-body \textit{E$_F$} $\sim$ 0.25 eV) is found to be smaller than most known oxide metals. The low-lying density of states is found to be in agreement with bulk-sensitive thermodynamic measurements for nonmagnetic dopings where the 2D Luttinger theorem is also observed to be satisfied.Comment: 4+ pages, 5 Fig

Low-lying quasiparticle states and hidden collective charge instabilities in parent cobaltate superconductors (NaxCoO2)

We report a state-of-the-art photoemission (ARPES) study of high quality single crystals of the NaxCoO2 series focusing on the fine details of the low-energy states. The Fermi velocity is found to be small (< 0.5 eV.A) and only weakly anisotropic over the Fermi surface at all dopings setting the size of the pair wavefunction to be on the order of 10-20 nanometers. In the low doping regime the exchange inter-layer splitting vanishes and two dimensional collective instabilities such as 120-type fluctuations become kinematically allowed. Our results suggest that the unusually small Fermi velocity and the unique symmetry of kinematic instabilities distinguish cobaltates from other unconventional oxide superconductors such as the cuprates or the ruthenates.Comment: Accepted for publication in Phys. Rev. Lett. (2006

Solar dynamo

No abstract available

Quasiparticle coherence and the nature of the metal-insulator phase transition in Nax_xCoO2_2

Layered cobaltates embody novel realizations of correlated quantum matter on a spin-1/2 triangular lattice. We report a high-resolution systematic photoemission study of the insulating cobaltates (Na1/2CoO2 and K1/2CoO2). Observation of single-particle gap opening and band-folding provides direct evidence of anisotropic particle-hole instability on the Fermi surface due to its unique topology. Kinematic overlap of the measured Fermi surface is observed with the $\sqrt{3}$x$\sqrt{3}$ cobalt charge-order Brillouin zone near x=1/3 but not at x=1/2 where insulating transition is actually observed. Unlike conventional density-waves, charge-stripes or band insulators, the on-set of the gap depends on the quasiparticle's quantum coherence which is found to occur well below the disorder-order symmetry breaking temperature of the crystal (the first known example of its kind).Comment: 4+ pages, 5 figure