Electron-electron interactions and two-dimensional - two-dimensional tunneling

We derive and evaluate expressions for the dc tunneling conductance between interacting two-dimensional electron systems at non-zero temperature. The possibility of using the dependence of the tunneling conductance on voltage and temperature to determine the temperature-dependent electron-electron scattering rate at the Fermi energy is discussed. The finite electronic lifetime produced by electron-electron interactions is calculated as a function of temperature for quasiparticles near the Fermi circle. Vertex corrections to the random phase approximation substantially increase the electronic scattering rate. Our results are in an excellent quantitative agreement with experiment.Comment: Revtex style, 21 pages and 8 postscript figures in a separate file; Phys. Rev. B (in press

Impurity effects on s+g-wave superconductivity in borocarbides Y(Lu)Ni_2B_2C

Recently a hybrid s+g-wave pairing is proposed to describe the experimental observation for a nodal structure of the superconducting gap in borocarbide YNi$_2$B$_2$C and possibly LuNi$_2$B$_2$C. In this paper the impurity effects on the s+g-wave superconductivity are studied in both Born and unitarity limit. The quasiparticle density of states and thermodynamics are calculated. It is found that the nodal excitations in the clean system are immediately prohibited by impurity scattering and a finite energy gap increases quickly with the impurity scattering rate. This leads to an activated behavior in the temperature dependence of the specific heat. Qualitative agreement with the experimental results is shown. Comparison with d-wave and some anisotropic s-wave studied previously is also made.Comment: 6 pages, 6 eps figure

Predicting high-risk patients using the International IGA Nephropathy risk prediction tool: a preliminary single-centre analysis

Introduction The International IgA Nephropathy Risk Prediction Tool (IgAN- RPT) has been utilized to predict renal progression up to 5 or 7 years after biopsy via histological and clinical risk factors. We reported the preliminary analysis of the renal outcome of IgAN patients in relation to their predicted risk based on the IgAN-RPT at biopsy. Methods We included 29 biopsy-proven adult IgAN patients diagnosed between 2010 and 2017. The IgAN-RPT predicted risk score at 5 years was calculated for each patient. The primary outcome was the risk of developing a 50% decline in the estimated glomerular filtration rate (eGFR) or end stage renal disease (ESRD) at 5 years after biopsy. Independent Student T-test and chi-square analysis were used to compare the clinical data between groups, while Kaplan-Meier survival analysis was done to compare the predicted and observed outcomes within risk groups using SPSS 26 (2020; IBM Corp., Armonk, NY, USA). Results Our cohort consisted of 13 Chinese, 12 Malay and 4 Indian patients with a mean eGFR of 68.2 (±5.7) at biopsy. The median 5-year IgAN-RPT risk score was 13.12% (IQR: 6.02 to 28.00). 20.7% (n=6) reached the primary outcome. Statistically significant; lower mean serum albumin level [30.5 ± 3.3 versus 38.0 ± 6.9, t=2.571 (27), p= 0.016], higher proportion of not using RAS blocker [100.0% versus 11.5%, χ2 = 10.9 (2), p=0.004] and higher proportion of using immunosuppression at biopsy [36.4% versus 5.9%, χ2 =7.54 (2), p=0.023] were noted among these patients. At this preliminary point, none of the other clinical data was significant, thus no further multivariate analyses were performed. To compare the predicted and observed outcomes within the risk group, a cut-off point of 30% for the predicted risk was determined by calculating the Youden Index of a receiving operating curve plotted between the predicted outcome versus observed outcome at 5 years. Results showed well-separated curves between the two risk groups, indicating a good discriminant ability of the tool among our patients. Conclusions Our study demonstrated the median 5-year 1gAN-RPT risk score among our patients was 13.12% with 20.7% of them reaching the primary outcome. Moreover, a cut-off of 30% IgAN- RPT predicted score could discriminate between high-risk versus low-risk patients to develop ESRD or a 50% decline in eGFR in this population. No conflict of interes

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Background: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. We identify and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico prediction, unbiased in vivo analyses of the mutated genes in zebrafish, and expression analyses in zebrafish, mouse, and human. Results: We performed de novo mutation (DNM) screening on 24 HSCR trios. We identify 28 DNMs in 21 different genes. Eight of the DNMs we identified occur in RET, the main HSCR gene, and the remaining 20 DNMs reside in genes not reported in the ENS. Knockdown of all 12 genes with missense or loss-of-function DNMs showed that the orthologs of four genes (DENND3, NCLN, NUP98, and TBATA) are indispensable for ENS development in zebrafish, and these results were confirmed by CRISPR knockout. These genes are also expressed in human and mouse gut and/or ENS progenitors. Importantly, the encoded proteins are linked to neuronal processes shared by the central nervous system and the ENS. Conclusions: Our data open new fields of investigation into HSCR pathology and provide novel insights into the development of the ENS. Moreover, the study demonstrates that functional analyses of genes carrying DNMs are warranted to delineate the full genetic architecture of rare complex diseases

Comparative cellular analysis of motor cortex in human, marmoset and mouse

The primary motor cortex (M1) is essential for voluntary fine-motor control and is functionally conserved across mammals(1). Here, using high-throughput transcriptomic and epigenomic profiling of more than 450,000 single nuclei in humans, marmoset monkeys and mice, we demonstrate a broadly conserved cellular makeup of this region, with similarities that mirror evolutionary distance and are consistent between the transcriptome and epigenome. The core conserved molecular identities of neuronal and non-neuronal cell types allow us to generate a cross-species consensus classification of cell types, and to infer conserved properties of cell types across species. Despite the overall conservation, however, many species-dependent specializations are apparent, including differences in cell-type proportions, gene expression, DNA methylation and chromatin state. Few cell-type marker genes are conserved across species, revealing a short list of candidate genes and regulatory mechanisms that are responsible for conserved features of homologous cell types, such as the GABAergic chandelier cells. This consensus transcriptomic classification allows us to use patch-seq (a combination of whole-cell patch-clamp recordings, RNA sequencing and morphological characterization) to identify corticospinal Betz cells from layer 5 in non-human primates and humans, and to characterize their highly specialized physiology and anatomy. These findings highlight the robust molecular underpinnings of cell-type diversity in M1 across mammals, and point to the genes and regulatory pathways responsible for the functional identity of cell types and their species-specific adaptations.Cardiovascular Aspects of Radiolog

Whole-genome sequencing reveals host factors underlying critical COVID-19

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

Search for boosted diphoton resonances in the 10 to 70 GeV mass range using 138 fb−1 of 13 TeV pp collisions with the ATLAS detector

A search for diphoton resonances in the mass range between 10 and 70 GeV with the ATLAS experiment at the Large Hadron Collider (LHC) is presented. The analysis is based on pp collision data corresponding to an integrated luminosity of 138 fb−1 at a centre-of-mass energy of 13 TeV recorded from 2015 to 2018. Previous searches for diphoton resonances at the LHC have explored masses down to 65 GeV, finding no evidence of new particles. This search exploits the particular kinematics of events with pairs of closely spaced photons reconstructed in the detector, allowing examination of invariant masses down to 10 GeV. The presented strategy covers a region previously unexplored at hadron colliders because of the experimental challenges of recording low-energy photons and estimating the backgrounds. No significant excess is observed and the reported limits provide the strongest bound on promptly decaying axion-like particles coupling to gluons and photons for masses between 10 and 70 GeV

Evidence for the charge asymmetry in pp → tt¯ production at s√ = 13 TeV with the ATLAS detector

Inclusive and differential measurements of the top–antitop (tt¯) charge asymmetry Att¯C and the leptonic asymmetry Aℓℓ¯C are presented in proton–proton collisions at s√ = 13 TeV recorded by the ATLAS experiment at the CERN Large Hadron Collider. The measurement uses the complete Run 2 dataset, corresponding to an integrated luminosity of 139 fb−1, combines data in the single-lepton and dilepton channels, and employs reconstruction techniques adapted to both the resolved and boosted topologies. A Bayesian unfolding procedure is performed to correct for detector resolution and acceptance effects. The combined inclusive tt¯ charge asymmetry is measured to be Att¯C = 0.0068 ± 0.0015, which differs from zero by 4.7 standard deviations. Differential measurements are performed as a function of the invariant mass, transverse momentum and longitudinal boost of the tt¯ system. Both the inclusive and differential measurements are found to be compatible with the Standard Model predictions, at next-to-next-to-leading order in quantum chromodynamics perturbation theory with next-to-leading-order electroweak corrections. The measurements are interpreted in the framework of the Standard Model effective field theory, placing competitive bounds on several Wilson coefficients

Search for the Zγ decay mode of new high-mass resonances in pp collisions at √s = 13 TeV with the ATLAS detector

This letter presents a search for narrow, high-mass resonances in the Zγ final state with the Z boson decaying into a pair of electrons or muons. The √s = 13 TeV pp collision data were recorded by the ATLAS detector at the CERN Large Hadron Collider and have an integrated luminosity of 140 fb−1. The data are found to be in agreement with the Standard Model background expectation. Upper limits are set on the resonance production cross section times the decay branching ratio into Zγ. For spin-0 resonances produced via gluon–gluon fusion, the observed limits at 95% confidence level vary between 65.5 fb and 0.6 fb, while for spin-2 resonances produced via gluon–gluon fusion (or quark–antiquark initial states) limits vary between 77.4 (76.1) fb and 0.6 (0.5) fb, for the mass range from 220 GeV to 3400 GeV