Orbital order in bilayer graphene at filling factor ν=−1\nu =-1

In a graphene bilayer with Bernal stacking both $n=0$ and $n=1$ orbital Landau levels have zero kinetic energy. An electronic state in the N=0 Landau level consequently has three quantum numbers in addition to its guiding center label: its spin, its valley index $K$ or $K^{\prime}$, and an orbital quantum number $n=0,1.$ The two-dimensional electron gas (2DEG) in the bilayer supports a wide variety of broken-symmetry states in which the pseudospins associated these three quantum numbers order in a manner that is dependent on both filling factor $\nu$ and the electric potential difference between the layers. In this paper, we study the case of $\nu =-1$ in an external field strong enough to freeze electronic spins. We show that an electric potential difference between layers drives a series of transitions, starting from interlayer-coherent states (ICS) at small potentials and leading to orbitally coherent states (OCS) that are polarized in a single layer. Orbital pseudospins carry electric dipoles with orientations that are ordered in the OCS and have Dzyaloshinskii-Moriya interactions that can lead to spiral instabilities. We show that the microwave absorption spectra of ICSs, OCSs, and the mixed states that occur at intermediate potentials are sharply distinct.Comment: 21 pages, 14 figure

Ferro-aimants de Hall dans la bicouche de graphène

Dans cette thèse nous allons présenter nos résultats sur les différentes solutions pour le gaz d'électrons dans une bicouche de graphène sous fort champ magnétique en fonction de la différence de potentiel entre les deux couches et du facteur de remplissage entier de v = -3 à v = 3. Nos résultats seront comparés aux résultats expérimentaux pour expliquer, entre autres, l'apparition de sous plateau dans la conductivité pour les états de N = O. Nos états fondamentaux furent calculés à partir de l'approximation Hartree-Fock pour prendre en compte l'interaction coulombienne. Nous avons obtenu différentes solutions que l'on peut classifier comme les phases cohérentes : inter-couche simple, inter-couche double, inter-spin simple, inter-spin double et orbitale. Le reste des solutions que nous avons trouvées sont des phases sans cohérence. Ces phases peuvent être décrites comme des ferro-aimants de pseudo-spin de Hall. Pour chacune de ces phases, nous avons calculé les modes collectifs et l'absorption électromagnétique à l'aide de la théorie "Generalized Random-Phase Approximation" (GRPA) et le gap d'excitation du système. Nous avons porté une attention particulière aux modes collectifs dans la phase orbitale qui montrent une instabilité et à montrer que cette instabilité peut être décrite par une interaction de type Dzyaloshinskii-Moriya (DM) dans un hamiltonien effectif de spin pour décrire les modes collectifs. Nous avons aussi calculé des effets magnéto-électriques en calculant le changement de polarisation de spin qui se produit en appliquant un champ électrique dans le plan des couches aux facteurs de remplissage v = ±1, ±2

Quasi-hole solutions in finite noncommutative Maxwell-Chern-Simons theory

We study Maxwell-Chern-Simons theory in 2 noncommutative spatial dimensions and 1 temporal dimension. We consider a finite matrix model obtained by adding a linear boundary field which takes into account boundary fluctuations. The pure Chern-Simons has been previously shown to be equivalent to the Laughlin description of the quantum Hall effect. With the addition of the Maxwell term, we find that there exists a rich spectrum of excitations including solitons with nontrivial "magnetic flux" and quasi-holes with nontrivial "charges", which we describe in this article. The magnetic flux corresponds to vorticity in the fluid fluctuations while the charges correspond to sources of fluid fluctuations. We find that the quasi-hole solutions exhibit a gap in the spectrum of allowed charge.Comment: 19+1 pages, 12 figures, colour graphics required, version publishe

HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom

This consensus statement addresses the current three main modalities of treatment of homozygous familial hypercholesterolaemia (HoFH): pharmacotherapy, lipoprotein (Lp) apheresis and liver transplantation. HoFH may cause very premature atheromatous arterial disease and death, despite treatment with Lp apheresis combined with statin, ezetimibe and bile acid sequestrants. Two new classes of drug, effective in lowering cholesterol in HoFH, are now licensed in the United Kingdom. Lomitapide is restricted to use in HoFH but, may cause fatty liver and is very expensive. PCSK9 inhibitors are quite effective in receptor defective HoFH, are safe and are less expensive. Lower treatment targets for lipid lowering in HoFH, in line with those for the general FH population, have been proposed to improve cardiovascular outcomes. HEART UK presents a strategy combining Lp apheresis with pharmacological treatment to achieve these targets in the United Kingdom (UK). Improved provision of Lp apheresis by use of existing infrastructure for extracorporeal treatments such as renal dialysis is promoted. The clinical management of adults and children with HoFH including advice on pregnancy and contraception are addressed. A premise of the HEART UK strategy is that the risk of early use of drug treatments beyond their licensed age restriction may be balanced against risks of liver transplantation or ineffective treatment in severely affected patients. This may be of interest beyond the UK

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. METHODS: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource-Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. RESULTS: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (Kco; 33% [interquartile range, 30%-35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23-38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. CONCLUSIONS: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low Kco and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Factors Associated with Revision Surgery after Internal Fixation of Hip Fractures

Background: Femoral neck fractures are associated with high rates of revision surgery after management with internal fixation. Using data from the Fixation using Alternative Implants for the Treatment of Hip fractures (FAITH) trial evaluating methods of internal fixation in patients with femoral neck fractures, we investigated associations between baseline and surgical factors and the need for revision surgery to promote healing, relieve pain, treat infection or improve function over 24 months postsurgery. Additionally, we investigated factors associated with (1) hardware removal and (2) implant exchange from cancellous screws (CS) or sliding hip screw (SHS) to total hip arthroplasty, hemiarthroplasty, or another internal fixation device. Methods: We identified 15 potential factors a priori that may be associated with revision surgery, 7 with hardware removal, and 14 with implant exchange. We used multivariable Cox proportional hazards analyses in our investigation. Results: Factors associated with increased risk of revision surgery included: female sex, [hazard ratio (HR) 1.79, 95% confidence interval (CI) 1.25-2.50; P = 0.001], higher body mass index (fo

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts