The phylogenetically distinct early human embryo

The phylogenetic singularity of the human embryo remains unresolved as cell types of the human blastocyst have resisted classification. Combining clustering of single cellular transcriptomes and dynamically expressed genes we resolve the cell types. This unveils the missing inner cell mass (ICM) and reveals classical step-wise development. Conversely, numerous features render our blastocyst phylogenetically distinct: unlike mice, our epiblast is self-renewing and we have blastocyst non-committed cells (NCCs), part of an apoptosis-mediated quality control/purging process. At the transcriptome-level all primate embryos are distinct as the pluripotent cell types are uniquely fast evolving. A substantial fraction of gene expression gain and loss events between human and new-world monkeys involve endogenous retrovirus H (ERVH). Human pluripotent cells are unique in which (H)ERVH's are active, the extent to which these modulate neighbour gene expression and their ability to suppress mutagenic transposable elements. Current naive cultures are heterogeneous and both developmentally and phylogenetically "confused"

Correlation inequalities for classical and quantum XY models

We review correlation inequalities of truncated functions for the classical and quantum XY models. A consequence is that the critical temperature of the XY model is necessarily smaller than that of the Ising model, in both the classical and quantum cases. We also discuss an explicit lower bound on the critical temperature of the quantum XY model.Comment: 13 pages. Submitted to the volume "Advances in Quantum Mechanics: contemporary trends and open problems" of the INdAM-Springer series, proceedings of the INdAM meeting "Contemporary Trends in the Mathematics of Quantum Mechanics" (4-8 July 2016) organised by G. Dell'Antonio and A. Michelangel

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the majority of cases. Here, we describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8. The mutant alleles comprise one nonsense, three missense, and two splice-site mutations; we demonstrate in zebrafish that, in contrast to the wild-type protein, the proteins containing all three missense alterations provide only weak rescue of an early gastrulation phenotype induced by Megf8 knockdown. We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. We did not observe any subject with biallelic loss-of function mutations, suggesting that some residual MEGF8 function might be necessary for survival and might influence the phenotypes observed

Fragmentation in Peripheral Heavy-Ion Collisions: from Neck Emission to Spectator Decays

Invariant cross sections of intermediate mass fragments in peripheral collisions of Au on Au at incident energies between 40 and 150 AMeV have been measured with the 4-pi multi-detector INDRA. The maximum of the fragment production is located near mid-rapidity at the lower energies and moves gradually towards the projectile and target rapidities as the energy is increased. Schematic calculations within an extended Goldhaber model suggest that the observed cross-section distributions and their evolution with energy are predominantly the result of the clustering requirement for the emerging fragments and of their Coulomb repulsion from the projectile and target residues. The quantitative comparison with transverse energy spectra and fragment charge distributions emphasizes the role of hard scattered nucleons in the fragmentation process.Comment: 5 pages, 5 eps figures, RevTeX4, submitted to Phys. Lett.

Study of intermediate velocity products in the Ar+Ni collisions between 52 and 95 A.MeV

Intermediate velocity products in Ar+Ni collisions from 52 to 95 A.MeV are studied in an experiment performed at the GANIL facility with the 4$\pi$ multidetector INDRA. It is shown that these emissions cannot be explained by statistical decays of the quasi-projectile and the quasi-target in complete equilibrium. Three methods are used to isolate and characterize intermediate velocity products. The total mass of these products increases with the violence of the collision and reaches a large fraction of the system mass in mid-central collisions. This mass is found independent of the incident energy, but strongly dependent on the geometry of the collision. Finally it is shown that the kinematical characteristics of intermediate velocity products are weakly dependent on the experimental impact parameter, but strongly dependent on the incident energy. The observed trends are consistent with a participant-spectator like scenario or with neck emissions and/or break-up.Comment: 37 pages, 13 figure

Statistical Multifragmentation of Non-Spherical Expanding Sources in Central Heavy-Ion Collisions

We study the anisotropy effects measured with INDRA at GSI in central collisions of Xe+Sn at 50 A.MeV and Au+Au at 60, 80, 100 A.MeV incident energy. The microcanonical multifragmentation model with non-spherical sources is used to simulate an incomplete shape relaxation of the multifragmenting system. This model is employed to interpret observed anisotropic distributions in the fragment size and mean kinetic energy. The data can be well reproduced if an expanding prolate source aligned along the beam direction is assumed. An either non-Hubblean or non-isotropic radial expansion is required to describe the fragment kinetic energies and their anisotropy. The qualitative similarity of the results for the studied reactions suggests that the concept of a longitudinally elongated freeze-out configuration is generally applicable for central collisions of heavy systems. The deformation decreases slightly with increasing beam energy.Comment: 35 pages, 19 figures, submitted to Nuclear Physics

Executive summary of the KDIGO 2022 Clinical Practice Guideline for Diabetes Management in Chronic Kidney Disease:an update based on rapidly emerging new evidence

The Kidney Disease: Improving Global Outcomes (KDIGO) 2022 Clinical Practice Guideline for Diabetes Management in Chronic Kidney Disease (CKD) represents a focused update of the KDIGO 2020 guideline on the topic. The guideline targets a broad audience of clinicians treating people with diabetes and CKD. Topic areas for which recommendations are updated based on new evidence include Chapter 1: Comprehensive care in patients with diabetes and CKD and Chapter 4: Glucose-lowering therapies in patients with type 2 diabetes (T2D) and CKD. The content of previous chapters on Glycemic monitoring and targets in patients with diabetes and CKD (Chapter 2), Lifestyle interventions in patients with diabetes and CKD (Chapter 3), and Approaches to management of patients with diabetes and CKD (Chapter 5) has been deemed current and was not changed. This guideline update was developed according to an explicit process of evidence review and appraisal. Treatment approaches and guideline recommendations are based on systematic reviews of relevant studies and appraisal of the quality of the evidence, and the strength of recommendations followed the “Grading of Recommendations Assessment, Development and Evaluation” (GRADE) approach. Limitations of the evidence are discussed, and areas for which additional research is needed are presented

Search for displaced vertices arising from decays of new heavy particles in 7 TeV pp collisions at ATLAS

We present the results of a search for new, heavy particles that decay at a significant distance from their production point into a final state containing charged hadrons in association with a high-momentum muon. The search is conducted in a pp-collision data sample with a center-of-mass energy of 7 TeV and an integrated luminosity of 33 pb^-1 collected in 2010 by the ATLAS detector operating at the Large Hadron Collider. Production of such particles is expected in various scenarios of physics beyond the standard model. We observe no signal and place limits on the production cross-section of supersymmetric particles in an R-parity-violating scenario as a function of the neutralino lifetime. Limits are presented for different squark and neutralino masses, enabling extension of the limits to a variety of other models.Comment: 8 pages plus author list (20 pages total), 8 figures, 1 table, final version to appear in Physics Letters

Measurement of the polarisation of W bosons produced with large transverse momentum in pp collisions at sqrt(s) = 7 TeV with the ATLAS experiment

This paper describes an analysis of the angular distribution of W->enu and W->munu decays, using data from pp collisions at sqrt(s) = 7 TeV recorded with the ATLAS detector at the LHC in 2010, corresponding to an integrated luminosity of about 35 pb^-1. Using the decay lepton transverse momentum and the missing transverse energy, the W decay angular distribution projected onto the transverse plane is obtained and analysed in terms of helicity fractions f0, fL and fR over two ranges of W transverse momentum (ptw): 35 < ptw < 50 GeV and ptw > 50 GeV. Good agreement is found with theoretical predictions. For ptw > 50 GeV, the values of f0 and fL-fR, averaged over charge and lepton flavour, are measured to be : f0 = 0.127 +/- 0.030 +/- 0.108 and fL-fR = 0.252 +/- 0.017 +/- 0.030, where the first uncertainties are statistical, and the second include all systematic effects.Comment: 19 pages plus author list (34 pages total), 9 figures, 11 tables, revised author list, matches European Journal of Physics C versio