Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes

Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm birth with ~ 40% of preterm births being associated with PPROM and occurs in 1% - 2% of all pregnancies. We hypothesized that multiple rare variants in fetal genes involved in extracellular matrix synthesis would associate with PPROM, based on the assumption that impaired elaboration of matrix proteins would reduce fetal membrane tensile strength, predisposing to unscheduled rupture. We performed whole exome sequencing (WES) on neonatal DNA derived from pregnancies complicated by PPROM (49 cases) and healthy term deliveries (20 controls) to identify candidate mutations/variants. Genotyping for selected variants from the WES study was carried out on an additional 188 PPROM cases and 175 controls. All mothers were self-reported African Americans, and a panel of ancestry informative markers was used to control for genetic ancestry in all genetic association tests. In support of the primary hypothesis, a statistically significant genetic burden (all samples combined, SKAT-O p-value = 0.0225) of damaging/potentially damaging rare variants was identified in the genes of interest—fibrillar collagen genes, which contribute to fetal membrane strength and integrity. These findings suggest that the fetal contribution to PPROM is polygenic, and driven by an increased burden of rare variants that may also contribute to the disparities in rates of preterm birth among African Americans

Bias in the journal impact factor

The ISI journal impact factor (JIF) is based on a sample that may represent half the whole-of-life citations to some journals, but a small fraction (<10%) of the citations accruing to other journals. This disproportionate sampling means that the JIF provides a misleading indication of the true impact of journals, biased in favour of journals that have a rapid rather than a prolonged impact. Many journals exhibit a consistent pattern of citation accrual from year to year, so it may be possible to adjust the JIF to provide a more reliable indication of a journal's impact.Comment: 9 pages, 8 figures; one reference correcte

Endothelial preconditioning by transient oxidative stress reduces inflammatory responses of cultured endothelial cells to TNF-α

Brief episodes of ischemia can render an organ resistant to subsequent severe ischemia. This ‘ischemic preconditioning’ is ascribed to various mechanisms, including oxidative stress. We investigated whether preconditioning exists on an endothelial level. Human umbilical vein endothelial cells (HUVECs) were transiently confronted with oxidative stress (1 mM H2O2, 5 min). Adhesion molecules ICAM-1 and E-selectin and release of cytokines IL-6 and IL-8 to subsequent stimulation with TNF-α (2.5 ng/ml, 4 h) were measured (flow cytometry and immunoassay), as were nuclear translocation of the transcription factor NFkB (Western blotting, confocal microscopy) and redox status of HUVECs (quantification of glutathione by HPLC). TNF-α elevated IL-6 in the cell supernatant from 8.8 ± 1 to 41 ± 3 pg/ml and IL-8 from 0.5 ± 0.03 to 3 ± 0.2 ng/ml. ICAM-1 was increased threefold and E-selectin rose eightfold. Oxidative stress (decrease of glutathione by 50%) reduced post-TNF-α levels of IL-6 to 14 ± 3 and IL-8 to 1 ± 0.2; the rise of ICAM-1 was completely blocked and E-selectin was only doubled. The anti-inflammatory effects of preconditioning via oxidative stress were paralleled by reduction of the translocation of NFkB on stimulation with TNF-α, and antagonized by the intracellular radical scavenger N-acetylcysteine. ‘Anti-inflammatory preconditioning’ of endothelial cells by oxidative stress may account for the inhibitory effects of preconditioning on leukocyte adhesion in vivo

First-Principles Electronic Structure of Solid Picene

To explore the electronic structure of the first aromatic superconductor, potassium-doped solid picene which has been recently discovered by Mitsuhashi et al with the transition temperatures $T_c=7 - 20$ K, we have obtained a first-principles electronic structure of solid picene as a first step toward the elucidation of the mechanism of the superconductivity. The undoped crystal is found to have four conduction bands, which are characterized in terms of the maximally localized Wannier orbitals. We have revealed how the band structure reflects the stacked arrangement of molecular orbitals for both undoped and doped (K$_3$picene) cases, where the bands are not rigid. The Fermi surface for K$_3$picene is a curious composite of a warped two-dimensional surface and a three-dimensional one.Comment: 5 pages, 4 figure

Valid and reliable assessment of wellness among adolescents: Do you know what you’re measuring?

Measuring wellness among adolescents is an emerging trend among professionals and researchers endeavouring to influence youth as they establish lifestyle patterns in this critical period of life. This discussion highlights instruments used to measure adolescents’ wellness, and considers the empirical data supporting the validity and reliability of those instruments. In summary, adolescents’ wellness is an important indicator of future health and lifestyle habits. There are a number of tools available to measure wellness, each with its own focus, depending on the definition or model from which it was developed. This might cause debate regarding the appropriateness of some instruments for evaluating wellness. The majority of wellness evaluation approaches used with adolescent populations have less than ideal validation. A ‘gold standard’ definition could lead to the standardisation of a theoretical model against which wellness instruments could be validated. The absence of peer-reviewed studies reporting psychometric testing for wellness evaluation instruments used with adolescents is of concern given their growing popularity and highlights a priority area for future research in this field

Complete RXTE Spectral Observations of the Black Hole X-ray Nova XTE J1550-564

We report on the X-ray spectral behavior of the exceptionally bright X-ray nova XTE J1550-564 during its 1998-99 outburst. Our study is based on 209 pointed observations using the PCA and HEXTE instruments onboard the Rossi X-ray Timing Explorer spanning 250 days and covering the entire double-peaked eruption that occurred from 1998 September until 1999 May. The spectra are fit to a model including multicolor blackbody disk and power-law components. The source is observed in the very high and high/soft outburst states of black hole X-ray novae. During the very high state, when the power-law component dominated the spectrum, the inner disk radius is observed to vary by more than an order of magnitude; the radius decreased by a factor of 16 in one day during a 6.8 Crab flare. If the larger of these observed radii is taken to be the last stable orbit, then the smaller observed radius would imply that the inner edge of the disk is inside the event horizon! However, we conclude that the apparent variations of the inner disk radius observed during periods of increased power-law emission are probably caused by the failure of the multicolor disk/power-law model; the actual physical radius of the inner disk may remain fairly constant. This interpretation is supported by the fact that the observed inner disk radius remains approximately constant over 120 days in the high state, when the power-law component is weak, even though the disk flux and total flux vary by an order of magnitude. The mass of the black hole inferred by equating the approximately constant inner disk radius observed in the high/soft state with the last stable orbit for a Schwarzschild black hole is M_BH = 7.4 M_sun (D/6 kpc) (cos i)^{-1/2}.Comment: Submitted to ApJ, 20 pages including 6 figures + 4 large table

Supersymmetric AdS_3, AdS_2 and Bubble Solutions

We present new supersymmetric AdS_3 solutions of type IIB supergravity and AdS_2 solutions of D=11 supergravity. The former are dual to conformal field theories in two dimensions with N=(0,2) supersymmetry while the latter are dual to conformal quantum mechanics with two supercharges. Our construction also includes AdS_2 solutions of D=11 supergravity that have non-compact internal spaces which are dual to three-dimensional N=2 superconformal field theories coupled to point-like defects. We also present some new bubble-type solutions, corresponding to BPS states in conformal theories, that preserve four supersymmetries.Comment: v2: 33 pages, published version in JHE

Unscreened Coulomb repulsion in the one dimensional electron gas

A tight binding model of electrons interacting via bare Coulomb repulsion is numerically investigated by use of the Density Matrix Renormalization Group method which we prove applicable also to very long range potentials. From the analysis of the elementary excitations, of the spin and charge correlation functions and of the momentum distribution, a picture consistent with the formation of a one dimensional "Wigner crystal" emerges, in quantitative agreement with a previous bosonization study. At finite doping, Umklapp scattering is shown to be ineffective in the presence of long range forces.Comment: RevTex, 5 pages with 8 eps figures. To be published on Phys. Rev.

Coexistent State of Charge Density Wave and Spin Density Wave in One-Dimensional Quarter Filled Band Systems under Magnetic Fields

We theoretically study how the coexistent state of the charge density wave and the spin density wave in the one-dimensional quarter filled band is enhanced by magnetic fields. We found that when the correlation between electrons is strong the spin density wave state is suppressed under high magnetic fields, whereas the charge density wave state still remains. This will be observed in experiments such as the X-ray measurement.Comment: 7 pages, 15 figure