Further genetic heterogeneity for autosomal dominant human sutural cataracts

A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent reason for isolated congenital cataracts, all 4 active CRYG genes have been sequenced. A single base-pair change in the CRYGA gene has been shown, leading to a premature stop codon. This was not observed in 170 control individuals. However, it did not segregate with the disease phenotype. This is the first truncating mutation in an active CRYG gene without a dominant phenotype. As the CRYGA mutation did not explain the cataract, several other candidate loci (CCV, GJA8, CRYBB2, BFSP2, MIP, GJA8, central pouch-like, CRYBA1) were investigated by micro-satellite markers and linkage analysis, but they were excluded based on the combination of haplotype analysis and two-point linkage analysis. The phenotype in this family is due to a mutation in another sutural cataract gene yet to be identified

Born-Infeld Type Extension of (Non-)Critical Gravity

We consider the Born-Infeld type extension of (non-)critical gravity which is higher curvature gravity on Anti de-Sitter space with specific combinations of scalar curvature and Ricci tensor. This theory may also be viewed as a natural extension of three-dimensional Born-Infeld new massive gravity to arbitrary dimensions. We show that this extension is consistent with holographic $c$-theorem and scalar graviton modes are absent in this theory. After showing that ghost modes in the theory can be truncated consistently by appropriate boundary conditions, we argue that the theory is classically equivalent to Einstein gravity at the non-linear level. Black hole solutions are discussed in the view point of the full non-linear classical equivalence between the theory and Einstein gravity. Holographic entanglement entropy in the theory is also briefly commented on.Comment: 1+13 pages, improvements in presentation, references added, accepted to PR

Roles of dark energy perturbations in the dynamical dark energy models: Can we ignore them?

We show the importance of properly including the perturbations of the dark energy component in the dynamical dark energy models based on a scalar field and modified gravity theories in order to meet with present and future observational precisions. Based on a simple scaling scalar field dark energy model, we show that observationally distinguishable substantial differences appear by ignoring the dark energy perturbation. By ignoring it the perturbed system of equations becomes inconsistent and deviations in (gauge-invariant) power spectra depend on the gauge choice.Comment: 5 pages, 4 figure

The Shape of LITTLE THINGS Dwarf Galaxies DDO 46 and DDO 168: Understanding the stellar and gas kinematics

We present the stellar and gas kinematics of DDO 46 and DDO 168 from the LITTLE THINGS survey and determine their respective Vmax/sigma_z,0 values. We used the KPNO's 4-meter telescope with the Echelle spectrograph as a long-slit spectrograph. We acquired spectra of DDO 168 along four position angles by placing the slit over the morphological major and minor axes and two intermediate position angles. However, due to poor weather conditions during our observing run for DDO 46, we were able to extract only one useful data point from the morphological major axis. We determined a central stellar velocity dispersion perpendicular to the disk, sigma_z,0, of 13.5+/-8 km/s for DDO 46 and of 10.7+/-2.9 km/s for DDO 168. We then derived the maximum rotation speed in both galaxies using the LITTLE THINGS HI data. We separated bulk motions from non-circular motions using a double Gaussian decomposition technique and applied a tilted-ring model to the bulk velocity field. We corrected the observed HI rotation speeds for asymmetric drift and found a maximum velocity, Vmax, of 77.4 +/- 3.7 and 67.4 +/- 4.0 km/s for DDO 46 and DDO 168, respectively. Thus, we derived a kinematic measure, Vmax/sigma_z,0, of 5.7 +/- 0.6 for DDO 46 and 6.3 +/- 0.3 for DDO 168. Comparing these values to ones determined for spiral galaxies, we find that DDO 46 and DDO 168 have Vmax/sigma_z,0 values indicative of thin disks, which is in contrast to minor-to-major axis ratio studies

Staphylococcal enterotoxin sensitization in a community-based population : a potential role in adult-onset asthma

Background: Recent studies suggest that Staphylococcus aureus enterotoxin sensitization is a risk factor for asthma. However, there is a paucity of epidemiologic evidence on adult-onset asthma in community-based populations. Objective: We sought to evaluate the epidemiology and the clinical significance of staphylococcal enterotoxin sensitization in community-based adult populations. Methods: The present analyses were performed using the baseline data set of Korean adult population surveys, consisting of 1080 adults (mean age=60.2years) recruited from an urban and a rural community. Questionnaires, methacholine challenge tests, and allergen skin tests were performed for defining clinical phenotypes. Sera were analysed for total IgE and enterotoxin-specific IgE using ImmunoCAP. Results: Staphylococcal enterotoxin sensitization (0.35kU/L) had a prevalence of 27.0%. Risk factors were identified as male sex, current smoking, advanced age (61years), and inhalant allergen sensitization. Current asthma was mostly adult onset (18years old) and showed independent associations with high enterotoxin-specific IgE levels in multivariate logistic regression tests. In multivariate linear regressions, staphylococcal enterotoxin-specific IgE level was identified as the major determinant factor for total IgE level. Conclusions and Clinical Relevance: Staphylococcal enterotoxin sensitization was independently associated with adult-onset asthma in adult community populations. Strong correlations between the enterotoxin-specific IgE and total IgE levels support the clinical significance. The present findings warrant further studies for the precise roles of staphylococcal enterotoxin sensitization in the asthma pathogenesis

Evidence for the Coexistence of Anisotropic Superconducting Gap and Nonlocal Effects in the Non-magnetic Superconductor LuNi2B2C

A study of the dependence of the heat capacity Cp(alpha) on field angle in LuNi2B2C reveals an anomalous disorder effect. For pure samples, Cp(alpha) exhibits a fourfold variation as the field H < Hc2 is rotated in the [001] plane, with minima along (alpha = 0). A slightly disordered sample, however, develops anomalous secondary minima along for H > 1 T, leading to an 8-fold pattern. The anomalous pattern is discussed in terms of coexisting superconducting gap anisotropy and non-local effects.Comment: 5 pages, 4 figure