An Integrated Meta-Analysis of Two Variants in HOXA1/HOXB1 and Their Effect on the Risk of Autism Spectrum Disorders

BACKGROUND: HOXA1 and HOXB1 have been strongly posed as candidate genes for autism spectrum disorders (ASD) given their important role in the development of hindbrain. The A218G (rs10951154) in HOXA1 and the insertion variant in HOXB1 (nINS/INS, rs72338773) were of special interest for ASD but with inconclusive results. Thus, we conducted a meta-analysis integrating case-control and transmission/disequilibrium test (TDT) studies to clearly discern the effect of these two variants in ASD. METHODS AND FINDINGS: Multiple electronic databases were searched to identify studies assessing the A218G and/or nINS/INS variant in ASD. Data from case-control and TDT studies were analyzed in an allelic model using the Catmap software. A total of 10 and 7 reports were found to be eligible for meta-analyses of A218G and nINS/INS variant, respectively. In overall meta-analysis, the pooled OR for the 218G allele and the INS allele was 0.97 (95% CI = 0.76-1.25, P(heterogeneity) = 0.029) and 1.14 (95% CI = 0.97-1.33, P(heterogeneity) = 0.269), respectively. No significant association was also identified between these two variants and ASD risk in stratified analysis. Further, cumulative meta-analysis in chronologic order showed the inclination toward null-significant association for both variants with continual adding studies. Additionally, although the between-study heterogeneity regarding the A218G is not explained by study design, ethnicity, and sample size, the sensitive analysis indicated the stability of the result. CONCLUSIONS: This meta-analysis suggests the HOXA1 A218G and HOXB1 nINS/INS variants may not contribute significantly to ASD risk

Search for rare quark-annihilation decays, B --> Ds(*) Phi

We report on searches for B- --> Ds- Phi and B- --> Ds*- Phi. In the context of the Standard Model, these decays are expected to be highly suppressed since they proceed through annihilation of the b and u-bar quarks in the B- meson. Our results are based on 234 million Upsilon(4S) --> B Bbar decays collected with the BABAR detector at SLAC. We find no evidence for these decays, and we set Bayesian 90% confidence level upper limits on the branching fractions BF(B- --> Ds- Phi) Ds*- Phi)<1.2x10^(-5). These results are consistent with Standard Model expectations.Comment: 8 pages, 3 postscript figues, submitted to Phys. Rev. D (Rapid Communications

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

Autism is characterized by a broad spectrum of clinical manifestations including qualitative impairments in social interactions and communication, and repetitive and stereotyped patterns of behavior. Abnormal acceleration of brain growth in early childhood, signs of slower growth of neurons, and minicolumn developmental abnormalities suggest multiregional alterations. The aim of this study was to detect the patterns of focal qualitative developmental defects and to identify brain regions that are prone to developmental alterations in autism. Formalin-fixed brain hemispheres of 13 autistic (4–60 years of age) and 14 age-matched control subjects were embedded in celloidin and cut into 200-μm-thick coronal sections, which were stained with cresyl violet and used for neuropathological evaluation. Thickening of the subependymal cell layer in two brains and subependymal nodular dysplasia in one brain is indicative of active neurogenesis in two autistic children. Subcortical, periventricular, hippocampal and cerebellar heterotopias detected in the brains of four autistic subjects (31%) reflect abnormal neuronal migration. Multifocal cerebral dysplasia resulted in local distortion of the cytoarchitecture of the neocortex in four brains (31%), of the entorhinal cortex in two brains (15%), of the cornu Ammonis in four brains and of the dentate gyrus in two brains. Cerebellar flocculonodular dysplasia detected in six subjects (46%), focal dysplasia in the vermis in one case, and hypoplasia in one subject indicate local failure of cerebellar development in 62% of autistic subjects. Detection of flocculonodular dysplasia in only one control subject and of a broad spectrum of focal qualitative neuropathological developmental changes in 12 of 13 examined brains of autistic subjects (92%) reflects multiregional dysregulation of neurogenesis, neuronal migration and maturation in autism, which may contribute to the heterogeneity of the clinical phenotype

A Precision Measurement of the Lambda_c Baryon Mass

The $\Lambda_c^+$ baryon mass is measured using $\Lambda_c^+\to\Lambda K^0_S K^+$ and $\Lambda_c^+\to\Sigma^0 K^0_S K^+$ decays reconstructed in 232 fb$^{-1}$ of data collected with the BaBar detector at the PEP-II asymmetric-energy $e^+e^-$ storage ring. The $\Lambda_c^+$ mass is measured to be $2286.46\pm0.14\mathrm{MeV}/c^2$. The dominant systematic uncertainties arise from the amount of material in the tracking volume and from the magnetic field strength.Comment: 14 pages, 8 postscript figures, submitted to Phys. Rev.

All-sky search for gravitational-wave bursts in the second joint LIGO-Virgo run

We present results from a search for gravitational-wave bursts in the data collected by the LIGO and Virgo detectors between July 7, 2009 and October 20, 2010: data are analyzed when at least two of the three LIGO-Virgo detectors are in coincident operation, with a total observation time of 207 days. The analysis searches for transients of duration < 1 s over the frequency band 64-5000 Hz, without other assumptions on the signal waveform, polarization, direction or occurrence time. All identified events are consistent with the expected accidental background. We set frequentist upper limits on the rate of gravitational-wave bursts by combining this search with the previous LIGO-Virgo search on the data collected between November 2005 and October 2007. The upper limit on the rate of strong gravitational-wave bursts at the Earth is 1.3 events per year at 90% confidence. We also present upper limits on source rate density per year and Mpc^3 for sample populations of standard-candle sources. As in the previous joint run, typical sensitivities of the search in terms of the root-sum-squared strain amplitude for these waveforms lie in the range 5 10^-22 Hz^-1/2 to 1 10^-20 Hz^-1/2. The combination of the two joint runs entails the most sensitive all-sky search for generic gravitational-wave bursts and synthesizes the results achieved by the initial generation of interferometric detectors.Comment: 15 pages, 7 figures: data for plots and archived public version at https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=70814&version=19, see also the public announcement at http://www.ligo.org/science/Publication-S6BurstAllSky

Measurement of the branching fraction ratios and CP asymmetries in B-→ D0 CP K-decays

We present a preliminary study of $B^- \to D^0_{CP} \pi^-$ and $B^- \to D^0_{CP} K^-$ decays, with the $D^0_{CP}$ reconstructed in the CP-odd eigenstates $K_s \pi^0$, $K_s \omega$, in the CP-even eigenstates $K^+ K^-$, $\pi^+ \pi^-$, and in the (non-CP) flavor eigenstate $K^\mp \pi^\pm$. Using a sample of about 382 million Y(4S) decays into BBbar pairs, collected with the BABAR detector operating at the PEP-II asymmetric-energy B Factory at SLAC, we measure the ratios of the branching fractions R_CP+- and the direct CP asymmetries A_CP+-. The results are: R_CP- = 0.81 \pm 0.10 (stat) \pm 0.05 (syst) R_CP+ = 1.07 \pm 0.10 (stat) \pm 0.04 (syst) A_CP- = -0.19 \pm 0.12 (stat) \pm 0.02 (syst) A_CP+ = 0.35 \pm 0.09 (stat) \pm 0.05 (syst

Determinations of vertical bar V-ub vertical bar from inclusive semileptonic B decays with reduced model dependence

We report two novel determinations of vertical bar V-ub vertical bar with reduced model dependence, based on measurements of the mass distribution of the hadronic system in semileptonic B decays. Events are selected by fully reconstructing the decay of one B meson and identifying a charged lepton from the decay of the other B meson from Y(4S) -> B (B) over bar events. In one approach, we combine the inclusive (B) over bar -> X(u)l (v) over bar rate, integrated up to a maximum hadronic mass m(X) X-s gamma photon energy spectrum. We obtain vertical bar V-ub vertical bar = (4.43 +/- 0.38(stat) +/- 0.25(syst) +/- 0.29(theo)) x 10(-3). In another approach we measure the total (B) over bar -> X(u)l (v) over bar rate over the full phase space and find vertical bar V-ub vertical bar = 3.84 +/- 0.70(stat) +/- 0.30(syst) +/- 0.10(theo)) x 10(-3)

Observation of a Charmed Baryon Decaying to D0p at a Mass Near 2.94 GeV/c2

A search for charmed baryons decaying to D 0 p reveals two states: the Λ c ( 2880 ) + baryon and a previously unobserved state at a mass of [ 2939.8 ± 1.3 ( stat ) ± 1.0 ( syst ) ]     MeV / c 2 and with an intrinsic width of [ 17.5 ± 5.2 ( stat ) ± 5.9 ( syst ) ]     MeV . Consistent and significant signals are observed for the K − π + and K − π + π − π + decay modes of the D 0 in 287     fb − 1 annihilation data recorded by the BABAR detector at a center-of-mass energy of 10.58 GeV. There is no evidence in the D + p spectrum of doubly charged partners. The mass and intrinsic width of the Λ c ( 2880 ) + baryon and relative yield of the two baryons are also measured

Measurement of branching fractions and resonance contributions for B-0 ->(D)over-bar(0)K(+)pi(-) and search for B-0 ->(DK+)-K-0 pi(-) decays

Using 226x10(6) Upsilon(4S)-> B (B) over bar events collected with the BABAR detector at the PEP-II e(+)e(-) storage ring at the Stanford Linear Accelerator Center, we measure the branching fraction for B-0->(D) over bar (0)K(+)pi(-), excluding B-0-> D*-K+, to be B(B-0->(0)K(+)pi(-))=(88 +/- 15 +/- 9)x10(-6). We observe B-0->(D) over bar K-0(*)(892)(0) and B-0-> D-2(*)(2460)K--(+) contributions. The ratio of branching fractions B(B-0-> D*-K+)/B(B-0-> D(*-)pi(+))=(7.76 +/- 0.34 +/- 0.29)% is measured separately. The branching fraction for the suppressed mode B-0-> D(0)K(+)pi(-) is B(B-0-> D(0)K(+)pi(-))< 19x10(-6) at the 90% confidence level

Measurements of CP-violating asymmetries in B-0 -> a(1)(+/-)(1260)pi(-/+) decays

We present measurements of CP-violating asymmetries in the decay B-0 -> a(1)(+/-)(1260)pi(-/+) with a(1)(+/-)(1260)->pi(-/+)pi(+/-)pi(+/-). The data sample corresponds to 384x10(6) B(b) over bar pairs collected with the BABAR detector at the PEP-II asymmetric B factory at SLAC. We measure the CP-violating asymmetry A(CP)(a1 pi)=-0.07 +/- 0.07 +/- 0.02, the mixing-induced CP violation parameter S-a1 pi=0.37 +/- 0.21 +/- 0.07, the direct CP violation parameter C-a1 pi=-0.10 +/- 0.15 +/- 0.09, and the parameters Delta C-a1 pi=0.26 +/- 0.15 +/- 0.07 and Delta S-a1 pi=-0.14 +/- 0.21 +/- 0.06. From these measured quantities we determine the angle alpha(eff)=78.6 degrees +/- 7.3 degrees