Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual With Van der Woude Syndrome

Genetic variation in the transcription factor interferon regulatory factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five criteria to identify potential IRF6 target genes; differential gene expression in skin taken from wild-type and Irf6-deficient murine embryos, localization to the Van der Woude syndrome 2 (VWS2) locus at 1p36-1p32, overlapping expression with Irf6, presence of a conserved predicted-binding site in the promoter region, and a mutant murine phenotype that was similar to the Irf6 mutant mouse. Previously, we observed altered expression for 573 genes; 13 were located in the murine region syntenic to the VWS2 locus. Two of these genes, Wdr65 and Stratifin, met 4 of 5 criteria. Wdr65 was a novel gene that encoded a predicted protein of 1,250 amino acids with two WD domains. As potential targets for Irf6 regulation, we hypothesized that disease-causing mutations will be found in WDR65 and Stratifin in individuals with VWS or VWS-like syndromes. We identified a potentially etiologic missense mutation in WDR65 in a person with VWS who does not have an exonic mutation in IRF6. The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. (C) 2011 Wiley-Liss, Inc.

CMS physics technical design report, volume II: Physics performance

CMS is a general purpose experiment, designed to study the physics of pp collisions at 14 TeV at the Large Hadron Collider ( LHC). It currently involves more than 2000 physicists from more than 150 institutes and 37 countries. The LHC will provide extraordinary opportunities for particle physics based on its unprecedented collision energy and luminosity when it begins operation in 2007. The principal aim of this report is to present the strategy of CMS to explore the rich physics programme offered by the LHC. This volume demonstrates the physics capability of the CMS experiment. The prime goals of CMS are to explore physics at the TeV scale and to study the mechanism of electroweak symmetry breaking - through the discovery of the Higgs particle or otherwise. To carry out this task, CMS must be prepared to search for new particles, such as the Higgs boson or supersymmetric partners of the Standard Model particles, from the start- up of the LHC since new physics at the TeV scale may manifest itself with modest data samples of the order of a few fb(-1) or less. The analysis tools that have been developed are applied to study in great detail and with all the methodology of performing an analysis on CMS data specific benchmark processes upon which to gauge the performance of CMS. These processes cover several Higgs boson decay channels, the production and decay of new particles such as Z' and supersymmetric particles, B-s production and processes in heavy ion collisions. The simulation of these benchmark processes includes subtle effects such as possible detector miscalibration and misalignment. Besides these benchmark processes, the physics reach of CMS is studied for a large number of signatures arising in the Standard Model and also in theories beyond the Standard Model for integrated luminosities ranging from 1 fb(-1) to 30 fb(-1). The Standard Model processes include QCD, B-physics, diffraction, detailed studies of the top quark properties, and electroweak physics topics such as the W and Z(0) boson properties. The production and decay of the Higgs particle is studied for many observable decays, and the precision with which the Higgs boson properties can be derived is determined. About ten different supersymmetry benchmark points are analysed using full simulation. The CMS discovery reach is evaluated in the SUSY parameter space covering a large variety of decay signatures. Furthermore, the discovery reach for a plethora of alternative models for new physics is explored, notably extra dimensions, new vector boson high mass states, little Higgs models, technicolour and others. Methods to discriminate between models have been investigated. This report is organized as follows. Chapter 1, the Introduction, describes the context of this document. Chapters 2-6 describe examples of full analyses, with photons, electrons, muons, jets, missing E-T, B-mesons and tau's, and for quarkonia in heavy ion collisions. Chapters 7-15 describe the physics reach for Standard Model processes, Higgs discovery and searches for new physics beyond the Standard Model.

BCS superconductivity in the van Hove scenario in s and d waves

The effect of including a van Hove singularity in the density of state of a renormalized BCS equation in s and d waves and its appropriateness in describing some properties of high-Tc cuprates in the weak-coupling region are studied in two space dimensions. The specific heat and knight shift as a function of temperature exhibit scaling below the critical temperature in d wave. We also study the jump in the specific heat at the critical temperature Tc in s and d waves, which can have values significantly higher than the standard BCS values and which increases with Tc, as experimentally observed in many d-wave high-Tc materials. The experimental results on the specific heat and knight shift of the Y-123 system are compared with the theoretical predictions.

The CMS experiment at the CERN LHC

The Compact Muon Solenoid (CMS) detector is described. The detector operates at the Large Hadron Collider (LHC) at CERN. It was conceived to study proton-proton (and lead-lead) collisions at a centre-of-mass energy of 14 TeV (5.5 TeV nucleon-nucleon) and at luminosities up to 10(34)cm(-2)s(-1) (10(27)cm(-2)s(-1)). At the core of the CMS detector sits a high-magnetic-field and large-bore superconducting solenoid surrounding an all-silicon pixel and strip tracker, a lead-tungstate scintillating-crystals electromagnetic calorimeter, and a brass-scintillator sampling hadron calorimeter. The iron yoke of the flux-return is instrumented with four stations of muon detectors covering most of the 4 pi solid angle. Forward sampling calorimeters extend the pseudo-rapidity coverage to high values (vertical bar eta vertical bar <= 5) assuring very good hermeticity. The overall dimensions of the CMS detector are a length of 21.6 m, a diameter of 14.6 m and a total weight of 12500 t.

Combination of Tevatron Searches for the Standard Model Higgs Boson in the W+W- Decay Mode

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Combined Tevatron upper limit on gg -> H -> W+W- and constraints on the Higgs boson mass in fourth-generation fermion models

We combine results from searches by the CDF and D0 collaborations for a standard model Higgs boson (H) in the process gg -> H -> W+W- in p (p) over bar collisions at the Fermilab Tevatron Collider at root s = 1.96 TeV. With 4.8 fb(-1) of integrated luminosity analyzed at CDF and 5.4 fb(-1) at D0, the 95% confidence level upper limit on sigma(gg -> H) x B(H -> W+W-) is 1.75 pb at m(H) = 120 GeV, 0.38 pb at m(H) = 165 GeV, and 0.83 pb at m(H) = 200 GeV. Assuming the presence of a fourth sequential generation of fermions with large masses, we exclude at the 95% confidence level a standard-model-like Higgs boson with a mass between 131 and 204 GeV.

Effective Fokker-Planck equation for birhythmic modified van der Pol oscillator

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Feeding associations between Guiana dolphins, Sotalia guianensis (Van Bénèden, 1864) and seabirds in the Lagamar estuary, Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Group size and composition of Guiana dolphins (Sotalia guianensis) (Van Bénèden, 1864) in the Paranaguá Estuarine Complex, Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relationship between lower-lip fistulae and cleft lip and/or palate in Van der Woude syndrome

Objective: This study was conducted to evaluate the relationship between fistulae of the lower lip and cleft lip and/or palate in patients with Van der Woude syndrome.Methods: the medical records of 11,000 patients with cleft lip and/or palate registered at the Cleft Lip-Palate Research and Rehabilitation Hospital, University of São Paulo, Bauru were reviewed. of these patients, 133 (1.2%) presented with Van der Woude syndrome.Results: of the 133 patients, 88 (66.2%) exhibited full clefts, 22 (16.5%) only cleft lip, and 23 (17.3%) only cleft palate. The lower-lip fistulae observed in these 133 patients were bilateral symmetric in 66 (49.7%), bilateral asymmetric in 42 (31.6%), microform in 19 (14.3%), median in 5 (3.8%), and unilateral in 1 (0.7%).Conclusion: This population sample appears to exhibit the previously published tendency for bilateral, unilateral, or mixed-type congenital fistulae to be associated with cleft lip with or without cleft palate, while so-called microforms or conic elevations are almost exclusively associated with cleft palate.

Anthracnose control and mango quality (Mangifera indica L.) cv. van dyke after hydrothermal and chemical treatment

Anthracnose causes severe damage to the mango skin. Therefore, there is need to do the post-harvest phytosanitary treatment of the fruits through soaking in fungicide solution, which associated with the hydrothermal treatment has resulted into improved benefits. The present work has aimed at studying anthracnose control and post-harvest quality of mangoes (Mangifera indica L.), cv. Van Dyke after hydrothermal treatment associated with chemical through the physical, physicochemical, chemical and phytopathologic analyses. The mangoes coming from the commercial orchard of the town of Jana ba-MG, of the 2000 crop, were harvested at the commercial maturation stage. After selection according to color uniformity, size and absence of mechanic and physiologic injuries, they were shipped in plastic boxes to the EPAMIG - CTNM - Nova Porteirinha - MG, fruit post-harvest laboratory, where the samples were submitted to the hydrothermal treatment in cold bath in solution containing the fungicides Thiabendazole (Tecto 400 mL/100L), Proclaraz (Sportak 10L/100L) and Imazalil (Magnate 200mL/100L). After air-drying, the fruits were packed in plastic trays and stored at room temperature (25 +/- 2 degrees C and RH 70%) for a 12-day period and evaluated as to the intrinsic quality characteristics every 4 days. The experiment was conducted a completely randomized with 8 treatments, 4 replicates and experimental unit consisting of 4 fruits. The variations of pH, total soluble solids, total titrable acidity and total soluble sugars have not endangered the organoleptic characteristics of mangoes cv. Van Dyke stored under room temperature (25 +/- 2 degrees C and RH 70%) till 8 days' storage. The association of the hydrothermal treatment with the chemical was efficient in fruit anthracnose control for till 12 days' storage. The fungicide Prochloraz (Sportak 110 mL/100L), associated with the hydrothermal treatment, completely inhibited the appearance of anthracnose symptoms.

Reinterpretation of Malvinoconularia cahuanotensis (Braniša and Vaněk) from the Devonian Altiplano and Western Andean Cordillera, Bolivia, South America

The holotype of Malvinoconularia cahuanotensis (Braniša and Vaněk) (Devonian, Bolivia), the type species of the monospecific genus Malvinoconularia Babcock et al., is redescribed and refigured. M. cahuanotensis exhibits several gross morphological features that together are uniquely shared with Reticulaconularia baini (Babcock and Feldmann). In both taxa, the transverse ribs are nodose, the inter-spaces bear longitudinal ridges (bars or crests) that are collinear (line up) across the transverse ribs, and the longitudinal centerline (midline) of the faces is marked by a subdued ridge. Additionally, the two species may also be similar in the anatomy and external ornament of the corner sulcus. The slightly undulose geometry of the transverse ribs of M. cahuanotensis also is exhibited by certain specimens of Reticulaconularia; however, whether this feature is primary or taphonomic in origin is unclear at present. Together, these similarities suggest that the genus Malvinoconularia probably is a junior synonym of the genus Reticulaconularia. © Asociación Paleontológica Argentina.

Clinical and molecular phenotype of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

Las controversias en el marco de la Organización Mundial de Comercio: de dónde vienen, en dónde están, a dónde van

Incluye Bibliografía

Combination of CDF and D0 measurements of the W boson helicity in top quark decays

We report the combination of recent measurements of the helicity of the W boson from top quark decay by the CDF and D0 collaborations, based on data samples corresponding to integrated luminosities of 2.7-5.4fb -1 of pp̄ collisions collected during Run II of the Fermilab Tevatron collider. Combining measurements that simultaneously determine the fractions of W bosons with longitudinal (f 0) and right-handed (f +) helicities, we find f 0=0.722±0.081[±0.062(stat)±0.052(syst)] and f +=-0.033±0.046[±0.034(stat)±0.031(syst)]. Combining measurements where one of the helicity fractions is fixed to the value expected in the standard model, we find f 0=0.682±0. 057[±0.035(stat)±0.046(syst)] for fixed f + and f +=-0.015±0.035[±0.018(stat)±0.030(syst)] for fixed f 0. The results are consistent with standard model expectations. © 2012 American Physical Society.