Next Generation Sequencing of Pooled Samples Reveals New SNRNP200 Mutations Associated with Retinitis Pigmentosa

The gene SNRNP200 is composed of 45 exons and encodes a protein essential for pre-mRNA splicing, the 200 kDa helicase hBrr2. Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa (adRP), a retinal degenerative disease, in two families from China. In this work we analyzed the entire 35-Kb SNRNP200 genomic region in a cohort of 96 unrelated North American patients with adRP. To complete this large-scale sequencing project, we performed ultra high-throughput sequencing of pooled, untagged PCR products. We then validated the detected DNA changes by Sanger sequencing of individual samples from this cohort and from an additional one of 95 patients. One of the two previously known mutations (p.S1087L) was identified in 3 patients, while 4 new missense changes (p.R681C, p.R681H, p.V683L, p.Y689C) affecting highly conserved codons were identified in 6 unrelated individuals, indicating that the prevalence of SNRNP200-associated adRP is relatively high. We also took advantage of this research to evaluate the pool-and-sequence method, especially with respect to the generation of false positive and negative results. We conclude that, although this strategy can be adopted for rapid discovery of new disease-associated variants, it still requires extensive validation to be used in routine DNA screenings. (C) 2011 Wiley-Liss, Inc.

Generation and suppression of singlet oxygen in hair by photosensitization of melanin

We have studied the spectroscopic properties of hair (white, blond, red, brown, and black) under illumination with visible light, giving special emphasis to the photoinduced generation of singlet oxygen ((1)O(2)). Irradiation of hair shafts (lambda(ex)>400 nm) changed their properties by degrading the melanin. Formation of C3 hydroperoxides in the melanin indol groups was proven by (1)H NMR. After 532-nm excitation, all hair shafts presented the characteristic (1)O(2) emission (lambda(em) = 1270 nm), whose intensity varied inversely with the melanin content. (1)O(2) lifetime was also shown to vary with hair type, being five times shorter in black hair than in blond hair, indicating the role of melanin as a (1)O(2) suppressor. Lifetime ranged from tenths of a nanosecond to a few microseconds, which is much shorter than the lifetime expected for (1)O(2) in the solvents in which the hair shafts were suspended, indicating that (1)O(2) is generated and suppressed inside the hair structure. Both eumelanin and pheomelanin were shown to produce and to suppress (1)O(2), with similar efficiencies. The higher amount of (1)O(2) generated in blond hair and its longer lifetime is compatible with the stronger damage that light exposure causes in blond hair. We propose a model to explain the formation and suppression of (1)O(2) in hair by photosensitization of melanin with visible light and the deleterious effects that an excess of visible light may cause in hair and skin. 2011 Published by Elsevier Inc.

Organizational modeling with a semantic wiki: formalization of content and automatic diagram generation

A key to maintain Enterprises competitiveness is the ability to describe, standardize, and adapt the way it reacts to certain types of business events, and how it interacts with suppliers, partners, competitors, and customers. In this context the field of organization modeling has emerged with the aim to create models that help to create a state of self-awareness in the organization. This project's context is the use of Semantic Web in the Organizational modeling area. The Semantic Web technology advantages can be used to improve the way of modeling organizations. This was accomplished using a Semantic wiki to model organizations. Our research and implementation had two main purposes: formalization of textual content in semantic wiki pages; and automatic generation of diagrams from organization data stored in the semantic wiki pages.

Dissipationless shock waves in Bose-Einstein condensates with repulsive interaction between atoms

We consider formation of dissipationless shock waves in Bose-Einstein condensates with repulsive interaction between atoms. It is shown that for big enough initial inhomogeneity of density, interplay of nonlinear and dispersion effects leads to wave breaking phenomenon followed by generation of a train of dark solitons. Analytical theory is confirmed by numerical simulations.

Solitary waves on a free surface of a heated Maxwell fluid

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Low-frequency absorption cross section of the electromagnetic waves for extreme Reissner-Nordstrom black holes in higher dimensions

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

Combined search for the quarks of a sequential fourth generation

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

A comparison of global estimates of marine primary production from ocean color

The third primary production algorithm round robin (PPARR3) compares output from 24 models that estimate depth-integrated primary production from satellite measurements of ocean color, as well as seven general circulation models (GCMs) coupled with ecosystem or biogeochemical models. Here we compare the global primary production fields corresponding to eight months of 1998 and 1999 as estimated from common input fields of photosynthetically-available radiation (PAR), sea-surface temperature (SST), mixed-layer depth, and chlorophyll concentration. We also quantify the sensitivity of the ocean-color-based models to perturbations in their input variables. The pair-wise correlation between ocean-color models was used to cluster them into groups or related output, which reflect the regions and environmental conditions under which they respond differently. The groups do not follow model complexity with regards to wavelength or depth dependence, though they are related to the manner in which temperature is used to parameterize photosynthesis. Global average PP varies by a factor of two between models. The models diverged the most for the Southern Ocean, SST under 10 degrees C, and chlorophyll concentration exceeding 1 mg Chlm(-3). Based on the conditions under which the model results diverge most, we conclude that current ocean-color-based models are challenged by high-nutrient low-chlorophyll conditions, and extreme temperatures or chlorophyll concentrations. The GCM-based models predict comparable primary production to those based on ocean color: they estimate higher values in the Southern Ocean, at low SST, and in the equatorial band, while they estimate lower values in eutrophic regions (probably because the area of high chlorophyll concentrations is smaller in the GCMs). Further progress in primary production modeling requires improved understanding of the effect of temperature on photosynthesis and better parameterization of the maximum photosynthetic rate. (c) 2006 Elsevier Ltd. All rights reserved.

Behavior of bromide in the photoelectrocatalytic process and bromine generation using nanoporous titanium dioxide thin-film electrodes

In this study, the photoelectrocatalytic behavior of bromide and generation of bromine using TiO2 was investigated in the separate anode and cathode reaction chambers. Our results show that the generation of bromine begins around a flatband potential of -0.34 V vs. standard calomel electrode (SCE) at pH 3.0 under UV illumination and increases with an increase in positive potential, finally reaching a steady-state concentration at 1.0 V vs. SCE. Maximum bromine formation occurs over the range of pH 4-6, decreasing sharply at conditions where the pH > 7. © 2003 Elsevier Ltd. All rights reserved.

U-Pb geochronology of the southern Brasília belt (SE-Brazil): Sedimentary provenance, Neoproterozoic orogeny and assembly of West Gondwana

The Brasília belt borders the western margin of the São Francisco Craton and records the history of ocean opening and closing related to the formation of West Gondwana. This study reports new U-Pb data from the southern sector of the belt in order to provide temporal limits for the deposition and ages of provenance of sediments accumulated in passive margin successions around the south and southwestern margins of the São Francisco Craton, and date the orogenic events leading to the amalgamation of West Gondwana. Ages of detrital zircons (by ID-TIMS and LA-MC-ICPMS) were obtained from metasedimentary units of the passive margin of the São Francisco Craton from the main tectonic domains of the belt: the internal allochthons (Araxá Group in the Áraxá and Passos Nappes), the external allochthons (Canastra Group, Serra da Boa Esperança Metasedimentary Sequence and Andrelândia Group) and the autochthonous or Cratonic Domain (Andrelândia Group). The patterns of provenance ages for these units are uniform and are characterised as follows: Archean- Paleoproterozoic ages (3.4-3.3, 3.1-2.7, and 2.5-2.4Ga); Paleoproterozoic ages attributed to the Transamazonian event (2.3-1.9Ga, with a peak at ca. 2.15Ga) and to the ca. 1.75Ga Espinhaço rifting of the São Francisco Craton; ages between 1.6 and 1.2Ga, with a peak at 1.3Ga, revealing an unexpected variety of Mesoproterozoic sources, still undetected in the São Francisco Craton; and ages between 0.9 and 1.0Ga related to the rifting event that led to the individualisation of the São Francisco paleo-continent and formation of its passive margins. An amphibolite intercalation in the Araxá Group yields a rutile age of ca. 0.9Ga and documents the occurrence of mafic magmatism coeval with sedimentation in the marginal basin. Detrital zircons from the autochthonous and parautochthonous Andrelândia Group, deposited on the southern margin of the São Francisco Craton, yielded a provenance pattern similar to that of the allochthonous units. This result implies that 1.6-1.2Ga source rocks must be present in the São Francisco Craton. They could be located either in the cratonic area, which is mostly covered by the Neoproterozoic epicontinental deposits of the Bambuí Group, or in the outer paleo-continental margin, buried under the allochthonous units of the Brasília belt. Crustal melting and generation of syntectonic crustal granites and migmatisation at ca. 630Ma mark the orogenic event that started with westward subduction of the São Francisco plate and ended with continental collision against the Paraná block (and Goiás terrane). Continuing collision led to the exhumation and cooling of the Araxá and Passos metamorphic nappes, as indicated by monazite ages of ca. 605Ma and mark the final stages of tectonometamorphic activity in the southern Brasília belt. Whilst continent-continent collision was proceeding on the western margin of the São Francisco Craton along the southern Brasília belt, eastward subduction in the East was generating the 634-599Ma Rio Negro magmatic arc which collided with the eastern São Francisco margin at 595-560Ma, much later than in the Brasília belt. Thus, the tectonic effects of the Ribeira belt reached the southernmost sector of the Brasília belt creating a zone of superposition. The thermal front of this event affected the proximal Andrelândia Group at ca. 588Ma, as indicated by monazite age. The participation of the Amazonian craton in the assembly of western Gondwana occurred at 545-500Ma in the Paraguay belt and ca. 500Ma in the Araguaia belt. This, together with the results presented in this work lead to the conclusion that the collision between the Paraná block and Goiás terrane with the São Francisco Craton along the Brasília belt preceded the accretion of the Amazonian craton by 50-100 million years. © 2003 Elsevier B.V. All rights reserved.

Dynamics of bright matter wave solitons in a Bose-Einstein condensate

Recent experimental and theoretical advances in the creation and description of bright matter wave solitons are reviewed. Several aspects are taken into account, including the physics of soliton train formation as the nonlinear Fresnel diffraction, soliton-soliton interactions, and propagation in the presence of inhomogeneities. The generation of stable bright solitons by means of Feshbach resonance techniques is also discussed. © World Scientific Publishing Company.

Waves generated by two or more ships in a channel

The numerical model FUNWAVE+Ship simulates the generation and propagation of ship waves to shore, including phenomena such as refraction, diffraction, currents and breaking of waves. The interaction of two wave trains, generated by ships moving either in the same direction at different speeds or in opposite directions, is studied. Focus is given to the wave orbital velocities and to the free surface pattern.

Searches for Higgs bosons in pp collisions at s=7 and 8 TeV in the context of four-generation and fermiophobic models

Searches are reported for Higgs bosons in the context of either the standard model extended to include a fourth generation of fermions (SM4) with masses of up to 600 GeV or fermiophobic models. For the former, results from three decay modes (ττ, WW, and ZZ) are combined, whilst for the latter the diphoton decay is exploited. The analysed proton-proton collision data correspond to integrated luminosities of up to 5.1 fb-1 at 7 TeV and up to 5.3 fb-1 at 8 TeV. The observed results exclude the SM4 Higgs boson in the mass range 110-600 GeV at 99% confidence level (CL), and in the mass range 110-560 GeV at 99.9% CL. A fermiophobic Higgs boson is excluded in the mass range 110-147 GeV at 95% CL, and in the range 110-133 GeV at 99% CL. The recently observed boson with a mass near 125 GeV is not consistent with either an SM4 or a fermiophobic Higgs boson. © 2013 CERN.

Relationship between age of waste and natural electric potential generation in Sanitary Landfill

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Thermodynamic analysis and comparison of downdraft gasifiers integrated with gas turbine, spark and compression ignition engines for distributed power generation

The objective of the present article is to assess and compare the performance of electricity generation systems integrated with downdraft biomass gasifiers for distributed power generation. A model for estimating the electric power generation of internal combustion engines and gas turbines powered by syngas was developed. First, the model determines the syngas composition and the lower heating value; and second, these data are used to evaluate power generation in Otto, Diesel, and Brayton cycles. Four synthesis gas compositions were tested for gasification with: air; pure oxygen; 60% oxygen with 40% steam; and 60% air with 40% steam. The results show a maximum power ratio of 0.567 kWh/Nm(3) for the gas turbine system, 0.647 kWh/Nm(3) for the compression ignition engine, and 0.775 kWh/Nm(3) for the spark-ignition engine while running on synthesis gas which was produced using pure oxygen as gasification agent. When these three systems run on synthesis gas produced using atmospheric air as gasification agent, the maximum power ratios were 0.274 kWh/Nm(3) for the gas turbine system, 0.302 kWh/Nm(3) for CIE, and 0.282 kWh/Nm(3) for SIE. The relationship between power output and synthesis gas flow variations is presented as is the dependence of efficiency on compression ratios. Since the maximum attainable power ratio of CIE is higher than that of SIE for gasification with air, more research should be performed on utilization of synthesis gas in CIE. (C) 2014 Elsevier Ltd. All rights reserved.