Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

Reliability of buildings in service limit state for maximum horizontal displacements

Brazilian design code ABNT NBR6118:2003 - Design of Concrete Structures - Procedures - [1] proposes the use of simplified models for the consideration of non-linear material behavior in the evaluation of horizontal displacements in buildings. These models penalize stiffness of columns and beams, representing the effects of concrete cracking and avoiding costly physical non-linear analyses. The objectives of the present paper are to investigate the accuracy and uncertainty of these simplified models, as well as to evaluate the reliabilities of structures designed following ABNT NBR6118:2003[1&] in the service limit state for horizontal displacements. Model error statistics are obtained from 42 representative plane frames. The reliabilities of three typical (4, 8 and 12 floor) buildings are evaluated, using the simplified models and a rigorous, physical and geometrical non-linear analysis. Results show that the 70/70 (column/beam stiffness reduction) model is more accurate and less conservative than the 80/40 model. Results also show that ABNT NBR6118:2003 [1] design criteria for horizontal displacement limit states (masonry damage according to ACI 435.3R-68(1984) [10]) are conservative, and result in reliability indexes which are larger than those recommended in EUROCODE [2] for irreversible service limit states.

Contribution to assessing the stiffness reduction of structural elements in the global stability analysis of precast concrete multi-storey buildings

This study deals with the reduction of the stiffness in precast concrete structural elements of multi-storey buildings to analyze global stability. Having reviewed the technical literature, this paper present indications of stiffness reduction in different codes, standards, and recommendations and compare these to the values found in the present study. The structural model analyzed in this study was constructed with finite elements using ANSYS® software. Physical Non-Linearity (PNL) was considered in relation to the diagrams M x N x 1/r, and Geometric Non-Linearity (GNL) was calculated following the Newton-Raphson method. Using a typical precast concrete structure with multiple floors and a semi-rigid beam-to-column connection, expressions for a stiffness reduction coefficient are presented. The main conclusions of the study are as follows: the reduction coefficients obtained from the diagram M x N x 1/r differ from standards that use a simplified consideration of PNL; the stiffness reduction coefficient for columns in the arrangements analyzed were approximately 0.5 to 0.6; and the variation of values found for stiffness reduction coefficient in concrete beams, which were subjected to the effects of creep with linear coefficients from 0 to 3, ranged from 0.45 to 0.2 for positive bending moments and 0.3 to 0.2 for negative bending moments.

Model-based reuse for crosscutting frameworks: assessing reuse and maintenance effort

Abstract Background Over the last years, a number of researchers have investigated how to improve the reuse of crosscutting concerns. New possibilities have emerged with the advent of aspect-oriented programming, and many frameworks were designed considering the abstractions provided by this new paradigm. We call this type of framework Crosscutting Frameworks (CF), as it usually encapsulates a generic and abstract design of one crosscutting concern. However, most of the proposed CFs employ white-box strategies in their reuse process, requiring two mainly technical skills: (i) knowing syntax details of the programming language employed to build the framework and (ii) being aware of the architectural details of the CF and its internal nomenclature. Also, another problem is that the reuse process can only be initiated as soon as the development process reaches the implementation phase, preventing it from starting earlier. Method In order to solve these problems, we present in this paper a model-based approach for reusing CFs which shields application engineers from technical details, letting him/her concentrate on what the framework really needs from the application under development. To support our approach, two models are proposed: the Reuse Requirements Model (RRM) and the Reuse Model (RM). The former must be used to describe the framework structure and the later is in charge of supporting the reuse process. As soon as the application engineer has filled in the RM, the reuse code can be automatically generated. Results We also present here the result of two comparative experiments using two versions of a Persistence CF: the original one, whose reuse process is based on writing code, and the new one, which is model-based. The first experiment evaluated the productivity during the reuse process, and the second one evaluated the effort of maintaining applications developed with both CF versions. The results show the improvement of 97% in the productivity; however little difference was perceived regarding the effort for maintaining the required application. Conclusion By using the approach herein presented, it was possible to conclude the following: (i) it is possible to automate the instantiation of CFs, and (ii) the productivity of developers are improved as long as they use a model-based instantiation approach.

Impact of thermal bridging on the performance of buildings using Light Steel Framing in Brazil

The Light Steel Framing building technology was introduced in Brazil in the late 1990s for the construction of residential houses. Because the design system was imported from the United States and is optimised to work well in that temperate climate, some modi fi cations must be made to adapt it for the Brazilian climate. The objective of this paper was to assess the impact of thermal bridging across enclosure elements on the thermal performance of buildings designed with Light Steel Framing in Brazil. The numerical simulation program EnergyPlus and a speci fi c method that considered the effects of metallic structures in the hourly simulations were used for the analysis. Two air-conditioned commercial buildings were used as case studies. The peak thermal load increased approximately 10% when an interior metal frame was included in the numerical simulations compared to non-metallic structures. Even when a metal frame panel was used only for vertical elements in the facade of a building with a conventional concrete structure, the simulations showed a 5% increase in annual energy use.

Preserve and protect in a science museum

Reflections on the university campus usually focus on its relevancy as a research and teaching area; however, the need for preservation, protection, maintenance and cleaning only become visible in the event of inadequacy or lack thereof. The aim of this study is to address the characteristics of the preservation and security measures performed at the Science and Technology Park of the University of São Paulo (Parque de Ciência e Tecnologia da Universidade de São Paulo), agency subjected to the Dean’s Office for Culture and University Extension (Pró-Reitoria de Cultura e Extensão Universitária). Because of its history and location, the Park requires special care. The Park’s land formerly housed the Astronomical Observatory of São Paulo and the Institute of Astronomy and Geophysics of the University of São Paulo (Instituto de Astronomia e Geofísica – IAG-USP), within the Fontes do Ipiranga State Park (Parque Estadual das Fontes do Ipiranga – PEFI), in the city of São Paulo. Preservation and reconversion activities relative to historical buildings are developed at the Park. The institution’s location and its specificities require security in its borders, as well as in relation to the users of the park.

Dynamic structure-soil-structure interaction between nearby piled buildings under seismic excitation by BEM-FEM model

[EN]The dynamic throug-soil interaction between nearby pile supported structures in a viscoelastic half-space, under incident S and Rayleigh waves, is numerically studied. To this end, a three-dimensional viscoelastic BEM-FEM formulation for the dynamic analysis of piles and pile groups in the frequency domain is used, where soil is modelled by BEM and piles are simulated by one-dimensional finite elements as Bernouilli beams.

3-D Boundary element-finite element method for the dynamic analysis of piled buildings.

[EN]A boundary element-finite element model is presented for the three-dimensional dynamic analysis of piled buildings in the frequency domain. Piles are modelled as compressible Euler-Bernoulli beams founded on a linear, isotropic, viscoelastic, zoned-homogeneous, unbounded layered soil, while multi-storey buildings are assumed to be comprised of vertical compressible piers and rigid slabs.