Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.

Role of the range of the dipole function in the classical dynamics of molecular dissociation

The dissociation dynamics of heteronuclear diatomic molecules induced by infrared laser pulses is investigated within the framework of the classical driven Morse oscillator. The interaction between the molecule and the laser field described in the dipole formulation is given by the product of a time-dependent external field with a position-dependent permanent dipole function. The effects of changing the spatial range of the dipole function in the classical dissociation dynamics of large ensembles of trajectories are studied. Numerical calculations have been performed for distinct amplitudes and carrier frequencies of the external pulses and also for ensembles with different initial energies. It is found that there exist a set of values of the dipole range for which the dissociation probability can be completely suppressed. The dependence of the dissociation on the dipole range is explained through the examination of the Fourier series coefficients of the dipole function in the angle variable of the free system. In particular, the suppression of dissociation corresponds to dipole ranges for which the Fourier coefficients associated with nonlinear resonances are null and the chaotic region in the phase space is reduced to thin layers. In this context, it is shown that the suppression of dissociation of heteronuclear molecules for certain frequencies of the external field is a consequence of the finite range of the corresponding permanent dipole. © 2013 American Physical Society.

Some dynamical properties of a classical dissipative bouncing ball model with two nonlinearities

Some dynamical properties for a bouncing ball model are studied. We show that when dissipation is introduced the structure of the phase space is changed and attractors appear. Increasing the amount of dissipation, the edges of the basins of attraction of an attracting fixed point touch the chaotic attractor. Consequently the chaotic attractor and its basin of attraction are destroyed given place to a transient described by a power law with exponent -2. The parameter-space is also studied and we show that it presents a rich structure with infinite self-similar structures of shrimp-shape. © 2013 Elsevier B.V. All rights reserved.

Sending classical information through relativistic quantum channels

We investigate how special relativity influences the transmission of classical information through quantum channels by evaluating the Holevo bound when the sender and the receiver are in (relativistic) relative motion. By using the spin degrees of freedom of spin-1/2 fermions to encode the classical information, we show that, for some configurations, the accessible information in the receiver can be increased when the spin detector moves fast enough. This is possible by allowing the momentum wave packet of one of the particles to be sufficiently wide while the momentum wave packets of other particles are kept relatively narrow. In this way, one can take advantage of the fact that boosts entangle the spin and momentum degrees of freedom of spin-1/2 fermions to increase the accessible information in the former. We close the paper with a discussion of how this relativistic quantum channel cannot in general be described by completely positive quantum maps. © 2013 American Physical Society.

Chaotic thermalization in classical gauge theories

We explore the idea that chaos concepts might be useful for understanding the thermalization in gauge theories. The SU(2) Higgs model is discussed as a prototype of system with gauge fields coupled to matter fields. Through the numerical solution of the equations of motion, we are able to characterize chaotic behavior via the corresponding Lyapunov exponent. Then it is demonstrated that the system's approach to equilibrium can be understood through direct application of the principles of Statistical Mechanics. © 2013 AIP Publishing LLC.

Dynamical properties for an ensemble of classical particles moving in a driven potential well with different time perturbation

We consider dynamical properties for an ensemble of classical particles confined to an infinite box of potential and containing a time-dependent potential well described by different nonlinear functions. For smooth functions, the phase space contains chaotic trajectories, periodic islands and invariant spanning curves preventing the unlimited particle diffusion along the energy axis. Average properties of the chaotic sea are characterised as a function of the control parameters and exponents describing their behaviour show no dependence on the perturbation functions. Given invariant spanning curves are present in the phase space, a sticky region was observed and show to modify locally the diffusion of the particles. © 2013 Elsevier B.V.

A guitarra clássico-romântica: história dos métodos de um instrumento

Pós-graduação em Música - IA

Figuratividade na poesia bucólica de Virgílio

Pós-graduação em Estudos Literários - FCLAR

A contradição entre herança ibérica e modernização brasileira no pensamento político de Sérgio Buarque de Holanda: o livro Raízes do Brasil

Pós-graduação em História - FCLAS

Ciranda: do canto de roda ao universo composicional contemporâneo

Pós-graduação em Música - IA

A periodization of Latin American development in the Robinsonian tradition

This paper analyzes Joan Robinson's growth model and then adapts it in order to provide an explanatory taxonomy of Growth Eras. The Growth Eras or Ages were for Robinson a way to provide logical connections between output growth, capital accumulation, the degree of thriftiness, the real wage and illustrate a catalogue of growth possibilities. This modified taxonomy follows the spirit of Robinson's work, but it takes different theoretical approaches. which imply that some of the classifications do not fit perfectly the ones here suggested. Latin America has moved from a Golden Age in the 1950s and 1960s to a Leaden Age in the 1980s, having two traverse periods, one of which the process of growth and industrialization accelerated in the late 1960s and early 1970s, which is referred to as a Galloping Platinum Age, an one in which a process of deindustrialization and reprimarization and maquilization of the productive structure took place, starting in the 1990s, which could be referred as the Creeping Platinum Age.

Type-II defects in integrable classical field theories

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

A poética interartes na tessitura de “O Ouvido” de José Saramago

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Darius Milhaud: o nacionalismo francês e a conexão com o Brasil

Pós-graduação em Música - IA

Tradição e ruptura: Pierre Boulez e a formação do cânone no pós-guerra (1946-1954)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)