5 resultados para Bonet, Carmelo

em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo


Relevância:

10.00% 10.00%

Publicador:

Resumo:

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (<= 8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

We study the charge dynamic structure factor of the one-dimensional Hubbard model with finite on-site repulsion U at half-filling. Numerical results from the time-dependent density matrix renormalization group are analyzed by comparison with the exact spectrum of the model. The evolution of the line shape as a function of U is explained in terms of a relative transfer of spectral weight between the two-holon continuum that dominates in the limit U -> infinity and a subset of the two-holon-two-spinon continuum that reconstructs the electron-hole continuum in the limit U -> 0. Power-law singularities along boundary lines of the spectrum are described by effective impurity models that are explicitly invariant under spin and eta-spin SU(2) rotations. The Mott-Hubbard metal-insulator transition is reflected in a discontinuous change of the exponents of edge singularities at U = 0. The sharp feature observed in the spectrum for momenta near the zone boundary is attributed to a van Hove singularity that persists as a consequence of integrability.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

We present measurements of Underlying Event observables in pp collisions at root s = 0 : 9 and 7 TeV. The analysis is performed as a function of the highest charged-particle transverse momentum p(T),L-T in the event. Different regions are defined with respect to the azimuthal direction of the leading (highest transverse momentum) track: Toward, Transverse and Away. The Toward and Away regions collect the fragmentation products of the hardest partonic interaction. The Transverse region is expected to be most sensitive to the Underlying Event activity. The study is performed with charged particles above three different p(T) thresholds: 0.15, 0.5 and 1.0 GeV/c. In the Transverse region we observe an increase in the multiplicity of a factor 2-3 between the lower and higher collision energies, depending on the track p(T) threshold considered. Data are compared to PYTHIA 6.4, PYTHIA 8.1 and PHOJET. On average, all models considered underestimate the multiplicity and summed p(T) in the Transverse region by about 10-30%.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

INTRODUÇÃO: Na prática odontológica, o Cirurgião-Dentista está sujeito aos efeitos nocivos provocados por diversos agentes, como pelo ruído emitido por seus instrumentos de trabalho. Em 1959, a American Dental Association recomendava avaliações audiométricas periódicas e uso de proteção auditiva. São necessárias maiores informações sobre o comportamento auditivo dessa população: Cirurgiões-Dentistas, Auxiliares e Protéticos para se propor medidas de prevenção e tratamento precoce. OBJETIVO: Investigar os limiares de audibilidade em Cirurgiões-Dentistas, Auxiliares e Protéticos. MÉTODO: Forma de estudo: Estudo Clínico.Participaram 108 profissionais, sendo 44 Cirurgiões-Dentistas (GI), 36 Auxiliares (G II) e 28 Protéticos (GIII). Foram realizadas: entrevista específica, meatoscopia, audiometria tonal convencional e de altas frequências, logoaudiometria, imitanciometria. RESULTADOS: A comparação entre as médias dos limiares evidenciaram piora com o aumento da frequência para os 3 grupos testados; para a média tritonal de 500 a 2000Hz, e 3000 a 6000 Hz, o GIII apresentou os piores limiares, já para a média das altas frequências (9000 a 16.000Hz) o GII apresentou os piores limiares. CONCLUSÃO: A avaliação audiológica convencional não identificou exames alterados para os três grupos testados, no entanto, o exame da avaliação audiológica complementar como a audiometria de altas frequências indicou maior sensibilidade na detecção precoce de alterações auditivas uma vez que a perda auditiva dessa população acomete as frequências que não são testadas nos exames convencionais. Dessa maneira enfatizamos nesse trabalho a necessidade de inserir na rotina de exames a audiometria de altas frequências juntamente com os outros exames audiológicos.