930 resultados para SUBCLINICAL FORM


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Includes bibliography

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Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary myotonia in Murrah buffalo. Clinical and laboratory evaluations were performed on affected and normal animals. CLCN1 cDNA and the relevant genomic region from normal and affected animals were sequenced. The affected animals exhibited muscle hypertrophy and stiffness. Myotonic discharges were observed during EMG, and dystrophic changes were not present in skeletal muscle biopsies; the last 43 nucleotides of exon-3 of the CLCN1 mRNA were deleted. Cloning of the genomic fragment revealed that the exclusion of this exonic sequence was caused by aberrant splicing, which was associated with the presence of a synonymous SNP in exon-3 (c.396C>T). The mutant allele triggered the efficient use of an ectopic 5' splice donor site located at nucleotides 90-91 of exon-3. The predicted impact of this aberrant splicing event is the alteration of the CLCN1 translational reading frame, which results in the incorporation of 24 unrelated amino acids followed by a premature stop codon. Copyright © 2012 Elsevier B.V. All rights reserved.

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Four-fermion operators have been used in the past to link the quark-exchange processes in the interaction of hadrons with the effective meson-exchange amplitudes. In this paper, we apply the similar idea of a Fierz rearrangement to the self-energy and electromagnetic processes and focus on the electromagnetic form factors of the nucleon and the electron. We explain the motivation of using four-fermion operators and discuss the advantage of this method in computing electromagnetic processes. © 2013 American Physical Society.

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We study consistently the pion's static observables and the elastic and γ* γ → π0 transition form factors within a light-front model. Consistency requires that all calculations are performed within a given model with the same and single adjusted length or mass-scale parameter of the associated pion bound-state wave function. Our results agree well with all extent data including recent Belle data on the γ* γ → π0 form factor at large q2, yet the BaBar data on this transition form factor resists a sensible comparison. We relax the initial constraint on the bound-state wave function and show the BaBar data can partially be accommodated. This, however, comes at the cost of a hard elastic form factor not in agreement with experiment. Moreover, the pion charge radius is about 40 % smaller than its experimentally determined value. It is argued that a decreasing charge radius produces an ever harder form factor with a bound-state amplitude difficultly reconcilable with soft QCD. We also discuss why vector dominance type models for the photon-quark vertex, based on analyticity and crossing symmetry, are unlikely to reproduce the litigious transition form factor data. © 2013 Springer-Verlag Wien.

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Leprosy in children is correlated with community-level factors, including the recent presence of disease and active foci of transmission in the community. We performed clinical and serological examinations of 1,592 randomly selected school children (SC) in a cross-sectional study of eight hyperendemic municipalities in the Brazilian Amazon Region. Sixty-three (4%) SC, with a mean age of 13.3 years (standard deviation = 2.6), were diagnosed with leprosy and 777 (48.8%) were seropositive for anti-phenolic glycolipid-I (PGL-I). Additionally, we evaluated 256 house-hold contacts (HHCs) of the students diagnosed with leprosy; 24 (9.4%) HHC were also diagnosed with leprosy and 107 (41.8%) were seropositive. The seroprevalence of anti-PGL-I was significantly higher amongst girls, students from urban areas and students from public schools (p < 0.0001). Forty-five (71.4%) new cases detected amongst SC were classified as paucibacillary and 59 (93.6%) patients did not demonstrate any degree of physical disability at diagnosis. The results of this study suggest that there is a high rate of undiagnosed leprosy and subclinical infection amongst children in the Amazon Region. The advantages of school surveys in hyperendemic areas include identifying leprosy patients at an early stage when they show no physical disabilities, preventing the spread of the infection in the community and breaking the chain of transmission.

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Com o objetivo de avaliar o comportamento da paracoccidioidomicose nas últimas três décadas, dados clínicos e epidemiológicos de 595 pacientes atendidos dentre 1980 a 2009 no Hospital da Universidade Federal de Mato Grosso do Sul foram estudados. Sexo, faixa etária, forma clínica, associação com tuberculose ou AIDS e mortalidade foram comparados por década em que a doença foi diagnosticada. Observou-se, nas três décadas do estudo, uma redução do percentual de mulheres, de pacientes do grupo de 20 a 39 anos, assim como de casos com a forma aguda/subaguda. Estas alterações estão intimamente relacionadas e podem ser analisadas simultaneamente. Houve aumento de casos de coinfecção com AIDS da primeira para segunda década, coincidindo com o surgimento da epidemia, e manteve-se estável durante a década seguinte. Não houve alteração da taxa de coinfecção com tuberculose, que no geral foi de 6,9% o que reforça a importância desta comorbidade. A taxa geral de mortalidade foi de 6,7% e também não variou entre as décadas estudadas. A manutenção da taxa de óbitos chama a atenção para a relevância dessa doença negligenciada.

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

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

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Among the three forms of relativistic Hamiltonian dynamics proposed by Dirac in 1949, the front form has the largest number of kinematic generators. This distinction provides useful consequences in the analysis of physical observables in hadron physics. Using the method of interpolation between the instant form and the front form, we introduce the interpolating scattering amplitude that links the corresponding time-ordered amplitudes between the two forms of dynamics and provide the physical meaning of the kinematic transformations as they allow the invariance of each individual time-ordered amplitude for an arbitrary interpolation angle. We discuss the rationale for using front form dynamics, nowadays known as light-front dynamics (LFD), and present a few explicit examples of hadron phenomenology that LFD uniquely can offer from first-principles quantum chromodynamics. In particular, model-independent constraints are provided for the analyses of deuteron form factors and the N Delta transition form factors at large momentum transfer squared Q(2). The swap of helicity amplitudes between the collinear and non-collinear kinematics is also discussed in deeply virtual Compton scattering.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)