5,228 research outputs found

    Amyotrophic lateral sclerosis genetic studies: from genome-wide association mapping to genome sequencing

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    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed

    Nonperturbative renormalization in a scalar model within Light-Front Dynamics

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    Within the covariant formulation of Light-Front Dynamics, in a scalar model with the interaction Hamiltonian H=gψ2(x)ϕ(x)H=-g\psi^{2}(x)\phi(x), we calculate nonperturbatively the renormalized state vector of a scalar "nucleon" in a truncated Fock space containing the NN, NπN\pi and NππN\pi\pi sectors. The model gives a simple example of non-perturbative renormalization which is carried out numerically. Though the mass renormalization δm2\delta m^2 diverges logarithmically with the cutoff LL, the Fock components of the "physical" nucleon are stable when LL\to\infty.Comment: 22 pages, 5 figure

    Poincare Invariant Algebra From Instant to Light-Front Quantization

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    We present the Poincare algebra interpolating between instant and light-front time quantizations. The angular momentum operators satisfying SU(2) algebra are constructed in an arbitrary interpolation angle and shown to be identical to the ordinary angular momentum and Leutwyler-Stern angular momentum in the instant and light-front quantization limits, respectively. The exchange of the dynamical role between the transverse angular mometum and the boost operators is manifest in our newly constructed algebra.Comment: 21 pages, 3 figures, 1 tabl

    The Impact of QCD and Light-Cone Quantum Mechanics on Nuclear Physics

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    We discuss a number of novel applications of Quantum Chromodynamics to nuclear structure and dynamics, such as the reduced amplitude formalism for exclusive nuclear amplitudes. We particularly emphasize the importance of light-cone Hamiltonian and Fock State methods as a tool for describing the wavefunctions of composite relativistic many-body systems and their interactions. We also show that the use of covariant kinematics leads to nontrivial corrections to the standard formulae for the axial, magnetic, and quadrupole moments of nucleons and nuclei.Comment: 25 pages, uuencoded postscript file---To obtain a hard copy of this paper, send e-mail to [email protected] and ask fo

    Renormalized Effective QCD Hamiltonian: Gluonic Sector

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    Extending previous QCD Hamiltonian studies, we present a new renormalization procedure which generates an effective Hamiltonian for the gluon sector. The formulation is in the Coulomb gauge where the QCD Hamiltonian is renormalizable and the Gribov problem can be resolved. We utilize elements of the Glazek and Wilson regularization method but now introduce a continuous cut-off procedure which eliminates non-local counterterms. The effective Hamiltonian is then derived to second order in the strong coupling constant. The resulting renormalized Hamiltonian provides a realistic starting point for approximate many-body calculations of hadronic properties for systems with explicit gluon degrees of freedom.Comment: 25 pages, no figures, revte

    Light-Front Bethe-Salpeter Equation

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    A three-dimensional reduction of the two-particle Bethe-Salpeter equation is proposed. The proposed reduction is in the framework of light-front dynamics. It yields auxiliary quantities for the transition matrix and the bound state. The arising effective interaction can be perturbatively expanded according to the number of particles exchanged at a given light-front time. An example suggests that the convergence of the expansion is rapid. This result is particular for light-front dynamics. The covariant results of the Bethe-Salpeter equation can be recovered from the corresponding auxiliary three-dimensional ones. The technical procedure is developed for a two-boson case; the idea for an extension to fermions is given. The technical procedure appears quite practicable, possibly allowing one to go beyond the ladder approximation for the solution of the Bethe-Salpeter equation. The relation between the three-dimensional light-front reduction of the field-theoretic Bethe-Salpeter equation and a corresponding quantum-mechanical description is discussed.Comment: 42 pages, 5 figure

    Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

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    Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment
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