Distal Renal Tubular Acidosis and Sensorineural Deafness with Mutation in the ATP6V1B1 Gene

A acidose tubular renal distal é uma doença rara, caracterizada pela incapacidade na acidificação da urina, condicionando acidose metabólica hiperclorémica, hipocaliémia, hipercalciúria e nefrocalcinose, o que poderá causar atraso de crescimento, alteração do metabolismo ósseo e insuficiência renal crónica. A acidose tubular renal distal associada a surdez neurossensorial é uma doença de herança autossómica recessiva, causada por mutações do gene que codifica a subunidade B1 da H+ -ATPase (ATP6V1B1). Os autores relatam os casos de duas irmãs que apresentaram má progressão ponderal, alterações iónicas, do equilíbrio ácido base e surdez neurossensorial. Foi detectada em ambas as crianças a mutação homozigótica no gene ATP6V1B1. Com estes dois casos pretende -se destacar a importância de um diagnóstico precoce nesta patologia rara

Dynamical Symmetry Breaking in Models with the Yukawa Interaction

We discuss models with a massless fermion and a self-interacting massive scalar field with the Yukawa interaction. The chiral condensate and the fermion mass are calculated analytically. It is shown that the models have a phase transition as a function of the squared mass of the scalar field.Comment: 7 pages, no figures, in Eqs. (7) and (11) one coefficient was change

Holographic Roberge-Weiss Transitions

We investigate N=4 SYM coupled to fundamental flavours at nonzero imaginary quark chemical potential in the strong coupling and large N limit, using gauge/gravity duality applied to the D3-D7 system, treating flavours in the probe approximation. The interplay between Z(N) symmetry and the imaginary chemical potential yields a series of first-order Roberge-Weiss transitions. An additional thermal transition separates phases where quarks are bound/unbound into mesons. This results in a set of Roberge-Weiss endpoints: we establish that these are triple points, determine the Roberge-Weiss temperature, give the curvature of the phase boundaries and confirm that the theory is analytic in mu^2 when mu^2~0.Comment: 37 pages, 13 figures; minor comments added, to appear in JHE

Low-energy theorems of QCD and bulk viscosity at finite temperature and baryon density in a magnetic field

The nonperturbative QCD vacuum at finite temperature and a finite baryon density in an external magnetic field is studied. Equations relating nonperturbative condensates to the thermodynamic pressure for $T\neq 0$, $\mu_q \neq 0$ and $H\neq 0$ are obtained, and low-energy theorems are derived. A bulk viscosity $\zeta(T, \mu, H)$ is expressed in terms of basic thermodynamical quantities describing the quark-gluon matter at $T\neq 0$, $\mu_q \neq 0$, and $H\neq 0$. Various limiting cases are also considered.Comment: 12 pages; v2: title changed, new section about bulk viscosity and new references added; v3: new discussion adde

Holographic Roberge-Weiss Transitions II: Defect Theories and the Sakai-Sugimoto Model

We extend the work of Aarts et al., including an imaginary chemical potential for quark number into the Sakai-Sugimoto model and codimension k defect theories. The phase diagram of these models are a function of three parameters, the temperature, chemical potential and the asymptotic separation of the flavour branes, related to a mass for the quarks in the boundary theories. We compute the phase diagrams and the pressure due to the flavours of the theories as a function of these parameters and show that there are Roberge-Weiss transitions in the high temperature phases, chiral symmetry restored for the Sakai-Sugimoto model and deconfined for the defect models, while at low temperatures there are no Roberge-Weiss transitions. In all the models we consider the transitions between low and high temperature phases are first order, hence the points where they meet the Roberge-Weiss lines are triple points. The pressure for the defect theories scales in the way we expect from dimensional analysis while the Sakai-Sugimoto model exhibits unusual scaling. We show that the models we consider are analytic in \mu^2 when \mu^2 is small.Comment: 39 pages, 12 figures. references added, Sakai-Sugimoto section revised, version to appear in JHE

The gluonic condensate from the hyperfine splitting Mcog(χcJ)−M(hc)M_{\rm cog}(\chi_{cJ})-M(h_c) in charmonium

The precision measurement of the hyperfine splitting $\Delta_{\rm HF} (1P, c\bar c)=M_{\rm cog} (\chi_{cJ}) - M(h_c) = -0.5 \pm 0.4$ MeV in the Fermilab--E835 experiment allows to determine the gluonic condensate $G_2$ with high accuracy if the gluonic correlation length $T_g$ is fixed. In our calculations the negative value of $\Delta_{\rm HF} = -0.3 \pm 0.4$ MeV is obtained only if the relatively small $T_g = 0.16$ fm and $G_2 = 0.065 (3)$ GeV${}^4$ are taken. These values correspond to the ``physical'' string tension $(\sigma \approx 0.18$ GeV$^2$). For $T_g \ge 0.2$ fm the hyperfine splitting is positive and grows for increasing $T_g$. In particular for $T_g = 0.2$ fm and $G_2 = 0.041 (2)$ GeV${}^4$ the splitting $\Delta_{\rm HF} = 1.4 (2)$ MeV is obtained, which is in accord with the recent CLEO result.Comment: 9 pages revtex 4, no figure

Topological susceptibility in Yang-Mills theory in the vacuum correlator method

We calculate the topological susceptibility of the Yang-Mills vacuum using the field correlator method. Our estimate for the SU(3) gauge group, \chi^{1/4} = 196(7) MeV, is in a very good agreement with the results of recent numerical simulations of the Yang-Mills theory on the lattice.Comment: 5 pages (JETP Letters style

Real and imaginary chemical potential in 2-color QCD

In this paper we study the finite temperature SU(2) gauge theory with staggered fermions for non-zero imaginary and real chemical potential. The method of analytical continuation of Monte Carlo results from imaginary to real chemical potential is tested by comparison with simulations performed {\em directly} for real chemical potential. We discuss the applicability of the method in the different regions of the phase diagram in the temperature -- imaginary chemical potential plane.Comment: 15 pages, 7 figures; a few comments added; version published on Phys. Rev.

The critical line from imaginary to real baryonic chemical potentials in two-color QCD

The method of analytic continuation from imaginary to real chemical potentials $\mu$ is one of the few available techniques to study QCD at finite temperature and baryon density. One of its most appealing applications is the determination of the critical line for small $\mu$: we perform a direct test of the validity of the method in this case by studying two-color QCD, where the sign problem is absent. The (pseudo)critical line is found to be analytic around $\mu^2 = 0$, but a very large precision would be needed at imaginary $\mu$ to correctly predict the location of the critical line at real $\mu$.Comment: Replaced with the version accepted for publication as a Rapid Communication in Physical Review D