Atteintes Oculaires Au Cours Du Syndrome De Wolfram À Propos De Deux Cas Et Revue De La Littérature

Introduction: Wolfram syndrome is an autosomal recessive neurodegenerative disorder. Diabetes mellitus and juvenile bilateral optic atrophy are its major signs. It is recognized that this association, which started in childhood or during adolescence, is sufficient to diagnose Wolfram syndrome. Optic atrophy occurs in 98% to 100% of cases with an average age of onset of 11 years. We reported a study of two confirmed cases referred by the internal medicine department. Observations: Case 1: A 23- year-old woman, deaf and dumb by birth, went through a diabetic ketosis test. Ophthalmologic examination showed reduced visual acuity in the fingers at 5 meters P2 in both eyes. Also, the fundus of the eye showed bilateral atrophic papillary palpation with no signs of retinopathy. She had deafness of deep perception and hypogonadotropic hypogonadism. Deafness, diabetes, optic atrophy, and hypogonadism led to the diagnosis. Case 2: A 21-year-old man born from a first-degree consanguineous marriage serves as a supplement to the management of diabetes. The visual acuity was at counting fingers at 1m to the right eye and sees the hand move to 0.5 m to the left eye. On examination at the slit lamp, it had a bilateral dense cataract. After phacoexeresis, the base revealed bilateral optic atrophy. Ultrasound of the urinary tree showed hypotonia of the renal cavities and a neurogenic bladder. Also, audiometry showed mild sensory deafness. The diagnosis of Wolfram syndrome was made in front of the tetrad: diabetes, optic atrophy, deafness, and urinary signs. Discussion: Wolfram syndrome may be familial or sporadic. The gene however is located on the short arm of chromosome 4. Optic atrophy is secondary to the involvement of pre-genetic fibers, and it is characterized initially by temporal palpation of the papilla. The evolution towards diffuse whitish discoloration occurs in a few months or years with the gradual establishment of a blindness around the age of 17 to 30 years. Conclusion: Wolfram syndrome is a clinical entity characterized by clinical and genetic polymorphism. This diagnosis should be considered in the presence of any type I diabetes associated with optic atrophy in childre

Enhancement of the Nernst effect by stripe order in a high-Tc superconductor

The Nernst effect in metals is highly sensitive to two kinds of phase transition: superconductivity and density-wave order. The large positive Nernst signal observed in hole-doped high-Tc superconductors above their transition temperature Tc has so far been attributed to fluctuating superconductivity. Here we show that in some of these materials the large Nernst signal is in fact caused by stripe order, a form of spin / charge modulation which causes a reconstruction of the Fermi surface. In LSCO doped with Nd or Eu, the onset of stripe order causes the Nernst signal to go from small and negative to large and positive, as revealed either by lowering the hole concentration across the quantum critical point in Nd-LSCO, or lowering the temperature across the ordering temperature in Eu-LSCO. In the latter case, two separate peaks are resolved, respectively associated with the onset of stripe order at high temperature and superconductivity near Tc. This sensitivity to Fermi-surface reconstruction makes the Nernst effect a promising probe of broken symmetry in high-Tc superconductors

Broken rotational symmetry in the pseudogap phase of a high-Tc superconductor

The nature of the pseudogap phase is a central problem in the quest to understand high-Tc cuprate superconductors. A fundamental question is what symmetries are broken when that phase sets in below a temperature T*. There is evidence from both polarized neutron diffraction and polar Kerr effect measurements that time- reversal symmetry is broken, but at temperatures that differ significantly. Broken rotational symmetry was detected by both resistivity and inelastic neutron scattering at low doping and by scanning tunnelling spectroscopy at low temperature, but with no clear connection to T*. Here we report the observation of a large in-plane anisotropy of the Nernst effect in YBa2Cu3Oy that sets in precisely at T*, throughout the doping phase diagram. We show that the CuO chains of the orthorhombic lattice are not responsible for this anisotropy, which is therefore an intrinsic property of the CuO2 planes. We conclude that the pseudogap phase is an electronic state which strongly breaks four-fold rotational symmetry. This narrows the range of possible states considerably, pointing to stripe or nematic orders.Comment: Published version. Journal reference and DOI adde

Towards a consistent picture for quasi-1D organic superconductors

The electrical resistivity of the quasi-1D organic superconductor (TMTSF)2PF6 was recently measured at low temperature from the critical pressure needed to suppress the spin-density-wave state up to a pressure where superconductivity has almost disappeared. This data revealed a direct correlation between the onset of superconductivity at Tc and the strength of a non-Fermi-liquid linear term in the normal-state resistivity, going as r(T) = r0 + AT + BT2 at low temperature, so that A goes to 0 as Tc goes to 0. Here we show that the contribution of low-frequency antiferromagnetic fluctuations to the spin-lattice relaxation rate is also correlated with this non-Fermi-liquid term AT in the resistivity. These correlations suggest that anomalous scattering and pairing have a common origin, both rooted in the low-frequency antiferromagnetic fluctuations measured by NMR. A similar situation may also prevail in the recently-discovered iron-pnictide superconductors.Comment: ISCOM'09 proceedings to be published in Physica

Nernst and Seebeck Coefficients of the Cuprate SuperconductorYBa2_2Cu3_3O6.67_{6.67}: A Study of Fermi Surface Reconstruction

The Seebeck and Nernst coefficients $S$ and $\nu$ of the cuprate superconductor YBa$_2$Cu$_3$O$_y$ (YBCO) were measured in a single crystal with doping $p = 0.12$ in magnetic fields up to H = 28 T. Down to T=9 K, $\nu$ becomes independent of field by $H \simeq 30$ T, showing that superconducting fluctuations have become negligible. In this field-induced normal state, $S/T$ and $\nu/T$ are both large and negative in the $T \to 0$ limit, with the magnitude and sign of $S/T$ consistent with the small electron-like Fermi surface pocket detected previously by quantum oscillations and the Hall effect. The change of sign in $S(T)$ at $T \simeq 50$ K is remarkably similar to that observed in La$_{2-x}$Ba$_x$CuO$_4$, La$_{2-x-y}$Nd$_y$Sr$_x$CuO$_4$ and La$_{2-x-y}$Eu$_y$Sr$_x$CuO$_4$, where it is clearly associated with the onset of stripe order. We propose that a similar density-wave mechanism causes the Fermi surface reconstruction in YBCO.Comment: Final version accepted for publication in Phys. Rev. Lett. New title, shorter abstract, minor revision of text and added reference

Lifshitz critical point in the cuprate superconductor YBa2Cu3Oy from high-field Hall effect measurements

The Hall coefficient R_H of the cuprate superconductor YBa2Cu3Oy was measured in magnetic fields up to 60 T for a hole concentration p from 0.078 to 0.152, in the underdoped regime. In fields large enough to suppress superconductivity, R_H(T) is seen to go from positive at high temperature to negative at low temperature, for p > 0.08. This change of sign is attributed to the emergence of an electron pocket in the Fermi surface at low temperature. At p < 0.08, the normal-state R_H(T) remains positive at all temperatures, increasing monotonically as T \to 0. We attribute the change of behaviour across p = 0.08 to a Lifshitz transition, namely a change in Fermi-surface topology occurring at a critical concentration p_L = 0.08, where the electron pocket vanishes. The loss of the high-mobility electron pocket across p_L coincides with a ten-fold drop in the conductivity at low temperature, revealed in measurements of the electrical resistivity $\rho$ at high fields, showing that the so-called metal-insulator crossover of cuprates is in fact driven by a Lifshitz transition. It also coincides with a jump in the in-plane anisotropy of $\rho$, showing that without its electron pocket the Fermi surface must have strong two-fold in-plane anisotropy. These findings are consistent with a Fermi-surface reconstruction caused by a unidirectional spin-density wave or stripe order.Comment: 16 pages, 13 figures, see associated Viewpoint: M. Vojta, Physics 4, 12 (2011

The Lorenz ratio as a guide to scattering contributions to Planckian transport

In many physical situations in which many-body assemblies exist at temperature $T$, a characteristic quantum-mechanical time scale of approximately $\hbar/k_{B}T$ can be identified in both theory and experiment, leading to speculation that it may be the shortest meaningful time in such circumstances. When this behaviour is investigated by probing the scattering rate of strongly interacting electrons in metals, it is clear that in some cases only electron-electron scattering can be its cause, while in others it arises from high-temperature scattering of electrons from quantised lattice vibrations, i.e. phonons. In metallic oxides, which are among the most studied materials, analysis of electrical transport does not satisfactorily identify the relevant scattering mechanism at 'high' temperatures near room temperature. We employ a contactless optical method to measure thermal diffusivity in two Ru-based layered perovskites, Sr$_3$Ru$_2$O$_7$ and Sr$_2$RuO$_4$, and use the measurements to extract the dimensionless Lorenz ratio. By comparing our results to the literature data on both conventional and unconventional metals we show how the analysis of high-temperature thermal transport can both give important insight into dominant scattering mechanisms, and be offered as a stringent test of theories attempting to explain anomalous scattering.Comment: 27 pages, 8 figure

Linear-T resistivity and change in Fermi surface at the pseudogap critical point of a high-Tc superconductor

A fundamental question of high-temperature superconductors is the nature of the pseudogap phase which lies between the Mott insulator at zero doping and the Fermi liquid at high doping p. Here we report on the behaviour of charge carriers near the zero-temperature onset of that phase, namely at the critical doping p* where the pseudogap temperature T* goes to zero, accessed by investigating a material in which superconductivity can be fully suppressed by a steady magnetic field. Just below p*, the normal-state resistivity and Hall coefficient of La1.6-xNd0.4SrxCuO4 are found to rise simultaneously as the temperature drops below T*, revealing a change in the Fermi surface with a large associated drop in conductivity. At p*, the resistivity shows a linear temperature dependence as T goes to zero, a typical signature of a quantum critical point. These findings impose new constraints on the mechanisms responsible for inelastic scattering and Fermi surface transformation in theories of the pseudogap phase.Comment: 24 pages, 6 figures. Published in Nature Physics. Online at http://www.nature.com/nphys/journal/vaop/ncurrent/full/nphys1109.htm