Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation.

We present here the case histories of two siblings, a boy and a girl, with Leber's congenital amaurosis (LCA). The diagnosis was based on non-recordable full-field electroretinogram (ffERG). The long-term ophthalmologic follow-up included kinetic perimetry (Goldmann), visual evoked potentials with flash stimulation, optical coherence tomography (OCT: B-scan images at the area of fovea), and multifocal ERG.

Immunohistochemical Analysis of a Vitreous Membrane Removed from a Patient with Incontinentia Pigmenti-Related Retinal Detachment.

This is a case history of a 23-year-old woman suffering from incontinentia pigmenti (IP). The patient's vision in the left eye started to deteriorate due to cataract progression at the age of 22, and by the age of 23, it dropped from 0.9 to 0.

Giant microwave absorption in fine powders of superconductors.

Enhanced microwave absorption, larger than that in the normal state, is observed in fine grains of type-II superconductors (MgB and KC) for magnetic fields as small as a few % of the upper critical field. The effect is predicted by the theory of vortex motion in type-II superconductors, however its direct observation has been elusive due to skin-depth limitations; conventional microwave absorption studies employ larger samples where the microwave magnetic field exclusion significantly lowers the absorption. We show that the enhancement is observable in grains smaller than the penetration depth.

VEP and PERG in patients with multiple sclerosis, with and without a history of optic neuritis.

Purpose: Visual electrophysiology is routinely used to detect the visual complications of multiple sclerosis, but the analysis mostly focuses on visual evoked potential (VEP) and especially the P100 component. Our goal was to analyze the components and waveform alterations of VEPs and pattern electroretinograms (PERGs) in patients with multiple sclerosis (MS) with good vision.

Methods: The main VEP and PERG components of 85 patients with MS were analyzed in two groups: 38 patients who had optic neuritis in their history (ON group) and 47 patients who had never had optic neuritis (MS group).

[Ophthalmologic manifestations of Bardet-Biedl syndrome].

Introduction: Bardet-Biedl syndrome is characterised by retinal dystrophy, polydactily, obesity and slow mental development.

Aim: The aim of the authors was to present ophthalmologic signs and symptoms of the syndrome.

Method: Between 1980 and 2010, 4 children with Bardet-Biedl syndrome were evaluated at the Department of Ophthalmology, University of Szeged, Szeged, Hungary.

Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation.

Synaptic long-term potentiation (LTP) is a key mechanism involved in learning and memory, and its alteration is associated with mental disorders. Shank3 is a major postsynaptic scaffolding protein that orchestrates dendritic spine morphogenesis, and mutations of this protein lead to mental retardation and autism spectrum disorders. In the present study we investigated the role of a new Shank3-associated protein in LTP.

Spin-stretching modes in anisotropic magnets: spin-wave excitations in the multiferroic Ba2CoGe2O7.

We studied spin excitations in the magnetically ordered phase of the noncentrosymmetric Ba(2)CoGe(2)O(7) in high magnetic fields up to 33 T. In the electron spin resonance and far infrared absorption spectra we found several spin excitations beyond the two conventional magnon modes expected for such a two-sublattice antiferromagnet. We show that a multiboson spin-wave theory describes these unconventional modes, including spin-stretching modes, characterized by an oscillating magnetic dipole and quadrupole moment.

Achieving a cure for HIV infection: do we have reasons to be optimistic?

The introduction of highly active antiretroviral therapy (HAART) in 1996 has transformed a lethal disease to a chronic pathology with a dramatic decrease in mortality and morbidity of AIDS-related symptoms in infected patients. However, HAART has not allowed the cure of HIV infection, the main obstacle to HIV eradication being the existence of quiescent reservoirs. Several other problems have been encountered with HAART (such as side effects, adherence to medication, emergence of resistance and cost of treatment), and these motivate the search for new ways to treat these patients.

Human-Phosphate-Binding-Protein inhibits HIV-1 gene transcription and replication.

The Human Phosphate-Binding protein (HPBP) is a serendipitously discovered lipoprotein that binds phosphate with high affinity. HPBP belongs to the DING protein family, involved in various biological processes like cell cycle regulation. We report that HPBP inhibits HIV-1 gene transcription and replication in T cell line, primary peripherical blood lymphocytes and primary macrophages.

HIV-1 regulation of latency in the monocyte-macrophage lineage and in CD4+ T lymphocytes.

The introduction in 1996 of the HAART raised hopes for the eradication of HIV-1. Unfortunately, the discovery of latent HIV-1 reservoirs in CD4+ T cells and in the monocyte-macrophage lineage proved the optimism to be premature. The long-lived HIV-1 reservoirs constitute a major obstacle to the eradication of HIV-1.

Superionic conductivity in the Li4C60 fulleride polymer.

We report on the extraordinary superionic conductivity in the fulleride polymer Li4C60, a crystalline material with no disorder. 7Li, NMR, and dc frequency dependent conductivity show uncorrelated ionic hopping across small energy barriers (DeltaE_{a} approximately 200 meV) and an ionic conductivity of 10;{-2} S/cm at room temperature, higher than in "standard" ionic conductors. Ab initio calculations of the molecular structure find intrinsic unoccupied interstitial sites that can be filled by Li+ cations in stoichiometric Li4C60 even at low temperatures.

Spin diffusion and magnetic eigenoscillations confined to single molecular layers in the organic conductors kappa-(BEDT-TTF)2Cu[N(CN)2]X (X=Cl,Br).

The layered organic compounds, kappa-(BEDT-TTF)2Cu[N(CN)2]X X=Cl, Br) are metals at ambient temperatures. At low temperatures, the Cl compound is a weakly ferromagnetic Mott insulator while the isostructural Br compound is a superconductor. We find by conduction electron spin resonance and antiferromagnetic resonance (AFMR) an extreme anisotropy of spin transport and magnetic interactions in these materials.

Generalized Elliott-Yafet theory of electron spin relaxation in metals: origin of the anomalous electron spin lifetime in MgB2.

The temperature dependence of the electron-spin relaxation time in MgB2 is anomalous as it does not follow the resistivity above 150 K; it has a maximum around 400 K and decreases for higher temperatures. This violates the well established Elliot-Yafet theory of spin relaxation in metals. The anomaly occurs when the quasiparticle scattering rate (in energy units) is comparable to the energy difference between the conduction and a neighboring bands.

[Successful surgical removal of a mesencephalic cavernous angioma, which was responsible for progressive neurological deficits].

Cavernous angiomas comprise 5-10% of all vascular malformations in the central nervous system, occurring most frequently in the supratentorial region, and 20% of them in the brain stem. According to literature, brain stem cavernous angiomas occur most frequently in the pons (60%), and equally in the mesencephalon (20%) and in medulla oblongata. In clinical evaluation the authors describe the successful removal of a mesencephalic cavernous angioma causing progressive neurological deficits and symptoms.

Exchange protein activated by cAMP (Epac) mediates cAMP activation of p38 MAPK and modulation of Ca2+-dependent K+ channels in cerebellar neurons.

The exchange factor directly activated by cAMP (Epac) is a newly discovered direct target for cAMP and a guanine-nucleotide exchange factor for the small GTPase Rap. Little is known about the neuronal functions of Epac. Here we show that activation of Epac by specific cAMP analogs or by the pituitary adenylate cyclase-activating polypeptide induces a potent activation of the Ca2+-sensitive big K+ channel, slight membrane hyperpolarization, and increased after-hyperpolarization in cultured cerebellar granule cells.

Magnetic fullerenes inside single-wall carbon nanotubes.

C(59)N magnetic fullerenes were formed inside single-wall carbon nanotubes by vacuum annealing functionalized C(59)N molecules encapsulated inside the tubes. A hindered, anisotropic rotation of C(59)N was deduced from the temperature dependence of the electron spin resonance spectra near room temperature. Shortening of the spin-lattice relaxation time T(1) of C(59)N indicates a reversible charge transfer toward the host nanotubes above approximately 350 K.

Electron delocalization and dimerization in solid C59N doped C60 fullerene.

Electron spin resonance and ab initio electronic structure calculations show an intricate relation between molecular rotation and chemical bonding in the dilute solid solution. The unpaired electron of C59N is delocalized over several C60 molecules above 700 K, while at lower temperatures it remains localized within short range. The data suggest that below 350 K rigid C59N-C60 heterodimers are formed in thermodynamic equilibrium with dissociated rotating molecules.

A longitudinally detected high-field ESR spectrometer for the measurement of spin-lattice relaxation times.

We describe a high-field longitudinally detected electron spin resonance (LOD-ESR) spectrometer operating at 35 and 75 GHz. The lack of resonant microwave circuits facilitates operation at different microwave frequencies without changing the probehead. A very low noise radio frequency detection compensates partially the resulting low sensitivity.

Diagonal antiferromagnetic easy axis in lightly hole doped Y1-xCaxBa2Cu3O6.

Hole induced changes in the antiferromagnetic structure of a lightly Ca doped Gd:Y(1-x)CaxBa2Cu3O6 copper oxide single crystal with x approximately 0.008 is investigated by Gd3+ electron spin resonance. Holes do not localize to Ca2+ ions above 2.

Structure and Dynamics of a Trinuclear Gadolinium(III) Complex: The Effect of Intramolecular Electron Spin Relaxation on Its Proton Relaxivity(1).

The trinuclear [Gd(3)(H(-)(3)taci)(2)(H(2)O)(6)](3+) complex has been characterized in aqueous solution as a model compound from the point of view of MRI: the parameters that affect proton relaxivity have been determined in a combined variable temperature, pressure, and multiple-field (17)O NMR, EPR, and NMRD study. The solution structure of the complex was found to be the same as in solid state: the total coordination number of the lanthanide(III) ion is 8 with two inner-sphere water molecules. EPR measurements proved a strong intramolecular dipole-dipole interaction between Gd(III) electron spins.

Anisotropy of superconducting MgB2 as seen in electron spin resonance and magnetization data.

We observed the conduction electron spin resonance (CESR) in fine powders of MgB2 both in the superconducting and normal states. The Pauli susceptibility is chi(s) = 2.0 x 10(-5) emu/mole in the temperature range of 450 to 600 K.

Carbachol induces homologous steroidogenic refractoriness of bovine fasciculata-reticularis cells.

Recently it was shown that the cholinergic agonist carbachol stimulates cortisol production in bovine ZFR cells via muscarinic receptor M(3). In the present study, we investigated the effect of chronic cholinergic stimulation on steroidogenic response and muscarinic receptor regulation in ZFR cells. Cortisol secretion of ZFR cells treated with 10(-4) M of carbachol decreased in a dose- and time-dependent manner.

Magnetic-field-induced low-energy spin excitations in YBa(2)Cu(4)O(8) measured by high field Gd(3+) electron spin resonance.

We have measured the spin susceptibility, chi(s), of the CuO(2) planes in the underdoped high T(c) superconductor, YBa(2)Cu(4)O(8) by Gd(3+) electron spin resonance (ESR) in single crystals and aligned powders in fields up to 15.4 T. At low temperatures and high fields, chi(s) is enhanced slightly in the B parallel c orientation with respect to the B perpendicular c orientation.