Epileptic Spasms in Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms. Epileptic spasms were observed in patients with ALG1-, ALG6, ALG11-CDG and CDG-Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months. In this patient, spasms had an unusual aspect; they did not occur in clusters and were immediately preceded by a myoclonus. All but one child also presented rare myoclonias. On EEG, background activity was poorly organized with abundant posterior spike and fast rhythm activity, but without hypsarrhythmia. At the last evaluation (age range: 6-12 years), two patients still presented epileptic spasms and subcortical myoclonias, one showed rare generalized tonic-clonic seizures, and two were seizure-free. CDG disorders can be associated with epileptic spasms showing particular features, such as absence of hypsarrhythmia, posterior EEG anomalies, and an unusual combination of epileptic spasms with myoclonus. These features, associated with pre-existing developmental delay and subcortical myoclonias, may shift toward CDG screening. [Published with video sequence and supplemental EEG plates on www.epilepticdisorders.com].info:eu-repo/semantics/publishedVersio

Androgen up-regulates vascular endothelial growth factor expression in prostate cancer cells via an Sp1 binding site

Background\ud Vascular Endothelial Growth Factor (VEGF) is regulated by a number of different factors, but the mechanism(s) behind androgen-mediated regulation of VEGF in prostate cancer are poorly understood.\ud \ud Results\ud Three novel androgen receptor (AR) binding sites were discovered in the VEGF promoter and in vivo binding of AR to these sites was demonstrated by chromatin immunoprecipitation. Mutation of these sites attenuated activation of the VEGF promoter by the androgen analog, R1881 in prostate cancer cells. The transcription factors AR and Sp1 were shown to form a nuclear complex and both bound the VEGF core promoter in chromatin of hormone treated CWR22Rv1 prostate cancer cells. The importance of the Sp1 binding site in hormone mediated activation of VEGF expression was demonstrated by site directed mutagenesis. Mutation of a critical Sp1 binding site (Sp1.4) in the VEGF core promoter region prevented activation by androgen. Similarly, suppression of Sp1 binding by Mithramycin A treatment significantly reduced VEGF expression.\ud \ud Conclusions\ud Our mechanistic study of androgen mediated induction of VEGF expression in prostate cancer cells revealed for the first time that this induction is mediated through the core promoter region and is dependent upon a critical Sp1 binding site. The importance of Sp1 binding suggests that therapy targeting the AR-Sp1 complex may dampen VEGF induced angiogenesis and, thereby, block prostate cancer progression, helping to maintain the indolent form of prostate cancer

Superdeformed rotational bands in Pu-240

The intermediate structure of the fission resonances has been observed in Pu-240. A resonance structure found around the excitation energy of 4.5 MeV was interpreted as a group of K-pi = 0(+) superdeformed rotational bands. The moments of inertia and level density distributions were also deduced for the individually observed band-heads

Chia-Yang Chen, clarinet

Max RegerKrzysztof PendereckiPaul PierneRoberto SierraGeorge Gershwi

Bathymetry Beneath Ice Shelves of Western Dronning Maud Land, East Antarctica, and Implications on Ice Shelf Stability

Antarctica's ice shelves play a key role in stabilizing the ice streams that feed them. Since basal melting largely depends on ice-ocean interactions, it is vital to attain consistent bathymetry models to estimate water and heat exchange beneath ice shelves. We have constructed bathymetry models beneath the ice shelves of western Dronning Maud Land by inverting airborne gravity data and incorporating seismic, multibeam, and radar depth references. Our models reveal deep glacial troughs beneath the ice shelves and terminal moraines close to the continental shelf breaks, which currently limit the entry of Warm Deep Water from the Southern Ocean. The ice shelves buttress a catchment that comprises an ice volume equivalent to nearly 1 m of eustatic sea level rise, partly susceptible to ocean forcing. Changes in water temperature and thermocline depth may accelerate marine-based ice sheet drainage and constitute an underestimated contribution to future global sea level rise

Modern agglutinated foraminifera from the Hovgård ridge, fram strait, west of Spitsbergen: Evidence for a deep bottom current

Deep-water agglutinated foraminifera on the crest of the Hovgârd Ridge, west of Spitsbergen, consist mostly of large tubular astrorhizids. At a boxcore station collected from the crest of Hovgârd Ridge at a water depth of 1169 m, the sediment surface was covered with patches of large (1 mm diameter) tubular forms, belonging mostly to the species Astrorhiza crassatina Brady, with smaller numbers of Saccorhiza, Hyperammina, and Psammosiphonella. Non-tubutar species consisted mainly of opportunistic forms, such as Psammosphaera and Reophax. The presence of large suspension-feeding tubular genera as well as opportunistic forms point to the presence of deep currents at this locality that are strong enough to disturb the benthic fauna. This is confirmed by data obtained from sediment echosounding, which exhibit lateral variation in relative sedimentation rates within the Pleistocene sedimentary drape covering the ridge, indicative of winnowing in a south-easterly direction

Resonant tunneling through the triple-humped fission barrier of U-236

The fission probability of U-236 as a function of the excitation energy has been measured with high energy resolution using the U-235(d, pf) reaction in order to study hyperdeformed (HD) rotational bands. Rotational band structures with a moment of inertia of theta = 217 +/- 38 h(2)/MeV have been observed, corresponding to hyperdeformed configurations. From the level density of the rotational bands the excitation energy of the ground state in the third minimum was determined to be 2.7 +/- 0.4 MeV. The excitation energy of the lowest hyperdeformed transmission resonance and the energy dependence of the fission isomer population probability enabled the determination of the height of the inner fission barrier E-A = 5.05 +/- 0.20 MeV and its curvature parameter h omega(A) = 1.2 MeV. Using this new method the long-standing uncertainties in determining the height of the inner potential barrier in uranium isotopes could be resolved. (c) 2005 Elsevier B.V. All rights reserved

On the excitation energy of the ground state in the third minimum of U-234

The U-233(d,pf)U-234 reaction has been studied with high energy resolution. The observed fission resonances in the excitation energy range of 4.75 less than or equal to E* less than or equal to 5.40 MeV were described as members of rotational bands with rotational parameters characteristic to the hyperdeformed nuclear shape ((h) over bar(2)/2 theta = 2.1 +/- 0.2 keV). Information on the K values of the bands has been obtained from fission fragment angular distribution measurements. The level density of the most strongly excited J = 3 states has been compared to the prediction of the back-shifted Fermi-gas formula and the energy of the ground state in the third minimum has been estimated to be E-III = 3.1 +/- 0.4 Me