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

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

Specialist laboratory networks as preparedness and response tool - The emerging viral diseases-expert laboratory network and the chikungunya outbreak, Thailand, 2019

We illustrate the potential for specialist laboratory networks to be used as preparedness and response tool through rapid collection and sharing of data. Here, the Emerging Viral Diseases-Expert Laboratory Network (EVD-LabNet) and a laboratory assessment of chikungunya virus (CHIKV) in returning European travellers related to an ongoing outbreak in Thailand was used for this purpose. EVD-LabNet rapidly collected data on laboratory requests, diagnosed CHIKV imported cases and sequences generated, and shared among its members and with the European Centre for Disease Prevention and Control. Data across the network showed an increase in CHIKV imported cases during 1 October 2018-30 April 2019 vs the same period in 2018 (172 vs 50), particularly an increase in cases known to be related to travel to Thailand (72 vs 1). Moreover, EVD-LabNet showed that strains were imported from Thailand that cluster with strains of the ECSA-IOL E1 A226 variant emerging in Pakistan in 2016 and involved in the 2017 outbreaks in Italy. CHIKV diagnostic requests increased by 23.6% between the two periods. The impact of using EVD-LabNet or similar networks as preparedness and response tool could be improved by standardisation of the collection, quality and mining of data in routine laboratory management systems