Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Oculodentodigital dysplasia is an autosomal dominant disorder due to variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to variants. Clinical disease severity was highly variable. Cerebral MR imaging revealed variable white matter abnormalities, consistent with a hypomyelination pattern, and bilateral hypointense signal of the basal ganglia on T2-weighted images and/or magnetic susceptibility sequences, as seen in neurodegeneration with brain iron accumulation diseases. Patients with the more prominent basal ganglia abnormalities were the most disabled ones. This study suggests that -related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration and a brain iron accumulation pattern

Constraints on Titan's middle atmosphere ammonia abundance from Herschel/SPIRE sub-millimetre spectra

Sub-millimetre spectra measured with Herschel's SPIRE Fourier Transform Spectrometer were used to search for ammonia (NH3) in Titan's stratosphere. Observations were taken during 2010 and 2011, just after Titan's northern spring equinox, which occurred in mid-2009. In our analysis we used high spectral resolution data (0.074 cm-1 apodised) from the SPIRE shortwave spectrometer array (SSW), which provided the best possible signal-to-noise ratio for detecting any NH3 emission features. These data have the most sensitivity to NH3 spectral emission of any currently available observations, although despite this we did not detect any significant emission features above the noise. However, we can place an improved 3-sigma upper limit on NH3 abundance of <0.19ppb for altitudes 65-110 km (75 km peak sensitivity), or alternatively a column abundance of <1.23×1015molecules/cm2. These observations provide modest constraint for future photochemical models and are consistent with most current stratospheric predictions. Scaling of photochemical model profiles, in order to fit elevated abundances observed at 1100 km by Cassini's INMS instrument, are for the most part also consistent with our observations. © 2012 Elsevier Ltd

IFE Plant Technology Overview and contribution to HiPER proposal

HiPER is the European Project for Laser Fusion that has been able to join 26 institutions and signed under formal government agreement by 6 countries inside the ESFRI Program of the European Union (EU). The project is already extended by EU for two years more (until 2013) after its first preparatory phase from 2008. A large work has been developed in different areas to arrive to a design of repetitive operation of Laser Fusion Reactor, and decisions are envisioned in the next phase of Technology Development or Risk Reduction for Engineering or Power Plant facilities (or both). Chamber design has been very much completed for Engineering phase and starting of preliminary options for Reactor Power Plant have been established and review here

Carbon-13 magic-angle spinning NMR studies of bathorhodopsin, the primary photoproduct of rhodopsin

Bio-organic Synthesi

How does fusion hindrance show up in medium-light systems? The case of 48Ca + 48Ca

The fusion excitation function of 48Ca + 48Ca has been measured above and well below the Coulomb barrier, thereby largely extending the energy range of a previous experiment down to very low cross sections. This system has a negative Q-value for compound nucleus formation. The fusion cross section decreases steadily below the barrier with no conspicuous change of slope below 300 μb. Coupled-channels calculations using a Woods–Saxon potential indicate that a large diffuseness parameter is needed to reproduce the sub-barrier cross sections. A close analogy with the case of 36S + 48Ca, with Q>0, is pointed out. The sign of the Q-value does not influence fusion cross sections down to the 300–600 nb leve

Delayed gastric emptying and reduced postprandial small bowel water content of equicaloric whole meal bread versus rice meals in healthy subjects: novel MRI insights

BACKGROUND/OBJECTIVES: Postprandial bloating is a common symptom in patients with functional gastrointestinal (GI) diseases. Whole meal bread (WMB) often aggravates such symptoms though the mechanisms are unclear. We used magnetic resonance imaging (MRI) to monitor the intragastric fate of a WMB meal (11% bran) compared to a rice pudding (RP) meal. SUBJECTS/METHODS: 12 healthy volunteers completed this randomised crossover study. They fasted overnight and after an initial MRI scan consumed a glass of orange juice with a 2267 kJ WMB or an equicaloric RP meal. Subjects underwent serial MRI scans every 45 min up to 270 min to assess gastric volumes and small bowel water content and completed a GI symptom questionnaire. RESULTS: The MRI intragastric appearance of the two meals was markedly different. The WMB meal formed a homogeneous dark bolus with brighter liquid signal surrounding it. The RP meal separated into an upper, liquid layer and a lower particulate layer allowing more rapid emptying of the liquid compared to solid phase (sieving). The WMB meal had longer gastric half emptying times (132±8 min) compared to the RP meal (104±7 min), P<0.008. The WMB meal was associated with markedly reduced MRI-visible small bowel free mobile water content compared to the RP meal, P<0.0001. CONCLUSIONS: WMB bread forms a homogeneous bolus in the stomach which inhibits gastric sieving and hence empties slower than the equicaloric rice meal. These properties may explain why wheat causes postprandial bloating and could be exploited to design foods which prolong satiation

Specific antibodies to Anopheles gSG6-P1 salivary peptide to assess early childhood exposure to malaria vector bites

Background: The estimates of risk of malaria in early childhood are imprecise given the current entomologic and parasitological tools. Thus, the utility of anti-Anopheles salivary gSG6-P1 peptide antibody responses in measuring exposure to Anopheles bites during early infancy has been assessed. Methods: Anti-gSG6-P1 IgG and IgM levels were evaluated in 133 infants (in Benin) at three (M3), six (M6), nine (M9) and 12 (M12) months of age. Specific IgG levels were also assessed in their respective umbilical cord blood (IUCB) and maternal blood (MPB). Results: At M3, 93.98 and 41.35% of infants had anti-gSG6-P1 IgG and IgM Ab, respectively. Specific median IgG and IgM levels gradually increased between M3 and M6 (p < 0.0001 and p < 0.001), M6-M9 (p < 0.0001 and p = 0.085) and M9-M12 (p = 0.002 and p = 0.03). These levels were positively associated with the Plasmodium falciparum infection intensity (p = 0.006 and 0.003), and inversely with the use of insecticide-treated bed nets (p = 0.003 and 0.3). Levels of specific IgG in the MPB were positively correlated to those in the IUCB (R = 0.73; p < 0.0001) and those at M3 (R = 0.34; p < 0.0001). Conclusion: The exposure level to Anopheles bites, and then the risk of malaria infection, can be evaluated in young infants by assessing anti-gSG6-P1 IgM and IgG responses before and after 6-months of age, respectively. This tool can be useful in epidemiological evaluation and surveillance of malaria risk during the first year of life

Deformation of the N=Z nucleus 76Sr using beta-decay studies

A novel method of deducing the deformation of the N=Z nucleus 76Sr is presented. It is based on the comparison of the experimental Gamow-Teller strength distribution B(GT) from its beta decay with the results of QRPA calculations. This method confirms previous indications of the strong prolate deformation of this nucleus in a totally independent way. The measurement has been carried out with a large Total Absorption gamma Spectrometer, "Lucrecia", newly installed at CERN-ISOLDE.Comment: Accepted in Phys. Rev. Letter

Binary reaction decays from 24Mg+12C

Charged particle and gamma decays in 24Mg* are investigated for excitation energies where quasimolecular resonances appear in 12C+12C collisions. Various theoretical predictions for the occurence of superdeformed and hyperdeformed bands associated with resonance structures with low spin are discussed within the measured 24Mg* excitation energy region. The inverse kinematics reaction 24Mg+12C is studied at E_lab(24Mg) = 130 MeV, an energy which enables the population of 24Mg states decaying into 12C+12C resonant break-up states. Exclusive data were collected with the Binary Reaction Spectrometer in coincidence with EUROBALL IV installed at the VIVITRON Tandem facility at Strasbourg. Specific structures with large deformation were selectively populated in binary reactions and their associated gamma decays studied. Coincident events associated with inelastic and alpha-transfer channels have been selected by choosing the excitation energy or the entry point via the two-body Q-values. The analysis of the binary reaction channels is presented with a particular emphasis on 24Mg-gamma, 20Ne-gamma and 16O-gamma coincidences. New information (spin and branching ratios) is deduced on high-energy states in 24Mg and 16O, respectively.Comment: 27 pages, 8 figures, 1 tabl

Reaction mechanisms in 24Mg+12C and 32S+24Mg

The occurence of "exotic" shapes in light N=Z alpha-like nuclei is investigated for 24Mg+12C and 32S+24Mg. Various approaches of superdeformed and hyperdeformed bands associated with quasimolecular resonant structures with low spin are presented. For both reactions, exclusive data were collected with the Binary Reaction Spectrometer in coincidence with EUROBALL IV installed at the VIVITRON Tandem facility of Strasbourg. Specific structures with large deformation were selectively populated in binary reactions and their associated $\gamma$-decays studied. The analysis of the binary and ternary reaction channels is discussed.Comment: 7 pages, 4 figures, Paper presented at the Fusion08 International Conference on New Aspects of Heavy Ion Collisions Near the Coulomb Barrier, Chicago. Proceedings to be published by AIP Conference Proceedings Illinois, USA, September 22-26, 200