For the past several years, the JET scientific programme (Pamela et al 2007 Fusion Eng. Des. 82 590) has been engaged in a multi-campaign effort, including experiments in D, H and T, leading up to ...2020 and the first experiments with 50%/50% D-T mixtures since 1997 and the first ever D-T plasmas with the ITER mix of plasma-facing component materials. For this purpose, a concerted physics and technology programme was launched with a view to prepare the D-T campaign (DTE2). This paper addresses the key elements developed by the JET programme directly contributing to the D-T preparation. This intense preparation includes the review of the physics basis for the D-T operational scenarios, including the fusion power predictions through first principle and integrated modelling, and the impact of isotopes in the operation and physics of D-T plasmas (thermal and particle transport, high confinement mode (H-mode) access, Be and W erosion, fuel recovery, etc). This effort also requires improving several aspects of plasma operation for DTE2, such as real time control schemes, heat load control, disruption avoidance and a mitigation system (including the installation of a new shattered pellet injector), novel ion cyclotron resonance heating schemes (such as the three-ions scheme), new diagnostics (neutron camera and spectrometer, active Alfvèn eigenmode antennas, neutral gauges, radiation hard imaging systems...) and the calibration of the JET neutron diagnostics at 14 MeV for accurate fusion power measurement. The active preparation of JET for the 2020 D-T campaign provides an incomparable source of information and a basis for the future D-T operation of ITER, and it is also foreseen that a large number of key physics issues will be addressed in support of burning plasmas.
Abstract The secondary dystroglycanopathies are a recessively inherited diverse group of muscular dystrophies ranging in severity from congenital onset with severe cobblestone lissencephaly ...(Walker-Warburg Syndrome) to milder forms of limb girdle muscular dystrophy (LGMD). Their hallmark is the reduction of alpha-dystroglycan (ADG) glycosylation and an important part of this glycosylation is a unique O-mannosylation which regulates the interaction between ADG and extracellular matrix proteins including laminin alpha 2, perlecan and agrin. The genetic aetiologies of approximately 50% of the dystroglycanopathies have been attributed to nine genes that are involved in ADG glycosylation. Despite collaborative efforts of several international groups using traditional positional cloning, the causative genes for the unsolved dystroglycanopathy cases had escaped discovery. Recently bi-allelic loss of function mutations in the isoprenoid synthase domain containing (ISPD) have been described in Walker-Warburg syndrome. In a collaborative study with the UK10K Rare Disease Project from the Sanger Institute, using whole exome sequencing techniques, we have now discovered that mutations in ISPD are found in a significant proportion of ADG patients. The mutations identified are milder mutations, and the phenotype of affected patients ranges from muscle-eye-brain like disorders, to congenital muscular dystrophy without brain involvement and to limb girdle muscular dystrophy with or without evidence of brain involvement. While in eubacteria and in choloroblasts of higher plants ISPD orthologues are involved in the synthesis of isoprenoid precursors, this pathway is absent in eukaryotes and vertebrates and; therefore, the function of ISPD remains unknown. The mechanism of ISPD mutations leading to reduction of ADG glycosylation needs to be uncovered; however, our ongoing screening shows that ISPD mutations are a common cause of dystroglycanopathies.
Abstract CARE-NMD is an EU-funded project to improve care for patients with Durchenne Muscular Dystrophy (DMD). The analysis of the current care practice is the first step to identify gaps and to ...plan specific measures such as training sessions for professionals and workshops for patients. For this purpose, a large cross-sectional patient-survey about the received care and quality of life of patients with DMD has been performed since September 2011 in seven European countries: Bulgaria, Czech Republic, Denmark, Germany, Hungary, Poland and the United Kingdom. A total of 1,677 patients with Duchenne Muscular Dystrophy have received questionnaires via the national patient registries. For the assessment of quality of care we defined outcome and process indicators. Outcome indicators include stage of the disease, age at loss of ambulation, ability to sit, number of hospitalisations, cardiac and pulmonary function and age at diagnosis. Process indicators comprise the frequency of medical assessments and received treatment, e.g. the use of corticosteroids, non-invasive ventilation and assistive devices. By March 31st 1,093 of 1,677 patients/families responded (66 percent). Response by country were: Bulgaria 45/73, Czech Republic 92/191, Denmark 92/131, Germany 440/545, Hungary 62/70, Poland 137/246, and for United Kingdom 223/421. Key findings about health status, received treatment, and quality of life of patients with DMD in Europe will be presented. This is the largest ever cross-sectional survey of the care and quality of life of people with DMD. The final results will provide detailed insight into the current situation of people with DMD in Europe and help to identify gaps to further improve the situation of affected patients and families.
The aim of this study is to report the clinical course, effectiveness, and safety of glaucoma drainage implants (Molteno and Baerveldt devices) in primary and secondary childhood glaucomas refractory ...to conventional surgical treatments and medical therapy.
This retrospective study included 76 children (76 eyes) younger than 18 years who underwent glaucoma drainage device (GDD) implantation in our clinic between 1990 and 2004. The mean age at time of surgery was 6.9+/-5.3 years (range: 4 months to 17.5 years). Intraocular pressure (IOP), visual acuity, corneal diameter, axial length, intraoperative and postoperative complications, and number of glaucoma medications were evaluated. Criteria for success were defined as IOP between 7 and 22 mmHg with or without glaucoma medications, no further glaucoma surgery, the absence of visually threatening complications, and no loss of light perception. Results were compared for children with primary and secondary glaucomas. The mean follow-up was 7.1+/-6.5 years (range: 1.6 to 15.2 years).
Mean preoperative and postoperative IOP was 33.6+/-11.4 mmHg and 17.1+/-6.5 mmHg (p<0.001), respectively. Kaplan-Meier survival analysis showed cumulative probability of success: 93% at 6 months, 91% at 1 year, 82% at 2 years, 76% at 3 years, 71% at 4 years, 67% at 5 years, and 65% at 6 years. There was no difference between patients with primary (n=31 eyes) and secondary glaucoma (n=45 eyes) in terms of cumulative success (p=0.186), final IOP, number of medications, or length of follow-up. On average, the GDI surgery was successful for a mean period of 6.7 years. Fourteen eyes of 76 (18.4%) failed: 10 eyes with uncontrolled IOP, 2 eyes with retinal detachment, and 2 eyes with no light perception. Statistical regression model did not show influence of gender and previous surgery. Lower age at the time of surgery was found to be associated with higher probability of treatment failure.
Molteno and Baerveldt glaucoma drainage implants surgery seems to be safe and effective treatment for primary and secondary pediatric glaucoma refractory to the initial surgical procedure and medical therapy.
Abstract
The presented work shows a systematic study of the temporal characteristics of ELM events on the COMPASS divertor obtained with high temporal resolution probe measurements (∼1
μ
s). The ...resulting temporal evolution of the total ELM power on the outer target provides the values of rise (
τ
rise
) and decay (
τ
decay
) times for each single ELM event. It has been found that
τ
rise
values are in the range of about 50
μ
s–100
μ
s. These values are comparable to the time of the ELM parallel propagation (
τ
||
) given by the sound speed and the connection length between the outer midplane and the outboard divertor. This comparison indicates that the magnetic field lines in the SOL region are not significantly ergodized during the pedestal crash on COMPASS. It also implies that the peak ELM energy fluence on the outboard divertor is dominated by the ELM parallel transport, which is confirmed by a good agreement with model prediction. In addition, the values of the ratio of
τ
decay
and
τ
rise
for each ELM event fit very well to the boundaries 1.5 <
τ
decay
/
τ
rise
< 4, as already shown on JET as well as on the HL-2A tokamak, using IR measurements. The ratio does not show any clear dependence on the relative ELM energy or line averaged electron density. It was also found that the ELM energy fluence decay length (
λ
ϵ
mid
) is clearly linked to this ratio.
This contribution aims to improve existing scalings of the L-mode power decay length λqomp, especially for plasma configurations with strike points at the ITER-relevant location-closed vertical ...divertor targets. We propose 13 new λqomp scalings based on data from the tokamaks JET, EAST, MAST, Alcator C-mod and COMPASS, and validate them against the output of the 2D turbulence code HESEL. The analysis covers 500 divertor heat flux profiles (obtained by probes or IR cameras), measured in L-mode discharges with varying 12 global plasma parameters (all well predictable). We find that the two previously published scalings (Eich 2013 J. Nucl. Mat. 438 S72) and (Scarabosio 2013 J. Nucl. Mat. 438 S426), which were based on outer target data from AUG and JET, describe the JET, C-mod and COMPASS profiles well. This holds not only at the outer horizontal and vertical targets, but surprisingly also at the inner vertical targets. In contrast, EAST, HESEL and especially MAST data are poorly described by these two scalings. We therefore derive 13 new scalings, which account for 85-92 % of the measured λqomp variability across all five tokamaks. Although each of the scalings is based on a different parameter combination, their predictions for the ITER and COMPASS-Upgrade tokamaks are very similar. Just before the L-H transition in the ITER baseline scenario, the presented scalings predict values λqomp=3.0±0.5 mm. For the COMPASS-Upgrade tokamak, all the scalings predict λqomp=2.1±0.5 mm with a single exception of the scaling based on the stored plasma energy which predicts only 1.2 mm for both tokamaks. We encourage the reader to use as many of these scalings as possible, depending on available data. In attached plasma and using significant assumptions, our results imply steady-state surface-perpendicular heat flux around 10 MW/m2 for ITER, and 20 MW/m2 for COMPASS-Upgrade.
To evaluate the spectrum and time profile of electrophysiological parameters in the detection of neuromuscular involvement in critically ill patients and establish their correlation with biopsy ...findings.
Prospective clinical and neurophysiological study.
One general and one neurological intensive care unit in a university hospital.
Forty-six critically ill patients with failure of at least two organ systems were enrolled and completed the 1-month follow up.
Detailed clinical and electrophysiological evaluation including direct muscle stimulation was performed in all cases on entry and at the end of the follow-up. Muscle biopsy was performed in 11, and sural nerve biopsy in 5, cases.
Electrophysiological signs of new or progressing neuromuscular involvement at the end of the first month were detected in 26 patients (56%) and could be classified into three groups: "pure motor syndrome" (12 cases), combined motor syndrome and sensory polyneuropathy (13 cases) and isolated sensory polyneuropathy (1 case). Direct muscle stimulation showed decreased muscle membrane excitability in 11 of these abnormal cases. Muscle biopsy disclosed various myopathic abnormalities in all 11 cases examined with motor syndrome, in 7 of them in association with denervation/re-innervation changes.
Electrophysiological and histological examinations showed significant overlapping of several pathogenic components of neuromuscular involvement in critically ill patients, namely decreased muscle excitability, myopathy, axonal motor neuropathy and sensory neuropathy. The characterisation of the electrophysiological components of a complex polyneuromyopathy is preferred to the strict categorisation of abnormalities into critical illness myopathy and polyneuropathy.
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