Tritium-Metal Interaction in Various First Wall Materials

A COMPARISON OF THE BEHAVIOUR OF TRITIUM IN VARIOUS FIRST WALL MATERIALS AND IN A NET-III GEOMETRY IS PRESENTED IN THIS WORK. A COMPUTER PROGRAM BASED ON THE FORMALISM OF THE PIDAT-CODE AND INCLUDING A TEMPERATURE GRADIENT IN THE WALL AND THE SORET-EFFECT HAS BEEN USED FOR THE CALCULATION OF THE TRITIUM PROPERTIES IN THE FIRST WALL. THE CALCULATED PROPERTIES ARE THE TRITIUM INVENTORY IN THE WALL, THE PERMEATION OF TRITIUM THROUGH THE WALL INTO THE COOLANT, THE RECYCLING OF TRITIUM DURING OPERATION AND THE OUT-GASSING OF TRITIUM DURING DWELL-TIME OR AFTER SHUTDOWN. THE DEVELOPMENT OF THESE PROPERTIES IN TIME FOR DIFFERENT SCENARIOS (WITH AND WITHOUT TRAPS, AT DIFFERENT TEMPERATURE GRADIENTS IN THE WALL, AT DIFFERENT SURFACE CLEANLINESS) ARE PRESENTED. THE STEADY-STATE TRITIUM INVENTORY AND PERMEATION IN THE FIRST WALL AND THE TIME TO REACH 90% OF THE STEADY-STATE ARE REPORTED. THE VARIOUS FIRST WALL MATERIALS INVESTIGATED IN THIS REPORT ARE STAINLESS STEEL AISI 316L, AISI 316L COATED WITH ALPHA-SIC OF 1 MM THICKNESS, AISI 316L PROTECTED WITH GRAPHITE TILES OF 1 CM THICKNESS, MOLYBDENUM, ALUMINIUM, VANADIUM. THE PARTICULARIETIES OF THE TRITIUM BEHAVIOUR IN THESE MATERIALS ARE DISCUSSED.NA-NOT AVAILABL

Comparison of dust transport modelling codes in a tokamak plasma

Since the installation on the Joint European Torus of the ITER-like Wall (ILW), intense radiation spikes have been observed, especially in the discharges following a disruption, and have been associated with possible sudden injection of tungsten (W) impurities consequent to full ablation of W dust particles. The problem of dust production, mobilization, and interaction both with the plasma and the vessel tiles is therefore of great concern and requires the setting up of dedicated and validated numerical modeling tools. Among these, a useful role is played by the dust trajectory calculators, which can present in a relatively clear way the qualitative and quantitative description of the mobilization and fate of selected bunches of dust grains

Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction

International audienceCornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of eleven patients carrying ten distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features. The phenotype of our patients is very broad whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X-inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counselling and risk predictio

Phenotypes and genotypes in individuals with SMC1A variants

SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self-injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin gene

Development, behaviour and autism in individuals with SMC1A variants

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Comparison of dust transport modelling codes in a tokamak plasma

Since the installation on the Joint European Torus of the ITER-like Wall (ILW), intense radiation spikes have been observed, especially in the discharges following a disruption, and have been associated with possible sudden injection of tungsten (W) impurities consequent to full ablation of W dust particles. The problem of dust production, mobilization, and interaction both with the plasma and the vessel tiles is therefore of great concern and requires the setting up of dedicated and validated numerical modeling tools. Among these, a useful role is played by the dust trajectory calculators, which can present in a relatively clear way the qualitative and quantitative description of the mobilization and fate of selected bunches of dust grains