Correction: Lung cancer multi-omics digital human avatars for integrating precision medicine into clinical practice: the LANTERN study

non

Corrigendum: Current drive at plasma densities required for thermonuclear reactors

Nature Communications 1: Article number: 55 (2010); Published: 10 August 2010; Updated:19 September 2013. In Fig. 3 of this Article, the colours of the blue and green curves were accidentally interchanged while the manuscript was being revised. In addition, the x axis labels on Fig. 4 should have read 'Frequency (MHz)'

Effect of the relative shift between the electron density and temperature pedestal position on the pedestal stability in JET-ILW and comparison with JET-C

The electron temperature and density pedestals tend to vary in their relative radial positions, as observed in DIII-D (Beurskens et al 2011 Phys. Plasmas 18 056120) and ASDEX Upgrade (Dunne et al 2017 Plasma Phys. Control. Fusion 59 14017). This so-called relative shift has an impact on the pedestal magnetohydrodynamic (MHD) stability and hence on the pedestal height (Osborne et al 2015 Nucl. Fusion 55 063018). The present work studies the effect of the relative shift on pedestal stability of JET ITER-like wall (JET-ILW) baseline low triangularity (\u3b4) unseeded plasmas, and similar JET-C discharges. As shown in this paper, the increase of the pedestal relative shift is correlated with the reduction of the normalized pressure gradient, therefore playing a strong role in pedestal stability. Furthermore, JET-ILW tends to have a larger relative shift compared to JET carbon wall (JET-C), suggesting a possible role of the plasma facing materials in affecting the density profile location. Experimental results are then compared with stability analysis performed in terms of the peeling-ballooning model and with pedestal predictive model EUROPED (Saarelma et al 2017 Plasma Phys. Control. Fusion). Stability analysis is consistent with the experimental findings, showing an improvement of the pedestal stability, when the relative shift is reduced. This has been ascribed mainly to the increase of the edge bootstrap current, and to minor effects related to the increase of the pedestal pressure gradient and narrowing of the pedestal pressure width. Pedestal predictive model EUROPED shows a qualitative agreement with experiment, especially for low values of the relative shift

Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in ELOVL4 gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed ELOVL4 homozygous frameshift variant c.435dupT (p.Ile146TyrfsTer29), and compound heterozygous variants c.208C>T (p.Arg70Ter) and c.487T>C (p.Cys163Arg), respectively. Both patients were born with collodion membrane followed by development of diffuse mild hyperkeratosis and scaling, localized erythema, and palmoplantar keratoderma. One infant displayed mild facial dysmorphism. They suffered from failure to thrive, and severe gastro-esophageal reflux with pulmonary aspiration. The patients presented axial hypotonia, hypertonia of limbs, and absent head control with poor eye contact from infancy. Visual evoked potentials showed markedly increased latency and poor morphological definition, indicative of alteration of the retro-retinal visual pathways in both patients. Ultrastructural skin examination revealed abnormalities of lamellar bodies with altered release in the epidermal granular and horny layer intracellular spaces. Our findings contribute to expanding the phenotypic and genotypic features of ELOVL4-related neuro-ichthyosis

Assessment of quasi-linear effect of RF power spectrum for enabling lower hybrid current drive in reactor plasmas

The main research on the energy from thermonuclear fusion uses deuterium plasmas magnetically trapped in toroidal devices. To suppress the turbulent eddies that impair thermal insulation and pressure tight of the plasma, current drive (CD) is necessary, but tools envisaged so far are unable accomplishing this task while efficiently and flexibly matching the natural current profiles self-generated at large radii of the plasma column [1-5]. The lower hybrid current drive (LHCD) [6] can satisfy this important need of a reactor [1], but the LHCD system has been unexpectedly mothballed on JET. The problematic extrapolation of the LHCD tool at reactor graded high values of, respectively, density and temperatures of plasma has been now solved. The high density problem is solved by the FTU (Frascati Tokamak Upgrade) method [7], and solution of the high temperature one is presented here. Model results based on quasi-linear (QL) theory evidence the capability, w.r.t linear theory, of suitable operating parameters of reducing the wave damping in hot reactor plasmas. Namely, using higher RF power densities [8], or a narrower antenna power spectrum in refractive index [9,10], the obstacle for LHCD represented by too high temperature of reactor plasmas should be overcome. The former method cannot be used for routinely, safe antenna operations, Thus, only the latter key is really exploitable in a reactor. The proposed solutions are ultimately necessary for viability of an economic reactor

Assessment of quasi-linear effect of RF power spectrum for enabling lower hybrid current drive in reactor plasmas

The main research on the energy from thermonuclear fusion uses deuterium plasmas magnetically trapped in toroidal devices. To suppress the turbulent eddies that impair thermal insulation and pressure tight of the plasma, current drive (CD) is necessary, but tools envisaged so far are unable accomplishing this task while efficiently and flexibly matching the natural current profiles self-generated at large radii of the plasma column [1–5]. The lower hybrid current drive (LHCD) [6] can satisfy this important need of a reactor [1], but the LHCD system has been unexpectedly mothballed on JET. The problematic extrapolation of the LHCD tool at reactor graded high values of, respectively, density and temperatures of plasma has been now solved. The high density problem is solved by the FTU (Frascati Tokamak Upgrade) method [7], and solution of the high temperature one is presented here. Model results based on quasi-linear (QL) theory evidence the capability, w.r.t linear theory, of suitable operating parameters of reducing the wave damping in hot reactor plasmas. Namely, using higher RF power densities [8], or a narrower antenna power spectrum in refractive index [9,10], the obstacle for LHCD represented by too high temperature of reactor plasmas should be overcome. The former method cannot be used for routinely, safe antenna operations, Thus, only the latter key is really exploitable in a reactor. The proposed solutions are ultimately necessary for viability of an economic reactor

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent GNAQ somatic mutation p.Arg183Gln, while two had PIK3CA mutations. Unexpectedly, 8 of 11 cases of diffuse CM with overgrowth (DCMO) carried known PIK3CA mutations, and the remaining 3 had pathogenic GNA11 variants. Recurrent PIK3CA mutations were identified in the patients with megalencephaly–CM–polymicrogyria (MCAP), CLOVES, and Klippel–Trenaunay syndrome. Interestingly, PIK3CA somatic mutations were associated with hand/foot anomalies not only in MCAP and CLOVES, but also in CMO and DCMO. Two patients with blue rubber bleb nevus syndrome carried double somatic TEK mutations, two of which were previously undescribed. In addition, a novel sporadic case of Parkes Weber syndrome (PWS) due to an RASA1 mosaic pathogenic variant was described. Finally, a girl with a mild PWS and another diagnosed with CMO carried pathogenic KRAS somatic variants, showing the variability of phenotypic features associated with KRAS mutations. Overall, our findings expand the clinical and molecular spectrum of sporadic VMs, and show the relevance of genetic testing for accurate diagnosis and emerging targeted therapies