Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce

MAORY: adaptive optics module for the E-ELT

MAORY is one of the four instruments for the E-ELT approved for construction. It is an adaptive optics module offering two compensation modes: multi-conjugate and single-conjugate adaptive optics. The project has recently entered its phase B. A system-level overview of the current status of the project is given in this paper

Self-Organizing Maps: An AI Tool for Identifying Unexpected Source Signatures in Non-Target Screening Analysis of Urban Wastewater by HPLC-HRMS

(1) Background: Monitoring effluent in water treatment plants has a key role in identifying potential pollutants that might be released into the environment. A non-target analysis approach can be used for identifying unknown substances and source-specific multipollutant signatures. (2) Methods: Urban and industrial wastewater effluent were analyzed by HPLC-HRMS for non-target analysis. The anomalous infiltration of industrial wastewater into urban wastewater was investigated by analyzing the mass spectra data of “unknown common” compounds using principal component analysis (PCA) and the Self-Organizing Map (SOM) AI tool. The outcomes of the models were compared. (3) Results: The outlier detection was more straightforward in the SOM model than in the PCA one. The differences among the samples could not be completely perceived in the PCA model. Moreover, since PCA involves the calculation of new variables based on the original experimental ones, it is not possible to reconstruct a chromatogram that displays the recurring patterns in the urban WTP samples. This can be achieved using the SOM outcomes. (4) Conclusions: When comparing a large number of samples, the SOM AI tool is highly efficient in terms of calculation, visualization, and identifying outliers. Interpreting PCA visualization and outlier detection becomes challenging when dealing with a large sample size

Environmental and social recovery asymmetries to large-scale disturbances in small island communities

publisher versionPeople’s livelihoods in tropical small-island developing states are greatly dependent on marine ecosystem services. Yet services such as fisheries and coastal buffering are being degraded at an alarming rate, thus making people increasing vulnerable to protracted and sudden environmental changes. In the context of the occurrences of extreme events such as earthquakes and tsunamis, it is vital to uncover the processes that make people in these island states resilient, or not, to environmental disruptions. This paper compares people’s perceptions of social and environmental impacts after an extreme event in the Western Solomon Islands (11 different villages on 8 different islands) to better understand how knowledge systems influence the coupling of human and natural systems. We examine the factors that contributed to perceptions of respective recovery in the environmental versus the social domains across communities with different traditional governance and modernization characteristics in a tsunami impact gradient. First, we separately assessed, at the community and individual level, the potential determinants of perceived recovery in the environmental and social domains. At the community level, the average values of the perceived environmental and social recovery were calculated for each community (1 year after the tsunami), and at the individual level, normally distributed environmental and social recovery variables (based on the difference in perceptions immediately and 1 year after the tsunami) were used as dependent variables in two General Linear Models. Results suggest that environmental and social resilience are not always coupled correspondingly and, less unexpectedly, that asymmetries during recovery can occur as a result of the underlying social and ecological context and existing adaptive capacity. More generally, the study shows how by evaluating post-disturbance perceptional data in tsunami-affected communities, we can better understand how subjective perceptions of change can affect the (de)-coupling of human and natural systems

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM

Runaway electron beam control

Post-disruption runaway electron (RE) beams in tokamaks with large current can cause deep melting of the vessel and are one of the major concerns for ITER operations. Consequently, a considerable effort is provided by the scientific community in order to test RE mitigation strategies. We present an overview of the results obtained at FTU and TCV controlling the current and position of RE beams to improve safety and repeatability of mitigation studies such as massive gas (MGI) and shattered pellet injections (SPI). We show that the proposed RE beam controller (REB-C) implemented at FTU and TCV is effective and that current reduction of the beam can be performed via the central solenoid reducing the energy of REs, providing an alternative/parallel mitigation strategy to MGI/SPI. Experimental results show that, meanwhile deuterium pellets injected on a fully formed RE beam are ablated but do not improve RE energy dissipation rate, heavy metals injected by a laser blow off system on low-density flat-top discharges with a high level of RE seeding seem to induce disruptions expelling REs. Instabilities during the RE beam plateau phase have shown to enhance losses of REs, expelled from the beam core. Then, with the aim of triggering instabilities to increase RE losses, an oscillating loop voltage has been tested on RE beam plateau phase at TCV revealing, for the first time, what seems to be a full conversion from runaway to ohmic current. We finally report progresses in the design of control strategies at JET in view of the incoming SPI mitigation experiments