A registry for Dravet syndrome: The Italian experience

Objectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. / Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. / Results: At present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0–9) while at last follow-up was 11 years (IQR 5–18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). / Significance: The Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its framework makes it improvable based on growing experience with its use and easily adaptable to other rare and complex epilepsy syndromes

Relation between water status and desiccation-affected genes in the lichen photobiont Trebouxia gelatinosa

9siThe relation between water status and expression profiles of desiccation -related genes has been studied in the desiccation tolerant (DT) aeroterrestrial green microalga Trebouxia gelatinosa, a common lichen photobiont. Algal colonies were desiccated in controlled conditions and during desiccation water content (WC) and water potential (Ψ) were measured to find the turgor loss point (Ψtlp). Quantitative real-time PCR was performed to measure the expression of ten genes related to photosynthesis, antioxidant defense, expansins, heat shock proteins (HSPs), and desiccation related proteins in algal colonies collected during desiccation when still at full turgor (WC > 6 g H2O g−1 dry weight), immediately before and after Ψtlp (−4 MPa; WC∼1 g H2O g−1 dry weight) and before and after complete desiccation (WC < 0.01 g H2O g−1 dry weight), quantifying the HSP70 protein levels by immunodetection. Our analysis showed that the expression of eight out of ten genes changed immediately before and after Ψtlp. Interestingly, the expression of five out of ten genes changed also before complete desiccation, i.e. between 0.2 and 0.01 g H2O g−1 dry weight. However, the HSP70 protein levels were not affected by changes in water status. The study provides new evidences of the link between the loss of turgor and the expression of genes related to the desiccation tolerance of T. gelatinosa, suggesting the former as a signal triggering inducible mechanisms.partially_openembargoed_20200901_20210901Banchi, Elisa*; Candotto Carniel, Fabio; Montagner, Alice; Petruzzellis, Francesco; Pichler, Gregor; Giarola, Valentino; Bartels, Dorothea; Pallavicini, Alberto; Tretiach, MauroBanchi, Elisa; Candotto Carniel, Fabio; Montagner, Alice; Petruzzellis, Francesco; Pichler, Gregor; Giarola, Valentino; Bartels, Dorothea; Pallavicini, Alberto; Tretiach, Maur

STUDY OF THE EFFECT OF ABSORBER ETCHING ON THE BACK CONTACT PERFORMANCE OF CDTE SOLAR CELLS

The application of copper in the CdTe back contact is believed to be crucial to form an ohmic contact with CdTe. On the other hand it has actually shown other beneficial effects such as increasing the carriers concentration, indeed the highest conversion efficiencies have been obtained only with copper insertion. However it is not clear if this is due to a compensation reduction or to a formation of new defects in bulk CdTe. Moreover, the role of the etching process is also very important, it is believed that a tellurium rich layer is formed which might react with copper forming CuxTe. We have prepared CdTe devices with Cu/Au back contact on differently etched CdTe surface and tested them by applying thermal, luminous and electrical stresses. The devices and their degradation effects are studied by current-voltage, capacitance voltage, drive level capacitance profiling and admittance spectroscopy characterization techniques and the etching effect is analyzed by Raman measurements

Improved stability of CdTe solar cells by absorber surface etching

For CdTe solar cells copper seems to be necessary to achieve best energy conversion efficiencies, whilst it is known to be the main reason of cell performance degradation due to its tendency to diffuse through the bulk. Some studies have shown a direct connection between defect concentration and copper, but little has been discussed about its relation to the CdTe etching. Within this study many samples with Cu/Au back-contact have been prepared with different etching times and tested applying thermal, luminous and electrical stresses. We have analyzed the aging effects on the cell performance and on the nature and concentration of the defects by means of a variety of characterization techniques, like atomic force microscopy, Raman, current-voltage, capacitance-voltage, drive level capacitance profiling and admittance spectroscopies. Results of the accelerated lifetime tests show that different performance degradation is observed for cells with differently etched absorber. Solar cells made with optimized etching have very low degradation while the strongest performance reduction is detected for unetched cells despite their initial efficiency is as high as for the case of etched absorbers

Fast and minimally invasive determination of the unsaturation index of white fat depots by micro-Raman spectroscopy.

In the last 20 years increasing interest has been devoted to the investigation of white adipose tissue (WAT) because hypo- or hyperfunction of WAT is involved in the pathogenesis of obesity and other pathologies. The investigation and discrimination of different characteristics in adipose tissues by means of spectroscopic techniques appears as a topic of current interest, also in view of possible medical-technological applications. The aim of this work was to establish micro-Raman spectroscopy as a tool for the characterization of mammals fat tissue. After preliminary tests aimed at defining a suitable sample preparation protocol, Raman spectra of WAT specimens excised from mice of different ages were recorded in the energy range 750-3,350 cm(-1). Quantitative values of the unsaturation index were obtained through the calibration with HR-NMR spectra of lipid extracts. Raman spectroscopy detected a sharp increase in the unsaturation index between 22 and 30 days of age in close correspondence with the weaning of mice (21 days). The present results show that Raman spectroscopy is an inexpensive, fast and robust technique to analyze the unsaturation index of mammals fat tissues that could be routinely used in bioptic samples

2020 Dataset on local gambling regulations in Italy

The dataset provides the complete enumeration of gambling policies implemented by Italian Municipalities between 2003 and 2021. The dataset comprises information on all municipalities existing in 2017 and following years (thus considering also merging). The following variables are available: Municipality ISTAT Code (ID), Municipality Name (Name) Province, Region, Researcher, and a series of variables identifying the number and the type of rulings adopted ('regolamento', 'ordinanza' and 'delibera'). The rulings are distinguished between identified and downloaded or only identified (because the document is no longer available). Additional variables describe municipal activism with other administrative acts (Anti-gambling Manifesto, events, projects or tax reductions). Overall, the dataset comprises 8031 units

Challenges in the harmonisation of global integrated assessment models: A comprehensive methodology to reduce model response heterogeneity

Harmonisation sets the ground to a solid inter-comparison of integrated assessment models. A clear and transparent harmonisation process promotes a consistent interpretation of the modelling outcomes divergences and, reducing the model variance, is instrumental to the use of integrated assessment models to support policy decision-making. Despite its crucial role for climate economic policies, the definition of a comprehensive harmonisation methodology for integrated assessment modelling remains an open challenge for the scientific community. This paper proposes a framework for a harmonisation methodology with the definition of indispensable steps and recommendations to overcome stumbling blocks in order to reduce the variance of the outcomes which depends on controllable modelling assumptions. The harmonisation approach of the PARIS REINFORCE project is presented here to layout such a framework. A decomposition analysis of the harmonisation process is shown through 6 integrated assessment models (GCAM, ICES-XPS, MUSE, E3ME, GEMINI-E3, and TIAM). Results prove the potentials of the proposed framework to reduce the model variance and prese

A registry for Dravet syndrome: The Italian experience

Objectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. Results: At present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n&nbsp;=&nbsp;263) and their overall neurological condition (n&nbsp;=&nbsp;255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0-9) while at last follow-up was 11 years (IQR 5-18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P &lt; 0.001), an increased prevalence of behavioral disorders including attention deficit (P &lt; 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P &lt; 0.001). Significance: The Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its framework makes it improvable based on growing experience with its use and easily adaptable to other rare and complex epilepsy syndromes

Where is the EU headed given its current climate policy? A stakeholder-driven model inter-comparison

Recent calls to do climate policy research with, rather than for, stakeholders have been answered in non-modelling science. Notwithstanding progress in modelling literature, however, very little of the scenario space traces back to what stakeholders are ultimately concerned about. With a suite of eleven integrated assessment, energy system and sectoral models, we carry out a model inter-comparison for the EU, the scenario logic and research questions of which have been formulated based on stakeholders' concerns. The output of this process is a scenario framework exploring where the region is headed rather than how to achieve its goals, extrapolating its current policy efforts into the future. We find that Europe is currently on track to overperforming its pre-2020 40% target yet far from its newest ambition of 55% emissions cuts by 2030, as well as looking at a 1.0–2.35 GtCO2 emissions range in 2050. Aside from the importance of transport electrification, deployment levels of carbon capture and storage are found intertwined with deeper emissions cuts and with hydrogen diffusion, with most hydrogen produced post-2040 being blue. Finally, the multi-model exercise has highlighted benefits from deeper decarbonisation in terms of energy security and jobs, and moderate to high renewables-dominated investment needs

2020 Dataset on local gambling regulations in Italy

The dataset provides the complete enumeration of gambling policies implemented by Italian Municipalities between 2003 and 2021. The dataset comprises information on all municipalities existing in 2017 and following years (thus considering also merging). The following variables are available: Municipality ISTAT Code (ID), Municipality Name (Name) Province, Region, Researcher, and a series of variables identifying the number and the type of rulings adopted (“regolamento”, “ordinanza” and “delibera”). The rulings are distinguished between identified and downloaded or only identified (because the document is no longer available). Additional variables describe municipal activism with other administrative acts (Anti-gambling Manifesto, events, projects or tax reductions). Overall, the dataset comprises 8031 units