Patient empowerment of people living with rare diseases. Its contribution to sustainable and resilient healthcare systems

The notion of empowerment is linked to patients’ everyday life and is the base allowing for the patient engagement through which individuals and communities are able to express their needs, are involved in decision-making, take action to meet those needs. In the field of rare diseases, empowerment strategies have greater value due to low prevalence, lack of expertise, poor quality of life. Avenues to patient empowerment are: health literacy and capacity-building; shared decision-making; support to self-management. Patient empowerment is recognised as key enabler in creating sustainability as addressing challenges faced by modern healthcare systems in terms of effectiveness, access and resilience. It is recommended to develop a comprehensive EU roadmap on patient empowerment  including specific recommendations, taking stock of good practices. This holistic approach should lead to a society where all actors are fulfilled human beings and unmet needs are addressed in compliance with fundamental human rights

Temperature fields induced by geothermal devices

Efficient and sustainable exploitation of low-enthalpy geothermal energy relies on accurate representations of heat transfer processes in the subsurface. An analytical model, which provides such a representation by predicting the dynamics of thermal fields induced by shallow GHEs (ground heat exchangers), is derived. The model accounts for atmospheric temperature fluctuations at the ground surface, an arbitrary geometry of GHEs operating in time-varying heating/cooling modes, and anisotropy and uncertain spatio-temporal variability of thermal conductivity of the ambient soil. To validate the model, its predictions of a thermal field generated by a shallow flat-panel GHEs are compared with experimental data. This comparison demonstrates the model's ability to provide accurate fit-free predictions of soil-temperature fields generated by GHEs. The analysis presented shows that a single horizontal GHE may affect soil temperature by several degrees at distances on the order of 1 m. The volume of influence is expressed in terms of soil thermal properties. Such modeling predictions are invaluable for screening of potential sites and optimal design of geothermal systems consisting of multiple GHEs

Uncertainty-based Analysis of Variations in Subsurface Thermal Field Due to Horizontal Flat-panel Heat Exchangers

Geothermal energy is produced by coupling a heat pump with the ground, resorting to ground heat exchangers (GHEs) that can be installed in vertical or inclined boreholes or horizontally in shallow ground. Horizontal GHEs are easy to be installed and maintained, more compliant with environmental regulations, and generally do not interfere with groundwater systems. To overcome this deficiency, the shape of the exchangers plays a relevant role. Here, we consider a new shape devised in the form of a flatpanel, positioned horizontally and edgeways in a shallow trench. Its energetic performance compares favourably with other advanced shapes. In order to design and verify geothermal systems, it is crucial to predict accurately the soil thermal field around the exchanger. This prediction is generally compromised by the uncertainty associated with (i) the thermo-physical properties of the soil and (ii) the solar impact on surface energy balance, that mainly controls the thermal energy storage in the first layer of the subsurface environment. In this context, global sensitivity analysis (GSA) may be performed to delineate the most significant sources of uncertainty and address measurements accordingly. Sensitivity studies of other horizontal GHEs have been developed without resorting to GSA. Here, we present an effective approach for the characterization of the uncertainty associated with the variations in the soil thermal field induced by a flat-panel. We show that the variability associated with the climate parameters plays the most relevant role. It impacts the length of the exchanger for fixed specific power required at the flatpanel, thus affecting the overall design of the geothermal system

Temperature fields induced by geothermal devices

Efficient and sustainable exploitation of low-enthalpy geothermal energy relies on accurate representations of heat transfer processes in the subsurface. An analytical model, which provides such a representation by predicting the dynamics of thermal fields induced by shallow GHEs (ground heat exchangers), is derived. The model accounts for atmospheric temperature fluctuations at the ground surface, an arbitrary geometry of GHEs operating in time-varying heating/cooling modes, and anisotropy and uncertain spatio-temporal variability of thermal conductivity of the ambient soil. To validate the model, its predictions of a thermal field generated by a shallow flat-panel GHEs are compared with experimental data. This comparison demonstrates the model's ability to provide accurate fit-free predictions of soil-temperature fields generated by GHEs. The analysis presented shows that a single horizontal GHE may affect soil temperature by several degrees at distances on the order of 1 m. The volume of influence is expressed in terms of soil thermal properties. Such modeling predictions are invaluable for screening of potential sites and optimal design of geothermal systems consisting of multiple GHEs

Reliability of EGFR and KRAS mutation analysis on fine-needle aspiration washing in non-small cell lung cancer

Introduction: Molecular profiling of advanced non-small cell lung cancer (NSCLC) has become essential for predicting customized medical treatment decision. In light of recent advances in non-invasive diagnostic procedures in NSCLC, we aimed to demonstrate the reliability of assessing molecular tests for epidermal growth factor receptor (EGFR) and KRAS genes on cytological samples by comparing the molecular profile obtained on cells from scraped smears with that on paired needle washing in a series of NSCLC cases. Methods: Thirty-two cytological specimens obtained by fine-needle aspiration biopsy procedures from primary or metastatic lesions of NSCLCs were Giemsa stained for a rapid on-site evaluation and, in case of an adequate sampling, the cellular material obtained from needle washing was collected into a saline solution. Scraped smears and needle washings were tested for EGFR and KRAS by polymerase chain reaction followed by direct sequencing. Results: The concordance between EGFR and KRAS mutational status in 29 paired scraped smears and needle washing was 100%, with 7 paired samples showing the same EGFR mutation (4 L858R mutation, 2 E746_A750 deletion and 1 A767_V769 duplication) and 8 paired samples showing the same KRAS mutations (4 G12D, 1 G12A, 1 G12V and 2 G12C). Three scraped smears, uninformative for poor DNA quality, resulted EGFR mutated on paired needle washings. Conclusions: Needle washing obtained in the course of NSCLC non-invasive fine needle diagnostic procedures allows reliable mutation testing and can be regarded as an additional important source of biological material for molecular profiling of advanced NSCLC. © 2013 Elsevier Ireland Ltd

Towards Achieving Equity and Innovation in Newborn Screening across Europe

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programmes varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced. To help improve the equity of provision of NBS and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. In this article, we present experiences from individual EU countries, stakeholder initiatives and the meeting’s final conclusions, which can help countries attempting to establish new NBS programmes or expand existing provision