Nephrogenic Syndrome of Inappropriate Antidiuresis

Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. This latter recently described disease may be diagnosed from infancy to adulthood, as some carriers remain asymptomatic for many years. Symptomatic children, however, typically present with clinical and biological features suggesting inappropriate antidiuretic hormone secretion with severe hyponatremia and high urine osmolality, but a low plasma arginine vasopressin level. To date, only two missense mutations in the vasopressin V2 receptor gene have been found in the reported patients. The pathophysiology of the disease requires fuller elucidation as the phenotypic variability observed in patients bearing the same mutations remains unexplained. The treatment is mainly preventive with fluid restriction, but urea may also be proposed

An approach for the estimation of the aggregated photovoltaic power generated in several European countries from meteorological data

Classical approaches to the calculation of the photovoltaic (PV) power generated in a region from meteorological data require the knowledge of the detailed characteristics of the plants, which are most often not publicly available. An approach is proposed with the objective to obtain the best possible assessment of power generated in any region without having to collect detailed information on PV plants. The proposed approach is based on a model of PV plant coupled with a statistical distribution of the prominent characteristics of the configuration of the plant and is tested over Europe. The generated PV power is first calculated for each of the plant configurations frequently found in a given region and then aggregated taking into account the probability of occurrence of each configuration. A statistical distribution has been constructed from detailed information obtained for several thousands of PV plants representing approximately 2 % of the total number of PV plants in Germany and was then adapted to other European countries by taking into account changes in the optimal PV tilt angle as a function of the latitude and meteorological conditions. The model has been run with bias-adjusted ERA-interim data as meteorological inputs. The results have been compared to estimates of the total PV power generated in two countries: France and Germany, as provided by the corresponding transmission system operators. Relative RMSE of 4.2 and 3.8 % and relative biases of −2.4 and 0.1 % were found with three-hourly data for France and Germany. A validation against estimates of the country-wide PV-power generation provided by the ENTSO-E for 16 European countries has also been conducted. This evaluation is made difficult by the uncertainty on the installed capacity corresponding to the ENTSO-E data but it nevertheless allows demonstrating that the model output and TSO data are highly correlated in most countries. Given the simplicity of the proposed approach these results are very encouraging. The approach is particularly suited to climatic timescales, both historical and future climates, as demonstrated here

Using ERA-Interim reanalysis for creating datasets of energy-relevant climate variables

The construction of a bias-adjusted dataset of climate variables at the near surface using ERA-Interim reanalysis is presented. A number of different, variable-dependent, bias-adjustment approaches have been proposed. Here we modify the parameters of different distributions (depending on the variable), adjusting ERA-Interim based on gridded station or direct station observations. The variables are air temperature, dewpoint temperature, precipitation (daily only), solar radiation, wind speed, and relative humidity. These are available on either 3 or 6 h timescales over the period 1979–2016. The resulting bias-adjusted dataset is available through the Climate Data Store (CDS) of the Copernicus Climate Change Data Store (C3S) and can be accessed at present from ftp://ecem.climate.copernicus.eu. The benefit of performing bias adjustment is demonstrated by comparinginitial and bias-adjusted ERA-Interim data against gridded observational fields

Advancing climate services for the European renewable energy sector through capacity building and user engagement

The development of successful climate services faces a number of challenges, including the identification of the target audience and their needs and requirements, and the effective communication of complex climate information, through engagement with a range of stakeholders. This paper describes how these challenges were tackled during the European Climatic Energy Mixes (ECEM) project, part of the Copernicus Climate Change Service (C3S), in order to deliver a pre-operational, proof-of-concept climate service for the European renewable energy sector. The process of iterative user engagement adopted in ECEM is described, from the initial presentation of the team's first vision for such a service to support external stakeholders, through to evaluation of the final interactive tool for visualisation, data download and supporting documentation (the C3S ECEM Demonstrator). The outcomes of this evaluation are outlined, together with a retrospective reflection on the engagement and development process. The extent to which co-production and co-design were achieved in practice is assessed. The paper also highlights the distance travelled from the start to end of ECEM in terms of building capacity, developing a community of practice, and raising the Technology Readiness Level. The relevance of ECEM for the European climate services market is briefly considered, including the development of downstream commercial services which build upon the public C3S services.European Commission | Ref. 2015/C3S_441_Lot2_UE

Persistent elevation of urine aquaporin-2 during water loading in a child with nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a R137L mutation in the V2 vasopressin receptor

Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) is a novel disease caused by a gain-of-function mutation in the V2 vasopressin receptor (V2R), which results in water overload and hyponatremia. We report the effect of water loading in a 3-year old boy with NSIAD, diagnosed in infancy, to assess urine aquaporin-2 (AQP2) excretion as a marker for V2R activation, and to evaluate the progression of the disease since diagnosis. The patient is one of the first known NSIAD patients and the only patient with a R137L mutation. Patient underwent a standard water loading test in which serum and urine sodium and osmolality, serum AVP, and urine AQP2 excretion were measured. The patient was also evaluated for ad lib fluid intake before and after the test. This patient demonstrated persistent inability to excrete free water. Only 39% of the water load (20 ml/kg) was excreted during a 4-hour period (normal ≥ 80-90%). Concurrently, the patient developed hyponatremia and serum hypoosmolality. Serum AVP levels were detectable at baseline and decreased one hour after water loading; however, urine AQP2 levels were elevated and did not suppress normally during the water load. The patient remained eunatremic but relatively hypodipsic during ad lib intake. In conclusion, this is the first demonstration in a patient with NSIAD caused by a R137L mutation in the V2R that urine AQP2 excretion is inappropriately elevated and does not suppress normally with water loading. In addition, this is the first longitudinal report of a pediatric patient with NSIAD diagnosed in infancy who demonstrates the ability to maintain eunatremia during ad lib dietary intake

Creating a proof-of-concept climate service to assess future renewable energy mixes in Europe: an overview of the C3S ECEM project

The EU Copernicus Climate Change Service (C3S) European Climatic Energy Mixes (ECEM) has produced, in close collaboration with prospective users, a proof-of-concept climate service, or Demonstrator, designed to enable the energy industry and policy makers assess how well different energy supply mixes in Europe will meet demand, over different time horizons (from seasonal to long-term decadal planning), focusing on the role climate has on the mixes. The concept of C3S ECEM, its methodology and some results are presented here. The first part focuses on the construction of reference data sets for climate variables based on the ERA-Interim reanalysis. Subsequently, energy variables were created by transforming the bias-adjusted climate variables using a combination of statistical and physically-based models. A comprehensive set of measured energy supply and demand data was also collected, in order to assess the robustness of the conversion to energy variables. Climate and energy data have been produced both for the historical period (1979–2016) and for future projections (from 1981 to 2100, to also include a past reference period, but focusing on the 30 year period 2035–2065). The skill of current seasonal forecast systems for climate and energy variables has also been assessed. The C3S ECEM project was designed to provide ample opportunities for stakeholders to convey their needs and expectations, and assist in the development of a suitable Demonstrator. This is the tool that collects the output produced by C3S ECEM and presents it in a user-friendly and interactive format, and it therefore constitutes the essence of the C3S ECEM proof-of-concept climate service