RICORS2040 : The need for collaborative research in chronic kidney disease

Chronic kidney disease (CKD) is a silent and poorly known killer. The current concept of CKD is relatively young and uptake by the public, physicians and health authorities is not widespread. Physicians still confuse CKD with chronic kidney insufficiency or failure. For the wider public and health authorities, CKD evokes kidney replacement therapy (KRT). In Spain, the prevalence of KRT is 0.13%. Thus health authorities may consider CKD a non-issue: very few persons eventually need KRT and, for those in whom kidneys fail, the problem is 'solved' by dialysis or kidney transplantation. However, KRT is the tip of the iceberg in the burden of CKD. The main burden of CKD is accelerated ageing and premature death. The cut-off points for kidney function and kidney damage indexes that define CKD also mark an increased risk for all-cause premature death. CKD is the most prevalent risk factor for lethal coronavirus disease 2019 (COVID-19) and the factor that most increases the risk of death in COVID-19, after old age. Men and women undergoing KRT still have an annual mortality that is 10- to 100-fold higher than similar-age peers, and life expectancy is shortened by ~40 years for young persons on dialysis and by 15 years for young persons with a functioning kidney graft. CKD is expected to become the fifth greatest global cause of death by 2040 and the second greatest cause of death in Spain before the end of the century, a time when one in four Spaniards will have CKD. However, by 2022, CKD will become the only top-15 global predicted cause of death that is not supported by a dedicated well-funded Centres for Biomedical Research (CIBER) network structure in Spain. Realizing the underestimation of the CKD burden of disease by health authorities, the Decade of the Kidney initiative for 2020-2030 was launched by the American Association of Kidney Patients and the European Kidney Health Alliance. Leading Spanish kidney researchers grouped in the kidney collaborative research network Red de Investigación Renal have now applied for the Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS) call for collaborative research in Spain with the support of the Spanish Society of Nephrology, Federación Nacional de Asociaciones para la Lucha Contra las Enfermedades del Riñón and ONT: RICORS2040 aims to prevent the dire predictions for the global 2040 burden of CKD from becoming true

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. DESIGN: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. SETTING: This was a multicenter retrospective study using information collected from 3 predominant centers. PATIENTS: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. MAIN OUTCOME MEASURES: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. RESULTS: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. CONCLUSIONS: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder

Solar resource assessment in Seville, Spain. Statistical characterisation of solar radiation at different time resolutions

The characterisation of the solar resource of a site is essential for different phases of solar energy projects. While only rough estimates of yearly levels of solar irradiation (global or direct, depending on the technology) are needed in their very early stages, the required depth of the assessment increases as the project advances, including long-term estimates that can only be obtained through a statistical analysis of a continuous and long-term database of solar radiation measurements. This paper provides the results of a statistical analysis of thirteen years of Global Horizontal Insolation (GHI) measurements and Direct Normal Insolation (DNI) measurements from Seville, Spain (37.4°N, 6.05°W) at different time resolutions, i.e. from annual to nearly instantaneous (5-s). In addition, a new methodology for gap-filling is proposed which keeps the frequency distribution of the original dataset and reduces the uncertainty of the aggregated values (hourly, daily, monthly, yearly) due to the gaps. Some relevant results of this analysis are: (a) the instantaneous values of GHI and DNI have bimodal distributions, although of different characteristics, in agreement with the results of some works developed in similar climate locations; (b) the frequency distributions of the instantaneous and 10-min clearness index (kt) and beam fraction index (kb) are almost identical, suggesting 10 min as a good time resolution for the simulation of Concentrated Solar Power (CSP) systems oriented to feasibility analyses; (c) the distributions of hourly kt and kb values, show significant differences with respect to the instantaneous ones; (d) the difference between the percentile 99 (P99) of the instantaneous GHI and its maximum value is very high, because of the enhancement effect due to the cloud reflection, while for the DNI the corresponding values are much closer. The comparison with the results of other locations of similar climates suggest that these results can be extrapolated, at least, to other locations of similar climates. Other, more site-specific, results are: (a) the number of typical overcast days in summer is extremely low, while it takes its maximum value in December, suggesting this month as the best for maintenance operations that require halting the operation of CSP plants; (b) the annual mean daily values are 4.98 kW h m−2 for GHI and 5.68 kW h m−2 for DNI, with a low inter-annual variability and a greater monthly variability which depends on the season. The monthly and yearly average values from Seville have been compared with three long-term databases derived from satellite images. The best concordance in GHI values is found with NASA’s Surface Meteorology and Solar Energy (NASA SSE), but NASA SSE provides significantly higher DNI values compared to the Seville database. A comparison of one year of DNI and GHI measurements recorded at two locations, Durban (South Africa) and Abu Dhabi (United Arab Emirates), with high solar potential is also addressed

Quality Assurance of Solar Radiation Measurements

Solar radiation measurements are necessary for every solar energy project to evaluate solar resource assessment studies. Quality assurance of solar radiation measurements is essential in all the stages of solar resource analysis. Model development and assessment, improvement of models and characterisation of the uncertainty, among others features, depend strongly on the accuracy and quality efforts in designing and operating the solar radiation ground station. This chapter summarises several aspects involved in ensuring the quality of solar radiation measurements, addressing the requirements for instrument selection and the quality methods applied to solar radiation data. This chapter has been written intended to be useful for project or group leaders involved in solar resource assessment and not a rigorous scientist text since the chapter presents a summary of many manuals for quality control