Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies.
a b s t r a c tThis policy-oriented opinion paper, which has taken the form of a Manifesto, is co-authored by scientists and engineers from Southern European Union countries that are presently experiencing deep and complex systemic crises: Portugal, Spain, Italy, Greece and Cyprus. With their Manifesto, the authors advocate the adoption of a new development model, focusing on the target of sustainable bioeconomy, around which other development themes and topics will crystallize. Implementing this model will act as a locomotive to get the economies and societies of these countries efficiently out of their crises, and smoothly into greener post-crisis pastures. The proposal is articulated in ten critical steps or theses for immediate action by the policy-and decision-makers, as well as industry, markets and other key actors within this troubled area of the European Mezzogiorno. Corroborating evidence of these theses comes in the form of short reports or "letters" on the key topics of this Manifesto from the countries and regions concerned.
Energy crops are considered key actors in meeting the international and European carbon reduction targets, increasing the national energy security through renewable energy production, mitigating climate change impacts, and promoting sustainability. Multicriteria analysis is a suitable decision-making tool for the energy sector, where the final decisions have to consider for a range of aspects, and can be utilised as well for deciding on appropriate energy crops. In this paper, a popular multicriteria method, PROMETHEE, is employed for the identification of the most optimal energy crops for their exploitation in Cyprus. The criteria and the weights of each are defined, and accordingly five different scenarios are developed and examined. The obtained results indicated that the promotion of second-generation energy crops is more ideal in terms of the set objectives, as well as more sustainable than the exploitation of any first-generation energy crop.
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