Testing the Environmental Kuznets Curve hypothesis on land use: The case of Romania

The aim of the present study is to test empirically the Environmental Kuznets Curve (EKC) hypothesis for 42 Romanian counties over the 2000-2014 period. Specifically, we investigate the existence of an inverted U-shaped curve relationship between residential built-up land and economic development in a low-income EU country undergoing rapid and profound transition. We do so by making innovative use of spatial panel econometric techniques. Contrary to our expectations, the results indicate an inverted EKC, implying that higher levels of residential built-up area occur for higher levels of wealth. Moreover, we find that the built-up land in Romania mainly reflects processes of urban expansion, such as sprawl or suburbanization, that may have harmful environmental and social consequences. Spatial spill-overs in terms of built-up land arise and spread, albeit to a limited extent, to neighbouring locations. These findings are of potential significance for policy makers, because they highlight the need for coordination among neighbours. Furthermore, strengthening the institutional framework and local tax management, and planning urban regeneration better could curb and even reverse the extensive built-up land expansion and real estate speculation

Phenotypic definition and genotype-phenotype correlates in pmpca-related disease

Background: Peptidase mitochondrial processing alpha (PMPCA) biallelic mutations cause a spectrum of disorders ranging from severe progressive multisystemic mitochondrial encephalopathy to a milder non-progressive cerebellar ataxia with or without intellectual disability. Recently, we and others described an intermediate phenotype in two unrelated patients. Methods: We report a second Italian patient carrying novel PMPCA variants (p.Trp278Leu; p.Arg362Gly). Molecular modeling, dynamics simulation, RT-qPCR, and Western blotting were performed to predict the pathogenic impact of variants in the two Italian patients and attempt genotype-phenotype correlates. Results: In line with the two patients with intermediate phenotypes, our case presented global psychomotor delay with regression, intellectual disability, spastic-ataxic gait, and hyperkinetic movements, with cerebellar atrophy and bilateral striatal hyperintensities. However, blood lactate, muscle biopsy, and MRI spectroscopy were normal. PMPCA protein levels were significantly higher than controls despite normal cDNA levels. Dynamics simulation of several PMPCA missense variants showed a variable impact on the flexibility of the glycine rich loop and, for some cases, on the overall protein stability, without clear genotype-phenotype correlates. Conclusion: We confirm the expansion of PMPCA phenotypic spectrum including an intermediate phenotype of progressive encephalopathy without systemic involvement. The association of cerebellar atrophy with “Leigh-like” striatal hyperintensities may represent a “red flag” for this condition

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases.Methods While most variants are novel or extremely rare, we report on 11 recurring variants in seven genes, including three known 'founder variants' in the Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies in similar to 550 European patients with JS and compared them with controls (>15 000 Italian plus gnomAD), and with an independent cohort of similar to 600 JS probands from the USA.Results All variants were markedly enriched in the European JS cohort compared with controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazim founder variant (TMEM216 c.218G>T) was significantly enriched in American compared with European patients with JS, while MKS1 c.1476T>G was about 10 times more frequent among European JS. Frequencies of other variants were comparable in the two cohorts. Genotyping of several markers identified four novel European founder haplotypes. Two recurrent variants (MKS1 c.1476T>G and KIAA0586 c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. However, while fibroblasts from a MKS1 c.1476T>G healthy homozygote showed impaired ability to form primary cilia and mildly reduced ciliary length, ciliary parameters were normal in cells from a KIAA0586 c.428delG healthy homozygote.Conclusion This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants

The chemical etching as a method for post-processing of 3D cellular structures obtained by electron-beam melting: limitations and difficulties

Chemical etching is a promising method for post-surface treatment and the removal of residual powder from implants obtained using electron beam cladding. Partially sintered powder particles that remained on the implants surface can be difficult to remove from the internal structure of the additively manufactured specimens. In order to remove residual powder from scaffolds' interior, an aqueous solution of HF and HNO3 acids was used. Multiple immersion was more effective to remove the remaining powder, which was explained from the chemical point of view. The influence of the chemical etching on mechanical properties, mechanical behavior, fracture modes, and morphology was investigated

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%-75%.In 2018, we reported homozygous hypomorphic missense variants of the SUFU gene in two families with mild JS. Recently, heterozygous truncating SUFU variants were identified in families with dominantly inherited COMA, occasionally associated with mild DD and subtle cerebellar anomalies. We reanalysed next generation sequencing (NGS) data in two cohorts comprising 1097 probands referred for genetic testing of JS genes. Heterozygous truncating and splice-site SUFU variants were detected in 22 patients from 17 families (1.5%) with strong male prevalence (86%), and in 8 asymptomatic parents. Patients presented with COMA, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles. The same pattern was observed in two out of three tested asymptomatic parents. Heterozygous truncating or splice-site SUFU variants cause a novel neurodevelopmental syndrome encompassing COMA and mild JS, which likely represent overlapping entities. Variants can arise de novo or be inherited from a healthy parent, representing the first cause of JS with dominant inheritance and reduced penetrance. Awareness of this condition will increase the diagnostic yield of JS genetic testing, and allow appropriate counselling about prognosis, medical monitoring and recurrence risk

Challenges and Opportunities to Regional Renewal in the European Union

The strength of the 2008 financial and economic crisis and the resulting degree of resilience were heterogeneous among and within the European Union countries. Challenges and opportunities driven by regional-specific differences determined the ability to overshoot the precrisis levels of growth. Focusing upon Nomenclature of Territorial Units for Statistics 2 (NUTS 2) European regions, we explore a novel conceptual framework related to regional economic resilience, namely the renewal capacity. Precisely, we concentrate on the capacity of regional economies to “renew” their growth paths in the labor market in the aftermath of the recent global crisis. We find some well-identified spatial patterns of regional employment renewal and we identify a set of territorial assets that allow regions to bounce back faster and more comprehensively than others to the economic downturn. Furthermore, there are significant differences between the drivers of the regional renewal of Old and New Member States. Our findings suggest potential policy directions at all levels for enhancing regional resilience

A composite policy tool to measure territorial resilience capacity

The 2007–2008 global recession and consequent slow recovery have revealed considerable heterogeneity in economic performance across countries and regions. This study contributes innovatively to existing resilience literature by identifying a life cycle resilience framework and computing a “handy” composite Regional Economic Resilience Indicator. We analyse economic resilience by means of a cluster and exploratory spatial data analysis, revealing well-defined spatial patterns in the EU. National resilience trends dominate in the EU-15, while a more heterogeneous spatial pattern is present in the EU-13. Our findings can support the monitoring of economic resilience at regional level and facilitate a common understanding of this complex and dynamic process for policy purposes

A composite policy tool to measure territorial resilience capacity

The 2007–2008 global recession and consequent slow recovery have revealed considerable heterogeneity in economic performance across countries and regions. This study contributes innovatively to existing resilience literature by identifying a life cycle resilience framework and computing a “handy” composite Regional Economic Resilience Indicator. We analyse economic resilience by means of a cluster and exploratory spatial data analysis, revealing well-defined spatial patterns in the EU. National resilience trends dominate in the EU-15, while a more heterogeneous spatial pattern is present in the EU-13. Our findings can support the monitoring of economic resilience at regional level and facilitate a common understanding of this complex and dynamic process for policy purposes

Clustering the built form at LAU2 level for addressing sustainable policies: Insights from the Belgium case study

3noPopulation growth has determined two different types of urban development: the vertical growth, tending to compactness, and the horizontal one which privileges a more dispersed and sprawled expansion. Those two urban forms have different impacts on environmental sustainability influencing, among others, the microclimate conditions of a city, the energy demand and its economic cost, and the provision of Ecosystem Services. European policies are oriented towards sustainable development of urban areas reducing the environmental footprint and restoring degraded ecosystem through a Green infrastructure deployment. Understanding the urban form, and specifically, the typology of the building form is crucial for policymakers and urban planners to define strategies for a higher degree of sustainability. The lack of data and the heterogeneity of information across Europe on the built form have hindered the operationalisation of European strategies and their downscaling into national or regional policies. The paper aims to fill this gap proposing a methodology based on a cluster analysis that estimates the built form of Belgium at LAU2 level for addressing single specific actions towards environmental sustainability goals. The cluster analysis uses data traditionally surveyed by national censuses, ensuring the replicability of the method for the upcoming 2021 census, and also the opportunity to update it continuously.nonenoneRonchi S.; Pontarollo N.; Serpieri C.Ronchi, S.; Pontarollo, N.; Serpieri, C