24 research outputs found

    Urban Green Spaces: how geospatial information can help identify diversity. A case study from eastern Lesser Poland

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    Progressing globalisation and suburbanisation are driving dynamic changes in land management, particularly in suburban zones. Green infrastructure and its impact on human quality of life are playing an increasingly important role in appropriate spatial management, because of human activities that are changing the natural environment. Therefore, monitoring and assessing the proportion of green spaces is essential for environmental, urban and social balance. The purpose of the study is to develop a method for measuring and monitoring the diversity of land cover classes, including green spaces as representatives of natural land cover classes. The proposed method describes the current state of land in quantitative and qualitative terms based on spatial data on land cover. The study employs Shannon’s Diversity Index (SHDI) to empirically investigate land cover homogeneity. The intensity of the phenomenon was visualised in space using statistical hot spot analysis. The case study involves two cities in eastern Lesser Poland and districts adjacent to them. The results have demonstrated that the investigated areas have a highly heterogenic land cover. Basic assessment fields have exhibited homogeneity only towards large, green, agricultural, environmentally valuable and, often, protected areas. The results concerning urban green spaces comprise a set of data that constitute a valuable source of information to aid the development of informed urban-planning solutions under the sustainable development paradigm

    Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases

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    •SMA3 leading to the biggest limitations in performing.•The most difficult tasks to perform were those in the area of ‘mobility’.•Patients from our study reported similar limitations in activities of daily living

    Methodology of evaluation and correction of geometric data topology in QGIS software

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    Geographical Information Systems (GIS) has revolutionised the process of collecting and processing data, therefore, more and more data recorded in an analogue form are transformed into the digital format. However, the process of generating vector models poses a risk of appearing defects of different types. A methodology of correcting common geometric and topological errors that appear in the manual vectorization of a raster model was presented in the paper. The research material was the vector layer including the digitized version of several dozens of drawings of spatial development plans. The paper also presents a procedure for creating a vector model of spatial data with attention paid to potential sources of errors which could be incurred at the stage of its creation as well as indicates methods for their prevention. The tools and plug-ins for evaluation and revision of geometric and topological correctness of a vector model implemented in QGIS software were mainly used in the survey. Elaborated algorithms are aimed at acceleration of data processing to allow their usage during that process. Indeed, proper conducting of spatial analyses needs to administer a data set which is free of errors. Only then, is it possible to obtain proper results and draw appropriate conclusions

    Analysis of the spatial structure of urban antropogenic areas

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    The dynamic urbanization process, which results from widespread anthropogenic transformation, affects landscape changes. These changes, measured using various factors and indices, are the subject of research around the world. The purpose of the present work was to analyse the spatial structure of anthropogenic elements of land cover. On the basis of the landscape metric – the MSI index (Mean Shape Index), the geometry configuration of individual land cover elements was checked. A Kernel Density tool was used to create a map of the elements of density distribution. The information thus obtained about the surface of anthropogenic elements of land cover expressed in [m2], per 1 km2 of space, made it possible to indicate the location of areas most transformed by human activity. The area of research encompassed urban municipalities – of Tarnów and Nowy Sącz. As the source material, the vector layer of land cover was used (BDOT10k –Topographic Objects Database), which was reclassified into 11 new categories. The GIS (Geographical Information System) tools available in the QGIS and ArcGIS software were used for the purpose of the analysis. Based on the conducted studies, it was found that despite a similar percentage of anthropogenic elements of land cover, the studied areas show a different character in terms of their spatial distribution and complexity of their geometry. In the case of Nowy Sącz, small point enclaves of areas showing high density of anthropogenically transformed surfaces were observed. These surfaces are characterized by a considerable degree of dispersion but a small degree of geometrical complexity. In the city of Tarnów, the research we conducted showed a different tendency due to the much larger size of the aforementioned enclaves. Tarnów is characterized by a higher share of developed areas in the city centre, whereas Nowy Sącz is more uniform in the growth of such areas in particular density zones. Moreover, in Tarnów, along with the increase in the density of the anthropogenic land cover, the complexity of the geometry of land cover elements decreases, whereas in the case of Nowy Sącz, the value of the MSI landscape metric is proportionally inversed

    The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

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    Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. It is due to mutations in the gene coding for the AADC enzyme responsible for the synthesis of dopamine and serotonin. Using whole exome sequencing, we have identified a novel homozygous c.989C > T (p.Pro330Leu) variant of AADC causing AADC deficiency. Pro330 is part of an essential structural and functional element: the flexible catalytic loop suggested to cover the active site as a lid and properly position the catalytic residues. Our investigations provide evidence that Pro330 concurs in the achievement of an optimal catalytic competence. Through a combination of bioinformatic approaches, dynamic light scattering measurements, limited proteolysis experiments, spectroscopic and in solution analyses, we demonstrate that the substitution of Pro330 with Leu, although not determining gross conformational changes, results in an enzymatic species that is highly affected in catalysis with a decarboxylase catalytic efficiency decreased by 674- and 194-fold for the two aromatic substrates. This defect does not lead to active site structural disassembling, nor to the inability to bind the pyridoxal 5'-phosphate (PLP) cofactor. The molecular basis for the pathogenic effect of this variant is rather due to a mispositioning of the catalytically competent external aldimine intermediate, as corroborated by spectroscopic analyses and pH dependence of the kinetic parameters. Altogether, we determined the structural basis for the severity of the manifestation of AADC deficiency in this patient and discussed the rationale for a precision therapy

    What Can We Learn from Western European Landscape Policies? Comparitive Analysis of European Landscape Policies Focusing on Poland and Hungary

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    With the contribution of our international team we compared the main elements of landscape policy of France, Germany, Poland and Hungary. Germany and France, all have a strong landscape policy but of different types, tools and institutional systems. In our analysis we compare these systems with the landscape policy tools of East-Central European countries. The French state offers several possible tools for local authorities for landscape protection and development. Germany has an exceptional hierarchic and detailed system for landscape plans integrated into the spatial planning system. In Poland and Hungary as former socialist countries landscape and spatial policy had to be changed, adjusted to market demands. In all countries landscape assets are important part of our heritage and the countries have chosen different methods to protect them. We compare the tools, the mechanism and draw consequences for the Hungarian and Polish landscape planning practice

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

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    Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

    Get PDF
    Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic

    Application of Hellwig’s development measure method for the analysis of sustainable development of Silesia Province

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    Celem przeprowadzonej analizy było zbadanie zmiany poziomu zrównoważonego rozwoju w powiatach województwa śląskiego. Wybór jednostki był zdeterminowany wysokim stopniem urbanizacji tego terenu. Badanie zostało oparte na 72 wskaźnikach statystycznych opisujących zrównoważony rozwój jednostek w latach 2011–2014. Dane zostały pobrane za pomocą aplikacji Wskaźniki zrównoważonego rozwoju Głównego Urzędu Statystycznego. W celu określenia cech diagnostycznych zastosowano metodę parametryczną. Do analizy wykorzystano ścieżkę rozwoju Hellwiga, która jest metodą porządkowania liniowego. Wyniki pozwoliły stwierdzić duże zróżnicowanie jednostek pod względem badanych cech. Władze regionu powinny w związku z tym podejmować działania wielokierunkowe i na bieżąco monitorować poziom zrównoważonego rozwoju powiatów.The aim of the study was to analyse the change in the level of sustainable development of Silesian Province districts. The choice of the unit was determined by the high degree of urbanization of this area. The study was based on 72 statistical indicators describing sustainability of districts in 2011–2014. The data was collected using the Central Statistical Office application Sustainable Development Indicators. To determine diagnostic features the parametric method was used. The Hellwig’s development measure, which is a linear ordering method, was used for the analysis. The results showed that the units were highly differentiated in terms of their characteristics. Therefore, regional authorities should take multidirectional actions and monitor the level of sustainable development of districts on the on-going basis
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