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- 2019
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Journal article (peer-reviewed)
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- Palmer, Elizabeth E., et al.
(author)
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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
- 2023
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In: Molecular Psychiatry. - : SPRINGERNATURE. - 1359-4184 .- 1476-5578. ; 28:2, s. 668-697
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Journal article (peer-reviewed)abstract
- Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
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- Schindler, S., et al.
(author)
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Floodplain management in temperate regions : Is multifunctionality enhancing biodiversity?
- 2013
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In: Environmental Evidence. - : BioMed Central Ltd.. - 2047-2382. ; 2:1
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Journal article (peer-reviewed)abstract
- Background: Floodplains are among the most diverse, dynamic, productive and populated but also the most threatened ecosystems on Earth. Threats are mainly related to human activities that alter the landscape and disrupt fluvial processes to obtain benefits related to multiple ecosystem services (ESS). Floodplain management therefore requires close coordination among interest groups with competing claims and poses multi-dimensional challenges to policy-makers and project managers. The European Commission proposed in its recent Biodiversity Strategy to maintain and enhance European ecosystems and their services by establishing green infrastructure (GI). GI is assumed to provide multiple ecosystem functions and services including the conservation of biodiversity in the same spatial area. However, evidence for biodiversity benefits of multifunctional floodplain management is scattered and has not been synthesised. Methods/design: This protocol specifies the methods for conducting a systematic review to answer the following policy-relevant questions: a) what is the impact of floodplain management measures on biodiversity; b) how does the impact vary according to the level of multifunctionality of the measures; c) is there a difference in the biodiversity impact of floodplain management across taxa; d) what is the effect of the time since implementation on the impact of the most important measures; and e) are there any other factors that significantly modify the biodiversity impact of floodplain management measures? Within this systematic review we will assess multifunctionality in terms of ESS that are affected by an implemented intervention. Biodiversity indicators included in this systematic review will be related to the diversity, richness and abundance of species, other taxa or functional groups. We will consider if organisms are typical for and native to natural floodplain ecosystems. Specific inclusion criteria have been developed and the wide range of quality of primary literature will be evaluated with a tailor-made system for assessing susceptibility to bias and the reliability of the studies. The review is intended to bridge the science-policy interface and will provide a useful synthesis of knowledge for decision-makers at all governance levels. © 2013 Schindler et al.; licensee BioMed Central Ltd.
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- Schindler, S., et al.
(author)
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Multifunctionality of floodplain landscapes : Relating management options to ecosystem services
- 2014
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In: Landscape Ecology. - : Springer Science and Business Media LLC. - 0921-2973 .- 1572-9761. ; 29:2, s. 229-244
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Journal article (peer-reviewed)abstract
- The concept of green infrastructure has been recently taken up by the European Commission for ensuring the provision of ecosystem services (ESS). It aims at the supply of multiple ESS in a given landscape, however, the effects of a full suite of management options on multiple ESS and landscape multifunctionality have rarely been assessed. In this paper we use European floodplain landscapes as example to develop an expert based qualitative conceptual model for the assessment of impacts of landscape scale interventions on multifunctionality. European floodplain landscapes are particularly useful for such approach as they originally provided a high variety and quantity of ESS that has declined due to the strong human impact these landscapes have experienced. We provide an overview of the effects of floodplain management options on landscape multifunctionality by assessing the effects of 38 floodplain management interventions on 21 relevant ESS, as well as on overall ESS supply. We found that restoration and rehabilitation consistently increased the multifunctionality of the landscape by enhancing supply of provisioning, regulation/maintenance, and cultural services. In contrast, conventional technical regulation measures and interventions related to extraction, infrastructure and intensive land use cause decrease in multifunctionality and negative effects for the supply of all three aspects of ESS. The overview of the effects of interventions shall provide guidance for decision makers at multiple governance levels. The presented conceptual model could be effectively applied for other landscapes that have potential for a supply of a high diversity of ESS. © 2014 Springer Science+Business Media Dordrecht.
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- Schindler, S., et al.
(author)
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Multifunctional floodplain management and biodiversity effects : a knowledge synthesis for six European countries
- 2016
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In: Biodiversity and Conservation. - : Springer Netherlands. - 0960-3115 .- 1572-9710. ; 25:7, s. 1349-1382
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Journal article (peer-reviewed)abstract
- Floodplain ecosystems are biodiversity hotspots and supply multiple ecosystem services. At the same time they are often prone to human pressures that increasingly impact their intactness. Multifunctional floodplain management can be defined as a management approach aimed at a balanced supply of multiple ecosystem services that serve the needs of the local residents, but also those of off-site populations that are directly or indirectly impacted by floodplain management and policies. Multifunctional floodplain management has been recently proposed as a key concept to reconcile biodiversity and ecosystem services with the various human pressures and their driving forces. In this paper we present biophysics and management history of floodplains and review recent multifunctional management approaches and evidence for their biodiversity effects for the six European countries Ireland, the Netherlands, Germany, Slovakia, Hungary and the Ukraine. Multifunctional use of floodplains is an increasingly important strategy in some countries, for instance in the Netherlands and Hungary, and management of floodplains goes hand in hand with sustainable economic activities resulting in flood safety and biodiversity conservation. As a result, biodiversity is increasing in some of the areas where multifunctional floodplain management approaches are implemented. We conclude that for efficient use of management resources and ecosystem services, consensual solutions need to be realized and biodiversity needs to be mainstreamed into management activities to maximize ecosystem service provision and potential human benefits. Multifunctionality is more successful where a broad range of stakeholders with diverse expertise and interests are involved in all stages of planning and implementation.
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- Chabuk, Ali, et al.
(author)
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GIS-based assessment of combined AHP and SAW methods for selecting suitable sites for landfill in Al-Musayiab Qadhaa, Babylon, Iraq
- 2017
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In: Environmental Earth Sciences. - : Springer. - 1866-6280 .- 1866-6299. ; 76:5
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Journal article (peer-reviewed)abstract
- Selecting a landfill site is a difficult task because the process depends on many factors and restrictions. Landfill is an optimal solution for the disposal of solid waste in Al-Musayiab Qadhaa, which is located in the northern part of Babylon Governorate. At the moment, there is no landfill site in that area that follows the scientific selection site criteria. For this reason, in this research, fifteen variables were considered (groundwater depth, rivers, soil types; agriculture lands use, land use, elevation, slope, gas pipelines, oil pipelines, power lines, roads, railways, urban centers, villages and archeological sites) using geographic information system (GIS) to find out the best suitable landfill site. In addition, two methods of multi-criteria decision-making were used to derive weights for criterion’s maps on GIS to obtain potential landfill sites. The first method is analytical hierarchy process (AHP) which was used to identify the weight for each criterion from the matrix of pairwise comparisons. The second method was the simple additive weighting (SAW) which is a simple method to solve the problem of the selection landfill sites. After comparison of the results obtained based on combining two final maps resulted from methods of AHP and SAW using GIS environment to determine the pixels percentage of matching and non-matching for two maps, two suitable candidate landfill sites were identified that satisfy the requirements with an area of 7.965–5.952 km2. Area of these sites can accommodate the solid waste generated from the Qadhaa up to 2030.
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- Chabuk, Ali, et al.
(author)
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Landfill Sites Selection Using Analytical Hierarchy Process and Ratio Scale Weighting : Case Study of Al-Mahawil, Babylon, Iraq
- 2017
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In: Engineering. - : Scientific Research Publishing. - 1947-3931 .- 1947-394X. ; 9:2, s. 123-141
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Journal article (peer-reviewed)abstract
- Selecting a landfill site is an optimal solution for the disposal of solid waste inAl-Mahawil Qadhaa, both to fulfill the environmental and scientific requirements,and to comply with regulations and restrictions in this Qadhaa. Presently,there is no landfill site in the area that meets the scientific site selection criteria.Therefore, in this study, two methods of multi-criteria decision-makingand Geographic Information System (GIS) were used to produce a map ofcandidate sites for landfill. Fifteen criteria were entered within GIS: groundwaterdepth, rivers, soil types; agriculture lands use, land use, elevation, slope,gas pipelines, oil pipelines, power lines, roads, railways, urban centers, villagesand archaeological sites. The Analytical Hierarchy Process (AHP) is the firstmethod that was applied to derive criteria weightings using the matrix of pairwisecomparisons. The second method was the Ratio Scale Weighting (RSW),which is based on experts’ opinion, in order to identify the criteria weightingsby giving a ratio score value for each criterion relative to the other criteria.Accuracy assessment (Kappa and Overall Assessment) methods were used tocompare the two raster maps which resulted from the two models, and to determinethe percentage value of matching pixels for the two maps. Two suitablecandidate sites for landfill were identified that satisfy the requirementswith an area of 2.218 km2 - 2.950 km2 in order to accommodate the solidwaste generated from the Qadhaa in the period 2020 to 2030.
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- Chabuk, Ali, et al.
(author)
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Landfill Sites Selection Using MCDM and Comparing Method of Change Detection for Babylon Governorate, Iraq
- 2019
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In: Environmental Science and Pollution Research. - : Springer. - 0944-1344 .- 1614-7499. ; 26:35, s. 35325-35339
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Journal article (peer-reviewed)abstract
- Landfill site`s selection represents a complicated process due to the large number of variables to be adopted. In this study, an arid area (Babylon Governorate as a case study) was selected. It is located in the middle region of Iraq. In this area, the landfills do not satisfy the required international criteria. Fifteen of the most significant criterion were selected for this purpose. For suitable weight for each criterion, the multi criteria decision making (MCDM) methods were applied. These methods are AHP and RSW. In the GIS software 10.5, the raster maps of the chosen criterion were arranged and analysed. The method of change detection was implemented to determine the matching pixels and non-matching pixels. The final results showed that there are two candidate locations for landfills for each district in the governorate (ten sites). The areas of the selected sites were sufficient to contain the cumulative quantity of solid waste from 2020 until 2030.
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