Biribi. Przekład i opracowanie tekstu Sebastian Zacharow

Tłumaczenia z języka oryginału dokonał: Sebastian Zacharow – dr, Uniwersytet Łódzki, Wydział Filologiczny, Instytut Romanistyki, ul. Pomorska 171/173, 90-235, Łódź; e-mail: [email protected]ępnienie publikacji Wydawnictwa Uniwersytetu Łódzkiego finansowane w ramach projektu „Doskonałość naukowa kluczem do doskonałości kształcenia”. Projekt realizowany jest ze środków Europejskiego Funduszu Społecznego w ramach Programu Operacyjnego Wiedza Edukacja Rozwój; nr umowy: POWER.03.05.00-00-Z092/17-00

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnosis and how to test for it. This study aimed to evaluate the use of measurement of urine L-{alpha}-aminoadipic semialdehyde/creatinine ratio and mutation analysis of ALDH7A1 (antiquitin) in investigation of patients with suspected or clinically proven pyridoxine-dependent epilepsy and to characterize further the phenotypic spectrum of antiquitin deficiency. Urinary L-{alpha}-aminoadipic semialdehyde concentration was determined by liquid chromatography tandem mass spectrometry. When this was above the normal range, DNA sequencing of the ALDH7A1 gene was performed. Clinicians were asked to complete questionnaires on clinical, biochemical, magnetic resonance imaging and electroencephalography features of patients. The clinical spectrum of antiquitin deficiency extended from ventriculomegaly detected on foetal ultrasound, through abnormal foetal movements and a multisystem neonatal disorder, to the onset of seizures and autistic features after the first year of life. Our relatively large series suggested that clinical diagnosis of pyridoxine dependent epilepsy can be challenging because: (i) there may be some response to antiepileptic drugs; (ii) in infants with multisystem pathology, the response to pyridoxine may not be instant and obvious; and (iii) structural brain abnormalities may co-exist and be considered sufficient cause of epilepsy, whereas the fits may be a consequence of antiquitin deficiency and are then responsive to pyridoxine. These findings support the use of biochemical and DNA tests for antiquitin deficiency and a clinical trial of pyridoxine in infants and children with epilepsy across a broad range of clinical scenarios

Testing the Effect of Relative Pollen Productivity on the REVEALS Model : A Validated Reconstruction of Europe-Wide Holocene Vegetation

Reliable quantitative vegetation reconstructions for Europe during the Holocene are crucial to improving our understanding of landscape dynamics, making it possible to assess the past effects of environmental variables and land-use change on ecosystems and biodiversity, and mitigating their effects in the future. We present here the most spatially extensive and temporally continuous pollen-based reconstructions of plant cover in Europe (at a spatial resolution of 1° × 1°) over the Holocene (last 11.7 ka BP) using the 'Regional Estimates of VEgetation Abundance from Large Sites' (REVEALS) model. This study has three main aims. First, to present the most accurate and reliable generation of REVEALS reconstructions across Europe so far. This has been achieved by including a larger number of pollen records compared to former analyses, in particular from the Mediterranean area. Second, to discuss methodological issues in the quantification of past land cover by using alternative datasets of relative pollen productivities (RPPs), one of the key input parameters of REVEALS, to test model sensitivity. Finally, to validate our reconstructions with the global forest change dataset. The results suggest that the RPPs.st1 (31 taxa) dataset is best suited to producing regional vegetation cover estimates for Europe. These reconstructions offer a long-term perspective providing unique possibilities to explore spatial-temporal changes in past land cover and biodiversity

Developing a framework for designing humanitarian blockchain projects

Blockchain technology promises to improve the efficiency, transparency, and accountability of humanitarian operations. Yet at the same time, especially the humanitarian context with its characteristic volatility poses unique challenges to any technology. Most prominent are the humanitarian principles that are fundamental to humanitarian operations. These ethical principles are set to protect the most vulnerable populations. Designing blockchain projects in the humanitarian context therefore requires a systematic framework that helps humanitarians make critical choices.While some design instructions can be found for commercial applications, the humanitarian context requires different design principles and guidelines. To address the lack of a design framework for humanitarian blockchain projects, in this paper, we design and validate guidelines for humanitarian blockchain-projects. We use data from two humanitarian blockchain pilots in Jordan and Kenya to design our framework. Thereafter, we benchmark its applicability and relevance against another pilot in Vanuatu. Our framework highlights the need to consider infrastructure, end-users, ethics, stakeholders, and privacy in contexts, scalability and in/out mechanisms in technology, and knowledge/skills and intellectual property in organisation-related design requirements

Towards designing and implementing an empirically grounded research for humanitarian logistics after nepal earthquake

Purpose This paper proposes a research design for effective use of qualitative data from field research in a quantitative analysis of humanitarian logistics. Design/methodology/approach Our research design is composed of qualitative and quantitative components. The qualitative part has four steps: preparation, data collection, data combination and analysis, and interpretation. We triangulate qualitative data through semi-structured interviews, observations, document review, and online surveys. We use frequency analysis to map out qualitative data to themes that were identified through literature review and best practices. After combining data from various sources, we apply content analysis and then interpret the findings. Findings The results of implementing our research design for Nepal case show its effectiveness for capturing the complexities of and the relation between variables in disasters. Its workflow and research methods exclusively enable using field insights to test theories, inform models, and find field driven research directions. We demonstrate these findings through examples from our field research after 2015 Nepal earthquake. Research limitations/implications (if applicable) Limitations: our disaster field research was constrained by the typical short time to prepare/conduct the research, lack of access to key informant and, limited sample size. Furthermore, the results of our research are based on one case. Implications: our research design resulted in an effective and a traceable use of field data for addressing challenges that practitioners were experiencing. Therefore, proposed research design can be adopted in future for conducting and empirically grounded research on HL. Practical implications (if applicable) Proposed research design enables developing field informed models that can be used as a decision support system in the immediate response. Original/value In this paper, we explicitly explain how we translated Nepal field work into a model and what the problems were in such settings.System Engineerin

A Sustainability Maturity Assessment Method for the Humanitarian Supply Chain

The Humanitarian Supply Chain (HSC) is key to successful relief operations. Today, HSC managers faces many challenges: (1) the increasing gap between funding and appeals; (2) donors ask for more transparency and accountability; (3) the growing pressure to switch to sustainable development. To maintain a competitive position (order winner) in the near future, considering sustainability becomes a fundamental addition to the established effectiveness and efficiency measures. In literature, the lack of Decision Support Systems for planning and achieving of sustainability objectives is described as barrier to sustainable humanitarian operations. We propose a sustainability maturity assessment method to improve the sustainability of HSC operations. Using the information gathered from field research with the IFRC as well as from the literature a proof of concept is presented to demonstrate the relevance of the proposal.System Engineerin

Supporting group decision makers to locate temporary relief distribution centres after sudden-onset disasters: A case study of the 2015 Nepal earthquake

In the humanitarian response, multiple decision-makers (DMs) need to collaborate in various problems, such as locating temporary relief distribution centres (RDCs). Several studies have argued that maximising demand coverage, reducing logistics costs and minimising response time are among the critical objectives when locating RDCs after a sudden-onset disaster. However, these objectives are often conflicting and the trade-offs can considerably complicate the situation for finding a consensus. To address the challenge and support the DMs, we suggest investigating the stability of non-dominated alternatives derived from a multi-objective model based on Monte Carlo Simulations. Our approach supports determining what trade-offs actually matter to facilitate discussions in the presence of multiple stakeholders. To validate our proposal, we extend a location-allocation model and apply our approach to an actual data-set from the 2015 Nepal earthquake response. Our analyses show that with the relative importance of covering demands ≤0.4, the trade-offs between logistics costs and response time affects the numbers and locations of RDCs considerably. We show through a small experiment that the outputs of our approach can effectively support group decision-making to develop relief plans in disasters response.Transport and LogisticsSystem Engineerin