27 research outputs found

    Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation

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    Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia. We report on a 34-year-old patient with sandwich vertebrae, platyspondyly, osteosclerosis of the tubular bones, pathologic fractures, and anemia. In the third decade, he developed osteonecrosis of the jaws, which was progressive in spite of repeated surgical treatment over a period of 11 years. An iliac crest bone biopsy revealed the presence of hypermineralized cartilage remnants, large multinucleated osteoclasts with abnormal morphology, and inadequate bone resorption typical for osteoclast-rich osteopetrosis. After exclusion of mutations in TCIRG1 and CLCN7 we performed trio-based exome sequencing. The novel homozygous splice-site mutation c.261G>A in the gene LRRK1 was found and co-segregated with the phenotype in the family. cDNA sequencing showed nearly complete skipping of exon 3 leading to a frameshift (p.Ala34Profs*33). Osteoclasts differentiated from the patient's peripheral blood monocytes were extremely large. Instead of resorption pits these cells were only capable of superficial erosion. Phosphorylation of L-plastin at position Ser5 was strongly reduced in patient-derived osteoclasts showing a loss of function of the mutated LRRK1 kinase protein. Our analysis indicates a strong overlap of LRRK1-related OSMD with other forms of intermediate osteopetrosis, but an exceptional abnormality of osteoclast resorption. Like in other osteoclast pathologies an increased risk for progressive osteonecrosis of the jaws should be considered in OSMD, an intermediate form of osteopetrosis

    Multi Geometry Critical Heat Flux Observation facility (MORENA): Investigation of Critical Heat Flux (CHF) at 3 K and 5 K subcooled flow boiling - Infrared thermography (IR) data set

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    Experiments have been conducted to investigate the boiling heat transfer and local development of Critical Heat Flux (CHF) at subcooled flow boiling in a heated vertical tube. This data set contains the raw and processed Infrared thermography (IR) data along with measured operational data of the experimental facility for 3 K and 5 K subcooled flow boiling.The data was acquired within a research project which was funded by the Federal Ministry of Economic Affairs and Energy of Germany under grant number 1501473C

    Zwischen „Ausgeliefertsein“ und „Alles im Griff“

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    An investigation of condensation process at COSMEA test facility with ATHLET code

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    Safety is an essential topic in the development process of nuclear power plant. Several Generation III and III+ reactor designs contain passive safety system to control accident without external power. An example is the Emergency Condenser (EC) of the KERENA reactor design. The EC removes heat from the Reactor Pressure Vessel in the case of design accidents. The experimental facility COSMEA at Helmhotz Zentrum Dresden Rossendorf (HZDR) was set up to investigate the flow morphology and heat transfer structure of condensation inside a slightly inclined tube. In this paper, the condensation process in COSMEA was simulated with the thermal hydraulic system codes ATHLET. The performance of the ATHLET heat transfer models were identified. The simulation results were compared against the experiments. The heat flux, condensation rate and temperature of cooling water during the condensation was analyzed

    SIMULATION OF CONDENSATION IN A SLIGHTLY INCLINED TUBE AT COSMEA FACILITY WITH ATHLET CODE

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    Safety is an essential topic in the development process of nuclear power plant. Several Generation III reactor designs contain passive safety system to control accident without the need for external power supply. An example for such passive systems is the Emergency Condenser (EC) of the KERENA reactor design. The system removes heat from the Reactor Pressure Vessel in the case of design basis accidents. The experimental facility COSMEA at Helmhotz Zentrum Dresden Rossendorf (HZDR) was set up to investigate the flow morphology and heat transfer structure of condensation processes. The test rig consists of a 3 m long condenser pipe which is 0.76° inclined with inner diameter 43.3 mm. On the shell side active cooling is performed using the TOPFLOW facility infrastructure. According to the Emergency Condenser Reference design, the experiments of COSMEA are conducted in different pressure levels (5, 15, 25, 45 and 65 bar) with steam mass flow rates up to 1 kg/s. An inlet mixing system was developed to operate the experiment in a stepwise method due to the scale of the test rig. Condensation rates, pressure, temperature and flow rate for different steam fraction are measured. In addition, an x-ray tomography is installed to study the details of the resulting stratified flow structures. Extra heat flux probes are assembled to detect the azimuthal distribution of the heat flux. In this work, COSMEA was simulated the thermal hydraulic system codes ATHLET. The performance of the ATHLET heat transfer models were identified. Primarily, the steady-state model was developed and the simulation results were compared to the experiment. The thermal coupling which considers the heat exchange between outside and inside of the pipe during the condensation was analyzed. Posteriorly the case of modeling transient condensation process was simulated. The influence on thermal coupling parameters, particularly heat transfer coefficient due to pressure drop inside the pipe was predicted and the feasibility and limitation of the system codes were evaluated

    www.rostoff-media.de TABLE OF CONTENTS

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    Program and Abstracts. Leipzig 200

    Preparation and Electrooxidative SO-Extrusion of Halogenated 7-Thiabicyclo[2.2.1]heptene 7-Oxides

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    Halogenated thiophenes have been cycloadded oxidatively to maleimides to give halogenated thiabicyclo[2.2.1]heptene S-oxides which have been subjected to an electrochemical extrusion of SO to give various halogeno-substituted phthalimides

    Quality of federal level strategic environmental assessment – A case study analysis for transport, transmission grid and maritime spatial planning in Germany

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    Strategic environmental assessment (SEA) emerged from Environmental Impact Assessment (EIA) and was developed based on the procedural steps and understanding thereof, but with the goal to fulfil a more ‘strategic’ function. Federal level plans and programmes constitute the highest planning levels in Germany subject to SEA, as SEA for policies is not compulsory. In this article, we analyse the quality and procedural effectiveness of federal level SEA in Germany with the underlying hypothesis that federal level SEA might be more strategic than SEA at other planning levels, as it represents the highest tier. Therefore, we analysed three federal level SEA case studies in Germany according to a set of criteria and indicators based on international research outcomes, including SEA integration into decision-making, tiering, scoping, selection and assessment of alternatives, cumulative effects assessment, public participation, and monitoring. Results demonstrate that the procedural effectiveness of SEA practice at the federal level is limited in Germany, and the making of SEAs proved not to be as ‘strategic’ as its important role prior to subsequent planning processes and outcomes would suggest. Reasons include an alternatives assessment restricted to macro-siting instead of assessing scenarios of demand or system alternatives, tiering limited to general advice without specific guidance for subsequent planning levels, cumulative effects assessment limited to intra-plan effects, a lack of monitoring, and public participation limited to consultation on the environmental report. These findings support results from a variety of international studies. Reasons for limitations have been identified in current SEA regulations, prior policy-making, institutional settings, the institutions’ willingness to learn and limited quality management by the German Federal Environmental Agency. Thus, our recommendations aim to improve quality management and learning by initiating a federal level SEA forum to discuss federal level planning and SEA practice and related issues, expanding the federal EIA portal to SEAs, quality management by the German Federal Environmental Agency in every federal level SEA scoping process and for every federal level environmental report, and further research and development to improve SEA practice. However, the general question for SEA research might be whether SEA contributes to long-term institutional learning processes beyond individual SEA processes, and how those learning processes can be supported, for instance by quality management and capacity building
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