204 research outputs found
Al2O3 Surface Passivation Characterized on Hydrophobic and Hydrophilic c-Si by a Combination of QSSPC, CV, XPS and FTIR
Abstract In this work, the influence of the c-Si surface finishing (hydrophobic/hydrophilic) prior to the deposition of the Al2O3 passivation layer on the passivation quality is investigated. The samples are characterized by a combination of Quasi-Steady-State-PhotoConductance (QSSPC) Capacity-Conductance (CV), X-ray Photoelectron Spectroscopy (XPS) and Fourier Transformed InfraRed (FTIR) measurements. Furthermore, FTIR measurements are used to determine the thickness of interfacial SiOx layer
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in suspected-LS patients. To conclusively diagnose LS and enroll patients in appropriate surveillance programs to reduce morbidity as well as mortality, the functional consequences of these variants of uncertain clinical significance (VUS) must be defined. We present an oligonucleotide-directed mutagenesis screen for the identification of pathogenic MSH6 VUS. In the screen, the MSH6 variant of interest is introduced into mouse embryonic stem cells by site-directed mutagenesis. Subsequent selection for MMR-deficient cells using the DNA damaging agent 6-thioguanine (6TG) allows the identification of MMR abrogating VUS because solely MMR-deficient cells survive 6TG exposure. We demonstrate the efficacy of the genetic screen, investigate the phenotype of 26 MSH6 VUS and compare our screening results to clinical data from suspected-LS patients carrying these variant alleles
Trade-offs in the performance of workflows - quantifying the impact of best practices
Business process redesign is one of the most powerful ways to boost business performance and to improve customer satisfaction [14]. A possible approach to business process redesign is using redesign best practices. A previous study identified a set of 29 different redesign best practices [18]. However, little is known about the exact impact of these redesign best practices on workflow performance. This study proposes an approach that can be used to quantify the impact of a business process redesign project on all dimensions of workflow performance. The approach consists of a large set of performance measures and a simulation toolkit. It supports the quantification of the impact of the implementation of redesign best practices, in order to determine what best practice or combination of best practices leads to the most favorable effect in a specific business process. The approach is developed based on a quantification project for the parallel best practice [8] and is validated with two other quantification projects, namely for the knockout and triage best practices
Mitochondrial disease: Needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase
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51979.pdf (publisher's version ) (Closed access)OBJECTIVE: Firstly, this paper aims to systematically review the mitochondrial disease literature to identify studies assessing the needs and problems in the daily life of children with a mitochondrial disease and of their parents and family. The second aim is to provide more insight into the need for information by the parents of these children during the diagnostic process while in hospital. DESIGN: A systematic review and a pilot study, using a qualitative (focus group interviews; n = 7) and a quantitative (questionnaire; n = 37) design. RESULTS: Mothers reported great socioeconomic and psychoaffective strain and showed psychopathological symptoms in the two studies published with respect to this topic. The pilot study showed that parents considered an honest and interested attitude of the person who is giving the information as most important. Furthermore they wanted oral and written information and a central point where they could go with their questions at any time they felt the need. The need for information increased during the four phases of the diagnostic process and was highest in the fourth phase. CONCLUSIONS: The few studies found in the review, combined with expectations that having a mitochondrial disease must have a great impact on these children and their parents and family, call for more research in their needs and problems. Furthermore, there are gaps in the current information provision to parents of these children. A better understanding of the needs and problems of these children and their family is essential for effective care planning and might result in an improved quality of life
Neo-Atlantis: The Netherlands under a 5-m sea level rise
What could happen to the Netherlands if, in 2030, the sea level starts to rise and eventually, after 100 years, a sea level of 5 m above current level would be reached? This question is addressed by studying literature, by interviewing experts in widely differing fields, and by holding an expert workshop on this question. Although most experts believe that geomorphology and current engineering skills would enable the country to largely maintain its territorial integrity, there are reasons to assume that this is not likely to happen. Social processes that precede important political decisions - such as the growth of the belief in the reality of sea level rise and the framing of such decisions in a proper political context (policy window) - evolve slowly. A flood disaster would speed up the decision-making process. The shared opinion of the experts surveyed is that eventually part of the Netherlands would be abandoned. © 2008 The Author(s)
Does mycorrhization influence herbivore-induced volatile emission in Medicago truncatula?
Symbiosis with mycorrhizal fungi substantially impacts secondary metabolism and defensive traits of colonised plants. In the present study, we investigated the influence of mycorrhization (Glomus intraradices) on inducible indirect defences against herbivores using the model legume Medicago truncatula. Volatile emission by mycorrhizal and non-mycorrhizal plants was measured in reaction to damage inflicted by Spodoptera spp. and compared to the basal levels of volatile emission by plants of two different cultivars. Emitted volatiles were recorded using closed-loop stripping and gas chromatography/mass spectrometry. The documented volatile patterns were evaluated using multidimensional scaling to visualise patterns and stepwise linear discriminant analysis to distinguish volatile blends of plants with distinct physiological status and genetic background. Volatile blends emitted by different cultivars of M. truncatula prove to be clearly distinct, whereas mycorrhization only slightly influenced herbivore-induced volatile emissions. Still, the observed differences were sufficient to create classification rules to distinguish mycorrhizal and non-mycorrhizal plants by the volatiles emitted. Moreover, the effect of mycorrhization turned out to be opposed in the two cultivars examined. Root symbionts thus seem to alter indirect inducible defences of M. truncatula against insect herbivores. The impact of this effect strongly depends on the genetic background of the plant and, hence, in part explains the highly contradictory results on tripartite interactions gathered to date
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Lysine acetyltransferase 6A (KAT6A) and its paralog KAT6B form stoichiometric complexes with bromodomain- and PHD finger-containing protein 1 (BRPF1) for acetylation of histone H3 at lysine 23 (H3K23). We report that these complexes also catalyze H3K23 propionylati
Specific bottom–up effects of arbuscular mycorrhizal fungi across a plant–herbivore–parasitoid system
The majority of plants are involved in symbioses with arbuscular mycorrhizal fungi (AMF), and these associations are known to have a strong influence on the performance of both plants and insect herbivores. Little is known about the impact of AMF on complex trophic chains, although such effects are conceivable. In a greenhouse study we examined the effects of two AMF species, Glomus intraradices and G. mosseae on trophic interactions between the grass Phleum pratense, the aphid Rhopalosiphum padi, and the parasitic wasp Aphidius rhopalosiphi. Inoculation with AMF in our study system generally enhanced plant biomass (+5.2%) and decreased aphid population growth (−47%), but there were no fungal species-specific effects. When plants were infested with G. intraradices, the rate of parasitism in aphids increased by 140% relative to the G. mosseae and control treatment. When plants were associated with AMF, the developmental time of the parasitoids decreased by 4.3% and weight at eclosion increased by 23.8%. There were no clear effects of AMF on the concentration of nitrogen and phosphorus in plant foliage. Our study demonstrates that the effects of AMF go beyond a simple amelioration of the plants’ nutritional status and involve rather more complex species-specific cascading effects of AMF in the food chain that have a strong impact not only on the performance of plants but also on higher trophic levels, such as herbivores and parasitoids
Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations
Purpose: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."Methods: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.Results: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with age-targeted programs with lower age thresholds. Conclusion: Universal or <70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world
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