998 resultados para Patrick Van


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We report on the fabrication and observation of emergent opto-electronic phenomena in three dimensional, micron-sized van der Waals heterostructures self-assembled from atomic layers of graphene and hexagonal boron nitride in varying ratios.

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One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions.

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Zelfsturend leren is cruciaal voor het leren van leerlingen. Verschillende studies geven echter aan dat zelfsturend leren in het basisonderwijs nauwelijks op gang komt. In dit onderzoek werken onderwijsprofessionals en onderzoekers samen aan het optimaliseren van een professionaliseringsaanpak waarin 55 basisschoolleraren worden getraind en begeleid in het bevorderen van zelfsturend leren van hun leerlingen. Een belangrijk kenmerk van deze aanpak is dat leraren niet worden getraind volgens een formeel professionaliseringstraject, maar dat de professionele ontwikkeling van leraren is ingebed in de eigen lespraktijk en dat leraren van en met elkaar leren. De effectiviteit van de ontwikkelde aanpak wordt onderzocht op de mate van zelfsturend leren, motivatie, metacognitie en leerprestaties van leerlingen en de professionele ontwikkeling van deelnemende leraren.

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The work of Italian-based photo-artist Patrick Nicholas is analysed to show how his re-workings of classic ‘old-master’ paintings can be seen as the art of ‘redaction,’ shedding new light on the relationship between originality and copying. I argue that redactional creativity is both highly productive of new meanings and a reinvention of the role of the medieval Golden Legend. (Lives of the Saints).

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Separately, actinic keratosis (AK) and cutaneous squamous cell carcinoma (SCC) have been associated with cutaneous human papillomavirus (HPV) infections. To further explore the association between HPV infection and SCC development, we determined markers of cutaneous HPV infection within a single population in persons with precursor lesions (AK), cancerous lesions (SCC), and without. Serum and plucked eyebrow hairs were collected from 57 tumor-free controls, 126 AK, and 64 SCC cases. Presence of HPV L1 and E6 seroreactivity and viral DNA were determined for HPV types 5, 8, 15, 16, 20, 24, and 38. Significant positive associations with increasing severity of the lesions (controls, AK, and SCC, respectively) were observed for overall HPV L1 seropositivity (13%, 26%, and 37%) and for HPV8 (4%, 17%, and 30%). In parallel, the proportion of L1 seropositive individuals against multiple HPV types increased from 14% to 39% and 45%. The overall E6 seroreactivity, however, tended to decline with AK and SCC, especially for HPV8 (21%, 11%, and 2%). HPV DNA positivity was most prevalent in the AK cases (54%) compared with the SCC cases (44%) and the tumor-free controls (40%). Among all participants, there was a positive trend between overall HPV DNA positivity and L1 seropositivity, but not E6 seropositivity. Taken together, our data suggest that cutaneous HPV infections accompanied by detectable HPV DNA in eyebrow hairs and HPV L1 seropositivity, but not E6 seropositivity, are associated with an increased risk of AK and SCC.

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Normanton2020 This exhibition showcases the work of 3rd -4th year undergraduate landscape architecture, architecture, Interior Design, Environmental Engineering, Civil Engineering students in response to issues of sustainability in the Gulf of Carpentaria town of Normanton. 16 students and four staff set off on a 2488km journey to undertake the second half of the Carpentaria Project (following Linking Karumba: Creating Sustainable Connections 2008), in the other Carpentaria Shire town of Normanton. This project, Get EnGulfed: Normanton 2020, looked back and forwards to propose strategies strengthening local and regional identities. Our project partners recognised the need for a strategic approach to developing future visions for Normanton’s growth as a socially, culturally, economically and ecologically sustainable town in the decade to 2020. They proposed: Project aims to foster: • Enhanced liveability; • A strengthened expression of town identity; • Expanded sustainable tourism. Primary challenges & opportunities: • Remoteness; • Two seasons: wet & dry; • Local economy; • Society and Cultural Heritage. The Exhibition Four groups of four students produced four strategic planning and design options toward this future: Mud Maps of Normanton: Rhys Belnap, AJ Humphries, Amos Shirreff, Haiku Van Keuk Normanton: Stay Another Day: Belle Dalton, Tom Jordan, Josh Nielsen, Carla Ramsland The Sweet Spot on the Savannah Way: Daniel Lapham, Yvonne Phillips, Patrick Poon, Dan Young Resilience Through Diversity: Jillian Kenny, Tania Metcher, Stephen Orr, Evan Thompson

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Get EnGulfed: Normanton2020 This exhibition showcases the work of 3rd -4th year undergraduate landscape architecture, architecture, Interior Design, Environmental Engineering, Civil Engineering students in response to issues of sustainability in the Gulf of Carpentaria town of Normanton. It presented the work to QUT staff from across the university, as well as industry partners and invited guests. 16 students and four staff set off on a 2488km journey to undertake the second half of the Carpentaria Project (following Linking Karumba: Creating Sustainable Connections 2008), in the other Carpentaria Shire town of Normanton. This project, Get EnGulfed: Normanton 2020, looked back and forwards to propose strategies strengthening local and regional identities. Our project partners recognised the need for a strategic approach to developing future visions for Normanton’s growth as a socially, culturally, economically and ecologically sustainable town in the decade to 2020. They proposed: Project aims to foster: • Enhanced liveability; • A strengthened expression of town identity; • Expanded sustainable tourism. • Primary challenges & opportunities: • Remoteness; • Two seasons: wet & dry; • Local economy; • Society and Cultural Heritage. The Exhibition Four groups of four students produced four strategic planning and design options toward this future: Mud Maps of Normanton: Rhys Belnap, AJ Humphries, Amos Shirreff, Haiku Van Keuk Normanton: Stay Another Day: Belle Dalton, Tom Jordan, Josh Nielsen, Carla Ramsland The Sweet Spot on the Savannah Way: Daniel Lapham, Yvonne Phillips, Patrick Poon, Dan Young Resilience Through Diversity: Jillian Kenny, Tania Metcher, Stephen Orr, Evan Thompson

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We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

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Density functional theory (DFT) is a powerful approach to electronic structure calculations in extended systems, but suffers currently from inadequate incorporation of long-range dispersion, or Van der Waals (VdW) interactions. VdW-corrected DFT is tested for interactions involving molecular hydrogen, graphite, single-walled carbon nanotubes (SWCNTs), and SWCNT bundles. The energy correction, based on an empirical London dispersion term with a damping function at short range, allows a reasonable physisorption energy and equilibrium distance to be obtained for H2 on a model graphite surface. The VdW-corrected DFT calculation for an (8, 8) nanotube bundle reproduces accurately the experimental lattice constant. For H2 inside or outside an (8, 8) SWCNT, we find the binding energies are respectively higher and lower than that on a graphite surface, correctly predicting the well known curvature effect. We conclude that the VdW correction is a very effective method for implementing DFT calculations, allowing a reliable description of both short-range chemical bonding and long-range dispersive interactions. The method will find powerful applications in areas of SWCNT research where empirical potential functions either have not been developed, or do not capture the necessary range of both dispersion and bonding interactions.

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Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13–14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.