Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

PURPOSE The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome. METHODS Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroencephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplotype analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affymetrix SNP 5.0 array data. RESULTS We observed an early-onset partial epilepsy syndrome with seizure semiology strongly suggestive of temporal lobe epilepsy (TLE), with mild intellectual deficit co-occurring in a large proportion of the patients. Psychiatric morbidity was common in the extended pedigree but did not cosegregate with epilepsy. Linkage analysis definitively excluded previously reported loci, and identified a novel locus on 5q31.3-q32 with an logarithm of the odds (LOD) score of 3 corresponding to the expected maximum in this family. DISCUSSION The syndrome can be classified as familial temporal lobe epilepsy (FTLE) or possibly a new syndrome with mild intellectual deficit. The linked 5q region does not contain any ion channel-encoding genes and is thus likely to contribute new knowledge about epilepsy pathogenesis. Identification of the mutation in this family and in additional patients will define the full phenotypic spectrum.

Doing Digital Composition on the Social Web: Knowledge Processes in Literacy Learning

The power to influence others in ever-expanding social networks in the new knowledge economy is tied to capabilities with digital media production. This chapter draws on research in elementary classrooms to examine the repertoires of cross-disciplinary knowledge that literacy learners need to produce innovative digital media via the “social web”. It focuses on the knowledge processes that occurred when elementary students engaged in multimodal text production with new digital media. It draws on Kalantzis and Cope’s (2008) heuristic for theorizing “Knowledge Processes” in the Learning by Design approach to pedagogy. Learners demonstrate eight “Knowledge Processes” across different subject domains, skills areas, and sensibilities. Drawing data from media-based lessons across several classroom and schools, this chapter examines what kinds of knowledge students utilize when they produce digital, multimodal texts in the classroom. The Learning by Design framework is used as an analytic tool to theorize how students learn when they engaged in a specific domain of learning – digital media production.

Amplified stories: Digital technology and representations of lived experiences

New media technologies and the narrative turn in qualitative research has expanded the methods through which we gather data about and share findings of groups who have traditionally been written about by others rather than telling their own stories to reveal the complexities of their experiences. This chapter explores two projects that use storytelling and technology in an effort to change public perceptions about disadvantaged a community or cohort that have specific circumstances but are a result of policies beyond their control.

Unsteady-Flow Of A Viscous-Fluid Between 2 Parallel Disks With A Time-Varying Gap Width And A Magnetic-Field

The unsteady incompressible viscous fluid flow between two parallel infinite disks which are located at a distance h(t*) at time t* has been studied. The upper disk moves towards the lower disk with velocity h'(t*). The lower disk is porous and rotates with angular velocity Omega(t*). A magnetic field B(t*) is applied perpendicular to the two disks. It has been found that the governing Navier-Stokes equations reduce to a set of ordinary differential equations if h(t*), a(t*) and B(t*) vary with time t* in a particular manner, i.e. h(t*) = H(1 - alpha t*)(1/2), Omega(t*) = Omega(0)(1 - alpha t*)(-1), B(t*) = B-0(1 - alpha t*)(-1/2). These ordinary differential equations have been solved numerically using a shooting method. For small Reynolds numbers, analytical solutions have been obtained using a regular perturbation technique. The effects of squeeze Reynolds numbers, Hartmann number and rotation of the disk on the flow pattern, normal force or load and torque have been studied in detail

Unsteady flow over a stretching surface with a magnetic field in a rotating fluid

The effect of the magnetic field on the unsteady flow over a stretching surface in a rotating fluid has been studied. The unsteadiness in the flow field is due to the time-dependent variation of the velocity of the stretching surface and the angular velocity of the rotating fluid. The Navier-Stokes equations and the energy equation governing the flow and the heat transfer admit a self-similar solution if the velocity of the stretching surface and the angular velocity of the rotating fluid vary inversely as a linear function of time. The resulting system of ordinary differential equations is solved numerically using a shooting method. The rotation parameter causes flow reversal in the component of the velocity parallel to the strerching surface and the magnetic field tends to prevent or delay the flow reversal. The surface shear stresses dong the stretching surface and in the rotating direction increase with the rotation parameter, but the surface heat transfer decreases. On the other hand, the magnetic field increases the surface shear stress along the stretching surface, but reduces the surface shear stress in the rotating direction and the surface heat transfer. The effect of the unsteady parameter is more pronounced on the velocity profiles in the rotating direction and temperature profiles.

Supramolecular control of the magnetic anisotropy in two-dimensional high-spin Fe arrays at a metal interface

Magnetic atoms at surfaces are a rich model system for solid-state magnetic bits exhibiting either classical(1,2) or quantum(3,4) behaviour. Individual atoms, however, are difficult to arrange in regular patterns(1-5). Moreover, their magnetic properties are dominated by interaction with the substrate, which, as in the case of Kondo systems, often leads to a decrease or quench of their local magnetic moment(6,7). Here, we show that the supramolecular assembly of Fe and 1,4-benzenedicarboxylic acid molecules on a Cu surface results in ordered arrays of high-spin mononuclear Fe centres on a 1.5nm square grid. Lateral coordination with the molecular ligands yields unsaturated yet stable coordination bonds, which enable chemical modification of the electronic and magnetic properties of the Fe atoms independently from the substrate. The easy magnetization direction of the Fe centres can be switched by oxygen adsorption, thus opening a way to control the magnetic anisotropy in supramolecular layers akin to that used in metallic thin films.

Flow and heat transfer in a stagnation-point flow over a stretching sheet with a magnetic field

The flow and heat transfer problem in the boundary layer induced by a continuous moving surface is important in many manufacturing processes in industry such as the boundary layer along material handling conveyers, the aerodynamic extrusion of plastic sheet, the cooling of an infinite metalic plate in a cooling bath (which may also be electrolyte). Glass blowing, continuous casting and spinning of fibres also involve the flow due to a stretching surface. Sakiadis [1] was the first to study the flow induced by a semi-infinite moving wall in an ambient fluid. On the other hand, Crane [2] first studied the flow over a linearly stretching sheet in an ambient fluid. Subsequently, Crane [3] also investigated the corresponding heat transfer problem. Since then several authors [4-8] have studied various aspects of this problem such as the effects of mass transfer, variable wall temperature, constant heat flux, magnetic field etc. Recently, Andersson [9] has obtained an exact solution of the Navier-Stokes equations for the MHD flow over a linearly stretching sheet in an ambient fluid. Also Chiam [10] has studied the heat transfer with variable thermal conductivity on a stretching sheet when the velocities of the sheet and the free stream are equal.

Design-driven digital futures: The role of design-led innovation in the creation of online connected communities for new mobility solutions

Online communities have fundamentally changed how humans connected and are now so common they are fundamental to the human experience. As the Internet developed for Web 1.0 to Web 2.0, the functionality of these communities has far exceeded initial expectations. These communities have shifted from simply places to share information to ways to access products and services that bridge the online and offline worlds. This shift has led to the disruption of many industries with the transportation industry being one such sector. Both private transport providers and public transport systems face competition from online communities who are able to link services providers and customers more effectively and innovatively. These types of communities fall under what has been popularised as collaborative consumption or the sharing economy. The aim of this study is to explore the role of Design-led Innovation in the creation of digital futures, specifically online connected communities for successful new mobility solutions. To explore this proposition multiple data collection methods are proposed;Content Analysis, ii) A Comparative Qualitative Study consisting of Qualitative Interviews and Focus Groups / Design Workshops and iii) An Action Research Cycle of Embedded Practice. The multidisciplinary nature of this study grounds this research in a novel position contributing to new knowledge in both the field of design, and also a deeper understanding of the larger fast-growing online community phenomena.

Chronicling the patient journey: Co-creating value with digital health ecosystems

With the introduction of the PCEHR (Personally Controlled Electronic Health Record), the Australian public is being asked to accept greater responsibility for the management of their health information. However, the implementation of the PCEHR has occasioned poor adoption rates underscored by criticism from stakeholders with concerns about transparency, accountability, privacy, confidentiality, governance, and limited capabilities. This study adopts an ethnographic lens to observe how information is created and used during the patient journey and the social factors impacting on the adoption of the PCEHR at the micro-level in order to develop a conceptual model that will encourage the sharing of patient information within the cycle of care. Objective: This study aims to firstly, establish a basic understanding of healthcare professional attitudes toward a national platform for sharing patient summary information in the form of a PCEHR. Secondly, the studies aims to map the flow of patient related information as it traverses a patient’s personal cycle of care. Thus, an ethnographic approach was used to bring a “real world” lens to information flow in a series of case studies in the Australian healthcare system to discover themes and issues that are important from the patient’s perspective. Design: Qualitative study utilising ethnographic case studies. Setting: Case studies were conducted at primary and allied healthcare professionals located in Brisbane Queensland between October 2013 and July 2014. Results: In the first dimension, it was identified that healthcare professionals’ concerns about trust and medico-legal issues related to patient control and information quality, and the lack of clinical value available with the PCEHR emerged as significant barriers to use. The second dimension of the study which attempted to map patient information flow identified information quality issues, clinical workflow inefficiencies and interoperability misconceptions resulting in duplication of effort, unnecessary manual processes, data quality and integrity issues and an over reliance on the understanding and communication skills of the patient. Conclusion: Opportunities for process efficiencies, improved data quality and increased patient safety emerge with the adoption of an appropriate information sharing platform. More importantly, large scale eHealth initiatives must be aligned with the value proposition of individual stakeholders in order to achieve widespread adoption. Leveraging an Australian national eHealth infrastructure and the PCEHR we offer a practical example of a service driven digital ecosystem suitable for co-creating value in healthcare.

Magnetization, magnetotransport and electron magnetic resonance studies of nanoparticles and nanowires of Pr0.5Sr0.5MnO3

In this paper, we present the preparation and characterization of nanoparticles and nanowires of Pr0.5Sr0.5MnO3 (PSMO). The main results of this investigation are as follows: (a) a comparison with the properties of the bulk material shows that the ferromagnetic (FM) transition at 270 K remains unaffected but the anti-ferromagnetic (AFM) transition at TN = 150 K disappears in the nanoparticles, (b) the size induced ground state magnetic phase (below 150 K) is predominantly FM, coexisting with a residual AFM phase, and (c) the temperature dependence of magnetic anisotropy shows complex behaviour, being higher in the nanoparticles at high temperatures and lower at moderately lower temperatures in comparison with the bulk. The results obtained from the extensive magnetization, magnetotransport and electron magnetic resonance studies made on various samples are presented and discussed in detail.

Electrical and mechanical properties of diluted magnetic semiconductor Zn1-xMnxS nanocrystalline films

Nanostructured Zn1-xMnxS films (0 less-than-or-equals, slant x less-than-or-equals, slant 0.25) were deposited on glass substrates by simple resistive thermal evaporation technique. All the films were deposited at 300 K in a vacuum of 2*10-6 m bar. All the films temperature dependence of resistivity revealed semiconducting behaviour of the samples. Hot probe test revealed that all the samples exhibited n-type conductivity. The nanohardness of the films ranges from 4.7 to 9.9 GPa, Young's modulus value ranging 69.7-94.2 GPa.

Echoes: World music from Queensland

Research background: Echoes-World Music in Queensland is a full-length album produced in collaboration with the Brisbane Multicultural Arts Centre (BEMAC). The project involved the recording and production of 13 different artists’ original compositions and arrangements of traditional works, drawing on hybrid digital-analog production techniques. The recording of the album was informed by prior scholarly work by Taylor, Feld, Wong and others. These existing studies have discussed the complexities of intercultural collaboration, and the types of cultural politics that are involved in the recording and distribution of what has been known by the term ‘World Music.’ Aspects of applied ethnomusicology have informed the creative work, as a means of interpreting the implicit and explicit complexities that arise through the recording and dissemination of intercultural creative practice. The project asked the research question, in what ways is intercultural music making effected by collaborative practices in the recording studio? Research contribution: This project has identified that the recording and production of intercultural music making involves a complex amalgam of aspects of live or ‘authentic’ performance practices, alongside highly mediated production practices that are influenced by new forms of digital recording technology. Research significance: The compact disc was launched at a live performance showcase as part of the 2014 Big Sound music industry conference, and was added to feature album rotation for all Virgin Australia flights in February-March 2015. The album has received airplay on Radio National, Edge Radio (Hobart) and Radio Adelaide, and was a Feature Album on PBS FM (Melbourne), 2SER (Sydney), and ArtsoundFM Canberrra. The research context of the work is detailed in Gavin Carfoot (in press), ‘Musical discovery, colonialism and the possibilities of intercultural communication through music’ in Popular Communication.

Josh lovegrove: Infinite

Research background: Infinite by Josh Lovegrove is an extended play album co-produced in collaboration with ARIA-nominated artist Mark Sholtez. The album consists of original songs written by Lovegrove, and songs co-written by Lovegrove, Carfoot and Sholtez. The scholarly context of the project is informed by studies of songwriting and ambiguity by Negus and Astor, new approaches to the study of record production associated with Zagorski-Thomas, and studies of creative labour by Hesmondhalgh and Baker. The project focused on the dynamics of musical performance and production in the recording studio, investigating the interface between the creative tasks of songwriting, production and performance in the recording of popular music. The project asked, in what ways do collaborative songwriting and production processes overlap, how has the nature of creative labour changed as a result of new forms of digital recording technology, and how can these aspects inform developments in the learning and teaching of popular music? Research contribution: The project has demonstrated the nuanced ways that the practices of record production have changed in the face of technological developments, and how this has impacted upon the specific forms and divisions of creative labour. Research significance: The project resulted in a well-reviewed album release that has further established Lovegrove’s reputation as a performer and songwriter. The creative work underpins ongoing research into the nature of popular music production, in particular how the nature of collaborative songwriting can inform innovation in the learning and teaching of popular music.

Mrs Curly and the Norwegian Smoking Pipe

Research background: Mrs Curly and the Norwegian Smoking Pipe is a full-length album and book release, produced in collaboration with renowned multi-instrumentalist Linsey Pollak. The project involved the recording and production of Pollak’s original compositions and arrangements of traditional works, drawing on hybrid digital-analog production techniques. The recording of the album was informed by prior scholarly work by Taylor, Feld, Wong and others. These existing studies have discussed the complexities of intercultural collaboration, and the types of cultural politics that are involved in the recording and distribution of what has been known by the term ‘World Music.’ Aspects of applied ethnomusicology have informed the creative work, as a means of interpreting the implicit and explicit complexities that arise through the recording and dissemination of intercultural creative practice. The project asked the research question, in what ways is intercultural music making effected by collaborative practices in the recording studio? Research contribution: This project has identified that the recording and production of intercultural music making involves a complex amalgam of aspects of live or ‘authentic’ performance practices, alongside highly mediated production practices that are influenced by new forms of digital recording technology. Research significance: The compact disc and book was released and promoted on the Marata Music label. The song ‘Plačam za’ was nominated in the World category of the 2015 Queensland Music Awards. The research context of the work is detailed in Gavin Carfoot, 2015 (in press), ‘Musical discovery, colonialism and the possibilities of intercultural communication through music’ in Popular Communication.