Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient

BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys.

CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies.

TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements.

FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.

Digital pathology and image analysis in tissue biomarker research

Digital pathology and the adoption of image analysis have grown rapidly in the last few years. This is largely due to the implementation of whole slide scanning, advances in software and computer processing capacity and the increasing importance of tissue-based research for biomarker discovery and stratified medicine. This review sets out the key application areas for digital pathology and image analysis, with a particular focus on research and biomarker discovery. A variety of image analysis applications are reviewed including nuclear morphometry and tissue architecture analysis, but with emphasis on immunohistochemistry and fluorescence analysis of tissue biomarkers. Digital pathology and image analysis have important roles across the drug/companion diagnostic development pipeline including biobanking, molecular pathology, tissue microarray analysis, molecular profiling of tissue and these important developments are reviewed. Underpinning all of these important developments is the need for high quality tissue samples and the impact of pre-analytical variables on tissue research is discussed. This requirement is combined with practical advice on setting up and running a digital pathology laboratory. Finally, we discuss the need to integrate digital image analysis data with epidemiological, clinical and genomic data in order to fully understand the relationship between genotype and phenotype and to drive discovery and the delivery of personalized medicine.

Haptic Aurality: Listening in a Digital World

I will question modes of listening in network music performance environments, drawing on my experience as a performer listening in these scenarios. I will situate network listening, which I have previously examined as ‘haptic aurality’ (Schroeder, 2009, 2012, 2013) within the context of current music making, and will refer to changes in compositional practices that draw specific attention to listening. I will show that some of these compositional developments play a determining role in articulating a new discourse of listening. French composer Eric Satie’s concept of Furniture Music (in Duckworth, 2005), Pierre Schaeffer’s ideas on reduced listening (1966), Pauline Oliveros’ deep listening practices (2005) as well as digital music platforms all serve to show a development towards a proliferation in listening experiences. I expand this narrative to listening practices in network performance environments, and identify a specific bodily fragility in listening in and to the network. This fragile state of listening and de-centered kind of performative being allow me to draw parallels to the Japanese art form Butoh (Kasai, 1999, 2000; Kasai and Parsons, 2003) and Elaine Scarry’s metaphor of beauty (Scarry, 2001). My own performance experiences, set within the context of several critical texts, allow me to understand network[ed] listening as an ideal corporeal state, which offers a rethinking of linear conceptions of the other and a subject’s own relation with her world. Ultimately, network[ed] listening posits listening as a corporeal and multi-dimensional experience that is continuously being re-shaped by technological, socio-political and cultural concerns.

Haptic Aurality – performing in a digital world

Paper accepted at 2015 ISIS in Utrecht. This presentation will examine the performative body from the viewpoint of the listening body in digital media platforms, and thus investigates the proposed conference issues which are at the intersections of ‘play’, ‘perform’ and ‘participate’.