The role of integrated information acquisition and management in the analysis of coastal ecosystem change

This book chapter represents a synthesis of the work which started in my PhD and which has been the conceptual basis for all of my research since 1993. The chapter presents a method for scientists and managers to use for selecting the type of remotely sensed data to use to meet their information needs associated with a mapping, monitoring or modelling application. The work draws on results from several of my ARC projects, CRC Rainforest and Coastal projects and theses of P.Scarth , K.Joyce and C.Roelfsema.

Multi-system neurological disease is common in patients with OPA1 mutations

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal `dominant optic atrophy plus` variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers. Bilateral sensorineural deafness beginning in late childhood and early adulthood was a prominent manifestation, followed by a combination of ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards. We also identified novel clinical presentations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illness. In contrast to initial reports, multi-system neurological disease was associated with all mutational subtypes, although there was an increased risk with missense mutations [odds ratio = 3.06, 95% confidence interval = 1.44-6.49; P = 0.0027], and mutations located within the guanosine triphosphate-ase region (odds ratio = 2.29, 95% confidence interval = 1.08-4.82; P = 0.0271). Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.

Ophthalmic Considerations in the Management of Tessier Cleft 5/9

Purpose: To describe a patient with Tessier cleft number 5 and 9 and review the literature on the ocular impairment and management of this extremely rare anomaly. Methods: Interventional case report and literature review. Results: The literature review showed that the present patient is the second case with clefts 5/9. The ophthalmic consequences of this rare association are virtually unreported. Our case demonstrates that the presence of cleft number 9 adds a cicatricial component on the upper eyelid that severely impairs the dynamics of this lid. The corneal status of the patient was successfully managed with simultaneous upper eyelid lengthening and facial reconstruction. Conclusion: In order to avoid corneal perforation, simultaneous upper and lower eyelid reconstruction is mandatory in cases of cleft 5/9. The affected patients should be continuously followed in order to prevent amblyopia.

The Object Management Group Ontology Definition Metamodel

Report of a submission being made to a major international software engineering standards group, the Object Management Group which ties together OMG standards with World-Wide Web Consortium and International Standards Organization standards. Major industry bodies including IBM are collaborating, and the submission has the support of 24 companies. OMG, W3C and ISO standards strongly influence the industry, especially in combination. Colomb was a major contributor, responsible for 30% of the submission, and the primary author of the paper.

Data grid for the management, reconstruction, analysis and visualisation of archaeological data

In 2007 Associate Professor Jay Hall retires from the University of Queensland after more than 30 years of service to the Australian archaeological community. Celebrated as a gifted teacher and a pioneer of Queensland archaeology, Jay leaves a rich legacy of scholarship and achievement across a wide range of archaeological endeavours. An Archæological Life brings together past and present students, colleagues and friends to celebrate Jay’s contributions, influences and interests.