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Abstract: We present an overview of a portable underway water quality monitoring system (RUM-Rapid Underway Monitoring), developed by integrating several off-the-shelf water quality instruments to provide rapid, comprehensive, and spatially referenced ‘snapshots’ of water quality conditions. We demonstrate the utility of the system from studies in the Northern Great Barrier Reef (Daintree River) and the Moreton Bay region. The Brisbane dataset highlights RUM’s utility in characterising plumes as well as its ability to identify the smaller scale structure of large areas. RUM is shown to be particularly useful when measuring indicators with large small-scale variability such as turbidity and chlorophyll-a. Additionally, the Daintree dataset shows the ability to integrate other technologies, resulting in a more comprehensive analysis, whilst sampling offshore highlights some of the analytical issues required for sampling low concentration data. RUM is a low cost, highly flexible solution that can be modified for use in any water type, on most vessels and is only limited by the available monitoring technologies. [Copyright &y& Elsevier]

Marginal zone lymphomas (MZLs) are a rare, indolent group of non-Hodgkin lymphomas with different diagnostic, genetic and clinical features and therapeutic implications. The most common is extranodal MZL of mucosa-associated lymphoid tissue, followed by splenic MZL and nodal MZL. Patients with MZL generally have good outcomes with long survival rates but frequently have a relapsing/remitting course requiring several lines of therapy. The heterogeneous presentation and relapsing course present the clinician with several diagnostic and therapeutic challenges. This position statement presents evidence-based recommendations in the setting of Australia and New Zealand., (© 2024 Royal Australasian College of Physicians.)

Objective: This study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder., Methods: We analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease. Haplotype analysis was performed in three reportedly unrelated families., Results: Visual impairment was the initial symptom, with onset at 5-9 years, similar to classic CLN3 disease. Mean time from onset of visual impairment to seizures was 12 years (range = 6-41 years). Various seizure types were reported, most commonly generalized tonic-clonic seizures; focal seizures were present in four patients. Progressive myoclonus epilepsy was not seen. Interictal electroencephalogram revealed mild background slowing and 2.5-3.5-Hz spontaneous generalized spike-wave discharges. Additional interictal focal epileptiform discharges were noted in some patients. Age at death for the three deceased patients was 31, 31, and 52 years. Molecular testing revealed five individuals were homozygous for c.461-280_677 + 382del966, the "common 1-kb" CLN3 deletion. The remaining individuals were compound heterozygous for various combinations of recurrent pathogenic CLN3 variants. Haplotype analysis demonstrated evidence of a common founder for the common 1-kb deletion. Dating analysis suggested the deletion arose approximately 1500 years ago and thus did not represent cryptic familial relationship in this Australian cohort., Significance: We highlight the protracted phenotype of a disease generally associated with death in adolescence, which is a combined focal and generalized epilepsy syndrome with progressive neurological deterioration. The disorder should be suspected in an adolescent or adult patient presenting with generalized or focal seizures preceded by progressive visual loss. The common 1-kb deletion has been typically associated with classic CLN3 disease, and the protracted phenotype has not previously been reported with this genotype. This suggests that modifying genetic factors may be important in determining this somewhat milder phenotype and identification of these factors should be the subject of future research., (© 2023 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Pompe Disease is a spectrum disorder with an evolving phenotype in which diagnostic delay is common. Contributing factors include the rarity of the disorder, its wide clinical spectrum, signs and symptoms that overlap with those of other neuromuscular disorders, variable diagnostic approaches, lack of awareness of the clinical manifestations and difficulties in completing the diagnostic inventory. International updates and recommendations have been published providing diagnostic guidelines and management criteria. However, questions remain in the Australian setting. A panel (two neurologists, one clinical geneticist) reviewed the literature, examined clinical questions of relevance to the Australian setting, and developed a framework for the guidance. A wider panel, comprising the initial panel plus eight additional members, critiqued the framework and contributed clinical guidance within the scope of their respective areas of clinical expertise. The resultant expert consensus recommendations build on currently available data to propose an appropriate management framework incorporating the diagnosis, classification, therapeutic approach, multidisciplinary care, and on-going monitoring of patients with Pompe Disease in the Australian setting. It is hoped that diagnostic delay can be reduced with appropriate recourse to evidence-based insights and practical advice on diagnosis and management tailored to the Australian setting., (Copyright © 2020 Elsevier B.V. All rights reserved.)

The advent of massively parallel sequencing has caused a paradigm shift in the ways cancer is treated, as personalised therapy becomes a reality. More and more laboratories are looking to introduce next generation sequencing (NGS) as a tool for mutational analysis, as this technology has many advantages compared to conventional platforms like Sanger sequencing. In Australia all massively parallel sequencing platforms are still considered in-house in vitro diagnostic tools by the National Association of Testing Authorities (NATA) and a comprehensive analytical validation of all assays, and not just mere verification, is a strict requirement before accreditation can be granted for clinical testing on these platforms. Analytical validation of assays on NGS platforms can prove to be extremely challenging for pathology laboratories. Although there are many affordable and easily accessible NGS instruments available, there are no standardised guidelines as yet for clinical validation of NGS assays. We present an accreditation development procedure that was both comprehensive and applicable in a setting of hospital laboratory for NGS services. This approach may also be applied to other NGS applications in service laboratories., (Copyright © 2016 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.)

Cysticercosis of the central nervous system is seen infrequently in Australia. Most cases occur in adults, but two imported cases of neurocysticercosis in children are described. A 10-year-old Anglo-Indian girl presented with aseptic meningitis, raised intracranial pressure and a block to the flow of cerebrospinal fluid in the lumbar region. Laminectomy showed two cysticerci in the spinal subdural space. A three-year-old boy from Zimbabwe suffered a focal seizure. A granuloma that contained a degenerate cysticercus was found in the left parietal cortex. Serological examination of blood for cysticercosis was performed only in the second case and gave negative results. Examination of stools in both children gave negative results for the presence of parasites, cysts and ova.

An epidemiological study of Q fever infection in a Brisbane meatworks was undertaken. A retrospective 10-year study (1968 to 1977) revealed an average annual incidence of 1% for the nine years excluding 1969, while an outbreak with a 7.9% incidence occurred in 1969. No seasonal distribution was found. Results indicated that cattle form the major source of Coxiella burneti (infectious agent of Q fever) in the meatworks and that the highest risk of infection exists on the cattle slaughter floor. The 1969 outbreak showed a departure from the average pattern of infection in that the highest incidences were recorded in small stock (sheep and swine) workers and non-meat handlers rather than in cattle slaughtermen. This suggested the importance of sheep and/or swine forming a source of the infection. Investigations into the factors contributing to the 1969 outbreak in this meatworks failed to reveal an; conclusive data. Inhalation of infectious dust and aerosols proved to be the major channel of transmission of infection rather than direct inoculation. A serological survey of 139 employees revealed 15.8% prevalence of complement-fixing antibodies to C. burneti, 0% to brucellosis, 0.7% to leptospirosis, and 0.7% to Toxoplasma gondii. Of those with positive titres for Q fever, nine of the 22 subjects did not recall any clinical illness.