Poke G.,Genetic Health Queensland |
Doody M.,Materials Pathology |
Prado J.,Materials Mothers and Materials Childrens Hospital |
Gattas M.,Genetic Health Queensland
Molecular Syndromology | Year: 2012
We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction. Paternal UPD of this chromosome is well known to cause transient neonatal diabetes mellitus. We discuss reported cases of maternal UPD of chromosome 6 and consider whether our patient's features may be due to disordered imprinting or unmasking of an autosomal recessive condition. Copyright © 2012 S. Karger AG, Basel.
Zowawi H.M.,University of Queensland |
Zowawi H.M.,King Saud bin Abdulaziz University for Health Sciences |
Zowawi H.M.,Center for Infection Control |
Sartor A.L.,University of Queensland |
And 20 more authors.
Antimicrobial Agents and Chemotherapy | Year: 2014
The molecular epidemiology and mechanisms of resistance of carbapenem-resistant Enterobacteriaceae (CRE) were determined in hospitals in the countries of the Gulf Cooperation Council (GCC), namely, Saudi Arabia, United Arab Emirates, Oman, Qatar, Bahrain, and Kuwait. Isolates were subjected to PCR-based detection of antibiotic-resistant genes and repetitive sequence-based PCR (rep-PCR) assessments of clonality. Sixty-two isolates which screened positive for potential carbapenemase production were assessed, and 45 were found to produce carbapenemase. The most common carbapenemases were of the OXA-48 (35 isolates) and NDM (16 isolates) types; 6 isolates were found to coproduce the OXA-48 and NDM types. No KPC-type, VIM-type, or IMP-type producers were detected. Multiple clones were detected with seven clusters of clonally related Klebsiella pneumoniae. Awareness of CRE in GCC countries has important implications for controlling the spread of CRE in the Middle East and in hospitals accommodating patients transferred from the region. © 2014, American Society for Microbiology.
Francis J.R.,Royal Darwin Hospital |
McCall B.J.,Metro South Public Health Unit |
Hutchinson P.,Darling Downs Public Health Unit |
Powell J.,Materials Health Services |
And 2 more authors.
Medical Journal of Australia | Year: 2014
• Australian bat lyssavirus (ABLV) infection in humans is rare but fatal, with no proven effective therapy.• ABLV infection can be prevented by administration of a post-exposure prophylaxis regimen of human rabies immunoglobulin and rabies vaccine.• All Australian bats (flying foxes and microbats) should be considered to be carrying ABLV unless proven otherwise.• Any bat-related injury (bite, scratch or mucosal exposure to bat saliva or neural tissue) should be notified immediately to the relevant public health unit — no matter how small the injury or how long ago it occurred.• Human-to-human transmission of ABLV has not been reported but is theoretically possible.• Standard infection control precautions should be employed when managing patients with suspected or confirmed ABLV infection. © 2014, Australasian Medical Publishing Co. Ltd. All rights reserved.
Marshall G.A.,Materials Pathology |
Wijeratne N.G.,Dorevitch Pathology |
Thomas D.,Monash University
Medical Journal of Australia | Year: 2014
Cardiac troponin I and T are the preferred biomarkers for assessing myocardial injury, and the timing of troponin testing is fundamental to its clinical utility. There are arguments for and against the use of troponin testing in the community, and the stance that general practitioners should never order a troponin test can be considered an oversimplifi cation. GPs have a generally suffi cient understanding of the test for use in primary care, and have a better understanding of false-negative troponin test results than falsepositive results. We suggest that hospitalisation, rather than troponin testing, should be the default option for patients with symptoms suggestive of acute coronary syndrome. A single troponin test is reasonable in primary care to exclude the possibility of acute myocardial infarction in asymptomatic low-risk patients whose symptoms resolved at least 12 hours prior. GPs should factor in the complex logistics of troponin testing in the community before ordering a troponin test: results need to be accurate and timely, and might be obtained at a time of day when it is diffi cult to contact the doctor or the patient.
van Eyk C.L.,University of Adelaide |
O'Keefe L.V.,University of Adelaide |
Lawlor K.T.,University of Adelaide |
Samaraweera S.E.,University of Adelaide |
And 4 more authors.
Human Molecular Genetics | Year: 2011
Recent evidence supports a role for RNA as a common pathogenic agent in both the 'polyglutamine' and 'untranslated' dominant expanded repeat disorders. One feature of all repeat sequences currently associated with disease is their predicted ability to form a hairpin secondary structure at the RNA level. In order to inves- tigate mechanisms by which hairpin-forming repeat RNAs could induce neurodegeneration, we have looked for alterations in gene transcript levels as hallmarks of the cellular response to toxic hairpin repeat RNAs. Three disease-associated repeat sequences-CAG, CUG and AUUCU-were specifically expressed in the neurons of Drosophila and resultant common transcriptional changes assessed by microarray analyses. Transcripts that encode several components of the Akt/Gsk3-β signalling pathway were altered as a consequence of expression of these repeat RNAs, indicating that this pathway is a component of the neuronal response to these pathogenic RNAs and may represent an important common therapeutic target in this class of diseases. © The Author 2011. Published by Oxford University Press. All rights reserved.