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St Leonards, Australia

Kinsella J.A.,The Adelaide and Meath Hospital | O'Brien W.,Gosford Hospital | Mullins G.M.,Gosford Hospital | Brewer J.,Pacific Laboratory Medicine Services | Whyte S.,Gosford Hospital
Journal of Clinical Neuroscience

Primary angiitis of the central nervous system (PACNS), also called primary CNS vasculitis, is an idiopathic inflammatory condition affecting only intracranial and spinal cord vessels, particularly medium-sized and smaller arteries and arterioles. Angiography and histopathology typically do not reveal evidence of systemic vasculitis.1,2 Histopathology usually reveals granulomatous inflammation affecting arterioles and small arteries of the parenchyma and/or leptomeninges, similar to that seen in Takayasu's or giant cell arteritis.1-3 We report a patient with biopsy-proven PACNS with giant cells and cerebral mass effect on MRI. Magnetic resonance angiography and cerebral angiography appeared normal and there was no evidence of extracranial vasculitis. © 2009 Elsevier Ltd. All rights reserved. Source

Woolnough C.,University of Sydney | Wang Y.,University of Sydney | Kan C.Y.,University of Sydney | Morris J.M.,University of Sydney | And 4 more authors.
Microvascular Research

Placental development requires coordinated angiogenesis regulated by multiple factors including angiopoietins. Previously we demonstrated that the concentration of angiopoietin-2 (Ang-2) in the sera of women rises markedly in pregnancy in early gestation. This increase is reduced in pregnancies subsequently complicated by intrauterine growth restriction (IUGR). We now show that the concentration of Ang-2, but not Ang-1, in maternal serum is increased during normal pregnancy, peaking at the end of the first trimester. We also demonstrate that a key source of the elevated Ang-2 levels during pregnancy is decidual endothelial cells (DECs) but not cytotrophoblasts. Secretion of Ang-2 by DECs relies on the release from intracellular stores and the synthesis of new Ang-2 protein and is regulated by serum factors at a translational level. Further studies on the role of Ang-2 during pregnancy are warranted as well as the evaluation of Ang-2 as a marker to predict adverse pregnancy outcomes. © 2012. Source

Siah S.P.,C O Virology Research Laboratories | Merif J.,SEALS | Kaur K.,C O Virology Research Laboratories | Nair J.,C O Virology Research Laboratories | And 8 more authors.

We aimed to streamline the diagnosis of gastrointestinal disease by producing multiplexed real time polymerase chain reaction (PCR) panels employing universal sample processing for DNA and RNA containing pathogens. A total of 487 stored, previously characterised stool samples comprising bacterial, viral, protozoan and Clostridium difficile positive samples were tested using four multiplexed real time PCR panels. A further 81 pre-selected clinical samples from a teaching hospital were included to provide an independent validation of assay performance. Improved sensitivity was achieved using the protozoan panels and 16 more mixed infections were observed compared to tests with conventional methods. Using the C. difficile panels, 100% sensitivity was achieved when compared to the gold standard of toxigenic culture. In addition, hypervirulent strains including ribotype 027 could be identified directly from primary sample without the need for ribotyping methods. Bacterial and viral panels detecting Salmonella, Shigella, Campylobacter, Yersinia enterocolitica, Listeria monocytogenes, norovirus groups I and II, rotavirus A, astrovirus, sapovirus, rotavirus B, adenovirus and adenovirus 40/41 performed aswell as conventional methods, whilst allowing detection in 3 hours from processing to result. Multiplex real time PCR panels with universal sample preparation allow streamlined, rapid diagnosis of gastrointestinal pathogens whilst extending the characterisation of pathogens present in stool samples from affected patients. © 2013 Royal College of Pathologists of Australasia. Source

Conway D.P.,University of New South Wales | Conway D.P.,Short Street Sexual Health Center | Holt M.,University of New South Wales | Couldwell D.L.,Western Sydney Sexual Health Center | And 33 more authors.
Journal of the International AIDS Society

Introduction: HIV diagnoses among gay and bisexual men have increased over the past decade in Australia. HIV point-of-care testing (POCT) was introduced in Australia in 2011 as a strategy to increase HIV testing by making the testing process more convenient. We surveyed gay and bisexual men undergoing POCT to assess barriers to HIV testing and characteristics associated with not having previously tested for HIV (never testing). Methods: During 2011 and 2012, gay and bisexual men who were undergoing POCT at four Sydney sexual health clinics self-completed questionnaires assessing testing history and psychological and structural barriers to HIV testing. Bivariate and multivariate logistic regression was used to assess associations between patient characteristics and never testing. Results: Of 1093 participants, 981 (89.9%) reported ever testing for HIV and 110 (10.1%) never testing. At least one barrier to testing was reported by 1046 men (95.7%), with only 47 men (4.3%) not reporting any barrier to testing. The most commonly reported barriers to testing were annoyance at having to return for results (30.2%), not having done anything risky (29.6%), stress in waiting for results (28.4%), being afraid of testing positive (27.5%) and having tested recently (23.2%). Never testing was independently associated with being non-gay-identified (adjusted odds ratio [AOR]: 1.9; 95% confidence interval [CI]: 1.1-3.2), being aged less than 25 years (AOR: 2.4; 95% CI: 1.6-3.8), living in a suburb with few gay couples (AOR: 1.9; 95% CI: 1.2-3.0), being afraid of testing HIV-positive (AOR: 1.6; 95% CI: 1.0-2.4), not knowing where to test (AOR: 3.8; 95% CI: 1.3-11.2) and reporting one or no sexual partners in the last six months (AOR: 2.7; 95% CI: 1.2-6.2). Conclusions: Barriers to HIV testing were commonly reported among the clinic-based gay and bisexual men in this study. Our findings suggest further health promotion and prevention strategies are needed to address the knowledge, attitudes and behavioural factors associated with never testing. © 2015 Conway DP et al. Source

Shoubridge C.,Genetics and Molecular Pathology | Shoubridge C.,University of Adelaide | Tarpey P.S.,Wellcome Trust Sanger Institute | Abidi F.,Jc Self Research Institute | And 19 more authors.
Nature Genetics

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing. © 2010 Nature America, Inc. All rights reserved. Source

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