ARDC Research Link Australia

ORCID Profile
Orcid icon. 0000-0003-4191-3319

Current Organisations
Royal Children's Hospital Melbourne , University of Manchester , University of Melbourne , Monash University , Universiti Kebangsaan Malaysia , University of Oxford

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Publications

Publication

Association analysis of the interleukin 17 genes IL17A and IL17F as potential osteoarthritis susceptibility loci

Publisher: BMJ

Date: 04-2006

DOI: 10.1136/ARD.2005.045922

Publication

Effectiveness of enhanced video‐based learning on removable partial denture module

Publisher: Wiley

Date: 07-01-2021

DOI: 10.1111/EJE.12653

Abstract: The application of video‐based learning in dentistry has been widely investigated however, the nature of on‐screen video enhancements of the video has been minimally explored in the literature. This study investigated the effectiveness of an in‐class and on‐demand enhanced video to support learning on removable partial dentures in terms of knowledge acquisition, perception and clinical skill performance. Fifty‐four dental students enrolled in 2018 were recruited as participants and assigned to two groups. Both groups were given the same lecture and asked to watch the same video in either the enhanced or non‐enhanced version. The enhanced video was modified with the contemporaneous subtitle of the presenters’ dialogue, text bullet points and summary text pages. The knowledge acquisition from the two types of video was subjected to pre‐ and post‐tests one month after the students watched the video. A questionnaire was used to evaluate the students’ perceptions of the learning experience and a performance test on practical skills was performed after six weeks. All the students responded to the test (100%). The enhanced video demonstration improved the students’ short‐term knowledge acquisition after they watched the video, with an average score of 1.59 points higher in the enhanced group than in the non‐enhanced group ( p .05). The practical performance did not differ between the two groups. The students were more likely accepted the enhanced video as a replacement of the existing teaching method rather than a teaching supplement (70.3%). The application of the enhanced video demonstration resulted in a better theoretical knowledge retention but not practical performance. Students also preferred watching video to using conventional learning methods.

Publication

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Publisher: MDPI AG

Date: 17-01-2022

DOI: 10.3390/IJMS23020986

Abstract: Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2 previously called YueF) is a mitochondrial inner membrane/matrix-residing protein and is reported to regulate mitochondrial function. The clinical importance of PYROXD2 has been unclear, and little is known of the protein’s precise biological function. In the present paper, we report biallelic variants in PYROXD2 identified by genome sequencing in a patient with suspected mitochondrial disease. The child presented with acute neurological deterioration, unresponsive episodes, and extreme metabolic acidosis, and received rapid genomic testing. He died shortly after. Magnetic resonance imaging (MRI) brain imaging showed changes resembling Leigh syndrome, one of the more common childhood mitochondrial neurological diseases. Functional studies in patient fibroblasts showed a heightened sensitivity to mitochondrial metabolic stress and increased mitochondrial superoxide levels. Quantitative proteomic analysis demonstrated decreased levels of subunits of the mitochondrial respiratory chain complex I, and both the small and large subunits of the mitochondrial ribosome, suggesting a mitoribosomal defect. Our findings support the critical role of PYROXD2 in human cells, and suggest that the biallelic PYROXD2 variants are associated with mitochondrial dysfunction, and can plausibly explain the child’s clinical presentation.

Publication

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis

Publisher: Walter de Gruyter GmbH

Date: 25-08-2022

DOI: 10.1515/CCLM-2022-0473

Abstract: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria ( GNE variants) and infantile sialic acid storage disease/Salla disease ( SLC17A5 variants). Traditionally, UFSA has been measured using specific single-plex methodology in relatively small cohorts of patients with clinical symptoms suggestive of these disorders. The use of multiplex tandem mass spectrometry urine screening (UMSMS) has meant that UFSA can be measured semi-quantitatively in a much larger cohort of patients being investigated for suspected metabolic disorders. We hypothesised that the neuraminidase of Streptococcus pneumoniae may release free sialic acid from endogenous sialylated glycoconjugates and result in increased UFSA levels. We conducted a retrospective review of clinical records of patients who were identified as having S. pneumoniae infection and who also had UMSMS at the time of their acute infection. We identified three cases of increased UFSA detected by UMSMS screening that were secondary to S. pneumoniae sepsis. Additional testing ruled out genetic causes of increased UFSA in the first patient. All three patients had overwhelming sepsis with multiorgan dysfunction which was fatal. Glycosylation abnormalities consistent with the removal of sialic acid were demonstrated in serum transferrin patterns in one patient. We have demonstrated in a retrospective cohort that elevation of UFSA levels have been observed in cases of S. pneumoniae sepsis. This expands our knowledge of UFSA as a biomarker in human disease. This research demonstrates that infection with organisms with neuraminidase activity should be considered in patients with unexplained increases in UFSA.

Publication

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

Publisher: Wiley

Date: 19-08-2023

DOI: 10.1002/JMD2.12390

Abstract: Contiguous ABCD1 / DXS1357E deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E ). Only nine in iduals with this diagnosis have been reported in the medical literature to date. Intragenic loss‐of‐function variants in BCAP31 cause the deafness, dystonia, and cerebral hypomyelination syndrome (DDCH). Isolated pathogenic intragenic variants in ABCD1 are associated with the most common peroxisomal disorder, X‐linked adrenoleukodystrophy (X‐ALD), a single transporter deficiency, which in its more severe cerebral form is characterised by childhood‐onset neurodegeneration and high levels of very‐long‐chain fatty acids (VLCFA). While increased VLCFA levels also feature in CADDS, the few patients described to date all presented as neonates with a severe phenotype. Here we report a tenth in idual with CADDS, a male infant with dysmorphic facial features who was diagnosed through ultra‐rapid whole genome sequencing (WGS) in the setting of persistent cholestatic liver disease, sensorineural hearing loss, hypotonia and growth failure and developmental delay. Biochemical studies showed elevated VLCFA and mildly reduced plasmalogens. He died at 7 months having developed pancreatic exocrine deficiency and interstitial lung disease, two features we propose to be possible extensions to the CADDS phenotype. We also review the genetic, phenotypic, and biochemical features in previously reported in iduals with CADDS.

Publication