Search
Research
New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individualsWe investigated immune and non-immune related genes to determine other factors required for the development of Abacavir hypersensitivity syndrome
Research
Clinical experience with SUBA-itraconazole at a tertiary paediatric hospitalItraconazole remains a first-line antifungal agent for certain fungal infections in children, including allergic bronchopulmonary aspergillosis (ABPA) and sporotrichosis, but poor attainment of therapeutic drug levels is frequently observed with available oral formulations. A formulation of 'SUper BioAvailability itraconazole' (SUBA-itraconazole; Lozanoc®) has been developed, with adult studies demonstrating rapid and reliable attainment of therapeutic levels, yet paediatric data are lacking.
Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Research
Tobacco smoking and mental disorders in Australian adolescentsThis study aimed to (1) examine the strength of the association between mental disorders/mental health problems, risk behaviours and tobacco smoking among Australian adolescents, (2) compare rates of tobacco smoking among Australian adolescents with major depressive disorder, attention-deficit/hyperactivity disorder and/or conduct disorder in 2013/14 vs 1998, and (3) identify the extent to which an association between tobacco smoking and mental health problems among adolescents can be attributed to non-mental health risk factors.
Research
Targeting cytokine- and therapy-induced PIM1 activation in preclinical models of T-cell acute lymphoblastic leukemia and lymphomaIL7 and glucocorticoids coordinately drive aberrant activation of PIM1 and suggests that T-ALL and T-LBL patients could benefit from PIM inhibition
Research
Germline Elongator mutations in Sonic Hedgehog medulloblastomaGenetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers
Research
Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospitalThis retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital
Research
Vitamin D receptor polymorphisms are associated with severity of wheezing illnesses and asthma exacerbations in childrenThese findings suggest that genetic variants at the VDR locus may play a role in acute wheeze/asthma severity in children
Research
The detection of bile acids in the lungs of paediatric cystic fibrosis patients is associated with altered inflammatory patternsOur work has identified a clinically relevant host-derived factor that may participate in shaping early events in the aetiology of CF respiratory disease
Research
A spatio-temporal analysis to identify the drivers of malaria transmission in BhutanHot spots and clusters of both species were isolated in the central southern part of Bhutan bordering India