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Differential DNA methylation of steatosis and non-alcoholic fatty liver disease in adolescence

Epigenetic modifications are associated with hepatic fat accumulation and non-alcoholic fatty liver disease (NAFLD). However, few epigenetic modifications directly implicated in such processes have been identified during adolescence, a critical developmental window where physiological changes could influence future disease trajectory. To investigate the association between DNA methylation and NAFLD in adolescence, we undertook discovery and validation of novel methylation marks, alongside replication of previously reported marks.

A Single-Centre Retrospective Review of Modified Blalock-Taussig Shunts: A 22-Year Experience

This single-centre retrospective study explores demographics and outcomes of patients who underwent a modified Blalock-Taussig shunt (MBTS) over a 22-year period. The predominant surgical approach in this study is a lateral thoracotomy, in contrast to a midline sternotomy. Risks and outcomes of this approach are compared with national and international literature.

Plasma micronutrient levels and telomere length in children

Telomeres are long hexamer (TTAGGG) repeats at the ends of chromosomes, and contribute to maintenance of chromosomal stability.

Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukaemia

Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukaemia (ALL).

Description of total population hospital admissions for cleft lip and/or palate in Australia

Orofacial clefts are a group of frequently observed congenital malformations often requiring multiple hospital admissions over the lifespan of affected...

Aberrant expression of aldehyde dehydrogenase 1A (ALDH1A) subfamily genes in acute lymphoblastic leukaemia is a common feature of T-lineage tumours

The class 1A aldehyde dehydrogenase (ALDH1A) subfamily of genes encode enzymes that function at the apex of the retinoic acid (RA) signalling pathway.

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.

Early respiratory infection is associated with reduced spirometry in children with cystic fibrosis

We hypothesized that the presence of these markers of cystic fibrosis lung disease in the first 2 years of life would be associated with reduced lung...

Developing a Model to Account for Attrition Bias in a Longitudinal Cohort

Our objective was to develop a method that could be applied in a longitudinal cohort study to account for attrition bias in an investigation of exclusive...