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Research

Fine particulate matter and risk of preterm birth and pre-labor rupture of membranes in Perth, Western Australia 1997-2007: A longitudinal study

A recent longitudinal study reported an association between fine particulate (PM2.5) exposure and preterm birth (PTB) in a US cohort.

Research

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

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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...

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Assisted reproductive technology and birth defects: A systematic review and meta-analysis

It has been 10 years since we carried out a systematic search of the literature on birth defect risk in infants born following assisted reproductive...

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Drug-gene modeling in pediatric T-cell acute lymphoblastic leukemia highlights importance of 6-mercaptopurine for outcome

This study advances our understanding of drug resistance in T-ALL and provides new markers for patient stratification.

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Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Research

Echocardiographic predictors of surgical outcomes in pulmonary atresia with intact ventricular septum and development of a discriminatory calculator

Pulmonary atresia with intact ventricular septum is a rare congenital cardiac lesion with significant anatomical heterogeneity. Surgical planning of borderline cases remains challenging and is primarily based on echocardiography. The aim was to identify echocardiographic parameters that correlate with surgical outcome and to develop a discriminatory calculator.

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Gene dysregulation in acute HIV-1 infection – early transcriptomic analysis reveals the crucial biological functions affected

Transcriptomic analyses from early human immunodeficiency virus (HIV) infection have the potential to reveal how HIV causes widespread and lasting damage to biological functions, especially in the immune system. Previous studies have been limited by difficulties in obtaining early specimens.

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Impact of ventilation tube insertion on long-term language outcomes at 6 and 10 years of age: A prospective pregnancy cohort study

Investigating the impact of early childhood ventilation tube insertion (VTI) on long-term language outcomes. 

Research

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.