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Research

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

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Interpretation of recent sudden infant death syndrome rates in Western Australia

Data for recent years show a shift away from a classification of 'SIDS' towards a classification of 'unascertainable', particularly for Aboriginal infants.

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Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

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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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Defining the role of common variation in the genomic and biological architecture of adult human height

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability...

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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.

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Energy drink consumption among young Australian adults: Associations with alcohol and illicit drug use

Australian energy drink users tend to have heavier alcohol consumption patterns be a cigarette smoker and use illicit drugs relative to non-users.

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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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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.