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Research

Neck/shoulder pain, habitual spinal posture and computer use in adolescents: The importance of gender

The study aimed to examine the influence of gender on relationships between computer use, habitual posture and neck/shoulder pain.

Research

Association of an allele on chromosome 9 and abdominal aortic aneurysm

Abdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors.

Research

Serum levels of folate, lycopene, beta-carotene, retinol and vitamin E and prostate cancer risk

Previous studies relating increased serum levels of folate and fat-soluble vitamins to prostate cancer risk have variously shown null associations or to either

Research

Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.

Research

Genome-wide association study identifies five loci associated with lung function

Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD).

Research

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Research

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

The effect of CFTR modulators on structural lung disease in cystic fibrosis

Newly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).

Research

Demographic and clinical predictors of vitamin D status in pregnant women tested for deficiency in Western Australia

This study aimed to describe the vitamin D status of pregnant women in Western Australia and identify predictors of deficiency in pregnancy. A cross-sectional study was conducted using linked data from statewide administrative data collections.