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Research

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals

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Are low sun exposure and/or Vitamin D risk factors for type 1 diabetes

Evidence supports that higher sun exposure and/or vitamin D sufficiency in pregnancy, or supplementation in early life, decreases type 1 diabetes risk

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Maternal dietary intake in pregnancy and lactation and allergic disease outcomes in offspring

As the prevalence of allergic disease dramatically rises worldwide, prevention strategies are increasingly being considered.

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Comparison of outcomes following a cytological or histological diagnosis of malignant mesothelioma

This study examines survival differences between patients with epithelioid MM diagnosed by cytology only and other subtypes diagnosed by histology.

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Chest imaging in cystic fibrosis studies: What counts, and can be counted?

The aim of this study is to characterize the role of currently available CT and MRI markers in clinical studies, and to discuss challenges with CF studies.

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Choice making in Rett syndrome: a descriptive study using video data

We describe the choice-making abilities of girls and women with Rett syndrome.

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Air trapping in early cystic fibrosis lung disease-Does CT tell the full story?

Mosaic attenuation on expiratory chest computed tomography (CT) is common in early life cystic fibrosis (CF) and often referred to as "air trapping"

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Irreversible growth plate fusions in children with medulloblastoma treated with a targeted hedgehog pathway inhibitor

We report on 3 children treated with vismodegib who developed widespread growth plate fusions that persist long after cessation of therapy.

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Can polymorphisms in the fatty acid desaturase (FADS) gene cluster alter the effects of fish oil supplementation on plasma and erythrocyte fatty acid profiles? An exploratory study

Overall results of this preliminary study suggest that supplementation with fish oil may only significantly increase DHA in minor allele carriers of FADS1 SNPs. Further research is required to confirm this novel finding.