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Blood micronutrients and DNA damage in childrenThis is the first study to examine the associations between a range of blood micronutrient levels and DNA damage in healthy children.
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic 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".
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Serum levels of folate, lycopene, beta-carotene, retinol and vitamin E and prostate cancer riskPrevious studies relating increased serum levels of folate and fat-soluble vitamins to prostate cancer risk have variously shown null associations or to either
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Association of an allele on chromosome 9 and abdominal aortic aneurysmAbdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors.
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Sleep problems in Rett syndromeSleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.
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The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome DatabaseThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
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Cohort Profile: The ORIGINS pregnancy and birth cohortDesiree Dr Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons) MBBS BMedSci PhD FRACP BA (Hons), MPsych,
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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A comparison of parent-reported and self-reported psychosocial function scores of the PedsQL for children with non-severe burnQuality of life of paediatric patients after burn injury is often assessed through parents who may score differently to their child. Non-severe burns are the most common type of burn injury in Western Australia, however, despite low severity and high survival rates, they can cause long term physical and psychosocial problems which need to be detected early in order to provide patients with optimal holistic care.
Research
A pilot study of disease related education and psychotherapeutic support for unresolved grief in parents of children with CFDiagnosis of chronic disease in a child can result in unresolved grief (UG) in parents. This study aimed to evaluate the efficacy of psychological insight-oriented therapy (IOT) as a treatment for UG compared to disease related education in parents of children with cystic fibrosis. Sequence of delivery, first IOT then disease related education (or vice versa) was also examined, to let all participants experience both interventions.