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Research

A PCR-high-resolution melt assay for rapid differentiation of nontypeable Haemophilus influenzae and Haemophilus haemolyticus

We have developed a PCR-high-resolution melt (PCR-HRM) assay to discriminate nontypeable Haemophilus influenzae (NTHi) colonies from Haemophilus haemolyticus

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School performance in children with type 1 diabetes: a contemporary population-based study

Our aim was to examine the school performance of children with type 1 diabetes in comparison to their peers, exploring changes over time, and the impact of...

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Supplementation with n-3 long-chain polyunsaturated fatty acids or olive oil in men and women with renal disease

We investigated the effect of supplementing renal patients with 4 g daily of either n-3 long-chain polyunsaturated fatty acids (n-3 LCPUFA) or olive oil (OO)...

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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.

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Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.

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The unmet clinical needs of children with developmental coordination disorder

The aim of this study was to understand the challenges experienced by families obtaining a diagnosis and therapy for developmental coordination disorder (DCD). Parents of 435 children aged 4-18 years with persistent motor difficulties consistent with a diagnosis of DCD completed an online survey. Diagnostic timeline and diagnostic label/s received were examined, along with therapies accessed.

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Pulmonary Gas Exchange Improves over the First Year in Preterm Infants with and without Bronchopulmonary Dysplasia

Right shift of the peripheral oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (PIO2) curve is a sensitive marker of pulmonary gas exchange. The aim of this study was to assess the impact of prematurity and bronchopulmonary dysplasia (BPD) on gas exchange and right-to-left shunt in the neonatal period, and its evolution over the first year of life.

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Community Priority setting for Fetal Alcohol Spectrum Disorder Research in Australia

Introduction Fetal Alcohol Spectrum Disorder (FASD) is a neurodevelopmental disorder caused by prenatal alcohol exposure (PAE). FASD research is a rapidly growing field that crosses multiple disciplines. To ensure research is relevant and meaningful for people living with FASD, their families, and the broader public there is a need to engage community members in setting priorities for research.

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Dietary pattern trajectories across adolescence and early adulthood and their associations with childhood and parental factors

Although adolescent dietary patterns tend to be of poor quality, it is unclear whether dietary patterns established in adolescence persist into adulthood. We examined trajectories across adolescence and early adulthood for 2 major dietary patterns and their associations with childhood and parental factors. Using data from the Western Australian Pregnancy Cohort (Raine Study), intakes of 38 food groups were estimated at ages 14, 17, 20 and 22 y in 1414 participants using evaluated FFQs.

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Food Outlets Dietary Risk (FODR) assessment tool: study protocol for assessing the public health nutrition risks of community food environments

Availability and accessibility of nutritious foods can vary according to the food outlets present within a neighbourhood or community. There is increasing evidence that community food environments influence food choice.