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Research

Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders

To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively.

Research

Additional Insulin is Required in Both the Early and Late Postprandial Periods for Meals High in Protein and Fat: A Randomised Trial

The pattern and quantity of insulin required for high protein high fat (HPHF) meals is not well understood. This study aimed to determine the amount and delivery pattern of insulin required to maintain euglycaemia for five hours after consuming a HPHF meal compared to a low protein low fat (LPLF) meal.

Research

Targeted Teacher Education to Improve Primary Preservice Teachers’ Knowledge and Understanding of UV and Effective Sun Protection Measures for Children

Teachers are responsible for children at school during peak ultraviolet (UV) times of the day. It is paramount that teachers have knowledge and understanding of UV to effectively protect themselves and their students. The aim of this pilot study was to investigate the effect of a short intervention on preservice teachers’ sun protective behaviours, knowledge and perceived skill to teach sun safety.

Research

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.

Research

Multi-Omic Data Integration Allows Baseline Immune Signatures to Predict Hepatitis B Vaccine Response in a Small Cohort

Vaccination remains one of the most effective means of reducing the burden of infectious diseases globally. Improving our understanding of the molecular basis for effective vaccine response is of paramount importance if we are to ensure the success of future vaccine development efforts. We applied cutting edge multi-omics approaches to extensively characterize temporal molecular responses following vaccination with hepatitis B virus (HBV) vaccine. Data were integrated across cellular, epigenomic, transcriptomic, proteomic, and fecal microbiome profiles, and correlated to final HBV antibody titres.

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"Cultural Security Is an On-Going Journey..." Exploring Views from Staff Members on the Quality and Cultural Security of Services for Aboriginal Families in Western Australia

Cultural security is a key element of accessible services for Indigenous peoples globally, although few studies have examined this empirically. We explored the scope, reach, quality, and cultural security of health and social services available to Aboriginal and/or Torres Strait Islander families in Western Australia (WA), from the point of view of staff from the services.

Research

Characterizing newborn and older infant entries into care in England between 2006 and 2014

The risk of entry to state care during infancy is increasing, both here in England and abroad, with most entering within a week of birth ('newborns'). However, little is known about these infants or of their pathways through care over early childhood.

Research

Poor treatment outcomes of children on highly active antiretroviral therapy: protocol for a systematic review and meta-analysis

While access to highly active antiretroviral therapy (HAART) for children with HIV has expanded and the use of HAART has substantially reduced the morbidity and mortality of children due to HIV, poor treatment outcomes among children with HIV are still a major public health problem globally. The aim of this systematic review and meta-analysis is to quantify treatment outcomes among children with HIV.

Research

Vascular Effects of ACE (Angiotensin-Converting Enzyme) Inhibitors and Statins in Adolescents With Type 1 Diabetes

An increased albumin-creatinine ratio within the normal range can identify adolescents at higher risk of developing adverse cardio-renal outcomes as they progress into adulthood. Utilizing a parallel randomized controlled trial and observational cohort study, we characterized the progression of vascular phenotypes throughout this important period and investigated the effect of ACE (angiotensin-converting enzyme) inhibitors and statins in high-risk adolescents.

Research

BAL Inflammatory Markers Can Predict Pulmonary Exacerbations in Children With Cystic Fibrosis

Pulmonary exacerbations in cystic fibrosis are characterized by airway inflammation and may cause irreversible lung damage. Early identification of such exacerbations may facilitate early initiation of treatment, thereby potentially reducing long-term morbidity. Research question: Is it possible to predict pulmonary exacerbations in children with cystic fibrosis, using inflammatory markers obtained from BAL fluid?