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Research

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.

Research

B cell epitope mapping: The journey to better vaccines and therapeutic antibodies

B-cell epitope mapping is an approach that can identify and characterise specific antigen binding sites of B-cell receptors and secreted antibodies. The ability to determine the antigenic clusters of amino acids bound by B-cell clones provides unprecedented detail that will aid in developing novel and effective vaccine targets and therapeutic antibodies for various diseases.

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Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

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Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births

The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.

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Mesothelioma survival prediction based on a six-gene transcriptomic signature

Mesothelioma is a lethal cancer. Despite promising outcomes associated with immunotherapy, durable responses remain restricted to a minority of patients, highlighting the need for improved strategies that better predict outcome. Here, we described the development of a mesothelioma-specific gene signature that accurately predicts survival. 

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Transcriptional rewiring in CD8+ T cells: implications for CAR-T cell therapy against solid tumours

T cells engineered to express chimeric-antigen receptors (CAR-T cells) can effectively control relapsed and refractory haematological malignancies in the clinic. However, the successes of CAR-T cell therapy have not been recapitulated in solid tumours due to a range of barriers such as immunosuppression, poor infiltration, and tumour heterogeneity.

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Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysis

Nonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy

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Respiratory morbidity in Rett syndrome: An observational study

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization

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Exploring Sugary Drink Consumption and Perceptions among Primary-School-Aged Children and Parents in Australia

Sugar-sweetened beverages (SSBs) account for a significant proportion of sugar in the diet of children and are directly associated with obesity in this group. While there have been many studies on adolescent SSB consumption, few studies have examined the predictors of SSB consumption in primary-school-aged children. The aim of this study was to understand the degree to which a child's consumption across a range of beverages is influenced by their own attitudes and by their parents' attitudes and parents' consumption behaviours.

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Addressing challenges in gaining informed consent for a research study investigating falls in people with intellectual disability

This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study

Research

Effect of a campaign with oral polio vaccine on general health: A cluster-randomised trial in rural Guinea-Bissau

Objectives: To investigate in a cluster-randomised trial whether a campaign with oral polio vaccine (C-OPV) reduced mortality and morbidity.

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Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemia

There are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.

Research

The Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder, and intellectual disability (ID), commonly emerge during early development and impact functioning across cognitive, social-emotional, communication, and sensorimotor domains.

Research

"i Think i Could Have Used It Better": Experiences of Youth with High HbA1c Commencing Advanced Hybrid Closed-Loop Therapy in a Clinical Trial Setting - A Qualitative Research

Advanced hybrid closed-loop (AHCL) therapy improves glycemia. However, it is not known if there is an improvement in overall outcomes with AHCL for youth with type 1 diabetes (T1D) at high risk of diabetes-related complications. The study aimed to capture the experiences of youth with suboptimal glycemic control when commencing AHCL therapy in a clinical trial setting. 

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A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular Disorders

Explored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement

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Associations between mental health profiles and later school outcomes

The dual-factor model of mental health proposes that high wellbeing and low distress are necessary to define mental health. This study used latent profile analysis to identify mental health profiles in a sample of 3,587 Australian grade 6 students and explored the association between mental health profiles and school outcomes measured in grades 7 and 9.

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Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.

Our objective is to synthesize the best available evidence to determine the incidence and prevalence of falls in intellectually disabled adults in the community

Research

Developmental trends in young children’s device-measured physical activity and sedentary behaviour

Knowledge of developmental trends in meeting age-specific 24-hour movement behaviour guidelines is lacking. This study describes developmental trends in device-measured physical activity and sedentary time over a three-year period among Western Australian children aged two to seven years, including differences between boys and girls.

Research

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.