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Showing results for "Neuromuscular disorders "

Early Moves

The Early Moves study is investigating whether a baby’s early movements can predict difficulties with learning (known as cognitive impairment) later in childhood.

Involving young people with lived experience in advancing mental health science: an exploratory qualitative study from Pakistan and India

Meaningful involvement of young People with Lived Experience (PWLE) in co-designing youth mental health interventions has been much emphasized globally. However, there is a scarcity of evidence on involving PWLE of mental health problems in designing, implementing and evaluating mental health interventions, especially in Low- and Middle-Income Countries.

Meet Embrace's new Co-Director

Embrace has appointed Professor of Clinical Psychology Jeneva Ohan as its new Co-Director alongside Professor Helen Milroy AM.

Intention to Engage in Alcohol Use during Pregnancy: The Role of Attitudes and Prototypes

There is no known risk-free level of alcohol use in pregnancy. Despite this, many still believe that occasional drinking is safe. To-date, there is limited evidence of the influences on women's decisions about low to moderate alcohol use in pregnancy.

Don't Get Lost in Translation: Integrating Developmental and Implementation Sciences to Accelerate Real-World Impact on Children's Development, Health, and Wellbeing

Translation of developmental science discoveries is impeded by numerous barriers at different stages of the research-to-practice pipeline. Actualization of the vast potential of the developmental sciences to improve children's health and development in the real world is imperative but has not yet been fully realized.

The orofacial, oromotor, speech, and voice characteristics of adolescents in youth detention: a comparison of groups with and without prenatal alcohol exposure

Language disorder is highly prevalent in youth justice; however, orofacial, oromotor, speech, and voice anomalies have been largely overlooked. There has been some documentation of these among individuals with prenatal alcohol exposure (PAE), and adolescents with PAE are over-represented in youth justice.

A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance

Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.

Hyperactive Nickase Activity Improves Adenine Base Editing

Base editing technologies enable programmable single-nucleotide changes in target DNA without double-stranded DNA breaks. Adenine base editors (ABEs) allow precise conversion of adenine to guanine. However, limited availability of optimized deaminases as well as their variable efficiencies across different target sequences can limit the ability of ABEs to achieve effective adenine editing.

Factors influencing public perceptions of child neglect: A mixed methods study

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect. 

Digital RNase Footprinting of RNA-Protein Complexes and Ribosomes in Mitochondria

RNA-binding proteins and mitochondrial ribosomes have been found to be linchpins of mitochondrial gene expression in health and disease. The expanding repertoire of proteins that bind and regulate the mitochondrial transcriptome has necessitated the development of new tools and methods to examine their molecular functions.