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Research

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.

Research

Taste-Masked Flucloxacillin Powder Part 1: Optimisation of Fabrication Process Using a Mixture Design Approach

It is extremely challenging to formulate age-appropriate flucloxacillin medicines for young children, because flucloxacillin sodium (FS) has a lingering, highly bitter taste, dissolves quickly in saliva, and requires multiple daily dosing at relatively large doses for treating skin infections. In this paper, we describe a promising taste-masked flucloxacillin ternary microparticle (FTM) formulation comprising FS, Eudragit EPO (EE), and palmitic acid.

Research

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.

Research

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.

Research

Insights into the associations between the gut microbiome, its metabolites and heart failure

Heart failure (HF) is the end stage of most cardiovascular diseases and remains a significant health problem globally. We aimed to assess whether patients with left ventricular ejection fraction ≤45% had alterations in both the gut microbiome profile and production of associated metabolites when compared to a healthy cohort.

Research

Time-out for well-being: A mixed methods evaluation of attitudes and likelihood to engage in different types of online emotional well-being programmes in the perinatal period

Positive maternal mental health during the perinatal period contributes to general well-being and positive emotional bonds with the child, encouraging an optimal developmental trajectory. Online interventions to enhance maternal well-being and develop coping skills, such as meditation-based interventions, can be a low-cost way to improve mother and child outcomes.

Research

A study protocol for community implementation of a new mental health monitoring system spanning early childhood to young adulthood

Findings from longitudinal research, globally, repeatedly emphasise the importance of a taking an early life course approach to mental health promotion; one that invests in the formative years of development, from early childhood to young adulthood, just prior to the transition to parenthood for most. While population monitoring systems have been developed for this period, they are typically designed for use within discrete stages.

Research

Kids Voices, the perioperative experience of emergency surgery from children's perspectives: A qualitative study

The study aimed to better understand children's emergency perioperative experience, a little researched topic. Current literature shows discrepancies between child and adult perceptions for the same healthcare experience. Acquisition of knowledge from the child's perspective can be utilized to improve perioperative care.

Research

Implementing a combined individual placement and support and vocational peer work program in integrated youth mental health settings

To describe the implementation and outcomes of a combined individual placement and support (IPS) and vocational peer work program for young people with mental ill-health.

Research

Arsenic and respiratory disease

Arsenic is the only environmental toxin that has been linked to both malignant and nonmalignant respiratory disease following ingestion, rather than inhalation, making arsenic a unique toxicant to the respiratory system. Chronic exposure to arsenic has been associated with the development of respiratory symptoms, impaired lung function, and chronic lung disease.