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Research

Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway resistance, decreased diaphragm strength, and no change in alveolar structure

Mucopolysaccharidosis type IIIA (MPS IIIA) is characterized by neurological and skeletal pathologies caused by reduced activity of the lysosomal hydrolase, sulfamidase, and the subsequent primary accumulation of undegraded heparan sulfate (HS). Respiratory pathology is considered secondary in MPS IIIA and the mechanisms are not well understood. 

Research

Retrospective Examination of Peripubertal Return for Patients of Western Australia's Gender Diversity Service

Children far in advance of pubertal development may be deferred from further assessment for gender-affirming medical treatment until nearer puberty. It is vital that returning peripubertal patients are seen promptly to ensure time-sensitive assessment and provision of puberty suppression treatment where appropriate.

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Outcomes of interventions in neonatal sepsis: A systematic review of qualitative research

While a systematic review exists detailing neonatal sepsis outcomes from clinical trials, there remains an absence of a qualitative systematic review capturing the perspectives of key stakeholders.

Research

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.

Research

Introducing the ORIGINS project: a community-based interventional birth cohort

Non-communicable diseases (NCDs) pose the greatest threat to human health globally. The dramatic rise in early onset NCDs - such as childhood obesity, the allergy epidemic and an increasing burden of mental ill health in children and youth - reflect the profound early impact of modern environments on developing systems.

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The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosis

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations

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Analytical bias in the measurement of plasma 25-hydroxyvitamin D concentrations in infants

To our knowledge, this is the first study to show that the reported 25(OH)D concentration may be influenced by both age and assay type

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Acute Rheumatic Fever and Rheumatic Heart Disease, 1st Edition

Acute Rheumatic Fever and Rheumatic Heart Disease is a concise, yet comprehensive, clinical resource highlighting must-know information on rheumatic heart disease and acute rheumatic fever from a global perspective

Research

Topical antiseptics for chronic suppurative otitis media

The effectiveness and safety profile of antiseptics in the treatment of chronic suppurative otitis media is uncertain