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Research

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. 

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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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The COVID-19 pandemic has led to far-reaching disruptions to health systems, including preventative and curative services for malaria. The aim of this study was to estimate the magnitude of disruptions in malaria case management in sub-Saharan Africa and their impact on malaria burden during the COVID-19 pandemic. We used survey data collected by the World Health Organization, in which individual country stakeholders reported on the extent of disruptions to malaria diagnosis and treatment.

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Policy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy.

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To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.

Research

Pregnancy and early infancy are increased risk periods for severe adverse effects of respiratory infections. Aboriginal and/or Torres Strait Islander (respectfully referred to as First Nations) women and children in Australia bear a disproportionately higher burden of respiratory diseases compared to non-Indigenous women and infants. Influenza vaccines and whooping cough (pertussis) vaccines are recommended and free in every Australian pregnancy to combat these infections.

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The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments.

Research

An empirically based understanding of the factor structure of the restricted and repetitive behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand the correlates and mechanisms underpinning RRB and for measurement development. Therefore, this study aimed to conduct a systematic review and meta-analysis of RRB factor analytic studies.

Research

The vast and growing challenges for human health and all life on Earth require urgent and deep structural changes to the way in which we live. Broken relationships with nature are at the core of both the modern health crisis and the erosion of planetary health. A declining connection to nature has been implicated in the exploitative attitudes that underpin the degradation of both physical and social environments and almost all aspects of personal physical, mental, and spiritual health.

Research

The number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.