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Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

Genetic and functional evaluation of the role of DLL1 in susceptibility to visceral leishmaniasis in India

Chromosome 6q26-27 is linked to susceptibility to visceral leishmaniasis (VL) in Brazil and Sudan.

Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

Neighborhood Places for Preschool Children's Physical Activity: A Mixed-Methods Study Using Global Positioning System, Geographic Information Systems, and Accelerometry Data

This study adds to the current literature by using a novel device-based method to explore where preschool children are physically active outside of home and childcare settings. This study combined accelerometry with geospatial data to explore the influence of the environment on preschool children's physical activity by objectively identifying the locations where preschool children engage in moderate to vigorous physical activity (MVPA) within and outside of their neighborhood.

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry

Our data suggest that the PDGFRA locus does not transfer a major risk of corneal astigmatism in people of Northern European ancestry.

Effect of short-term use of a continuous glucose monitoring system with a real-time

The objective of this study was to examine whether setting the low glucose alarm of a Guardian® REAL-Time continuous glucose monitoring system (CGMS) to 80 mg/d

Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium - art. no. 5

Tests for Hardy-Weinberg equilibrium (HWE) have been used to detect genotyping error, but those tests have low power unless the sample size is very large.

SunSmart messaging for WA young people

Engaging young people in sun safety messaging is important because they are vulnerable to the harmful long-term effects of too much sun exposure.

What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.

Sex differences in the association of phospholipids with components of the metabolic syndrome in young adults

The aim of this study was to identify sex-specific differences in the metabolome and its relation to components of the metabolic syndrome in a young adult population