نتایج جستجو برای: larsson syndrome
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BACKGROUND Children with Down syndrome (DS), who are likely to suffer from a large number of musculoskeletal problems, tend to have a unique pattern of walking in clinical settings. Despite such apparent uniqueness, few studies have empirically investigated gait development pattern in DS children, especially at an earlier age. We therefore conducted gait analysis in young DS children who are pr...
A number of studies have investigated the roles played by individual and social learning in cultural phenomena and the relative advantages of the two learning strategies in variable environments. Because social learning involves the acquisition of behaviours from others, its utility depends on the availability of 'cultural models' exhibiting adaptive behaviours. This indicates that social netwo...
Background Health care organizations are utilizing quality and safety (QS) teams as a mechanism to optimize care. However, there is a lack of evidence-informed best practices for creating and sustaining successful QS teams. This study aimed to understand what health care leaders viewed as barriers and facilitators to establishing/implementing and measuring the impact of Canadian acute care QS t...
Ceramide is the key intermediate in the pathway of sphingolipid (SL) biosynthesis (1) and an important intracellular signaling molecule (2,3). Ceramide consists of a sphingoid long chain base to which a fatty acid is attached via an amide bond (Fig. 1). When the chemical composition of SLs was first determined in the 1940s (4), stearic acid (C18:0) was identified as the major fatty acid attache...
white dots in the ocular fundus which appear after several years of age,3 and their occurrence strongly suggests SLS.4 Macrocephaly is not a characteristic or common finding in SLS. Mutation analysis of the ALDH3A2 gene is a highly sensitive method of confirming the diagnosis of SLS.4 More than 90 pathogenic variants of ALDH3A2 have been identified to date.1 The diagnosis of SLS can be confirme...
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