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Research

CDKL5 deficiency disorder is a rare and severe developmental and epileptic encephalopathy that has profound effects on communication. It is essential that communication be measured accurately for upcoming gene therapy trials. The Communication Inventory Disability-Observer Reported was developed from a framework of communication derived from parent/caregiver interview data in consultation with disability and communication experts, and after reviewing concepts in existing measures.

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The primary objective was to determine whether a behaviour change intervention delivered to hospital staff would (1) improve the proportion of Aboriginal and/or Torres Strait Islander (Aboriginal) babies being registered and (2) reduce hospital admissions and emergency presentations for babies <6 months old. The secondary objective was an observational analysis to determine factors that might influence the proportion of registered Aboriginal births in Western Australia. 

Research

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

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Both tumour suppressive and oncogenic functions have been reported for dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). Herein, we performed a detailed investigation to delineate the role of DYRK1A in glioblastoma. Our phosphoproteomic and mechanistic studies show that DYRK1A induces degradation of cyclin B by phosphorylating CDC23, which is necessary for the function of the anaphase-promoting complex, a ubiquitin ligase that degrades mitotic proteins.

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The expression pattern of FcεRI on DC and basophils differentiates asthmatic from non-asthmatic atopic children

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To identify Helicobacter pylori and related oncogenic and virulent proteins in patients with gingivitis, periodontitis, oral cancer and gastric cancer.

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We investigated howautonomous and controlled motives for saving money contribute longitudinally to selfregulatory coping, goal progress, and psychological need satisfaction/frustration. We also investigated whether mental contrasting with implementation intentions (MCII) facilitates saving through interactions with controlled goal motives.

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Parents must rapidly adapt goals from various aspects of their lives to accommodate the demands of the early stages of parenthood. According to the self-concordance model, having autonomous goal motives (based on enjoyment or personal goal value) should foster effective self-regulation (e.g., coping strategies), better goal management, and increase the likelihood of goal attainment, compared to controlled motives (goals driven by demands/pressures).

Research

Adaptive behaviour change is central to improving population health, yet poor adoption of health-enhancing behaviours contributes to noncommunicable diseases and so remains a global concern. Research on physical activity behaviour change has continued to expand and evolve since the turn of the millennium, guided by diverse theoretical approaches-from social cognitive theories, organismic dialectical approaches such as Self-Determination Theory, dual-process frameworks, and integrated practical models and taxonomies.

Research

These findings suggest an urgent need for multisectoral primary prevention of traumatic brain injury