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Research

Preventive medicine for person, place, and planet: Revisiting the concept of high-level wellness in the planetary health paradigm

Here, we discuss the relevance of planetary health in the era of personalized medicine, gross environmental concerns, and a crisis of non-communicable diseases

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Narrative Medicine Meets Planetary Health: Mindsets Matter in the Anthropocene

We argue that the principles and practice of narrative medicine can be applied on a larger scale, one with planetary health in mind

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Exposure to Ultraviolet Radiation in the Modulation of Human Diseases

This review focuses primarily on the beneficial effects for human health of exposure to ultraviolet radiation

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Children and adolescents with type 1 diabetes in Australasia: An online survey of model of care, workforce and outcomes

Survey of the model of care and workforce that manages children and adolescents with type 1 diabetes in Australasia along with glycaemic outcomes

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Higher non-processed red meat consumption is associated with a reduced risk of central nervous system demyelination

We found no statistically significant association between processed red meat density and risk of a first clinical diagnosis of central nervous system demyelination

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Designs on Narrative: A Design-Based Method to Elicit Young People’s Narratives About Electronic Image-Sharing Issues and Interventions

The narrative structure innate to the Design Thinking process offered a picture of electronic image-sharing problems and related solutions from young people’s perspectives

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Tasmania’s child and family centres building parenting capability: a mixed methods study

This mixed methods study investigated the impact of Tasmania’s Child and Family Centres on parents’ confidence and competence

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Small-molecule screen reveals synergy of cell cycle checkpoint kinase inhibitors with DNA-damaging chemotherapies in medulloblastoma

Medulloblastoma (MB) consists of four core molecular subgroups with distinct clinical features and prognoses. Treatment consists of surgery, followed by radiotherapy and cytotoxic chemotherapy. Despite this intensive approach, outcome remains dismal for patients with certain subtypes of MB, namely, MYC-amplified Group 3 and TP53-mutated SHH. Using high-throughput assays, six human MB cell lines were screened against a library of 3208 unique compounds. We identified 45 effective compounds from the screen and found that cell cycle checkpoint kinase (CHK1/2) inhibition synergistically enhanced the cytotoxic activity of clinically used chemotherapeutics cyclophosphamide, cisplatin, and gemcitabine.

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The economic and health burdens of diseases caused by group A Streptococcus in New Zealand

In preparation for the future arrival of a group A Streptococcus (GAS) vaccine, this study estimated the economic and health burdens of GAS diseases in New Zealand. The annual incidence of GAS diseases was based on extrapolation of the average number of primary healthcare episodes managed each year in general practices (2014-2016) and on the average number of hospitalizations occurring each year (2005-2014). Disease incidence was multiplied by the average cost of diagnosing and managing an episode of disease at each level of care to estimate the annual economic burden.

Research

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.