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Research

Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.

Research

National brain tumour registry: a new era of research collaboration with China

Cancer continues to be a leading cause of death globally. However, there remains a significant disparity in the reported incidence of cancer in developed countries, estimated to be 295.3 cases per 100,000 people, compared with only 115.7 in developing countries. Some of the reasons for this variation include lack of robust data collection with limited reporting systems, and insufficient data availability in the registries of these developing nations.

Research

Life in a time of COVID: retrospective examination of the association between physical activity and mental well-being in western Australians during and after lockdown

The aim of this study was to examine physical activity and sedentary behaviours during Western Australia's COVID-19 lockdown and their association with mental well-being.

Research

The AuTOMATIC trial: a study protocol for a multi-arm Bayesian adaptive randomised controlled trial of text messaging to improve childhood immunisation coverage

While most Australian children are vaccinated, delays in vaccination can put them at risk from preventable infections. Widespread mobile phone ownership in Australia could allow automated short message service (SMS) reminders to be used as a low-cost strategy to effectively 'nudge' parents towards vaccinating their children on time.

Research

The Bone Marrow Microenvironment in B-Cell Development and Malignancy

B lymphopoiesis is characterized by progressive loss of multipotent potential in hematopoi-etic stem cells, followed by commitment to differentiate into B cells, which mediate the humoral response of the adaptive immune system.

Research

Postinfectious Acute Cerebellar Syndromes in Children: A Nationally Ascertained Case Series From Australia 2013–2018

Postinfectious acute cerebellar syndromes show a wide spectrum of acute severity and can occur with acute febrile illness or vaccine receipt. Varicella has historically been the most common cause, associated with up to 25% of cases in large cohorts. This study aimed to describe the spectrum of syndromes in a setting with high varicella vaccine coverage.

Research

A mobile health intervention to encourage physical activity in children: a randomised controlled trial

Despite immense benefits of physical activity on health and developmental outcomes, few children achieve recommended daily levels of physical activity. Given more than half of families with children own a dog, we investigated the effect of a mobile health (mHealth) intervention to encourage dog-facilitated physical activity through increased family dog walking and children's active play with their dog.

Research

Planetary Health: We Need to Talk about Narcissism

Concepts of planetary health attempt to collectively address the biological, psychological, social, and cultural factors contributing to “Anthropocene Syndrome”, which encompasses the many wicked interrelated challenges of our time. It is increasingly evident that the wide array of causative factors is underpinned by attitudes, values, and worldviews.

Research

Placental Transcription Profiling in 6–23 Weeks’ Gestation Reveals Differential Transcript Usage in Early Development

The human placenta is a rapidly developing transient organ that is key to pregnancy success. Early development of the conceptus occurs in a low oxygen environment before oxygenated maternal blood begins to flow into the placenta at ~10–12 weeks’ gestation. This process is likely to substantially affect overall placental gene expression. Transcript variability underlying gene expression has yet to be profiled.

Research

Gaussian random fields: with and without covariances

We begin with isotropic Gaussian random fields, and show how the Bochner-Godement theorem gives a natural way to describe their covariance structure. We continue with a study of Matérn processes on Euclidean space, spheres, manifolds and graphs, using Bessel potentials and stochastic partial differential equations (SPDEs).