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Research

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Research

Surveillance for severe influenza and COVID-19 in patients admitted to sentinel Australian hospitals in 2020: the Influenza Complications Alert Network (FluCAN)

Influenza is a common cause of acute respiratory infection, and is a major cause of morbidity and mortality. Coronavirus disease 2019 (COVID-19) is an acute respiratory infection that emerged as a pandemic worldwide before the start of the 2020 Australian influenza season.

Research

Conventional Therapies Deplete Brain-Infiltrating Adaptive Immune Cells in a Mouse Model of Group 3 Medulloblastoma Implicating Myeloid Cells as Favorable Immunotherapy Targets

Medulloblastoma is the most common childhood brain cancer. Mainstay treatments of radiation and chemotherapy have not changed in decades and new treatment approaches are crucial for the improvement of clinical outcomes. To date, immunotherapies for medulloblastoma have been unsuccessful, and studies investigating the immune microenvironment of the disease and the impact of current therapies are limited.

Research

It takes a village: Influencing policy and practice to prevent alcohol use in pregnancy and promote better outcomes for individuals living with Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorder is a neurodevelopmental disorder caused by exposure to alcohol in utero. It has pervasive, lifelong impacts and is recognised as a major public health concern in many countries where alcohol is used. The FASD Research Australia Centre of Research Excellence was funded by the National Health and Medical Research Council to generate and translate evidence to address prevention, diagnosis, and management of FASD in Australia.

Research

Composition of early life leukocyte populations in preterm infants with and without late-onset sepsis

Composition of leukocyte populations in the first month of life remains incompletely characterised, particularly in preterm infants who go on to develop late-onset sepsis (LOS). The aim of the study was to characterise and compare leukocyte populations in preterm infants with and without LOS during the first month of life.

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Two cases of Leclercia adecarboxylata septic arthritis in immunocompetent paediatric patients

Leclercia adecarboxylata is a rare cause of septic arthritis in children, and has intrinsic resistance to common antibiotics. We describe two cases of L. adecarboxylata septic arthritis in children that required re-presentation to hospital with prolonged treatment, and highlight the importance of considering L. adecarboxylata as a potential cause of infection among children with penetrating injuries and associated environmental exposure.

Research

Novel BRD4-NUT fusion isoforms increase the pathogenic complexity in NUT midline carcinoma

This study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is...

Research

The current state of play of rodent models to study the role of vitamin D in UV-induced immunomodulation

Ultraviolet radiation (UVR) from sunlight is immunomodulatory and the main source of vitamin D for humans.

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Dietary patterns are associated with cognition among older people with mild cognitive impairment

This study examined the cross-sectional association between dietary patterns & cognition in a sample of 249 people, 65-90 years, with mild cognitive impairment

Research

Jurisdictional, socioeconomic and gender inequalities in child health and development:

Early child development may have important consequences for inequalities in health and well-being. This paper explores population level patterns of child...