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Research

Clinical Implications of Minimal Residual Disease Detection in Infants With KMT2A-Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 Protocol

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide).

Research

A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown

Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary.

Research

Mouse Lung Structure and Function after Long-Term Exposure to an Atmospheric Carbon Dioxide Level Predicted by Climate Change Modeling

Climate change models predict that atmospheric carbon dioxide [CO2] levels will be between 700 and 900 ppm within the next 80yrs. In this study we aimed to assess the respiratory structure and function effects of long-term exposure to 890ppm CO2 from preconception to adulthood using a mouse model.

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Overcoming Challenges to Make Bacteriophage Therapy Standard Clinical Treatment Practice for Cystic Fibrosis

Individuals with cystic fibrosis (CF) are given antimicrobials as prophylaxis against bacterial lung infection, which contributes to the growing emergence of multidrug resistant (MDR) pathogens isolated. Pathogens such as Pseudomonas aeruginosa that are commonly isolated from individuals with CF are armed with an arsenal of protective and virulence mechanisms, complicating eradication and treatment strategies.

Research

Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1L

The aim is to identify novel associations between fT3, fT4, and TSH and differentially methylated positions (DMPs) in the genome in subjects from 2 Australian cohorts. We performed an epigenome-wide association study (EWAS) of thyroid function parameters and DNAm using participants from Brisbane Systems Genetics Study and the Raine Study.

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Two decades of increasing incidence of childhood-onset type 2 diabetes in Western Australia (2000–2019)

This retrospective population‐based study aimed to determine the incidence of type 2 diabetes from 2012 to 2019 in Western Australian youth aged under 16 years, and to examine temporal trends between 2000 and 2019, using data from the Western Australian Children’s Diabetes Database (WACDD). The data extracted for eligible patients diagnosed with type 2 diabetes, according to standard criteria, included diagnosis year, age, sex and self‐reported Aboriginal or Torres Strait Islander status.

Research

Epidemiology of COVID-19 infection in young children under five years: A systematic review and meta-analysis

Emerging evidence suggests young children are at greater risk of COVID-19 infection than initially predicted. However, a comprehensive understanding of epidemiology of COVID-19 infection in young children under five years, the most at-risk age-group for respiratory infections, remain unclear. We conducted a systematic review and meta-analysis of epidemiological and clinical characteristics of COVID-19 infection in children under five years.

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Immunoinflammatory responses to febrile lower respiratory infections in infants display uniquely complex/intense transcriptomic profiles

the association between infant LRTI and risk for persistent wheeze/asthma in this cohort is generally stronger for fLRTIs than for other infection categories

Research

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

Research

Trans and gender diverse young people's attitudes towards game-based digital mental health interventions: A qualitative investigation

This paper reports on trans and gender diverse young people's attitudes towards digital games and game-based digital mental health interventions