Reports and Findings (Published Research)

Successful treatment of a child with acute monoblastic leukaemia who relapsed with T-cell acute lymphoblastic leukaemia: A rare lineage switch

Rishi S. Kotecha MB ChB (Hons) MRCPCH FRACP PhD Co-Head, Leukaemia Translational Research rishi.kotecha@health.wa.gov.au Co-Head, Leukaemia Translational Research Areas of research expertise: Preclinical and clinical leukaemia research; Supportive

Piperaquine Pharmacokinetic and Pharmacodynamic Profiles in Healthy Volunteers of Papua New Guinea after Administration of Three-Monthly Doses of Dihydroartemisinin-Piperaquine

Mass drug administration (MDA) with monthly dihydroartemisinin-piperaquine (DHA-PQP) appears useful in malaria control and elimination strategies. Determining the relationship between consecutive piperaquine phosphate (PQP) exposure and its impact on QT interval prolongation is a key safety consideration for MDA campaigns.

Variants of Streptococcus pneumoniae Serotype 14 from Papua New Guinea with the Potential to Be Mistyped and Escape Vaccine-Induced Protection

Streptococcus pneumoniae (the pneumococcus) is a human pathogen of global importance, classified into serotypes based on the type of capsular polysaccharide produced. Serotyping of pneumococci is essential for disease surveillance and vaccine impact measurement.

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

Globally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.

Flexible societies excelled in saving lives in the first phase of the COVID-19 pandemic

Previous studies have shown that national cultural traits, such as collectivism–individualism and tightness–looseness, are associated with COVID-19 infection and mortality rates.

Refining nosology by modelling variation among facial phenotypes: The RASopathies

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.

Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

Immunogenicity, otitis media, hearing impairment, and nasopharyngeal carriage 6-months after 13-valent or ten-valent booster pneumococcal conjugate vaccines, stratified by mixed priming schedules: PREVIX_COMBO and PREVIX_BOOST randomised controlled trials

Australian First Nations children are at very high risk of early, recurrent, and persistent bacterial otitis media and respiratory tract infection. With the PREVIX randomised controlled trials, we aimed to evaluate the immunogenicity of novel pneumococcal conjugate vaccine (PCV) schedules.

Normative multiple-breath washout data in school-aged children corrected for sensor error

Graham Kathryn Rachel Alana Hall Ramsey Foong Harper BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc (Hons), PhD BSc (hons), PhD, MBiostat BSc (hons) Honorary Research Associate Co-Head, Foundations of Lung Disease Honorary Research Associate Program

Harmonized Phenotypes for Anxiety, Depression, and Attention-Deficit Hyperactivity Disorder (ADHD)

In multi-cohort consortia, the problem often arises that a phenotype is measured using different questionnaires. This study aimed to harmonize scores based on the Child Behaviour Check List (CBCL) and the Strength and Difficulties Questionnaire (SDQ) for anxiety/depression and ADHD.