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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Propofol, Anesthesia, and Neurocognitive Outcomes in Patients with Pediatric Leukemia: Are We Missing the Forest for the Trees?

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Systemic lupus erythematosus in Aboriginal and Torres Strait Islander peoples in Australia: addressing disparities and barriers to optimising patient care

The first inhabitants of Australia and the traditional owners of Australian lands are the Aboriginal and Torres Strait Islander peoples. Aboriginal and Torres Strait Islander peoples are two to four times more likely to have systemic lupus erythematosus (SLE) than the general Australian population.

4CMenB Breadth of Immune Response, Immunogenicity, and Safety: Results from a Phase 3 Randomized, Controlled, Observer Blind Study in Adolescents and Young Adults

Meningococcal serogroup B (MenB) strains are highly diverse. Breadth of immune response for the MenB vaccine, 4CMenB, administered at 0-2, 0-6, or 0-2-6 months, was demonstrated by endogenous complement-human serum bactericidal antibody (enc-hSBA) assay against an epidemiologically relevant panel of 110 MenB strains.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.

A Lifeline to Fill the Silence of Homelessness: Person-Centered Analysis of Digital Coping and Links to Mental and Physical Health

Individuals experiencing homelessness are among the most vulnerable population for mental and physical health disparities. Despite navigating numerous stressors on a day-to-day basis, they are vastly underrepresented within coping research. Using a person-centered approach, this study addresses ways in which technology is leveraged to manage ongoing stressors associated with the experience of homelessness.

The role of WhatsApp™ in pediatric difficult airway management: A study from the PeDI Collaborative

Management of the pediatric difficult airway can present unique clinical challenges. The Pediatric Difficult Intubation Collaborative (PeDI-C) is an international collaborative group engaging in quality improvement and research in children with difficult airways. The PeDI-C established a WhatsApp™ group to facilitate real-time discussions around the management of the difficult airway in pediatric patients.

Attitudes, perceptions, and experiences of Western Australians towards vaccine safety surveillance systems following COVID-19 vaccines: A qualitative descriptive study

Concerns regarding adverse events following immunisation are a barrier to vaccine uptake. Health professionals use vaccine safety surveillance systems (VSSSs) to monitor vaccines and inform the public of safety data. With little known about public attitudes, perceptions, and experiences with VSSS, we examined them in the context of COVID-19 vaccinations in Western Australia.

Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapy

Onco-fetal reprogramming of the tumor ecosystem induces fetal developmental signatures in the tumor microenvironment, leading to immunosuppressive features. Here, we employed single-cell RNA sequencing, spatial transcriptomics and bulk RNA sequencing to delineate specific cell subsets involved in hepatocellular carcinoma  relapse and response to immunotherapy. 

Malaria risk stratification in Lao PDR guides program planning in an elimination setting

Malaria in Lao People's Democratic Republic (Lao PDR) has declined rapidly over the last two decades, from 279,903 to 3926 (99%) cases between 2001 and 2021. Elimination of human malaria is an achievable goal and limited resources need to be targeted at remaining hotspots of transmission.