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Research

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Research

Many people with tuberculosis (TB) rely solely on traditional healthcare services. Integrating traditional healthcare with modern healthcare services can increase access, quality, continuity, consumer satisfaction, and efficiency. However, successful integration of traditional healthcare with modern healthcare services requires stakeholder acceptance.

Research

The gut microbiome plays a significant role in regulating the host’s ability to store fat, which impacts the development of obesity. This observational cohort study recruited obese adult men and women scheduled to undergo sleeve gastrectomy and followed up with them 6 months post-surgery to analyse their microbial taxonomic profiles and associated metabolites in comparison to a healthy control group.

Research

Clinical management of breast cancer (BC) metastasis remains an unmet need as it accounts for 90% of BC-associated mortality. Although the luminal subtype, which represents >70% of BC cases, is generally associated with a favorable outcome, it is susceptible to metastatic relapse as late as 15 years after treatment discontinuation.

Research

Belaynew Christopher Peter Hannah Minda Huong Taye Blyth Richmond Moore Sarna Le MD, MPH, PhD MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM

Research

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Research

Australia does not have a national strategy for Aboriginal and Torres Strait Islander adolescent health and as a result, policy and programming actions are fragmented and may not be responsive to needs. Efforts to date have also rarely engaged Aboriginal and Torres Strait Islander people in co-designing solutions. The Roadmap Project aims to work in partnership with young people to define priority areas of health and well-being need and establish the corresponding developmentally appropriate, evidence-based actions.

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LGBTQA+ young people experience suicidal thoughts and behaviors at a much greater rate than their heterosexual and cisgender peers. This study explored firsthand accounts of the coping strategies employed by LGBTQA+ young people when experiencing suicidal thoughts and behaviors.

Research

As herpes simplex virus in infancy is not a mandatory notifiable condition in Australia, completeness of ascertainment by the Australian Paediatric Surveillance Unit (APSU) has been difficult to evaluate to date. We evaluated case capture in Queensland and Western Australia using statewide laboratory and clinical data and complementary surveillance data collected via the APSU.

Research

Bacille Calmette-Guérin (BCG) vaccine has immunomodulatory effects that may provide protection against unrelated infectious diseases. We aimed to determine whether BCG vaccination protects adults against COVID-19.