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Research

Radiographic and visual response to the type II RAF inhibitor tovorafenib in children with relapsed/refractory optic pathway glioma in the FIREFLY-1 trial

Due to their anatomical locations, optic pathway gliomas (OPGs) can rarely be cured by resection. Given the importance of preserving visual function, we analyzed radiological and visual acuity (VA) outcomes for the type II RAF inhibitor tovorafenib in the OPG subgroup of the phase 2 FIREFLY-1 trial.

Research

Mental Health Problems Among Indonesian Adolescents: Findings of a Cross-Sectional Study Utilizing Validated Scales and Innovative Sampling Methods

This study aimed to estimate the prevalence of mental health problems and identify potential risk and protective exposures for adolescents in Indonesia. An innovative sampling approach was applied to simultaneously recruit school- and community-based adolescents aged 16-18 years old from Jakarta (urban megacity) and South Sulawesi (remote province).

Research

Early nasal microbiota and subsequent respiratory tract infections in infants with cystic fibrosis

Respiratory tract infections (RTIs) drive lung function decline in children with cystic fibrosis (CF). While the respiratory microbiota is clearly associated with RTI pathogenesis in infants without CF, data on infants with CF is scarce. We compared nasal microbiota development between infants with CF and controls and assessed associations between early-life nasal microbiota, RTIs, and antibiotic treatment in infants with CF. 

Research

Bile acids in the lower airways is associated with airway microbiota changes in chronic obstructive pulmonary disease: an observational study

Chronic obstructive pulmonary disease (COPD) is a complex disorder with a high degree of interindividual variability. Gastrointestinal dysfunction is common in patients with COPD and has been proposed to influence the clinical progression of the disease. Using the presence of bile acid(s) (BA) in bronchoalveolar lavage (BAL) fluid as a marker of gastric aspiration, we evaluated the relationships between BAs, clinical outcomes and bacterial lung colonisation.

Research

Biomarkers of vaccine safety and efficacy in vulnerable populations: Lessons from the fourth international precision vaccines conference

Vaccination has been a cornerstone of public health, substantially reducing the global burden of infectious diseases, notably evident during the COVID-19 pandemic caused by SARS-CoV-2.

Research

Protective factors, risk factors, and intervention strategies in the prevention and reduction of crime among adolescents and young adults aged 12–24 years: A scoping review protocol

Evidence indicates that criminal behaviour in youth is linked with a range of negative physical, mental, and social health consequences. Despite a global decrease over the last 30 years, youth crime remains prevalent. 

Research

Improving the detection of congenital syphilis: reviewing test utility and adherence to recommendations

Western Australia (WA) has experienced a resurgence of congenital syphilis. Appropriate microbiology testing of the neonate is recommended to confirm infection, including syphilis immunoglobulin M (IgM), rapid plasma reagin (RPR) paired with a maternal sample, and polymerase chain reaction (PCR) on placenta and nasal swabs.

Research

The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. 

Research

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Research

Ecological-level factors associated with tuberculosis incidence and mortality: A systematic review and meta-analysis

Globally, tuberculosis (TB) is the leading infectious cause of morbidity and mortality, with the risk of infection affected by both individual and ecological-level factors. While systematic reviews on individual-level factors exist, there are currently limited studies examining ecological-level factors associated with TB incidence and mortality. This study was conducted to identify ecological factors associated with TB incidence and mortality.