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The effectiveness of education and lived experience resources in reducing stigma towards young people at-risk of psychosis

This study aimed to evaluate and compare the effectiveness of two brief written anti-stigma resources.

TREK2School Study

Gina Trapp BHSc(Hons1A), RPHNutr, PhD Honorary Research Associate Gina.Trapp@thekids.org.au ARC DECRA Fellow & Head of Food and Nutrition Research Dr

Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Child protection involvement of children of mothers with intellectual disability

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Penicillin Reactions in Patients With Severe Rheumatic Heart Disease: A Presidential Advisory From the American Heart Association

Jonathan Rosemary Carapetis AM Wyber AM MBBS FRACP FAFPHM PhD FAHMS MBChB MPH FRACGP PhD Executive Director; Co-Head, Strep A Translation; Co-Founder

Secondary Antibiotic Prophylaxis for Latent Rheumatic Heart Disease

Rheumatic heart disease affects more than 40.5 million people worldwide and results in 306,000 deaths annually. Echocardiographic screening detects rheumatic heart disease at an early, latent stage. Whether secondary antibiotic prophylaxis is effective in preventing progression of latent rheumatic heart disease is unknown.

Caring for Pregnant Women with Rheumatic Heart Disease: A Qualitative Study of Health Service Provider Perspectives

Rheumatic heart disease (RHD) persists in low-middle-income countries and in high-income countries where there are health inequities. RHD in pregnancy (RHD-P) is associated with poorer maternal and perinatal outcomes. Our study examines models of care for women with RHD-P from the perspectives of health care providers.

Challenges in the Management of Childhood Intracranial Germ Cell Tumors in Middle-Income Countries: A 20-Year Retrospective Review From a Single Tertiary Center in Malaysia

A higher incidence of pediatric intracranial germ cell tumors (iGCTs) in Asian countries compared with Western countries has been reported. In Malaysia, the literature regarding pediatric iGCTs have been nonexistent. The aim of this study was to review the management, survival, and long-term outcomes of pediatric iGCTs at a single tertiary center in Malaysia.

Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.