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The transport and Golgi organization 2 (TANGO2) gene has been identified to cause a rare recessive genetic disorder known as TANGO2-deficiency disorder (TDD). TDD is a multi-systemic disorder that can affect different organs including the brain, heart, and muscles, presenting as recurrent metabolic crises, muscle weakness, and neurological symptoms including developmental delay and seizures.
Asthma remission has emerged as a potential therapeutic goal. However, definitions of remission have primarily focused on adult populations, with limited consensus on how remission should be defined in children.
The in-vivo plasma concentration of penicillin needed to prevent Streptococcus pyogenes pharyngitis, recurrent acute rheumatic fever, and progressive rheumatic heart disease is not known. We used a human challenge model to assess the minimum penicillin concentration required to prevent streptococcal pharyngitis.
Children in out-of-home care participate in less organised sport than children from other household structures, potentially reducing opportunities for improvements in social, developmental, and health outcomes. Despite this, little is known about barriers and facilitators of sport participation for children in care. We aimed to explore carers' perspectives on the influences on children in care's participation and experiences in organised sport.
Neonatal and puerperal sepsis are major manifestations of invasive group B streptococcal (Streptococcus agalactiae; iGBS) infections. International data indicate the importance of iGBS infections among non-pregnant adults.
Trans individuals face elevated health risks and socio-environmental challenges, influencing their engagement in health-protective behaviors (e.g. exercise and nutrition). Despite these challenges, there is a significant gap in understanding the specific eating and exercise experiences of Australian trans adults, including barriers to healthy behaviors and healthcare experiences. This study aims to address this gap by exploring these experiences, informing targeted interventions and healthcare practices to improve health outcomes.
Subcutaneous delivery of antibiotics is a practical alternative to IV administration. Meropenem is commonly used to treat infections caused by resistant Gram-negative organisms.
Siblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.
Lung squamous cell carcinoma (LUSC) is a significant health concern, characterized by a lack of specific therapies and limited treatment options for patients in advanced stages. This study aims to identify key molecules of prognostic importance in LUSC and provide an experimental foundation for their potential therapeutic applications.
Pulmonary atresia with intact ventricular septum is a rare congenital cardiac lesion with significant anatomical heterogeneity. Surgical planning of borderline cases remains challenging and is primarily based on echocardiography. The aim was to identify echocardiographic parameters that correlate with surgical outcome and to develop a discriminatory calculator.