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Research

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

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Parents of children and adolescents with chronic conditions have an increased risk of stress-related mental health problems, and reduced quality of life. Third wave Cognitive Behavioral Therapy interventions have been shown to reduce stress in this parent population. Studies demonstrate that this efficacy endures when these therapies are delivered online.

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Acute rheumatic fever and rheumatic heart disease are caused by untreated group A streptococcus infections. Their prevalence is much higher among First Nations people than other Australians. 

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Vaccination against SARS-CoV-2 was a crucial public health measure during the COVID-19 pandemic. Among the multiple strategies developed to increase vaccine uptake, governments often employed vaccine mandates. However, little evidence exists globally about the impact of these mandates and their subsequent removal on vaccine uptake, including in Australia, France, Italy and the USA.

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Loneliness is an unavoidable facet of human existence. When chronic and intense, adolescent loneliness is associated with maladjustment over time. A prospective multiple-cohort study examined the links between child-reported loneliness and coping skills and parent-rated child mental health in early adolescence, with a total of 266 students from 75 primary and 152 secondary schools.

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Gliomas are the most common type of malignant primary central nervous system (CNS) tumors, resulting in significant morbidity and mortality in children and adolescent and young adult (AYA) patients. The discovery of mutations in isocitrate dehydrogenase (IDH) genes has dramatically changed the classification and understanding of gliomas.  IDH mutant gliomas have distinct clinical, pathological, and molecular features including a favorable prognosis and response to therapy compared to their wildtype counterparts.

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Accurately screening fathers for perinatal mental health problems requires well-validated screening instruments that assess the expression of paternal perinatal mental distress. This study aimed to identify and describe the psychometric properties of perinatal mental health screening instruments administered to paternal cohorts within the past two decades. 

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Electronic cigarette use, especially among younger members of society, has grown to concerning levels in many countries, including Australia and New Zealand. Uptake in the general population, driven by technological and pharmacological innovations, and accelerated by aggressive tobacco/vaping industry marketing, has outpaced medical research. 

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Early-life immune development is a critical factor in predicting the risk of childhood respiratory infections, asthma, and poor vaccine responses. Identifying immune endotypes that predispose children to these conditions could lead to the development of predictive biomarkers and early interventions, potentially improving long-term health outcomes. 

Research

Jane Pillow BMedSci (Dist) MBBS, PhD (Dist) FRACP Head, Developmental Chronobiology jane.pillow@thekids.org.au Head, Developmental Chronobiology