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Research

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

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". 

Research

Internet-based third-wave Cognitive Behavioral Therapy (CBT) for reducing stress in parents of children and adolescents with chronic conditions: Systematic review and meta-analysis protocol

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.

Research

Notification of acute rheumatic fever and rheumatic heart disease in hospitalised people in the Midwest region of Western Australia, 2012–2022: a retrospective cohort study

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. 

Research

Impact of vaccine mandates and removals on COVID-19 vaccine uptake in Australia and international comparators: a study protocol

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.

Research

Loneliness and Emotional and Externalizing Problems in Early Adolescence: Moderating and Mediating Effects of Coping Skills

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.

Research

IDH mutant high-grade gliomas

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.

Research

Screening Measures of Perinatal Mental Health and Wellbeing in Fathers: A Scoping Review

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. 

Research

Thoracic Society of Australia and New Zealand (TSANZ) Guidance for the Management of Electronic Cigarette Use (Vaping) in Adolescents and Adults

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. 

Research

Immune Development in Early Life (IDEaL) longitudinal cohort study protocol: Identifying biomarkers of vaccine responsiveness, respiratory infection, and asthma

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

The Lancet Child & Adolescent Health Commission on the future of neonatology

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