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Research
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic 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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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 protocolParents 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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Notification of acute rheumatic fever and rheumatic heart disease in hospitalised people in the Midwest region of Western Australia, 2012–2022: a retrospective cohort studyAcute 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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Association between Congenital Anomalies and Late-Onset Bacterial Infections in Neonates Admitted to Neonatal Intensive Care Units in Australia and New ZealandCompromised neonatal intensive care unit neonates are at risk of acquiring late-onset infections (late-onset sepsis [LOS]). Neonates born with congenital anomalies could have an additional LOS risk.
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Trimodal skin health programme for childhood impetigo control in remote Western Australia (SToP): a cluster randomised, stepped-wedge trialSkin infections affect physical health and, through stigma, social-emotional health. When untreated, they can cause life-threatening conditions. We aimed to assess the effect of a holistic, co-designed, region-wide skin control programme on the prevalence of impetigo.
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Screening Measures of Perinatal Mental Health and Wellbeing in Fathers: A Scoping ReviewAccurately 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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Exercise training to address lifelong consequences of preterm birth: a survey of perceived needsThe identification of a COPD etiotype associated with preterm birth (COPD-developmental) has expedited calls for intervention strategies that may improve health outcomes for survivors of preterm birth (<37 weeks' gestation). Pulmonary-rehabilitation style training interventions achieve physiological and symptom improvement in older people with COPD, but whether similar training interventions are suitable for young people is unclear. We sought to understand the perceived need and requirements of an exercise training intervention for children, adolescents and adults born preterm.
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Thoracic Society of Australia and New Zealand (TSANZ) Guidance for the Management of Electronic Cigarette Use (Vaping) in Adolescents and AdultsElectronic 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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TANGO2 binds crystallin alpha B and its loss causes desminopathyMutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.
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Immune Development in Early Life (IDEaL) longitudinal cohort study protocol: Identifying biomarkers of vaccine responsiveness, respiratory infection, and asthmaEarly-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.