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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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In their own words: advice from parents of children with cancerApproximately 770 children are diagnosed with cancer in Australia every year. Research has explored their experiences and developed recommendations for improving support provided to families. These have included the provision of psychology services, improved communication between healthcare professionals and parents, and increased information for families.
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Environmental Determinants of Islet Autoimmunity (ENDIA) longitudinal prospective pregnancy to childhood cohort study of Australian children at risk of type 1 diabetes: parental demographics and birth informationThe Environmental Determinants of Islet Autoimmunity Study is an ongoing Australian prospective cohort study investigating how modifiable prenatal and early-life exposures drive the development of islet autoimmunity and type 1 diabetes in children. In this profile, we describe the cohort's parental demographics, maternal and neonatal outcomes and human leukocyte antigen genotypes.
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Rebooting the anal sphincter: A retrospective cohort of children with intractable constipation receiving intrasphincteric botox injectionsChronic childhood constipation is a common problem that severely impacts quality of life. Recently, the efficacy of intrasphincteric botulinum toxin (botox) injection in breaking the cycle of constipation has been demonstrated. The current study aims to investigate response rate to treatment, symptom and examination finding associations, and identify associations between patient characteristics and outcome.
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Airway management in neonates and infants: Recommendations according to the ESAIC/BJA guidelinesSecuring an airway enables the oxygenation and ventilation of the lungs and is a potentially life-saving medical procedure. Adverse and critical events are common during airway management, particularly in neonates and infants. The multifactorial reasons for this include patient-dependent, user-dependent and also external factors.
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Widespread haemorrhages in infants post-shunting (WHIPS): clinical features, risk factors and neuroimaging characteristics of a rare and under-recognised phenomenonInfants undergoing CSF shunting procedures face a rare complication which we propose to rename "Widespread Haemorrhages in Infants Post-Shunting" (WHIPS) to better capture this unique phenomenon specific to infants undergoing CSF diversion. Our objective is to analyse the risk factors for WHIPS development and provide a detailed neuroradiological description of these haemorrhages.
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Are we missing opportunities to detect acute rheumatic fever and rheumatic heart disease in hospital care? A multijurisdictional cohort studyThis study aimed to investigate potential missed diagnoses of acute rheumatic fever and rheumatic heart disease during hospital-based care among persons subsequently identified with these conditions.
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Correction: Neonatal sepsis definitions from randomised clinical trialsTobias Strunk MD, PhD, FRACP Head, Neonatal Health tobias.strunk@thekids.org.au Head, Neonatal Health Clinical Professor Tobias Strunk is a