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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.
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Association between early respiratory viral infections and structural lung disease in infants with cystic fibrosisInfants with cystic fibrosis (CF) develop structural lung disease early in life, and viral infections are associated with progressive lung disease. We hypothesized that the presence of respiratory viruses would be associated with structural lung disease on computed tomography (CT) of the chest in infants with CF.
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Urinary albumin/creatinine ratio tertiles predict risk of diabetic retinopathy progression: a natural history study from the Adolescent Cardio-Renal Intervention Trial (AdDIT) observational cohortWe hypothesised that adolescents with type 1 diabetes with a urinary albumin/creatinine ratio (ACR) in the upper tertile of the normal range (high ACR) are at greater risk of three-step diabetic retinopathy progression (3DR) independent of glycaemic control.
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Airway and parenchymal transcriptomics in a novel model of asthma and COPD overlapAsthma and chronic obstructive pulmonary disease (COPD) are common chronic respiratory diseases, and some patients have overlapping disease features, termed asthma-COPD overlap. Patients characterized with ACO have increased disease severity; however, the mechanisms driving this have not been widely studied.
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Development and implementation of a national online application system for cross-jurisdictional linked dataThe Population Health Research Network (PHRN) is an Australian national data linkage infrastructure that links a wide range of health and human services data in privacy-preserving ways. The data linkage infrastructure enables researchers to apply for access to routinely collected, linked, administrative data from the six states and two territories which make up the Commonwealth of Australia, as well as data collected by the Australian Government.
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The Host-Pathogen Interactions and Epicellular Lifestyle of Neisseria meningitidisNeisseria meningitidis is a gram-negative diplococcus and a transient commensal of the human nasopharynx. It shares and competes for this niche with a number of other Neisseria species including N. lactamica, N. cinerea and N. mucosa. Unlike these other members of the genus, N. meningitidis may become invasive, crossing the epithelium of the nasopharynx and entering the bloodstream, where it rapidly proliferates causing a syndrome known as Invasive Meningococcal Disease.
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Examining the entire delayed respiratory syncytial virus season in Western AustraliaAn interseasonal resurgence of respiratory syncytial virus (RSV) was observed in Western Australia at the end of 2020. Our previous report describing this resurgence compared the 2019 and 2020 calendar years, capturing only part of the 2020/21 season.
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The Interseasonal Resurgence of Respiratory Syncytial Virus in Australian Children Following the Reduction of Coronavirus Disease 2019-Related PublicFollowing the end of winter, there has been a persistent absence of severe acute respiratory syndrome coronavirus 2 community transmission and no increase in influenza detections. Limited physical distancing measures have remained in place, with largely no restrictions on gathering sizes and no mandate for wearing masks.
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Friendly schools’ bullying prevention research: Implications for school counsellorsBullying varies in frequency, intensity, duration and hence severity, and contributes uniquely and directly to mental health problems, with severe and long-lasting consequences. Almost a half of school-age students report being bullied in the past year.
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Risk factors and disease severity in Australian infants aged under 6 months hospitalised with influenza 2011–2019Infants aged <6 months are vulnerable to severe influenza disease and no vaccine is approved for use in this age group. We aimed to describe the epidemiology, risk factors associated with severe outcomes and management of influenza in Australian infants aged <6 months.