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Research

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Research

Treatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials.

Research

Beyond the use of policy and system-focused approaches, it has been established globally that patients can play a role in enhancing the health care landscape. However, efforts to meaningfully translate patient engagement strategies that promote participation by hospitalized patients in relevant infection prevention and antimicrobial stewardship activities have not yet been realized. This study mapped the key factors acting as barriers and facilitators of patient engagement using a theoretical framework to identify potential new approaches to promote engagement.

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Diagnosing urinary tract infections (UTIs) in children in the emergency department (ED) is challenging due to the variable clinical presentations and difficulties in obtaining a urine sample free from contamination.

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Population-level ecological studies show type 1 diabetes incidence is inversely correlated with ambient ultraviolet radiation (UVR) levels. We conducted a nested case–control study using administrative datasets to test this association at the individual level.

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Invasive aspergillosis (IA) in haematology/oncology patients presents as primary infection or breakthrough infection, which can become refractory to antifungal treatment and has a high associated mortality. Other emerging patient risk groups include patients in the intensive care setting with severe respiratory viral infections, including COVID-19.

Research

This article introduces the fourth update of the Australian and New Zealand consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting. These guidelines are comprised of nine articles as presented in this special issue of the Internal Medicine Journal. This introductory chapter outlines the rationale for the current update and the steps taken to ensure implementability in local settings.

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Given the beneficial effect of infant rotavirus vaccination efforts should be taken to optimize rotavirus vaccine coverage in those at highest risk

Research

The aim of this study was to describe the characteristics of patients with multidrug-resistant tuberculosis and to investigate risk factors

Research

The relationship between physical activity and child health and development is well-documented, yet the extant literature provides limited causal insight into the amount of physical activity considered optimal for improving any given health or developmental outcome.