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Research

Assessment of early lung disease in young children with CF: A comparison between pressure-controlled and free-breathing chest computed tomography

Our data suggest that FRC PC-CTs are less sensitive than TLC PC-CTs and that FB-CTs have similar sensitivity to PC-CTs in detecting lung disease

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The Undiagnosed Diseases Network International: Five years and more

The Undiagnosed Diseases Network International was established with the major aims of providing diagnoses to patients

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Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.

Research

Multi-Omic Data Integration Allows Baseline Immune Signatures to Predict Hepatitis B Vaccine Response in a Small Cohort

Vaccination remains one of the most effective means of reducing the burden of infectious diseases globally. Improving our understanding of the molecular basis for effective vaccine response is of paramount importance if we are to ensure the success of future vaccine development efforts. We applied cutting edge multi-omics approaches to extensively characterize temporal molecular responses following vaccination with hepatitis B virus (HBV) vaccine. Data were integrated across cellular, epigenomic, transcriptomic, proteomic, and fecal microbiome profiles, and correlated to final HBV antibody titres.

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Temperament in individuals with Autism Spectrum Disorder: A systematic review

The study of temperament in Autism Spectrum Disorder (ASD) has the potential to provide insight regarding variability in the onset, nature, and course of both core and co-morbid symptoms. The aim of this systematic review was to integrate existing findings concerning temperament in the context of ASD. Searches of Medline, PsychInfo and Scopus databases identified 64 relevant studies. As a group, children and adolescents with ASD appear to be temperamentally different from both typically developing and other clinical non-ASD groups, characterized by higher negative affectivity, lower surgency, and lower effortful control at a higher-order level.

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Converting the maybes: Crucial for a successful COVID-19 vaccination strategy

Broad community acceptance of a COVID-19 vaccination will be critical for effectively halting the spread of the virus. In this study, we focus on factors that differentiate those who are undecided from those who are either willing or unwilling to accept a prospective COVID-19 vaccine. An online survey in May 2020 assessed Australian adults' willingness to receive a COVID-19 vaccine (yes, maybe, no). A multinomial logistical regression of responses (N = 1,313) was used to identify correlates of vaccine willingness between the three groups.

Research

The Role of the Avatar in Gaming for Trans and Gender Diverse Young People

A significant proportion of trans and gender diverse (TGD) young people report membership of the gaming community and resultant benefits to wellbeing. To date their experiences and needs regarding a key feature of games, the avatar, are largely unexplored, despite increasing interest in the therapeutic role of avatars in the general population. The aim of this study was to better understand the role of the avatar in gaming, its impact on TGD young people's mental health, and their unique needs regarding avatar design.

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Global maps of travel time to healthcare facilities

Access to healthcare is a requirement for human well-being that is constrained, in part, by the allocation of healthcare resources relative to the geographically dispersed human population. Quantifying access to care globally is challenging due to the absence of a comprehensive database of healthcare facilities. We harness major data collection efforts underway by OpenStreetMap, Google Maps and academic researchers to compile the most complete collection of facility locations to date.

Research

BAL Inflammatory Markers Can Predict Pulmonary Exacerbations in Children With Cystic Fibrosis

Pulmonary exacerbations in cystic fibrosis are characterized by airway inflammation and may cause irreversible lung damage. Early identification of such exacerbations may facilitate early initiation of treatment, thereby potentially reducing long-term morbidity. Research question: Is it possible to predict pulmonary exacerbations in children with cystic fibrosis, using inflammatory markers obtained from BAL fluid?

Research

Six Months of Hybrid Closed-Loop Versus Manual Insulin Delivery With Fingerprick Blood Glucose Monitoring in Adults With Type 1 Diabetes: A Randomized, Controlled Trial

To investigate glycemic and psychosocial outcomes with hybrid closed-loop (HCL) versus user-determined insulin dosing with multiple daily injections (MDI) or insulin pump (i.e., standard therapy for most adults with type 1 diabetes). Adults with type 1 diabetes using MDI or insulin pump without continuous glucose monitoring (CGM) were randomized to 26 weeks of HCL (Medtronic 670G) or continuation of current therapy.