The "Super-Fontan" Phenotype: Characterizing Factors Associated With High Physical Performance.

People with a Fontan circulation usually have moderately impaired exercise performance, although a subset have high physical performance ("Super-Fontan"), which may represent a low-risk phenotype. People with a "Super-Fontan" phenotype were defined as achieving normal exercise performance [≥80% predicted peak oxygen uptake (VO) and work rate] during cardiopulmonary exercise testing (CPET) and were identified from the Australian and New Zealand Fontan Registry. A Fontan control group that included people with impaired exercise performance (<80% predicted VO or work rate) was also identified based on a 1:3 allocation ratio.

Epidemiology of mumps outbreaks and the impact of an additional dose of MMR vaccine for outbreak control in regional Queensland, Australia, 2017-2018.

Background: In recent years, there have been ongoing outbreaks of mumps reported in Northern and North-Western Queensland, Western Australia and the Northern Territory, Australia. We aimed to define the epidemiology of mumps outbreaks in Central Queensland, Australia between October 2017 and October 2018 and evaluate the effectiveness of an additional dose of measles, mumps, rubella (MMR) vaccine.

Methods: A retrospective case control study was conducted, including outbreak investigations with laboratory-confirmed cases of mumps and subsequent comparison with matched controls.

Interventions Targeting Bottle and Formula Feeding in the Prevention and Treatment of Early Childhood Caries, Overweight and Obesity: An Integrative Review.

Overweight, obesity and early childhood caries (ECC) are preventable conditions affecting infants and young children, with increased prevalence in those formula-fed. Previous research has focused on distinct outcomes for oral health and healthy weight gain. However, the aetiology may be linked through overlapping obesogenic and cariogenic feeding behaviours, such as increased sugar exposure through bottle propping and overfeeding.

Out of the Closet, Not Yet Out of the House: Gay Men's Experiences of Homonegativity and Internalized Homonegativity.

This paper explores how Australian gay men experience gender and sexuality in relation to heteronormative gender norms, specifically masculinity. A sample of 32 gay men 22-72 years of age participated in an online interview, using a videoconferencing software, on masculinity and homosexuality. Thematic analyses revealed that gay men experience gender and sexuality-related strain across all levels of their socioecological environment through social regulation, homophobic discrimination/harassment, and anti-effeminacy prejudice.

Ethnicity matters in perceived impacts and information sources of COVID-19 among mothers with young children in Australia: a cross-sectional study.

Objectives: This study aimed to investigate perceived impacts, ways of communication with professionals and information sources related to COVID-19, and explore whether these impacts or information sources were associated with ethnicity that is, language spoken at home.

Design: A cross-sectional study.

Setting: Sydney, Australia during the period from March to October 2020.

Prevalence and risk factors of food insecurity among Libyan migrant families in Australia.

Background: The burden of food insecurity remains a public health challenge even in high income countries, such as Australia, and especially among culturally and linguistically diverse (CALD) communities. While research has been undertaken among several migrant communities in Australia, there is a knowledge gap about food security within some ethnic minorities such as migrants from the Middle East and North Africa (MENA). This study aims to determine the prevalence and correlates of food insecurity among Libyan migrant families in Australia.

Assessing the impact of polio supplementary immunisation activities on routine immunisation and health systems: a systematic review.

Introduction: The Global Polio Eradication Initiative uses polio supplementary immunisation activities (SIAs) as a strategy to increase vaccine coverage and cease poliovirus transmission. Impact of polio SIAs on immunisation systems is frequently debated. We reviewed the impact of polio SIAs on routine immunisation and health systems during the modern era of polio eradication.

Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: a national cohort study.

Objective: To present Australia-wide data on paediatric COVID-19 and multisystem inflammatory syndromes to inform health service provision and vaccination prioritisation.

Design: Prospective, multicentre cohort study.

Setting: Eight tertiary paediatric hospitals across six Australian states and territories in an established research surveillance network-Paediatric Active Enhanced Disease (PAEDS).

An evaluation of homesickness in children: A systematic review and meta-analysis.

Objective: To provide a systematic review and meta-analysis of the quantitative literature on homesickness in children, including how it is assessed and relationship to other negative states.

Study Selection And Synthesis: A literature search was conducted using Medline, PsychINFO and Scopus databases. Studies were included if they assessed homesickness in children under eighteen years of age and were published in peer reviewed journals in the English language between 1990 and December 2020.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Background: Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and cause two distinct phenotypes: isolated sideroblastic anemia and a neurological phenotype with variant non-ketotic hyperglycinemia. In this study, we analysed the evolution of clinical and MRI findings and long-term outcome of patients with GLRX5 mutations.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.

Background: The type 1 interferonopathy, Aicardi-Goutières syndrome 6 (AGS6), is classically caused by biallelic ADAR mutations whereas dominant ADAR mutations are associated with dyschromatosis symmetrica hereditaria (DSH). The unique dominant ADAR c.3019G>A variant is associated with neurological manifestations which mimic spastic paraplegia and cerebral palsy (CP).

A Systematic Review of Cross-Cultural Adaptation and Psychometric Properties of Oral Health Literacy Tools.

The aims of this systematic review were to critically appraise the quality of the cross-cultural adaptation and the psychometric properties of the translated versions of oral health literacy assessment tools. CINAHL (EBSCO), Medline (EBSCO), EMBASE (Ovid), and ProQuest Dissertation and Thesis were searched systematically. Studies focusing on cross-cultural adaptation and psychometric properties of oral health literacy tools were included.

Burden of Malnutrition among Children and Adolescents with Cerebral Palsy in Arabic-Speaking Countries: A Systematic Review and Meta-Analysis.

Background: We aimed to estimate the burden and underlying risk factors of malnutrition among children and adolescents with cerebral palsy in Arabic-speaking countries.

Methods: OVID Medline, OVID Embase, CINAHL via EBSCO, Cochrane Library, and SCOPUS databases were searched up to 3 July 2021. Publications were reviewed to identify relevant papers following pre-defined inclusion/exclusion criteria.

Emerging evidence of Toll-like receptors as a putative pathway linking maternal inflammation and neurodevelopmental disorders in human offspring: A systematic review.

Inflammation is increasingly recognised to play a major role in gene-environment interactions in neurodevelopmental disorders (NDDs). The effects of aberrant immune responses to environmental stimuli in the mother and in the child can affect neuroimmune signalling that is central to brain development. Toll-like receptors (TLR) are the best known innate immune pattern and danger recognition sensors to various environmental threats.

"To Protect Myself, My Friends, Family, Workmates and Patients …and to Play My Part": COVID-19 Vaccination Perceptions among Health and Aged Care Workers in New South Wales, Australia.

The 2019 coronavirus disease (COVID-19) pandemic has globally caused widespread disruption, morbidity and mortality. The uptake of COVID-19 vaccination is critical for minimising further impacts of the pandemic. Health and aged care workers (HACWs) play a central role in public confidence in vaccines and are one of the priority groups for COVID-19 vaccination in Australia.

Domestic Saudi Arabian Travellers' Understanding about COVID-19 and Its Vaccination.

Background: There is a lack of data on Saudi domestic air travellers' understanding regarding COVID-19 and their attitude towards the COVID-19 vaccination.

Objectives: This study aimed to assess Saudi domestic air travellers' understanding regarding COVID-19 and attitude towards mandating the COVID-19 vaccination for travellers.

Methods: A survey using a self-administered, structured, and closed-ended questionnaire was conducted among domestic air travellers in Saudi Arabia.

The accuracy of hospital discharge data in recording major congenital anomalies in Australia.

Background: There has been increasing use of hospital discharge data to identify congenital anomalies, with limited information about the accuracy of these data.

Objectives: To evaluate the accuracy of hospital discharge data in ascertaining major congenital anomalies in infants.

Methods: All liveborn infants with major congenital anomalies born between 2004 and 2009 in New South Wales, Australia were included.

Serum fibroblast growth factor 21 and growth differentiation factor 15: Two sensitive biomarkers in the diagnosis of mitochondrial disorders.

Mitochondrial disorders are often difficult to diagnose because of diverse clinical phenotypes. FGF-21 and GDF-15 are metabolic hormones and promising biomarkers for the diagnosis of these disorders. This study has systematically evaluated serum FGF-21 and GDF-15 levels by ELISA in a well-defined cohort of patients with definite mitochondrial disorders (n = 30), neuromuscular disease controls (n = 36) and healthy controls (n = 36) and aimed to ascertain their utility in the diagnosis of mitochondrial disorders.

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with variable age of onset.

Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome.

Janus kinase (JAK) 1 inhibition represents a precision medicine approach in the treatment of Aicardi-Goutières syndrome (AGS), through targeting of type I interferon-mediated cell signalling. Blood interferon mRNAseq has been proposed as a biomarker of disease with utility in therapeutic monitoring. Objective cerebrospinal fluid (CSF) biomarkers tracking treatment efficacy are currently lacking.

Maternal immune activation and neuroinflammation in human neurodevelopmental disorders.

Maternal health during pregnancy plays a major role in shaping health and disease risks in the offspring. The maternal immune activation hypothesis proposes that inflammatory perturbations in utero can affect fetal neurodevelopment, and evidence from human epidemiological studies supports an association between maternal inflammation during pregnancy and offspring neurodevelopmental disorders (NDDs). Diverse maternal inflammatory factors, including obesity, asthma, autoimmune disease, infection and psychosocial stress, are associated with an increased risk of NDDs in the offspring.

Blended and e-learning in pediatric education: harnessing lessons learned from the COVID-19 pandemic.

Face-to-face education as the traditional basis for medical education was disrupted by the COVID-19 pandemic as learners and educators were moved online with little time for preparation. Fortunately, as online learning has grown, together with medical education shifting to problem-based and team-centered learning over the last three decades, existing resources have been adapted and improved upon to meet the challenges. Effective blended learning has resulted in innovative synchronous and asynchronous learning platforms.