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Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two familiesWe report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.
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Justice capital: A model for reconciling structural and agentic determinants of desistanceThe emerging literature on desistance (and recovery from addictions) has focused on key life-course transitions that can be characterised as the need for jobs (meaningful activities), friends (transitioning to pro-social) and houses (a home free from threat). The term ‘recovery capital’ is used to characterise personal, social and community resources an individual can draw upon to support their recovery, partly bridging agentic (personal) and structural (community) factors.
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The familial risk of infection-related hospitalization in children: A population-based sibling studyTo assess the risk of severe childhood infections within families, we conducted a sibling analysis in a population-based cohort study with genealogical linkage. We investigated the sibling risk of hospitalization with common infections, a marker of severity. We hypothesized that having siblings hospitalized for infection would increase the proband's risk of admission with infection.
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Interpregnancy intervals and child development at age 5: A population data linkage studyTo investigate the associations between interpregnancy intervals (IPIs) and developmental vulnerability in children's first year of full-time school (age 5). A retrospective cohort study using logistic regression. ORs were estimated for associations with IPIs with adjustment for child, parent and community sociodemographic variables.
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High risk of early sub-therapeutic penicillin concentrations after intramuscular benzathine penicillin G injections in Ethiopian children and adults with rheumatic heart diseaseIntramuscular benzathine penicillin G (BPG) injections are a cornerstone of secondary prophylaxis to prevent acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Uncertainties regarding inter-ethnic and preparation variability, and target exposure profiles of BPG injection are key knowledge gaps for RHD control.
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Clinical and Molecular Epidemiology of an Emerging Panton-Valentine Leukocidin-Positive ST5 Methicillin-Resistant Staphylococcus aureus Clone in Northern AustraliaRecently, we identified a Staphylococcus aureus sequence type 5 (ST5) clone in northern Australia with discrepant trimethoprim-sulfamethoxazole (SXT) susceptibility results. We aimed to identify isolates of this clone using Vitek 2 SXT resistance as a proxy and to compare its epidemiology with those of other circulating S. aureus strains. We collated Vitek 2 susceptibility data for S. aureus isolates collected through our laboratory and conducted a prospective, case-control study comparing clinical, microbiological, epidemiological, and genomic data for subsets of isolates reported as SXT resistant (cases) and SXT susceptible (controls) by Vitek 2.
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Temperament in individuals with Autism Spectrum Disorder: A systematic reviewThe 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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Determinants of Cardiovascular Risk in 7000 Youth With Type 1 Diabetes in the Australasian Diabetes Data NetworkCardiovascular disease occurs prematurely in type 1 diabetes. The additional risk of overweight is not well characterized. The primary aim was to measure the impact of body mass index (BMI) in youth with type 1 diabetes on cardiovascular risk factors. The secondary aim was to identify other determinants of cardiovascular risk.
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Risk factors for COVID-19 infection, disease severity and related deaths in Africa: A systematic reviewThe aim of this study was to provide a comprehensive evidence on risk factors for transmission, disease severity and COVID-19 related deaths in Africa. A systematic review has been conducted to synthesise existing evidence on risk factors affecting COVID-19 outcomes across Africa.
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Associations of maternal and paternal mental health problems with offspring anxiety at age 20 years: Findings from a population-based prospective cohort studyEpidemiological studies indicate that children of parents with mental health problems are at an increased risk of developing anxiety disorders. Few studies have investigated this relationship in young adults. Participants were from the Raine Study, which is a multi-generational birth cohort study in Australia. Maternal anxiety and depression in late childhood were assessed using the Depression, Anxiety, and Stress Scale (DASS-42), and paternal lifetime mental health problems were assessed using a self-reported questionnaire.