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A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.
This phase III study evaluated safety, tolerability, and immunogenicity of V114 (15-valent pneumococcal conjugate vaccine) in healthy infants. V114 contains all 13 serotypes in PCV13 and additional serotypes 22F and 33F.
Buruli ulcer (BU) is a neglected tropical disease caused by infection of subcutaneous tissue with Mycobacterium ulcerans. BU is commonly reported across rural regions of Central and West Africa but has been increasing dramatically in temperate southeast Australia around the major metropolitan city of Melbourne, with most disease transmission occurring in the summer months.
Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.
Schools are increasingly recognized as important settings for mental health promotion, but it is unclear what actions schools should prioritize to promote student mental health and wellbeing. We undertook a policy review of global school-based mental health promotion policy documents from United Nations agencies to understand the frameworks they use and the actions they recommend for schools.
No studies have yet examined high-resolution shifts in the spatial patterns of human movement in Australia throughout 2020 and 2021, a period coincident with the repeated enactment and removal of varied governmental restrictions aimed at reducing community transmission of SARS-CoV-2. We compared overlapping timeseries of COVID-19 pandemic-related restrictions, epidemiological data on cases and vaccination rates, and high-resolution human movement data to characterize population-level responses to the pandemic in Australian cities.
As families increase their use of mobile touch screen devices (smartphones and tablet computers), there is potential for this use to influence parent-child interactions required to form a secure attachment during infancy, and thus future child developmental outcomes. Thirty families of infants (aged 9-15 months) were interviewed to explore how parents and infants use these devices, and how device use influenced parents' thoughts, feelings and behaviours towards their infant and other family interactions.
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
The current framework for testing and regulating vaccines was established before the realization that vaccines, in addition to their effect against the vaccine-specific disease, may also have "non-specific effects" affecting the risk of unrelated diseases. Accumulating evidence from epidemiological studies shows that vaccines in some situations can affect all-cause mortality and morbidity in ways that are not explained by the prevention of the vaccine-targeted disease.
Rheumatic heart disease (RHD) is responsible for a significant burden of cardiovascular morbidity and mortality, and remains the most common cause of acquired heart disease among children and young adults in low-income and middle-income countries. Additionally, the global COVID-19 pandemic has forced the emergency restructuring of many health systems, which has had a broad impact on health in general, including cardiovascular disease.