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Exhaled breath condensate (EBC) collection is a non-invasive, safe method for measurement of biomarkers in patients with lung disease. Other methods of obtaining samples from the lungs, such as bronchoalveolar lavage, are invasive and require anaesthesia/sedation in neonates and infants. EBC is particularly appealing for assessing biomarkers in preterm-born infants, a population at risk of ongoing lung disease.
Developmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions.
Clinical studies of neurodevelopmental outcomes after anesthetic exposure have evaluated a range of outcomes with mixed results.
The prevalence of stillbirth in many high income countries like Australia has remained unchanged for over 30 years. The 2018 Australian government Senate Select Committee on Stillbirth Research and Education highlighted the need for a public health campaign to encourage public conversations and increase awareness.
The COVID-19 pandemic has brought unprecedented levels of grief and psychological distress in community samples. We examined unique pandemic grief risk factors, dysfunctional grief, Post-traumatic Stress Disorder symptoms, general psychiatric distress, disrupted meaning, and functional impairment in a treatment-seeking sample of people bereaved from COVID-19 in the United Kingdom.
The prevalence of scar formation following Bacille Calmette-Guérin (BCG) vaccination varies globally. The beneficial off-target effects of BCG are proposed to be stronger amongst children who develop a BCG scar. Within an international randomised trial ('BCG vaccination to reduce the impact of coronavirus disease 2019 (COVID-19) in healthcare workers'; BRACE Trial), this nested prospective cohort study assessed the prevalence of and factors influencing scar formation, as well as participant perception of BCG scarring 12 months following vaccination.
The incidence of mental illness is greatest among young adults, and those enrolled in higher education may be particularly vulnerable compared to the general young adult population. Many higher education institutions employ student support staff tasked with implementing strategies to improve student wellbeing and mental illness.
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.
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.
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.