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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.
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.
The COVID-19 pandemic has seen evidence and advice evolve quickly. Since the start of the pandemic there has been confusion and concern about breastfeeding and COVID-19, and advice for this group has at times been contradictory. The volume of information on social media has exacerbated this. This study aimed to understand breastfeeding-related COVID-19 information sharing on social media during the global and Australian vaccine roll-out.
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.
Seasonal influenza vaccine is effective against influenza hospitalisations, but little is known about non-specific effects of the vaccine on other respiratory pathogens with similar seasonal patterns. We aimed to assess the causal impact of seasonal influenza vaccine on laboratory-confirmed hospitalisations for respiratory syncytial virus (RSV) in children using an instrumental variable strategy.
Vaccination in pregnancy is the best strategy to reduce complications from influenza or pertussis infection in infants who are too young to be protected directly from vaccination. Pregnant women are also at risk of influenza complications preventable through antenatal vaccination. Both vaccines are funded under the National Immunisation Program for pregnant women in Australia, but coverage is not routinely reported nationally.
Adenotonsillectomy is one of the most common surgical interventions in children, and while generally safe, it is associated with a risk of significant adverse events. In this issue, Kim et al report a prospective randomized controlled study comparing preoperative use of a tulobuterol (longacting beta agonist) dermal patch with placebo on the incidence of perioperative respiratory adverse events (PRAEs) in children undergoing adenotonsillectomy.
Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant