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Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures

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The outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health

Research

Recently, 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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The risk of entry to state care during infancy is increasing, both here in England and abroad, with most entering within a week of birth ('newborns'). However, little is known about these infants or of their pathways through care over early childhood.

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Multidrug-resistant tuberculosis (MDR-TB) is a major global public health concern. However, there is a dearth of literature on whether MDR-TB and its medications impact maternal and perinatal outcomes, and when such evidence exists the findings are conflicting. This systematic review and meta-analysis aimed to examine the impact of MDR-TB and its medications during pregnancy on maternal and perinatal outcomes.

Research

ClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.

Research

Broad community acceptance of a COVID-19 vaccination will be critical for effectively halting the spread of the virus. In this study, we focus on factors that differentiate those who are undecided from those who are either willing or unwilling to accept a prospective COVID-19 vaccine. An online survey in May 2020 assessed Australian adults' willingness to receive a COVID-19 vaccine (yes, maybe, no). A multinomial logistical regression of responses (N = 1,313) was used to identify correlates of vaccine willingness between the three groups.

Research

To describe and explore carer quality of life and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. A cross-sectional population-based, comprehensive survey including the Adult Carer questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively.

Research

A search strategy was developed to identify tools used to evaluate standard and teleaudiology hearing aid rehabilitation services for adults. A seven-domain hearing-health-care service model for validation was defined and used to analyse the applicability and suitability of patient- and service-centred tools. This model and the applicability and suitability criteria were based on the literature, the International Classification of Functioning (ICF) framework, and gold standard professional practice guidelines, which together formed the validation framework used in this study.

Research

Tonsillectomy is one of the most common pediatric surgeries and results in considerable postoperative pain. Insufficiently managed pain is costly, risks physiological and psychological consequences with multi-modal analgesia widely recommended to minimize opioid-based agents. We determined adherence to multi-modal analgesia guidelines and assessed cost-effectiveness. We undertook a cross-sectional cohort study at a tertiary pediatric institution in Perth, Western Australia, retrospectively identifying selected patients undergoing tonsillectomy over two discrete periods of 6-week duration.