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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanismSeven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
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Pediatric Bronchiectasis Action Management Plan to Improve Clinical Outcomes: A Randomized Controlled TrialManaging bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.
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‘Mob want to see mob’: Aboriginal and Torres Strait Islander young peoples’ perspective on accessing primary health care services in urban southeast QueenslandThis study examines the enablers and barriers to accessing primary health care services from the perspective of Aboriginal and Torres Strait Islander people aged 15-24 years in urban southeast Queensland.
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Patient-reported perceptions, experiences and preferences around intravenous and oral antibiotics for the treatment of Staphylococcus aureus bacteremia: a descriptive qualitative studyThere is growing evidence to support partial oral antibiotic treatment of severe infections such as Staphylococcus aureus bacteremia, but clinical practice is slow to adopt this paradigm. We know little about how patients with severe infection experience and perceive intravenous and oral antibiotics in terms of quality of life and clinical effectiveness. We performed a qualitative study to elicit patients' views on treatment with intravenous and oral antibiotics, aiming to provide insights that could inform collaborative treatment decision-making.
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Prevalence of herbal medicine use for maternal conditions in Tanzania: a systematic review and meta-analysisStudies reported the prevalence of herbal medicines used for various maternal conditions across regions in Tanzanian communities. However, the lack of a national estimate of herbal medicine use makes it challenging for policymakers, herbal medicine regulators, and healthcare practitioners to make informed decisions on herbal medicine-related policies and practices to optimize their contribution to maternal healthcare.
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Marked Variation in Paediatric Problematic Severe Asthma Services Across Australia and New ZealandAsthma affects > 10% of children in Australia and New Zealand (NZ), with up to 5% of those having severe disease, presenting a management challenge. We aimed to survey tertiary paediatric respiratory services across Australia and NZ using a custom-designed questionnaire, to conduct a cross-sectional observational study of the numbers of children with problematic severe asthma seen, the number treated with biologic therapy, outpatient clinic/multidisciplinary team services available, investigations and tools routinely used and approaches utilised for transition to adult care.
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Bridging the gap: unveiling key links between autism and anxiety symptoms in autistic children and youth using a network analysis in pooled data from four countriesAutistic children experience significantly higher rates of anxiety compared to nonautistic children. The precise relations between autism characteristics and anxiety symptoms remain unclear in this population. Previous work has explored associations at the domain level, which involve examining broad categories or clusters of symptoms, rather than the relationships between specific symptoms and/or individual characteristics. We addressed this gap by taking a network approach to understand the shared structure of autism characteristics and anxiety symptoms.
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Pragmatic Low-Dose Oral Immunotherapy for Preschool Children With Peanut Allergy: A Randomised Controlled TrialPeanut allergy is the most common childhood-onset, persistent food allergy. Peanut oral immunotherapy (OIT) is a potential treatment, but few studies prospectively examine the outcome of peanut OIT in young children using parent-measured doses compared to standard care (peanut avoidance).
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Convalescent plasma in hospitalised patients with COVID-19Convalscent plasma (CP) was identified as a potential therapy for COVID-19 available early in the pandemic.
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Global risk of selection and spread of Plasmodium falciparum histidine-rich protein 2 and 3 gene deletionsSince their first detection in 2010, Plasmodium falciparum malaria parasites lacking the P. falciparum histidine-rich protein 2 gene (pfhrp2) have been observed in 40 of 47 surveyed countries, as documented by the World Health Organization. These genetic deletions reduce detection by the most widely used rapid diagnostic tests, prompting three countries to switch to alternative diagnostics.