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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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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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Current Practices and Priorities of Anesthetists and Consumers for Infants Undergoing Inguinal Hernia SurgeryThere is a paucity of data on the chosen anesthesia management for infant inguinal hernia surgery. We aimed to characterize self-reported anesthetic practice in Australia and New Zealand. We also aimed to identify the outcomes that matter to both anesthetists and to parents and carers.
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The CoolCot trial: active methods of therapeutic hypothermia for newborns with hypoxic ischaemic encephalopathy during neonatal transport: a study protocol for a randomised controlled trialImpaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.
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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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Corrigendum to “Developmental trajectories of socio-emotional outcomes of children and young people in out-of-home care – Insights from data of Pathways of Care Longitudinal Study (POCLS)”Yalemzewod Assefa Gelaw PhD, MPH, BSc Honorary Research Associate Yalemzewod.Gelaw@thekids.org.au Honorary Research Associate Dr Yalemzewod Gelaw
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Relationship between group B Streptococcal rectovaginal colonization and Vitamin D deficiency in pregnant womenVitamin D has been recognized to have a significant impact on modulating immune response in the host body. The relationship between deficiency of Vitamin D and rectovaginal colonization with Group B Streptococcus (GBS) in pregnant women is still not well understood.
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Follow-up and Outcomes of Infants Perinatally-exposed to HIV in a Low-prevalence Setting: The Multicenter Children's HIV Exposure Study 2To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence. This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.
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Educational pathways and earnings trajectories of second-generation immigrants in Australia: New insights from linked census-administrative dataThis study employs 2011 Census data linked to population-based administrative datasets to explore disparities in educational attainment and earnings trajectories among Australian-born children of diverse parental migration backgrounds from mid-adolescence to early adulthood.
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Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndromeTo evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.