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How low can we go? Recognizing infants at high risk of cerebral palsy earlierThis paper is a timely reminder that we must recognise infants at high risk of cerebral palsy earlier using evidence-based assessments.
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Epigenome-wide association study reveals longitudinally stable DNA methylation differences in CD4+ T cells from children with IgE-mediated food allergyFood allergy is mediated by a combination of genetic and environmental risk factors, potentially mediated by epigenetic mechanisms.
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Gastrointestinal dysmotility in rett syndromeThrough evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
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Idiosyncratic nature of voriconazole photosensitivity in children undergoing cancer therapyIn adults, the unpredictability of voriconazole pharmacokinetics, particularly in those patients receiving chemotherapy, is well recognised. A paucity of...
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Epidemiology of T2DM in childhood and associated disease complicationsInvestigating the incidence of childhood Type 2 Diabetes in the Western Australian community
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Support Preferences and Clinical Decision Support Systems (CDSS) in the Clinical Care of Autistic Children: Stakeholder PerspectivesClinical decision support systems (CDSS) are increasingly utilised within healthcare settings to enhance decision making. However, few studies have investigated their application in the context of clinical services for autistic people, with no research to date exploring the perspectives of the key stakeholders who are, or in the future may be, impacted by their use.
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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayThe ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.
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Structural modification of the Pseudomonas aeruginosa alkylquinoline cell–cell communication signal, HHQ, leads to benzofuranoquinolines with anti-virulence behaviour in ESKAPE pathogensCitation: Rossetto V, Moore-Machacek A, Woods DF, ……. O’Gara F, McGlacken GP, Jerry Reen F. Structural modification of the Pseudomonas aeruginosa
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Golden Age of Medicine 2.0: Lifestyle Medicine and Planetary Health PrioritizedWe emphasize that barriers to planetary health and the clinical application of lifestyle medicine are maintaining an unhealthy status quo
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Microbiomic Analysis on Low Abundant Respiratory Biomass Samples; Improved Recovery of Microbial DNA From Bronchoalveolar Lavage FluidIn recent years the study of the commensal microbiota is driving a remarkable paradigm shift in our understanding of human physiology. However, intrinsic technical difficulties associated with investigating the Microbiomics of some body niches are hampering the development of new knowledge. This is particularly the case when investigating the functional role played by the human microbiota in modulating the physiology of key organ systems. A major hurdle in investigating specific Microbiome communities is linked to low bacterial density and susceptibility to bias caused by environmental contamination.