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Research

Refining nosology by modelling variation among facial phenotypes: The RASopathies

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.

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A Journey from Wild to Textbook Data to Reproducibly Refresh the Wages Data from the National Longitudinal Survey of Youth Database

Textbook data is essential for teaching statistics and data science methods because it is clean, allowing the instructor to focus on methodology. Ideally textbook datasets are refreshed regularly, especially when they are subsets taken from an ongoing data collection.

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Child protection involvement of children of mothers with intellectual disability

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Research

Clinical significance and applications of oscillometry

Recently, "Technical standards for respiratory oscillometry" was published, which reviewed the physiological basis of oscillometric measures and detailed the technical factors related to equipment and test performance, quality assurance and reporting of results. Here we present a review of the clinical significance and applications of oscillometry.

Research

Food Proteins in Human Breast Milk and Probability of IgE-Mediated Allergic Reaction in Children During Breastfeeding: A Systematic Review

Previous reports suggested that food proteins present in human milk (HM) may trigger symptoms in allergic children during breastfeeding, but existing evidence has never been reviewed systematically.

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Methotrexate-related central neurotoxicity: clinical characteristics, risk factors and genome-wide association study in children treated for acute lymphoblastic leukemia

Symptomatic methotrexate-related central neurotoxicity (MTX neurotoxicity) is a severe toxicity experienced during acute lymphoblastic leukemia (ALL) therapy with potential long-term neurologic complications. Risk factors and long-term outcomes require further study.

Research

Prevalence and subtyping of biofilms present in bronchoalveolar lavage from children with protracted bacterial bronchitis or non-cystic fibrosis bronchiectasis: a cross-sectional study

Lower airway biofilms are hypothesised to contribute to poor treatment outcomes among children with chronic lung disease; however, data are scarce.

Research

Atelectasis and lung recruitment in pediatric anesthesia: An educational review

General anesthesia is associated with development of pulmonary atelectasis. Children are more vulnerable to the development and adverse effects of atelectasis. We review the physiology and risk factors for the development of atelectasis in pediatric patients under general anesthesia.

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Developmental respiratory physiology

Various developmental aspects of respiratory physiology put infants and young children at an increased risk of respiratory failure, which is associated with a higher rate of critical incidents during anesthesia.

Research

The “IKEA-effect” and modern anesthesia machines

Britta Regli-von Ungern-Sternberg MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant Paediatric