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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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The Impact of Early-Life Recurrent Otitis Media in Children on the Psychological Well-Being of CaregiversChildren with early-life recurrent otitis media (OM) will often endure pain, sleep disturbances, and other developmental setbacks that impact the surrounding family system. The aim of this study was to investigate the psychological well-being and family functioning of caregivers of children with early-life recurrent OM (rOM).
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Beta Agonists for Prevention of Respiratory Adverse Events in Children Undergoing Adenotonsillectomy: Long-Acting, Short Acting, or Not ActingAdenotonsillectomy is one of the most common surgical interventions in children, and while generally safe, it is associated with a risk of significant adverse events. In this issue, Kim et al report a prospective randomized controlled study comparing preoperative use of a tulobuterol (longacting beta agonist) dermal patch with placebo on the incidence of perioperative respiratory adverse events (PRAEs) in children undergoing adenotonsillectomy.
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Understanding the implementation of health checks in the prevention and early detection of chronic diseases among Aboriginal and Torres Strait Islander people in Australia: a realist review protocolChronic disease remains the leading cause of morbidity and mortality among Aboriginal and Torres Strait Islander peoples in Australia. Regular structured, comprehensive health assessments are available to Aboriginal and Torres Strait Islander people as annual health checks funded through the Medicare Benefits Schedule.
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Histo-blood group antigen profile of Australian Aboriginal children and seropositivity following oral rotavirus vaccinationHisto-blood group antigens (HBGAs) may influence immune responses to rotavirus vaccination.
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Cardiometabolic disease risk markers are increased following burn injury in childrenBurn injury in children causes prolonged systemic effects on physiology and metabolism leading to increased morbidity and mortality, yet much remains undefined regarding the metabolic trajectory towards specific health outcomes.
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Simultaneous multiple breath washout and oxygen-enhanced magnetic resonance imaging in healthy adultsLung function testing and lung imaging are commonly used techniques to monitor respiratory diseases, such as cystic fibrosis (CF). The nitrogen (N2) multiple-breath washout technique (MBW) has been shown to detect ventilation inhomogeneity in CF, but the underlying pathophysiological processes that are altered are often unclear.
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Prognostication of treatment non-compliance among patients with multidrug-resistant tuberculosis in the course of their follow-up: a logistic regression–based machine learning algorithmDrug compliance is the act of taking medication on schedule or taking medication as prescribed and obeying other medical instructions. It is the most crucial aspect in the treatment of chronic diseases particularly for patients with multidrug-resistant tuberculosis (MDR-TB). Drug non-compliance is the main reason for causing drug resistance and poor treatment outcomes.
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Maternal Vaccination to Prevent Adverse Pregnancy Outcomes: An Underutilized Molecular Immunological Intervention?Adverse pregnancy outcomes including maternal mortality, stillbirth, preterm birth, intrauterine growth restriction cause millions of deaths each year. More effective interventions are urgently needed. Maternal immunization could be one such intervention protecting the mother and newborn from infection through its pathogen-specific effects.