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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
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The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosisWe argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations
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Analytical bias in the measurement of plasma 25-hydroxyvitamin D concentrations in infantsTo our knowledge, this is the first study to show that the reported 25(OH)D concentration may be influenced by both age and assay type
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Acute Rheumatic Fever and Rheumatic Heart Disease, 1st EditionAcute Rheumatic Fever and Rheumatic Heart Disease is a concise, yet comprehensive, clinical resource highlighting must-know information on rheumatic heart disease and acute rheumatic fever from a global perspective
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Topical antiseptics for chronic suppurative otitis mediaThe effectiveness and safety profile of antiseptics in the treatment of chronic suppurative otitis media is uncertain
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A method for the generation of large numbers of dendritic cells from CD34+ hematopoietic stem cells from cord bloodNeonatal dendritic cells generated form CD34+ cord blood progenitors have a higher inflammatory potential when exposed to viral than bacterial related stimuli
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Early life exposure to coal mine fire smoke emissions and altered lung function in young childrenInfant exposure to coal mine fire emissions could be associated with long-term impairment of lung reactance
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Optimized peripheral blood progenitor cell mobilization for autologous hematopoietic cell transplantation in children with high-risk and refractory malignanciesOur approach to hematopoietic progenitor cells mobilization resulted in highly effective HPC harvest in children and adolescents with high-risk cancers
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A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromesHereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.
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A place for neutrophils in the beneficial pathogen-agnostic effects of the BCG vaccineThe BCG vaccine has long been recognized for reducing the risk to suffer from infectious diseases unrelated to its target disease, tuberculosis. Evidence from human trials demonstrate substantial reductions in all-cause mortality, especially in the first week of life. Observational studies have identified an association between BCG vaccination and reduced risk of respiratory infectious disease and clinical malaria later in childhood.