Pediatric pulmonology
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We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the CFTR gene. This case, highlighted by the identification of a deleterious, disease-causing mutation, illustrates the importance of maintaining both a high clinical suspicion for CF and low threshold for obtaining genetic testing in a non-Caucasian Hispanic adolescent with a characteristic clinical presentation.
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Pediatric pulmonology · Mar 2014
Case ReportsEndobronchial lesion due to pulmonary Fusobacterium nucleatum infection in a child.
Clinically significant infections due to the members of the genus Fusobacterium are rare. The clinical manifestations of pulmonary Fusobacterium nucleatum infections range from simple aspiration pneumonia to severe diseases as necrotizing pneumonia, lung abscess, and empyema. ⋯ Here, we report a case of endobronchial lesion due to pulmonary F. nucleatum infection in an entirely healthy child before illness. This is the first case reported in the literature of endobronchial lesion due to pulmonary F. nucleatum infection.
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Pediatric pulmonology · Mar 2014
Case ReportsDisseminated, large-sized neonatal pneumatoceles: the wait-and-see strategy.
Pulmonary pneumatoceles are thin-walled, air-filled cysts that develop within the lung parenchyma. Most often, they occur as a sequel of acute pneumonia, commonly caused by Staphylococcus aureus in children. Limited data are available about infective pulmonary cysts in newborns. We report a case of a newborn, who developed multiple pneumatoceles after Escherichia coli pneumonia.
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Pediatric pulmonology · Mar 2014
Mechanical ventilatory constraints during incremental exercise in healthy and cystic fibrosis children.
To analyze breathing pattern and mechanical ventilatory constraints during incremental exercise in healthy and cystic fibrosis (CF) children. ⋯ The hypothesis of this study was based on the assumption that mild cystic fibrosis could induce more frequent and more severe mechanical ventilatory constraints due to pulmonary impairment and breathing pattern disturbances. But, this study did not succeed to highlight an effect of mild cystic fibrosis on the mechanical ventilatory constraints (expFL and dynamic hyperinflation) that occur during an incremental exercise. This absence of effect could be due to the absence of an impact of the disease on spirometric data, breathing pattern regulation during exercise and breathing strategy.