Pediatric pulmonology
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Pediatric pulmonology · Feb 2012
Lung function decline from adolescence to young adulthood in cystic fibrosis.
Despite improving survival in cystic fibrosis (CF) patients, there is a mortality peak in early adulthood. Defining risk factors that predict significant worsening of lung disease in young adulthood may identify opportunities to improve outcomes in adults. ⋯ Decline in lung function accelerates in young adults with CF, especially in those with early stage lung disease. Adolescents at risk for substantial decline in lung function in young adulthood have higher FEV(1) and worse nutritional status, among other identifiable risk factors.
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Pediatric pulmonology · Feb 2012
Case ReportsVariable human phenotype associated with novel deletions of the PHOX2B gene.
Clinical testing for PHOX2B mutations is widely used for patients with any symptoms suggestive of hypoventilation (with/without anatomic/physiologic autonomic dysregulation), though not necessarily with the congenital central hypoventilation syndrome (CCHS) phenotype. Consequently, a multitude of referrals for clinical PHOX2B testing (fragment analysis of the 20 polyalanine repeat region and/or sequencing of entire coding region) have no identifiable mutation. Whole gene deletions/duplications have recently been identified as a common disease-causing mechanism, but have not been reported in a clinical population referred for PHOX2B testing. The objective of this study was to determine if PHOX2B exon or whole gene deletion/duplication would be identified in a subset of patients referred for PHOX2B testing. ⋯ PHOX2B exon or whole gene deletion should be considered as another mechanism of disease which may include CCHS, Hirschsprung disease, and/or tumors of neural crest origin, although the genotype-phenotype relationship requires further clarification. Pediatr Pulmonol. 2012; 47:153-161. © 2011 Wiley Periodicals, Inc.
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Pediatric pulmonology · Jan 2012
A study of the use of impulse oscillometry in the evaluation of children with asthma: analysis of lung parameters, order effect, and utility compared with spirometry.
The ability to objectively measure lung function in children is critical in the assessment and treatment of asthma in this age group. We thus determined the effectiveness of impulse oscillometry (IOS) as a non-invasive technique to assess lung function in children and in comparison to spirometry for sensitivity and specificity, testing variability, and the order effect of sequential testing of IOS and spirometry. ⋯ In the diagnosis and management of children with lung disease, IOS is a non-invasive approach that easily and objectively measures lung impedance and should be considered as both an adjunct, and in some situations, an alternative to standard spirometry.
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Pediatric pulmonology · Jan 2012
Randomized Controlled TrialComparison of pressure-, flow-, and NAVA-triggering in pediatric and neonatal ventilatory care.
To compare conventional trigger modes (pressure and flow trigger) to neurally adjusted ventilatory assist (NAVA), a novel sensing technique, and to observe the patient-ventilator interactions during these modes. ⋯ NAVA offers a novel way of sensing patients' spontaneous breathing and significantly improves short-term patient-ventilator synchrony in a pediatric population.
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Pediatric pulmonology · Jan 2012
Case ReportsRecurrent pleural effusion without intrathoracic migration of ventriculoperitoneal shunt catheter: a case report.
Pleural effusion is a rare complication of ventriculoperitoneal (VP) shunting, usually due to the migration of the VP shunt catheter into the thorax. Herein we report a neurologically disadvantaged child with a lobar holoprosencephaly and hydrocephalus, initially treated with a VP shunt, who years later developed recurrent right-sided pleural effusion ultimately confirmed to be a cerebrospinal fluid (CSF) hydrothorax without intra-thoracic migration of the distal shunt catheter. Thoracentesis was compatible with a transudative effusion. ⋯ Video-assisted thoracoscopic (VATS) exploration with drainage of the pleural effusion and pleurodesis was then performed. No diaphragmatic defect or shunt tubing within the thorax was found and the procedure failed to resolve the effusion. The patient's recurrent effusion was ultimately resolved with intracranial endoscopic choroid plexus coagulation to decrease CSF output.