The choice of antibiotics for sinusitis in children with cystic fibrosis (CF) is empirical or based on lower airway cultures, because sinus cultures are difficult to obtain. The aim of this study was to identify the main organisms cultured from CF children with chronic sinusitis, and to evaluate the concordance of concomitant sinus, oropharyngeal swab (OP), and bronchoalveolar lavage fluid (BALF) cultures. OP and BALF cultures were done preoperatively, and sinus cultures were obtained during clinically indicated sinus surgery. The genetic identity of the bacteria was compared if the same organisms were present in upper and lower airway cultures. In total, 45 paired sinus-BALF cultures from 31 patients were included. Twenty-four of these had matched OP cultures. The mean age of patients was 9.5 +/- 4.3 years, and 19 patients were DeltaF508 homozygous. Bacterial sinus infection was present in 96%, caused by S. aureus (49%), P. aeruginosa (42%), and H. influenzae (22%). The diagnostic accuracy of BALF or OP cultures was low in predicting sinus infection, particularly at younger ages. Positive and negative predictive values (PPV and NPV) of BALF for P. aeruginosa infection were 65% and 67%, and for S. aureus, 76% and 63%, respectively. Predictive values for OP cultures were similar. Bacterial species were the same in sinus and OP or BALF samples of 12 patients of these bacteria 83% showed genetic identity. We conclude that S. aureus is an important pathogen in pediatric CF sinusitis, and that BALF or oropharyngeal cultures are poor predictors for organisms present in the sinuses.

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Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.

Objective: To explore interrater and intrarater reliability (R inter and R intra , respectively) of a standardized scale applied to nasoendoscopic assessment of velopharyngeal (VP) function, across multiple centers. Design: Multicenter blinded R inter and R intra study.

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10−10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.

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The present study was undertaken to determine in model studies whether currently available acoustic rhinometry instrumentation might be used to analyze the nasal cavity configuration of infants and children. A simple nasal cavity model was constructed using eight Lucite inserts that were placed between standard nosepieces provided by the manufacturer and a 35-cm-long polyvinyl chloride pipe closed at its distal end. To simulate the nasal valve, the inserts were 12 mm in length and had apertures ranging in diameter from 2 to 9 mm. A series of experiments was conducted to evaluate the accuracy with which the acoustic rhinometer measured the size of each insert aperture and the configuration of the model system distal to that aperture. Transmission losses caused errors in the area measurement of the insert aperture and the tube distal to the insert. When the insert aperture was < 6 mm in diameter (0.28 cm2), the aperture area was overestimated by > 10%, whereas the area of the distal tube was underestimated by > 10%. As a result of response lags, the acoustic rhinometer also failed to provide an accurate indication of insert length. Finally, oscillation artifacts caused estimates of the distal pipe area to fluctuate. These three systematic errors are described, and their potential impact on acoustic rhinometry in children is discussed.

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