Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study.

OBJECTIVE: This project aims to prospectively and objectively assess otolaryngological manifestations and quality of life of children with primary ciliary dyskinesia (PCD) and compare these findings with healthy pediatric controls. STUDY DESIGN: Cross-sectional. SETTING: Two high-volume pediatric PCD specialty centers. METHODS: Standardized clinical assessment; Sino-Nasal Outcome Test 22 (SNOT-22); Hearing Environment and Reflection Quality of Life (HEAR-QL); Reflux Symptom Index (RSI); standardized physical examination of the sinonasal, laryngeal, and otological systems; and investigations including pure-tone audiograms (PTAs) and sinonasal cultures were collected. RESULTS: Forty-seven children with PCD and 25 control participants were recruited. Children with PCD had more upper airway symptoms than healthy children. They had significantly higher scores in both SNOT-22 and RSI, indicating worse sinonasal and reflux symptoms, with worse quality of life on the HEAR-QL index compared to healthy children (P < .05). Fifty-two percent of children with PCD-related hearing loss were not aware of their hearing deficit that was present on audiological assessment, and only 23% of children who had ventilation tubes had chronic otorrhea, most of which was easily controlled with ototopic drops. Furthermore, although all children with PCD had chronic rhinosinusitis, only 36% of them were using topical nasal treatment. The most common bacteria cultured from the middle meatus were Staphylococcus aureus in 11 of 47 (23%), followed by Streptococcus pneumoniae in 10 of 47 (21%). CONCLUSION: This multisite cohort highlights the importance of otolaryngology involvement in the management of children with PCD. More rigorous otolaryngological management may lead to reductions in overall morbidity and improve quality of life for children with PCD.

Unilateral Facial Paralysis in the Pediatric Patient.

Unilateral facial paralysis (FP) in the pediatric population is a rare entity secondary to multiple etiologies including infectious, vascular, and neoplastic. In persistent or recurrent FP, imaging can demonstrate a peripheral facial nerve (FN) lesion. Given the rarity of FN lesions, however, there is limited literature regarding optimal management. In this case series, we describe the presentation, evaluation, and management of unilateral FP in three pediatric patients along with a review of the literature. All patients presented with complete FP due to a peripheral FN lesion or compression of the FN. A combined mastoid and middle cranial fossa approach was utilized for excision in two cases, and the other child underwent a translabyrinthine approach. The pathology of the lesions revealed a meningioma, an arachnoid cyst, and a hemangioma. Presentation, evaluation, post-operative outcomes, as well as final pathologies are discussed.

A Protocol for Resection and Immediate Reconstruction of Pediatric Mandibles Using Microvascular Free Fibula Flaps.

PURPOSE: The use of a vascularized free fibula graft (FFF) for the reconstruction of a mandible in a child with a mandibular tumor is infrequent. The purpose of this study is to report our protocol for resection of mandibular jaw tumors and immediate reconstruction using FFF in pediatric patients. METHODS: This was a retrospective case series of children with a mandibular tumor, which was resected and immediately reconstructed with FFF. All patients were treated via the same staged protocol: 1) presurgical digital planning, 2) surgical intervention (resection and immediate reconstruction), 3) postoperative care in the pediatric intensive unit, and 4) prosthodontic dental rehabilitation. Outcomes were complications and recurrence. Medical records were reviewed to document demographic information, tumor details, surgical interventions, postoperative course, and prosthodontic rehabilitation. RESULTS: Fifteen patients (10 males, average age of 13.7 years) met inclusion criteria. Ten patients had mandibular ameloblastoma. All patients were treated by a dedicated pediatric team and followed the same protocol. The average tumor size was 4.87 × 3.22 × 2.03 cm. Most fibulas (n = 12) had one osteotomy to reestablish mandibular continuity and create appropriate contour. The most common microvascular anastomosis was with a facial artery (n = 13) and the external jugular vein (n = 9). At an average follow-up of 15.5 months, there were only 3 minor donor site complications. Eight implants were placed without complications. No tumors recurred. CONCLUSIONS: The results of this study suggest that pediatric mandibular tumors can be successfully treated using a specific protocol involving resection and immediate reconstruction using FFF with minimal complications and without recurrence.

Posterior Tongue Tie, Base of Tongue Movement, and Pharyngeal Dysphagia: What is the Connection?

Ankyloglossia, or tongue tie, and its impact on the oral phase of feeding has been studied and debated for decades. However, the impact of posterior tongue ties on the pharyngeal phase of swallowing is not well documented in the literature. A videofluoroscopic swallow study (VFSS) allows for visualization of the oral, pharyngeal, and esophageal phases of the swallow. When decreased base of tongue movement, impaired pharyngeal pressure generation, and presence of pharyngeal residue are noted during a VFSS, a neurologic etiology can be suspected. However, in the setting of a normal MRI with normal motor development, other etiologies need to be explored. If it is not neurologic, could it be anatomic? We present a 21-month-old patient with significant pharyngeal phase dysphagia which was most saliently characterized by impaired base of tongue movement, poor pressure generation, and diffuse residue resulting in aspiration. He was eventually diagnosed with a posterior tongue tie and underwent a frenulectomy. Results via subsequent VFSS revealed significant improvement in base of tongue movement, pharyngeal pressure generation, and pharyngeal constriction, resulting in efficient movement of the bolus through the pharynx into the esophagus, no nasopharyngeal regurgitation, no aspiration, and near resolution of his pharyngeal dysphagia. Patients with impaired base of tongue movement and impaired pressure generation resulting in pharyngeal residue in the setting of a normal neurologic workup could possibly present with a posterior tongue tie which should be examined and included in the differential diagnosis.

What's New with Tubes, Tonsils, and Adenoids?

Evidence-based recommendations are constantly being updated for various pediatric surgical procedures, including the role for tympanostomy tubes, as well as indications for adenoidectomy and tonsillectomy. With a growing body of research available on some of the most prevalent pediatric conditions, an update on the current concepts surrounding management is warranted.

Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.

BACKGROUND: Muckle-Wells syndrome (MWS) is a rare auto-inflammatory disease characterized by the presence of recurrent urticaria, deafness and amyloidosis. Progressive sensorineural hearing loss (SNHL) is reported to occur in up to 85% of patients occurring in the second and third decades and as early as the first decade in patients with a more severe phenotype, thus potentially having a significant impact on a child's development. IL-1 inhibitors, such as Anakinra, have been described to improve systemic inflammation, and stabilize or improve hearing status as well. However, complete resolution of hearing loss has been rarely reported. The objective of this article is to highlight the clinical presentation of a pediatric patient with a severe form of MWS and report on the complete resolution of SNHL with the use of Anakinra. CASE PRESENTATION: A 3-year-old boy was referred to our hospital to assess for the possibility of MWS given a history of hives and recurrent episodes of fever with a family history of MWS in his mother. Of note, the patient's history was significant for conductive hearing loss, speech delay, as well as recurrent acute otitis media episodes. Genetic analysis was performed and diagnosis of MWS was confirmed due to the presence of a NLRP3 gene mutation. Further work-up demonstrated the presence of papilledema and elevation of systemic inflammatory markers for which Canakinumab was initiated. Despite initiation of this treatment, audiogram evaluation demonstrated a new right-sided SNHL. Lumbar puncture also revealed aseptic meningitis. Canakinumab was eventually discontinued and Anakinra initiated. Within 7 months of treatment with Anakinra at 5 mg/kg sc daily, resolution of the SNHL was observed. With further escalation of the Anakinra dose, there was also complete resolution of the aseptic meningitis. CONCLUSIONS: Progressive hearing loss is a significant finding in patients with MWS. Early screening as well as initiation of Anakinra can lead to complete resolution of SNHL even in a patient with a severe spectrum of MWS. However, as this case demonstrates, longer treatment duration and higher doses of Anakinra may be required to achieve this.

Management of cricopharyngeal achalasia in an 8-month child using endoscopic cricopharyngeal myotomy.

A term baby was transferred to our tertiary care center with desaturations and inability to manage upper airway secretions. Rigid bronchoscopy and swallowing study revealed cricopharyngeal (CP) achalasia. A gastrostomy tube insertion and Botulinum Toxin-A injection were performed at 6 weeks of age. Improvement of symptoms was observed, however were short-lived requiring recurrent injections. Given the symptom severity, at 8 months, a successful endoscopic CP myotomy was performed. Patient was able to tolerate oral feeds as early as 2 months post-operatively. This is the youngest patient, to our knowledge, treated with endoscopic CP myotomy. Intraoperative pictures and video are presented.

Concha bullosa mucocele: A case series and review of the literature.

BACKGROUND: Concha bullosa mucocele is a rare diagnosis that presents as a nasal mass. It impinges on surrounding structures and can easily be mistaken for a neoplasm. OBJECTIVE: The objective of this study was to shed light on this rare entity and report its diagnostic features and treatment outcomes. METHODS: A case series conducted in a tertiary health care center. Demographic data, clinical presentation, imaging, cultures, and treatments were recorded. Operative video illustration and key images were obtained. A review of the literature was also performed. RESULTS: A total of five cases were reviewed, four of which were concha bullosa mucoceles and one was a mucopyocele. Three of the patients had some form of previous nasal trauma. Headache and nasal obstruction were the most common symptoms with a nasal mass finding on physical examination. Computed tomography was used in all the patients, and magnetic resonance imaging was used in four of the five patients. Four patients had coexistent chronic rhinosinusitis, and three had positive bacterial cultures. All these patients were treated endoscopically either with middle turbinate marsupialization or subtotal resection. No recurrence has been noted thus far. CONCLUSION: Concha bullosa mucocele is a rare diagnosis. Imaging characteristics are helpful in considering the diagnosis, although surgical intervention is often necessary to confirm the diagnosis and treat concha bullosa mucocele.

The Relationship between Stapes Prosthesis Length and Rate of Stapedectomy Success.

OBJECTIVES: To identify whether measurement of the prosthesis length is mandatory in patients requiring otosclerosis surgeries and to assess their postoperative audiometric outcomes. In addition, evaluation of prosthesis length used in revision compared to primary stapedectomy was carried out. STUDY DESIGN: Case series with chart review. METHODS: Chart review of 393 patients undergoing primary (321) versus revision stapedectomy (72) was performed in a tertiary referral center. The indication for surgery was the presence or persistence/recurrence of an air-bone gap (ABG) greater than 20 dB. Air and bone conduction thresholds (ACT and BCT, respectively), ABG as well as pure tone averages (PTAs) were determined for all patients, and the results were compared preoperatively and postoperatively. RESULTS: Prosthesis length used ranged from 3.0 to 6.0 mm without differences between primary and revision groups. Of the revision surgeries, 62.5% were stapedectomies versus stapedotomies (P < 0.001). Patients showed significant decrease in speech discrimination score, with increased air and bone conduction thresholds as well as mean ABG and PTA before the revision surgeries as a first procedure failure. Prosthesis length changes occurred in 73.5% of the cases, with an average absolute change of 0.55 mm. Prosthesis length did not affect postoperative audiometric results between primary and revision groups, in all surgeries combined. When grouping stapes surgery into accurately versus inaccurately measured incus-footplate distance, significant differences were observed in prosthesis length employed (P < 0.01). Hearing outcomes were also better in the group in which an accurately measured prosthesis was chosen, as opposed to "standard-length" prosthesis. CONCLUSIONS: This study corroborates postoperative success rates of revision surgeries, which show smaller improvements in hearing compared to a primary intervention. Accurate intra-operative measurement of prosthesis length was correlated with better audiometric results postoperatively.

Concomitant exposure to ovalbumin and endotoxin augments airway inflammation but not airway hyperresponsiveness in a murine model of asthma.

Varying concentrations of lipopolysaccharide (LPS) in ovalbumin (OVA) may influence the airway response to allergic sensitization and challenge. We assessed the contribution of LPS to allergic airway inflammatory responses following challenge with LPS-rich and LPS-free commercial OVA. BALB/c mice were sensitized with LPS-rich OVA and alum and then underwent challenge with the same OVA (10 µg intranasally) or an LPS-free OVA. Following challenge, bronchoalveolar lavage (BAL), airway responsiveness to methacholine and the lung regulatory T cell population (Treg) were assessed. Both OVA preparations induced BAL eosinophilia but LPS-rich OVA also evoked BAL neutrophilia. LPS-free OVA increased interleukin (IL)-2, IL-4 and IL-5 whereas LPS-rich OVA additionally increased IL-1ß, IL-12, IFN-γ, TNF-α and KC. Both OVA-challenged groups developed airway hyperresponsiveness. TLR4-deficient mice challenged with either OVA preparation showed eosinophilia but not neutrophilia and had increased IL-5. Only LPS-rich OVA challenged mice had increased lung Tregs and LPS-rich OVA also induced in vitro Treg differentiation. LPS-rich OVA also induced a Th1 cytokine response in human peripheral blood mononuclear cells.We conclude that LPS-rich OVA evokes mixed Th1, Th2 and innate immune responses through the TLR-4 pathway, whereas LPS-free OVA evokes only a Th2 response. Contaminating LPS is not required for induction of airway hyperresponsiveness but amplifies the Th2 inflammatory response and is a critical mediator of the neutrophil, Th1 and T regulatory cell responses to OVA.

Allergen challenge during halothane compared to isoflurane anesthesia induces a more potent peripheral lung response.

Allergen instillation in anaesthetized vs. awake animals results in increased distribution of allergen in the lung. Halothane is a more potent bronchodilator of the small airways than isoflurane. As small airways contribute to asthma pathogenesis, we questioned whether intranasal challenge under halothane vs. isoflurane anesthesia would lead to an increase in allergen deposition in the lung periphery and, consequently, an enhanced allergic response. C57Bl/6 mice were sensitized twice and repeatedly challenged with ovalbumin (OA) under halothane or isoflurane anesthesia. After OA-challenge, in vivo lung function was measured and BAL performed. Peribronchial and peripheral inflammation, cytokine mRNA production and collagen deposition were assessed. Airway hyperresponsiveness, BAL eosinophilia, peripheral lung inflammation, IL-5 mRNA production and collagen deposition were significantly increased in halothane OA-challenged compared to isoflurane OA-challenged mice. Airway challenge induced a higher level of airway hyperresponsiveness, inflammation and remodeling under halothane than isoflurane anesthesia in a murine model of asthma. These differences may be due to increased allergen deposition in the small airways.

Heart rate variability and extubation readiness in extremely preterm infants.

BACKGROUND: Mechanical ventilation (MV) is associated with changes in autonomic nervous system activity in preterm infants, which can be assessed by measurements of heart rate variability (HRV). Decreased HRV has been described in adults undergoing disconnection from MV; such information is not available in preterm infants. OBJECTIVE: To compare differences in HRV between infants successfully extubated and those who failed, and to evaluate the accuracy of HRV as a predictor of extubation readiness. METHODS: This is a prospective, observational study of infants with a birth weight ≤1,250 g undergoing their first extubation attempt. Heart rate was measured during a 60-min period immediately prior to extubation and HRV was calculated using the frequency domain analysis. RESULTS: A total of 47 infants were studied; 36 were successfully extubated and 11 reintubated. There were no differences in patient demographics, ventilator settings, blood gases or postextubation management between the groups. All components of the HRV analysis were significantly decreased in infants who failed, generating high areas under the receiver operating characteristic curve. The specificity and positive predictive values were 100, but with limited sensitivity and negative predictive values. CONCLUSIONS: Infants considered 'ready to be extubated' but who subsequently failed their first extubation attempt had decreased HRV prior to extubation. Though promising, the value of HRV as a predictor of extubation readiness requires further evaluation.

Recurrent tube insertion for chronic otitis media with effusion in children over 6 years.

OBJECTIVE: The purpose of this study is to identify the clinical characteristics of children above 6 years of age with chronic otitis media with effusion (COME) who have required pressure equalizing tube (PET) insertions. METHODS: A retrospective chart review was performed of all children above the age of 6 years, who underwent PET insertion due to chronic OME, between 2000 and 2009 at a tertiary care institution. Children were also divided into those with a single PET and those with ≥ 2 PET. Comparison of various characteristics between the two groups was undertaken. RESULTS: 290 children were identified as having at least one PET insertion after the age of 6 years. 45.5% of the children underwent a single PET insertion while 54.5% underwent 2 procedures or more. No significant gender-based difference was observed. In those patients requiring ≥ 2 PET, 65.2% also underwent tonsillectomy and/or adenoidectomy compared to only 53.8% of children with a single PET intervention (p<0.05). Asthma, trisomy 21 and cleft palate, were more common in those children who had undergone ≥ 2 PET (p<0.001, p<0.01 and p<0.05, respectively). CONCLUSIONS: Children above 6 years of age who have undergone ≥ 2 PET insertions for COME demonstrated an increased rate of tonsillectomy and adenoidectomy. Trisomy 21, cleft palate and particularly, asthma, were also found to be risk factors for COME necessitating ≥ 2 PET insertions.

A role for decorin in a murine model of allergen-induced asthma.

Decorin (Dcn) is an extracellular matrix proteoglycan, which affects airway mechanics, airway-parenchymal interdependence, airway smooth muscle proliferation and apoptosis, and transforming growth factor-ß bioavailability. As Dcn deposition is differentially altered in asthma, we questioned whether Dcn deficiency would impact the development of allergen-induced asthma in a mouse model. Dcn(-/-) and Dcn(+/+) mice (C57Bl/6) were sensitized with ovalbumin (OA) and challenged intranasally 3 days/wk × 3 wk. After OA challenge, mice were anesthetized, and respiratory mechanics measured under baseline conditions and after delivery of increasing concentrations of methacholine aerosol. Complex impedance was partitioned into airway resistance and tissue elastance and damping. Bronchoalveolar lavage was performed. Lungs were excised, and tissue sections evaluated for inflammatory cell influx, α-smooth muscle actin, collagen, biglycan, and Dcn deposition. Changes in TH-2 cytokine mRNA and protein were also measured. Airway resistance was increased in OA-challenged Dcn(+/+) mice only (P < 0.05), whereas tissue elastance and damping were increased in both OA-challenged Dcn(+/+) and Dcn(-/-), but more so in Dcn(+/+) mice (P < 0.001). Inflammation and collagen staining within the airway wall were increased with OA in Dcn(+/+) only (P < 0.001 and P < 0.01, respectively, vs. saline). IL-5 and IL-13 mRNA were increased in lung tissue of OA-challenged Dcn(+/+) mice. Dcn deficiency resulted in more modest OA-induced hyperresponsiveness, evident at the level of the central airways and distal lung. Differences in physiology were accompanied by differences in inflammation and remodeling. These findings may be, in part, due to the well-described ability of Dcn to bind transforming growth factor-ß and render it less bioavailable.

Allergen-induced asthma in C57Bl/6 mice: hyper-responsiveness, inflammation and remodelling.

The relationship among airway responsiveness, inflammation and remodelling in asthma is incompletely understood. To investigate potential mechanistic associations, allergen-induced asthma was studied in C57Bl/6 mice. Mice were sensitized and challenged with ovalbumin (OVA) using sub-acute (SA) or chronic (C) protocols. Responsiveness was assessed by measuring respiratory impedence which was partitioned into airway resistance (Raw) and distal lung components (Gti, Hti) during methacholine-induced constriction. Inflammation, airway mucus, airway smooth muscle, collagen, biglycan and decorin were quantified. The airways were sub-divided into central or peripheral. In SA and C OVA, Raw, Gti and Hti responsiveness were significantly increased; the peripheral response was significantly greater in SA vs C OVA. Airway inflammation and mucus were increased in both groups, but more significantly in peripheral airways in SA OVA. In the SA OVA model, inflammation and mucus appear to drive the mechanical response, especially in the lung periphery; airway remodelling seems to contribute to hyper-responsiveness to an equivalent degree, after both challenge protocols.