21 research outputs found
Quantitative Methylation Profiles for Multiple Tumor Suppressor Gene Promoters in Salivary Gland Tumors
Methylation profiling of tumor suppressor gene (TSGs) promoters is quickly becoming a powerful diagnostic tool for the early detection, prognosis, and even prediction of clinical response to treatment. Few studies address this in salivary gland tumors (SGTs); hence the promoter methylation profile of various TSGs was quantitatively assessed in primary SGT tissue to determine if tumor-specific alterations could be detected.DNA isolated from 78 tumor and 17 normal parotid gland specimens was assayed for promoter methylation status of 19 TSGs by fluorescence-based, quantitative methylation-specific PCR (qMSP). The data were utilized in a binary fashion as well as quantitatively (using a methylation quotient) allowing for better profiling and interpretation of results..Screening promoter methylation profiles in SGTs showed considerable heterogeneity. The methylation status of certain markers was surprisingly high in even normal salivary tissue, confirming the need for such controls. Several TSGs were found to be associated with malignant SGTs, especially SDC. Further study is needed to evaluate the potential use of these associations in the detection, prognosis, and therapeutic outcome of these rare tumors
Drug-induced sleep endoscopy in persistent pediatric sleep-disordered breathing after adenotonsillectomy.
ObjectivesTo demonstrate the feasibility of drug-induced sleep endoscopy (DISE) in the pediatric population and to examine DISE results in children with persistent sleep-disordered breathing (SDB) after tonsillectomy and adenoidectomy (T&A).DesignRetrospective case series with medical chart review.SettingTertiary pediatric medical center.PatientsThirteen pediatric subjects with persistent SDB after T&A are included in the study.InterventionDrug-induced sleep endoscopy was per-formed on all patients with documentation of all sites of persistent airway obstruction.ResultsMultilevel upper-airway obstruction was identified in the majority of patients, most commonly related to tongue base obstruction, adenoid regrowth, and/or inferior turbinate hypertrophy. There were no differences among the 4 subgroups.ConclusionsFindings from DISE suggest that multiple factors contribute to airway obstruction in persistent SDB after T&A. Further research can address the extent to which directed surgical treatment can improve outcomes in these patients
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Drug-induced sleep endoscopy in persistent pediatric sleep-disordered breathing after adenotonsillectomy.
ObjectivesTo demonstrate the feasibility of drug-induced sleep endoscopy (DISE) in the pediatric population and to examine DISE results in children with persistent sleep-disordered breathing (SDB) after tonsillectomy and adenoidectomy (T&A).DesignRetrospective case series with medical chart review.SettingTertiary pediatric medical center.PatientsThirteen pediatric subjects with persistent SDB after T&A are included in the study.InterventionDrug-induced sleep endoscopy was per-formed on all patients with documentation of all sites of persistent airway obstruction.ResultsMultilevel upper-airway obstruction was identified in the majority of patients, most commonly related to tongue base obstruction, adenoid regrowth, and/or inferior turbinate hypertrophy. There were no differences among the 4 subgroups.ConclusionsFindings from DISE suggest that multiple factors contribute to airway obstruction in persistent SDB after T&A. Further research can address the extent to which directed surgical treatment can improve outcomes in these patients
Airway hemangiomas in PHACE syndrome.
Objectives/hypothesisTo describe the clinical presentation and airway characteristics of infants with airway hemangiomas and concomitant PHACE syndrome and to determine the prevalence of airway hemangiomas in PHACE subjects at our institution.Study designCase series.MethodsRetrospective review including clinical presentation, airway findings, treatment measures, and outcomes.ResultsA total of 23 subjects were diagnosed with definite PHACE at our institution between September 1, 2005 and September 1, 2011. Twelve (52%) of these subjects had documented airway hemangiomas, six of whom were diagnosed and treated at our institution. All six subjects underwent direct laryngoscopy and bronchoscopy by a pediatric otolaryngologist. Five (83%) subjects had subglottic hemangioma. Three subjects (50%) had additional hemangioma within the airway located on the epiglottis, vocal folds, posterior pharyngeal wall, and tracheal wall. Five subjects (83%) were treated with propranolol, five (83%) were treated with systemic steroids, and one subject received vincristine. One subject required laser ablation of subglottic hemangioma and tracheotomy. All subjects were airway symptom free at last follow-up (average, 35 months; range, 13-76 months).ConclusionsAirway hemangiomas can be a life-threatening complication of PHACE syndrome. At our institution, 52% of all PHACE subjects were diagnosed with airway hemangiomas. Early detection of airway involvement is paramount. Given the high rates of airway hemangiomas, we recommend performing direct laryngoscopy and bronchoscopy in all PHACE patients with respiratory symptoms. We recommend having a low threshold for airway evaluation in asymptomatic PHACE patients, especially those who will not be otherwise started on propranolol
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Sleep-disordered breathing in pediatric head and neck vascular malformations.
ObjectivesTo determine the prevalence of sleep-disordered breathing (SDB) symptoms among children with head and neck vascular malformations and to compare obstructive sleep apnea (OSA)-18 scores between children with head and neck vascular malformations and children with non-head and neck vascular malformations.Study designRetrospective cohort and prospective cross-sectional studies METHODS: Forty-three pediatric subjects with head and neck vascular malformations evaluated at a tertiary-care multidisciplinary vascular anomalies center were included in a retrospective cohort study. Eighty-three consecutive pediatric subjects with vascular malformations evaluated at the same center were included in the prospective cross-sectional study.ResultsIn the retrospective cohort study, 20 (47%) subjects with head and neck malformations had documented SDB symptoms. Of those with SDB symptoms, five (25%) required long-term tracheotomy. The children with SDB symptoms had greater vascular malformation size, more extensive pharyngeal involvement, greater vascular malformation mass effect on airway, and closer proximity of malformation to airway when compared to children without SDB symptoms. For the prospective cross-sectional study, 23% of pediatric subjects had malformations of the head and neck. Those with head and neck malformations had a higher OSA-18 score and a lower overall quality of life (QOL) score when compared to subjects with non-head and neck malformations.ConclusionNearly half of children with head and neck vascular malformations have SDB symptoms. Children with head and neck vascular malformations have a higher OSA-18 score and lower overall QOL score when compared to children with non-head and neck vascular malformations.Level of evidence4. Laryngoscope, 127:2159-2164, 2017