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1.
Clin Otolaryngol ; 40(3): 227-33, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25409938

ABSTRACT

OBJECTIVE: Determine which risk factors in children with recurrent croup warrant bronchoscopic evaluation. DESIGN: Retrospective cohort study. SETTING: Tertiary paediatric hospital. PARTICIPANTS: Children with recurrent croup who underwent a rigid bronchoscopy between 2001 and 2013. MAIN OUTCOME MEASURES: Bronchoscopy findings, classified as normal, mildly abnormal or significantly abnormal. RESULTS: Two hundred and thirty-five children underwent a rigid bronchoscopy and 110 underwent a flexible oesophagoscopy. One hundred and forty-five children (61.7%) had a mildly abnormal exam, and 27 children (11.5%) had significant findings that required a surgical intervention or grade 2 or greater subglottic stenosis. The significantly abnormal group included 4 children with laryngomalacia, 2 with a subglottic cyst, 8 with grade 2 or 3 subglottic stenosis and 13 children who underwent a surgical procedure for subglottic stenosis. Sixty-seven children had a preoperative diagnosis of asthma, 62 were atopic and 78 had symptoms of gastro-oesophageal reflux. Oesophagoscopy was diagnostic of gastro-oesophageal reflux in 19 of 110 cases, and 106 children (45.1%) had bronchoscopic findings suggestive of GERD. Eight children had eosinophilic oesophagitis. After multivariate analysis, significantly abnormal bronchoscopy was significantly associated with chronic cough (P = 0.02), have a previous intubation (P = 0.002) or be younger than 3 years old (P = 0.01). CONCLUSION: Significant findings on bronchoscopy that warranted further surgical intervention were uncommon in this cohort. Nearly half of the patients had evidence of gastro-oesophageal reflux. In patients without risk factors for significant abnormalities, empiric medical management may be beneficial prior to endoscopy.


Subject(s)
Airway Management/methods , Airway Obstruction/diagnosis , Asthma/diagnosis , Bronchoscopy/methods , Esophagoscopy/methods , Gastroesophageal Reflux/diagnosis , Laryngoscopy/methods , Adolescent , Airway Obstruction/etiology , Asthma/complications , Child , Child, Preschool , Female , Follow-Up Studies , Gastroesophageal Reflux/complications , Humans , Infant , Infant, Newborn , Intraoperative Care , Male , Recurrence , Retrospective Studies
2.
Osteoporos Int ; 25(2): 627-37, 2014 Feb.
Article in English | MEDLINE | ID: mdl-23948876

ABSTRACT

UNLABELLED: Incident vertebral fractures and lumbar spine bone mineral density (BMD) were assessed in the 12 months following glucocorticoid initiation in 65 children with nephrotic syndrome. The incidence of vertebral fractures was low at 12 months (6 %) and most patients demonstrated recovery in BMD Z-scores by this time point. INTRODUCTION: Vertebral fracture (VF) incidence following glucocorticoid (GC) initiation has not been previously reported in pediatric nephrotic syndrome. METHODS: VF was assessed on radiographs (Genant method); lumbar spine bone mineral density (LS BMD) was evaluated by dual-energy X-ray absorptiometry. RESULTS: Sixty-five children were followed to 12 months post-GC initiation (median age, 5.4 years; range, 2.3-17.9). Three of 54 children with radiographs (6 %; 95 % confidence interval (CI), 2-15 %) had incident VF at 1 year. The mean LS BMD Z-score was below the healthy average at baseline (mean ± standard deviation (SD), -0.5 ± 1.1; p = 0.001) and at 3 months (-0.6 ± 1.1; p < 0.001), but not at 6 months (-0.3 ± 1.3; p = 0.066) or 12 months (-0.3 ± 1.2; p = 0.066). Mixed effect modeling showed a significant increase in LS BMD Z-scores between 3 and 12 months (0.22 SD; 95 % CI, 0.08 to 0.36; p = 0.003). A subgroup (N = 16; 25 %) had LS BMD Z-scores that were ≤-1.0 at 12 months. In these children, each additional 1,000 mg/m(2) of GC received in the first 3 months was associated with a decrease in LS BMD Z-score by 0.39 at 12 months (95 % CI, -0.71 to -0.07; p = 0.017). CONCLUSIONS: The incidence of VF at 1 year was low and LS BMD Z-scores improved by 12 months in the majority. Twenty-five percent of children had LS BMD Z-scores ≤-1.0 at 12 months. In these children, LS BMD Z-scores were inversely associated with early GC exposure, despite similar GC exposure compared to the rest of the cohort.


Subject(s)
Glucocorticoids/adverse effects , Nephrotic Syndrome/drug therapy , Osteoporotic Fractures/chemically induced , Spinal Fractures/chemically induced , Adolescent , Anthropometry/methods , Bone Density/drug effects , Child , Child, Preschool , Dose-Response Relationship, Drug , Female , Follow-Up Studies , Glucocorticoids/administration & dosage , Glucocorticoids/therapeutic use , Humans , Infant , Lumbar Vertebrae/physiopathology , Male , Nephrotic Syndrome/physiopathology , Osteoporosis/chemically induced , Osteoporotic Fractures/physiopathology , Spinal Fractures/physiopathology
3.
J Oral Maxillofac Surg ; 72(7): 1326.e1-18, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24768420

ABSTRACT

PURPOSE: To characterize intraosseous vascular malformations and describe the most appropriate approach for treatment according to clinical experience and a review of the published data. MATERIALS AND METHODS: We performed a retrospective review of 11 vascular malformations (7 venous and 4 arteriovenous) of the facial bones treated during a 10-year period using en bloc resection or intraoral aggressive curettage alone or preceded by endovascular embolization. Corrective surgery was planned to address any residual bone deformities. The cases were reviewed at a mean follow-up point of 6 years. RESULTS: Facial symmetry was restored in the cases requiring reconstruction. Tooth sparing was possible in the case of jaw and/or maxillary localization. Recanalization occurred in 14% of the venous and 33% of the arteriovenous malformations. CONCLUSIONS: Facial intraosseous venous malformations can be successfully treated using surgery alone. Facial intraosseous arteriovenous malformations will be better addressed using combined approaches. Aggressive curettage will obviate the need for extensive surgical resection in selected cases.


Subject(s)
Arteriovenous Malformations/surgery , Facial Bones/blood supply , Vascular Surgical Procedures , Veins/abnormalities , Child , Female , Humans , Male , Middle Aged , Retrospective Studies , Veins/surgery
4.
Laryngoscope ; 2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39239829

ABSTRACT

OBJECTIVE: Fetal imaging often identifies signs of upper airway obstruction due to micrognathia that may require airway intervention at delivery. This study investigated the role of quantitative fetal imaging measurements in predicting the need for otolaryngology consultation and intervention within a multidisciplinary Fetal Center. METHODS: Data were retrospectively collected from expectant mothers attending a multidisciplinary Fetal Center from January 2017 to October 2023. Cases of fetal micrognathia associated with potential upper airway obstruction were analyzed, focusing on prenatal ultrasound and magnetic resonance imaging (MRI) findings, genetic testing results, and interventions at birth. RESULTS: Among 25 pregnancies identified, diverse prenatal diagnoses were observed. Post hoc quantitative fetal ultrasound/MRI measurements included inferior facial angle, anteroposterior diameter, biparietal distance, and Jaw Index. Otolaryngology teams were present at delivery for a subset of cases, with various interventions performed, including tracheostomy and intubation. Lower gestational age at birth, rather than more severe quantitative measurements, was associated with the need for intervention. Intubation failure due to airway difficulty was also predicted by lower gestational age. CONCLUSION: While certain quantitative fetal imaging measurements are often used for clinical decision-making regarding airway management at birth, they did not clearly predict the need for airway intervention in our sample. Gestational age is an important consideration in decision-making for fetal teams and should be considered in preterm fetuses to plan for airway difficulties. The findings highlight the complexity of fetal micrognathia management and highlight the need for further research to refine predictive models and optimize clinical decision-making in this challenging clinical scenario. LEVEL OF EVIDENCE: Level 3 Laryngoscope, 2024.

5.
Int J Pediatr Otorhinolaryngol ; 164: 111411, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36565549

ABSTRACT

OBJECTIVE: To compare TI-RADS vs ATA guidelines for pediatric thyroid lesions based on ultrasound, in a retrospective study over 10 years. The primary outcome measure was sensitivity of both guidelines in diagnosing a thyroid malignancy on Fine Needle Aspiration (FNA) results. METHODS: Retrospective data collection of all pediatric patients who had an FNA at the Primary Children's Hospital for thyroid lesions. Both guidelines were compared to determine which set of guidelines is most sensitive based on final outcome of pathology. RESULTS: Seventy-seven patients were included in the study. All 77 underwent FNA as recommended by the ATA guidelines. 54.5% were benign, 22.1% were suspicious, and 23.4% were malignant lesions. Following the TI-RADS guidelines, 40.5% of these patients could have skipped the FNA. Using the ATA guidelines, all malignant lesions would have undergone FNA. However, using the TI-RADS guidelines, some patients with malignant lesions would have been ignored (5.6%) and some followed (22.2%) showing overall less sensitivity (75%). CONCLUSIONS: The ATA ultrasound guidelines for evaluation of thyroid nodules in children are more sensitive in screening for well-differentiated thyroid malignancy. Increased sensitivity is due in part to the size constraint within the TIRADS system. All providers who evaluate thyroid nodules in children should use the ATA pediatric guidelines to avoid missing smaller malignancies in children.


Subject(s)
Thyroid Neoplasms , Thyroid Nodule , Humans , Child , Thyroid Nodule/diagnostic imaging , Thyroid Nodule/pathology , Retrospective Studies , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/pathology , Ultrasonography/methods
6.
Int J Pediatr Otorhinolaryngol ; 164: 111372, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36402000

ABSTRACT

BACKGROUND: Anterior brainstem compression from odontoid pathology can occur in patients with craniocervical disorders. Occasionally, odontoid resection is required. In adults, odontoid resection has evolved toward transnasal-only endoscopic techniques. Pediatric patients, however, pose special challenges due to abnormal anatomy and smaller working spaces. A combined transnasal/transoral endoscopic odontoid resection (TN/TO EOR) can overcome this limitation. We present a case series with emphasis on otolaryngologic considerations to airway management, endoscopic approach, and management of complications. METHODS: A single center, retrospective review of patients aged ≤18 undergoing combined transnasal/transoral endoscopic odontoid resection between 2011 and 2022 is presented. Clinical and surgical variables consisting of diagnosis, intubation approach, other airway procedures performed, symptoms, complications, blood loss, and time to extubation, return to oral feeding, and discharge were recorded. RESULTS: 19 patients aged 10.7 ± 4.3 (range: 3-18) were included. Diagnoses included congenital syndrome (n = 6), complex Chiari malformation (n = 11), and congenital syndrome with Chiari (n = 2). Patients commonly required indirect videolaryngoscopy for intubation, with or without fiberoptic endoscopic assistance. Seven underwent adenoidectomy, two underwent adenotonsillectomy, and one required adenoidectomy with midline palatal split and inferior turbinate outfracture. Four patients had undergone prior adenotonsillectomy. Presenting symptoms included extremity weakness (n = 9), dysphagia (n = 8), velopharyngeal insufficiency (n = 4), sleep disturbance (n = 5), and headaches (n = 8). Four patients had complications, including one re-operation for residual odontoid, one flap dehiscence, one cerebrospinal fluid (CSF) leak repaired primarily, and one complicated course including temporary spinal cord injury. Blood loss was 50 ± 43 cc (median 30). Time to extubation was 1.1 ± 2.1 days (median 0; one patient underwent tracheotomy for respiratory failure), time to oral intake was 2.9 ± 3.7 days (median 1), and time to discharge was 7.1 ± 7.5 days (median 4). CONCLUSIONS: A combined transnasal/transoral approach can be successfully used in pediatric patients to overcome difficult endoscopic access. Although complications exist, early extubation and return to oral intake occurs in the vast majority of cases. For pediatric TN/TO EOR, the otolaryngologist plays a key role in preoperative assessment, airway management, endoscopic exposure, and complication management.


Subject(s)
Odontoid Process , Adult , Humans , Child , Odontoid Process/surgery , Endoscopy/adverse effects , Endoscopy/methods , Airway Extubation , Tracheostomy , Reoperation , Decompression, Surgical , Treatment Outcome
7.
Am J Med Genet A ; 158A(6): 1363-7, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22544659

ABSTRACT

PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high-resolution oligo-comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5 kb deletion approximately 80 kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors.


Subject(s)
Aldehyde Reductase/genetics , Aortic Coarctation/genetics , Chromosome Deletion , Chromosomes, Human, Pair 7 , Eye Abnormalities/genetics , Neurocutaneous Syndromes/genetics , Nucleotide Transport Proteins/genetics , Aortic Coarctation/diagnosis , DNA Copy Number Variations , Eye Abnormalities/diagnosis , Genetic Loci , Humans , Neurocutaneous Syndromes/diagnosis
8.
J Neurosurg Pediatr ; : 1-8, 2021 Jun 04.
Article in English | MEDLINE | ID: mdl-34087788

ABSTRACT

OBJECTIVE: Odontogenic ventral brainstem compression can be a source of significant morbidity in patients with craniocervical disease. The most common methods for odontoidectomy are the transoral and endoscopic endonasal routes. In this study, the authors investigated the use of an institutional protocol for endoscopic transnasal/transoral odontoidectomy in the pediatric population. METHODS: From 2007 to 2017, a multidisciplinary institutional protocol was developed and refined for the evaluation and treatment of pediatric patients requiring odontoidectomy. Preoperative assessment included airway evaluation, a sleep study (if indicated), discussion of possible tonsillectomy/adenoidectomy, and thorough imaging review by the neurosurgery and otolaryngology teams. Further preoperative anesthesia consultation was obtained for difficult airways. Intraoperatively, adenoidectomy was performed at the discretion of otolaryngology. The odontoidectomy was performed as a combined procedure. Primary posterior pharyngeal closure was performed by the otolaryngologist. The postoperative protocol called for immediate extubation, advancement to a soft diet at 24 hours, and no postoperative antibiotics. Outcome variables included time to extubation, operative time, estimated blood loss, hospital length of stay, and postoperative complications. RESULTS: A total of 13 patients underwent combined endoscopic transoral/transnasal odontoid resection with at least 3 years of follow-up. All patients had stable to improved neurological function in the postoperative setting. All patients were extubated immediately after the procedure. The average operative length was 201 ± 46 minutes, and the average estimated blood loss was 44.6 ± 40.0 ml. Nine of 13 patients underwent simultaneous tonsillectomy and adenoidectomy. The average hospital length of stay was 6.6 ± 5 days. The first patient in the series required revision surgery for removal of a small residual odontoid. One patient experienced pharyngeal flap dehiscence requiring revision. CONCLUSIONS: A protocolized, institutional approach for endoscopic transoral/transnasal odontoidectomy is described. The use of a combined, multidisciplinary approach leads to streamlined patient management and favorable outcomes in this complex patient population.

9.
Otolaryngol Head Neck Surg ; 164(6): 1186-1192, 2021 06.
Article in English | MEDLINE | ID: mdl-33079009

ABSTRACT

OBJECTIVE: To analyze patients' return to normal activity, pain scores, narcotic use, and adverse events after undergoing tonsillectomy or adenotonsillectomy with monopolar electrocautery or radiofrequency ablation. STUDY DESIGN: Randomized double-blinded clinical trial based on prospective parallel design. SETTING: Academic medical center and tertiary children's hospital between March 2018 and July 2019. METHODS: Inclusion criteria included patients aged ≥3 years with surgical indication of recurrent tonsillitis or airway obstruction/sleep-disordered breathing. Patients were randomly assigned to monopolar electrocautery or radiofrequency ablation. Patients were blinded to treatment assignment. Survey questions answered via text or email were collected daily until postoperative day 15. The primary outcome was the patient's return to normal activity. Secondary outcomes included daily pain score, total amount of postoperative narcotic use, and adverse events. RESULTS: Of the 236 patients who met inclusion criteria and were randomly assigned to radiofrequency ablation or monopolar electrocautery, 230 completed the study (radiofrequency ablation, n = 112; monopolar electrocautery, n = 118). There was no statistically significant difference between the groups in the number of days for return to normal activity (P = .89), daily pain scores over 15 postoperative days (P = .46), postoperative narcotic use (P = .61), or return to hospital for any reason (P = .60), including bleeding as an adverse event (P = .13). CONCLUSIONS: As one of the largest randomized controlled trials examining instrumentation in tonsillectomy, our data do not show a difference between monopolar electrocautery and radiofrequency ablation with regard to return to normal activity, daily pain scores, total postoperative narcotic use, or adverse events.


Subject(s)
Adenoidectomy/methods , Electrocoagulation , Radiofrequency Ablation , Tonsillectomy/methods , Adolescent , Child , Child, Preschool , Double-Blind Method , Female , Humans , Male , Prospective Studies , Treatment Outcome
10.
Dev Cell ; 7(3): 439-53, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15363417

ABSTRACT

The Hmx homeobox gene family appears to play a conserved role in CNS development in all animal species examined, and in higher vertebrates has an additional role in sensory organ development. Here, we show that murine Hmx2 and Hmx3 have both overlapping and distinct functions in the development of the inner ear's vestibular system, whereas their functions in the hypothalamic/pituitary axis of the CNS appear to be interchangeable. As in analogous knockin studies of Otx and En function, Drosophila Hmx can rescue conserved functions in the murine CNS. However, in contrast to Otx and En, Drosophila Hmx also rescues significant vertebrate-specific functions outside the CNS. Our work suggests that the evolution of the vertebrate inner ear may have involved (1) the redeployment of ancient Hmx activities to regulate the cell proliferation of structural components and (2) the acquisition of additional, vertebrate-specific Hmx activities to regulate the sensory epithelia.


Subject(s)
Drosophila Proteins/physiology , Ear, Inner/embryology , Gene Expression Regulation, Developmental , Homeodomain Proteins/physiology , Hypothalamus/embryology , Nerve Tissue Proteins/physiology , Transcription Factors/physiology , Animals , Apoptosis , Body Weight , Central Nervous System/embryology , Drosophila , Embryo, Mammalian/cytology , Embryo, Nonmammalian , Epithelium/embryology , Gene Expression Regulation , Genes, Homeobox , Genetic Vectors , Genotype , Mice , Mice, Inbred C57BL , Mice, Transgenic , Models, Biological , Models, Genetic , Mutation , Stem Cells/cytology , Time Factors , Transfection
11.
Laryngoscope ; 118(2): 348-53, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18025949

ABSTRACT

OBJECTIVES/HYPOTHESIS: Children with cleft deformities have the tendency for multilevel airway obstruction. The incidence of sleep disordered breathing (SDB) in this population has not been well studied. This study attempts to describe the high incidence and the results of intervention. STUDY DESIGN: A three-year retrospective chart review by a tertiary cleft and craniofacial team. METHODS: The symptoms of sleep disordered breathing and polysomnographic data were reviewed and analyzed using descriptive statistics and multivariate analysis. RESULTS: Of the 539 children seen during the period, 120 (22%) had symptoms suggestive of SDB. Twenty-four of them had a tonsillectomy with or without partial adenoidectomy without polysomnogram (PSG). Sixty-nine (57%) had a PSG, and 28 (40%) had a follow-up PSG. Syndromic children had significantly more symptoms of SDB (P < .001) and were more likely to undergo PSG (P < .05). Of those children who underwent a PSG, only six had a normal obstructive apnea-hypopnea index (OAHI) with a mean (+/-standard deviation) respiratory disturbance index (RDI) of 15.5 (+/-17.5) and OAHI of 12.05 (+/-15.57). Post intervention PSG showed significant improvement in RDI (P = .048) and OAHI (P = .012) using a single-tailed Wilcoxan analysis. Unfortunately, most of these children still had significant sleep apnea. There was also a high percentage of children with periodic leg motion syndrome (24.7%), some of whom also had OSA. CONCLUSION: There is a high incidence of SDB and definable OSA in the cleft population. Though there is a statistically significant improvement after intervention, some were not cured. Sleep disturbance and OSA is likely under-reported and treated in the cleft population. PSG should be done more frequently, and post intervention PSG should be strongly considered.


Subject(s)
Cleft Palate/epidemiology , Sleep Apnea Syndromes/epidemiology , Sleep Apnea, Obstructive/epidemiology , Adenoidectomy/statistics & numerical data , Adolescent , Child , Child, Preschool , Enuresis/epidemiology , Female , Humans , Infant, Newborn , Male , Polysomnography , Prevalence , Retrospective Studies , Sleep Apnea Syndromes/diagnosis , Sleep Apnea, Obstructive/diagnosis , Snoring/epidemiology , Tonsillectomy/statistics & numerical data , Wakefulness
12.
Laryngoscope ; 128(2): 490-495, 2018 02.
Article in English | MEDLINE | ID: mdl-28815616

ABSTRACT

OBJECTIVES: To evaluate outcomes of foreign body aspiration (FBA) and to investigate surgeon and hospital volume as risk factors for a complicated course. STUDY DESIGN: Retrospective case series. METHODS: Children with FBA in a multihospital network were identified from January 2005 to September 2015. Demographic information, surgeon, and hospital location were reviewed. Mean operative time and hospital length of stay were recorded. Cases requiring intensive care unit admission, hospital stay greater than 24 hours, need for more than one bronchoscopy, operative time greater than 1 hour, or death were considered "complicated." RESULTS: A total of 450 cases of airway foreign body extraction were performed. Patient ages ranged from 0.6 to 18.8 years, with a median age of 1.9 years. Bronchoscopy with foreign body extraction was performed by 55 different surgeons at 11 different facilities. There were one to 24 surgeons for each facility, with an average number of 5.4 surgeons per facility. A total of 88 (19.6%) cases were considered complicated, including five (1.1%) deaths. Increased rates of complications were seen with unwitnessed aspiration (P = 0.008) and hyperlucency (P < 0.001) or infiltrates (P = 0.001) on chest radiographs. No significant association was found between surgeon type or facility as related to a complicated case. CONCLUSIONS: Unwitnessed aspiration events and abnormalities on chest radiograph may be associated with a more complicated course in children with FBA. This multihospital study identified a low number of procedures by many surgeons; however, surgeon and hospital volume did not significantly correlate with higher complication rates. LEVEL OF EVIDENCE: 4. Laryngoscope, 128:490-495, 2018.


Subject(s)
Airway Obstruction/surgery , Bronchoscopy/adverse effects , Foreign Bodies/surgery , Postoperative Complications/etiology , Respiratory System/injuries , Surgeons/statistics & numerical data , Adolescent , Airway Obstruction/diagnostic imaging , Airway Obstruction/etiology , Bronchoscopy/methods , Child , Child, Preschool , Female , Foreign Bodies/complications , Foreign Bodies/diagnostic imaging , Hospitals, High-Volume/statistics & numerical data , Humans , Infant , Male , Postoperative Complications/epidemiology , Radiography , Respiratory System/diagnostic imaging , Respiratory System/surgery , Retrospective Studies , Risk Factors
13.
Otolaryngol Head Neck Surg ; 159(1): 35-41, 2018 07.
Article in English | MEDLINE | ID: mdl-29512419

ABSTRACT

Objective To (1) compare physiologic changes during rigid bronchoscopy during spontaneous and mechanical ventilation and (2) evaluate the efficacy of a helium-oxygen (heliox) gas mixture as compared with room air during rigid bronchoscopy. Study Design Crossover animal study evaluating physiologic parameters during rigid bronchoscopy. Outcomes were compared with predicted computational fluid analysis. Setting Simulated ventilation via computational fluid dynamics analysis and term lambs undergoing rigid bronchoscopy. Methods Respiratory and physiologic outcomes were analyzed in a lamb model simulating bronchoscopy during foreign body aspiration to compare heliox with room air. The main outcome measures were blood oxygen saturation, heart rate, blood pressure, partial pressure of oxygen, and partial pressure of carbon dioxide. Computational fluid dynamics analysis was performed with SOLIDWORKS within a rigid pediatric bronchoscope during simulated ventilation comparing heliox with room air. Results For room air, lambs desaturated within 3 minutes during mechanical ventilation versus normal oxygen saturation during spontaneous ventilation ( P = .01). No improvement in respiratory outcomes was seen between heliox and room air during mechanical ventilation. Computational fluid dynamics analysis demonstrates increased turbulence within size 3.5 bronchoscopes when comparing heliox and room air. Meaningful comparisons could not be made due to the intolerance of the lambs to heliox in vivo. Conclusion During mechanical ventilation on room air, lambs desaturate more quickly during rigid bronchoscopy on settings that should be adequate. Heliox does not improve ventilation during rigid bronchoscopy.


Subject(s)
Bronchoscopy , Helium/pharmacology , Oxygen/pharmacology , Respiration, Artificial , Respiration/drug effects , Animals , Animals, Newborn , Bronchi , Computer-Aided Design , Cross-Over Studies , Female , Foreign Bodies/surgery , Male , Sheep
14.
Eur J Hum Genet ; 26(10): 1521-1536, 2018 10.
Article in English | MEDLINE | ID: mdl-29891884

ABSTRACT

RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. The number of cases reported is relatively small; and while the main clinical features are CMs and AVMs/AVFs, the broader phenotypic spectrum caused by variants in the RASA1 gene is still being defined. Here, we report the clinical and molecular findings in 69 unrelated cases with a RASA1 variant identified at ARUP Laboratories. Sanger sequencing and multiplex ligation-dependent probe amplification were primarily used to evaluate RASA1. Several atypical cases were evaluated using next-generation sequencing (NGS) and array-comparative genomic hybridization (aCGH). Sixty individuals had a deleterious RASA1 variant of which 29 were novel. Nine individuals had a variant of uncertain significance. Five large RASA1 deletions were detected, giving an overall deletion/duplication rate of 8.3% (5/60) among positive cases. Most (75.4%) individuals with a RASA1 variant had CMs, and 44.9% had an AVM/AVF. Clinical findings in several cases expand the RASA1 phenotype. Our data suggest that screening for large RASA1 deletions and duplications in this disorder is important and suggest that NGS multi-gene panel testing is beneficial for the molecular diagnosis of cases with complex vascular phenotypes.


Subject(s)
Arteriovenous Malformations/genetics , Capillaries/abnormalities , Genetic Predisposition to Disease , High-Throughput Nucleotide Sequencing , Port-Wine Stain/genetics , p120 GTPase Activating Protein/genetics , Adolescent , Adult , Aged , Arteriovenous Malformations/physiopathology , Capillaries/physiopathology , Child , Child, Preschool , Comparative Genomic Hybridization , Female , Humans , Infant , Male , Middle Aged , Mutation , Phenotype , Port-Wine Stain/physiopathology , Young Adult
15.
Laryngoscope ; 117(2): 231-7, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17277615

ABSTRACT

OBJECTIVE/HYPOTHESIS: Laser eustachian tuboplasty (LETP) combined with appropriate medical management will eliminate the chronic presence of middle ear effusions in selected patients. METHODS: The study population consisted of 13 adults with otitis media with effusion (OME). Patients underwent slow-motion video endoscopy to identify the location and extent of surgical resection. A diode or argon laser was used to vaporize areas of hypertrophic mucosa and submucosa along the cartilaginous eustachian tube. Patients were evaluated at 6, 12, and 24 months. Successful outcome was defined as absence of OME. Patients with evidence of reflux disease or allergic rhinitis were treated with medical therapy before surgery and throughout the follow-up period as indicated. RESULTS: LETP combined with medical management eliminated OME in 36% (4 of 11) of patients at 6 months, 40% (4 of 10) at 1 year, and 38% (3 of 8) at 2 years. Failure of LETP correlated with presence of laryngopharyngeal reflux (P = .01) or allergic disease (P = .05) for the results at 1 year but not at 2 years. CONCLUSIONS: LETP combined with appropriate medical management may be an effective treatment in select patients with chronic persistent eustachian tube dysfunction. A controlled trial with a larger number of subjects will be necessary to determine the efficacy of LETP and identify those factors predictive of successful outcome.


Subject(s)
Eustachian Tube/surgery , Laser Therapy , Otitis Media with Effusion/surgery , Adult , Anti-Ulcer Agents/therapeutic use , Eustachian Tube/pathology , Female , Follow-Up Studies , Gastroesophageal Reflux/drug therapy , Hearing/physiology , Humans , Hypertrophy , Male , Middle Aged , Mucous Membrane/surgery , Omeprazole/therapeutic use , Otitis Media with Effusion/drug therapy , Prospective Studies , Proton Pump Inhibitors , Respiratory Hypersensitivity/drug therapy , Rhinitis/drug therapy , Treatment Outcome , Video-Assisted Surgery
16.
Int J Pediatr Otorhinolaryngol ; 71(2): 275-82, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17113162

ABSTRACT

OBJECTIVE: The objective of this study is to describe the vestibular symptoms in pediatric patients with enlarged vestibular aqueduct (EVA) anomaly. METHODS: Retrospective chart review of pediatric and adult patients with EVA anomaly who were treated at the University of Utah Hospital or Primary Children's Medical Center, between 1995 and 2005. Radiographs were reviewed to confirm the diagnosis. Comparisons were made between adult and pediatric patients. RESULTS: Thirty-two patients were included in the study, 17 females and 15 males. Twenty-one patients were under the age of 18 and 11 patients were age 18 or older. On initial audiometric evaluation at a tertiary hospital, the pure tone average in the right ear was 75.0 dB and the pure tone average in the left ear was 80.4 dB. The incidence of vestibular symptoms in adult patients was 45.5% and in pediatric patients was 48.0%. Fourteen patients underwent cochlear implantation. Four patients (28.6%) who previously denied vestibular symptoms experienced post-operative vertigo after cochlear implantation. CONCLUSIONS: About half of the patients with EVA in our series experienced vestibular symptoms. Pediatric patients in our series experienced vertigo and vestibular symptoms with equal frequency when compared to adult patients. Some patients with EVA undergoing cochlear implantation experienced vestibular symptoms in the post-operative period.


Subject(s)
Vestibular Aqueduct/abnormalities , Vestibular Aqueduct/diagnostic imaging , Vestibular Diseases/diagnosis , Adolescent , Adult , Child , Child, Preschool , Female , Hearing Loss, Sensorineural/etiology , Humans , Infant , Magnetic Resonance Imaging , Male , Middle Aged , Retrospective Studies , Tomography, X-Ray Computed , Vestibular Diseases/etiology
17.
Int J Pediatr Otorhinolaryngol ; 103: 55-57, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29224766

ABSTRACT

PHACE syndrome is the association of large or segmental infantile hemangiomas of the face or scalp with abnormalities within the posterior fossa, arteries, cardiovascular system, and eyes. We present a case of reversible profound sensorineural hearing loss due to a cerebellopontine angle infantile hemangioma that was successfully treated with propranolol.


Subject(s)
Adrenergic beta-Antagonists/therapeutic use , Aortic Coarctation/complications , Eye Abnormalities/complications , Hearing Loss, Sensorineural/etiology , Hemangioma/complications , Neurocutaneous Syndromes/complications , Propranolol/therapeutic use , Hemangioma/drug therapy , Humans , Infant , Magnetic Resonance Imaging , Male
18.
Arch Otolaryngol Head Neck Surg ; 132(11): 1251-6, 2006 Nov.
Article in English | MEDLINE | ID: mdl-17116823

ABSTRACT

OBJECTIVE: To determine the efficacy and safety of radiofrequency (RF) ablation of vesicles and the resulting symptomatic control of microcystic lymphatic malformation (LM) in the oral cavity. DESIGN: An institutional review board-approved retrospective study with follow-up telephone interview. SETTING: Tertiary pediatric medical center. Patients Eleven children (6 girls and 5 boys), aged 4 to 16 years, presenting between August 1, 2002, and December 1, 2004. Intervention Radiofrequency ablation of LM in the oral cavity. MAIN OUTCOME MEASURES: Symptoms related to LM, postoperative oral intake, and postoperative antibiotic requirements. RESULTS: Eleven patients presented with microcystic LM involving the lips, tongue, floor of the mouth, or buccal mucosa. Complaints included bleeding, infection, swelling, vesicle formation, and malocclusion. Patients underwent RF ablation (coblation) of oral cavity lesions. Seven (64%) of the 11 patients were able to tolerate oral intake in the recovery room. The need for antibiotics was reduced after RF ablation. All patients related diminished bleeding, pain, infection, or vesicle formation, with more than half reporting a significant improvement (6 patients) or complete resolution (1 patient). Five (62%) of 8 parents stated that the improvement after RF ablation was superior to that following previous procedures. CONCLUSIONS: Subtotal RF ablation of LM appears to be safe, with early postoperative oral intake and minimal postoperative pain. Further studies are needed to determine long-term control of LM.


Subject(s)
Catheter Ablation , Lymphatic System/abnormalities , Lymphatic System/surgery , Mouth , Adolescent , Child , Child, Preschool , Female , Humans , Interviews as Topic , Lip , Lymphatic System/pathology , Male , Mouth Floor , Mouth Mucosa , Pain, Postoperative , Retrospective Studies , Tongue , Treatment Outcome
19.
Arch Otolaryngol Head Neck Surg ; 132(4): 375-80, 2006 Apr.
Article in English | MEDLINE | ID: mdl-16618905

ABSTRACT

OBJECTIVE: To determine the presentation, pathologic features, treatment outcome, and prognosis of mucoepidermoid carcinoma of the parotid gland in children. DESIGN: Retrospective clinical and histopathologic study with institutional review board approval. SETTING: Tertiary pediatric medical center. PATIENTS: Seven children (4 girls and 3 boys) presented with mucoepidermoid carcinoma of the parotid gland between 1994 and 2004. MAIN OUTCOME MEASURES: Clinical presentation, pathologic features, treatment outcome, complications, local recurrence, distant metastasis, and overall survival. RESULTS: All patients presented with an asymptomatic parotid mass. Initial treatment in 7 patients included total parotidectomy (n = 3), superficial parotidectomy (n = 3), transoral enucleation (n = 1), and supraomohyoid neck dissection (n = 1). Four patients required additional surgical procedures because of a close and/or positive margin, including revision parotidectomy (n = 2), total parotidectomy (n = 1), superficial parotidectomy (n = 1), and supraomohyoid neck dissection (n = 1). One patient required postoperative radiation therapy. No evidence of local recurrence or distant metastasis was noted with a mean follow-up of 3.4 years. CONCLUSIONS: Mucoepidermoid carcinoma of the parotid gland is very rare in children. Clinical stage and histologic grade are the main prognostic factors. Complete excision (superficial or total parotidectomy) with preservation of facial nerve is the treatment of choice. Neck dissection should be considered when there is clinical evidence of regional metastasis, high TNM stage, high histologic grade, and involvement of regional nodes. Because of the possibility of long-term adverse effects in pediatric patients, radiotherapy should be used only in selected cases. Long-term follow-up is essential to rule out late recurrence.


Subject(s)
Carcinoma, Mucoepidermoid , Parotid Neoplasms , Adolescent , Boston/epidemiology , Carcinoma, Mucoepidermoid/mortality , Carcinoma, Mucoepidermoid/pathology , Carcinoma, Mucoepidermoid/surgery , Child , Child, Preschool , Disease-Free Survival , Female , Humans , Male , Neoplasm Recurrence, Local , Parotid Neoplasms/mortality , Parotid Neoplasms/pathology , Parotid Neoplasms/surgery , Retrospective Studies , Survival Rate , Tomography, X-Ray Computed
20.
Laryngoscope ; 126(8): 1940-5, 2016 08.
Article in English | MEDLINE | ID: mdl-26422815

ABSTRACT

OBJECTIVES/HYPOTHESIS: Observed complications during rigid bronchoscopy, including hypercarbia and hypoxemia, prompted us to assess how well rigid bronchoscopes serve as an airway device. We performed computer-aided design flow analysis of pediatric rigid bronchoscopes to gain insight into flow dynamics. STUDY DESIGN: We made accurate three-dimensional computer models of pediatric rigid bronchoscopes and endotracheal tubes. SOLIDWORKS (Dassault Systemes, Vélizy-Villacoublay, France) flow analysis software was used to analyze fluid dynamics during pressure-controlled and volume-controlled ventilation. METHODS: Flow analysis was performed on rigid bronchoscopes and similar outer diameter endotracheal tubes comparing resistance, flow, and turbulence during two ventilation modalities and in common surgical scenarios. RESULTS: Increased turbulent flow was observed in bronchoscopes compared to more laminar flow in endotracheal tubes of similar outer diameter. Flow analysis displayed higher resistances in all pediatric bronchoscope sizes except one (3.0 bronchoscope) compared to similar-sized endotracheal tubes. Loss of adequate ventilation was observed if the bronchoscope was not assembled correctly or if increased peak inspiratory pressures were needed. Anesthesia flow to the patient was reduced by 63% during telescope insertion. CONCLUSIONS: Flow analysis illustrates increased turbulent flow and increased airflow resistance in all but one size of pediatric bronchoscopes compared to endotracheal tubes. This increased turbulence and resistance, along with the unanticipated gas distal exit pattern, may contribute to the documented hypercarbia and hypoxemia during procedures. These findings may explain why hypoxemia and hypercarbia are commonly observed during rigid bronchoscopy, especially when positive pressure ventilation is needed. LEVEL OF EVIDENCE: NA Laryngoscope, 126:1940-1945, 2016.


Subject(s)
Bronchoscopes , Computer-Aided Design , Intubation, Intratracheal/instrumentation , Respiration, Artificial , Software , Bronchoscopy , Equipment Design , Humans , Respiration, Artificial/methods
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