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Background: Patent ductus arteriosus stenting (PDAS) is a nonsurgical alternative to Blalock-Taussig-Thomas shunt (BTTS) for infants with ductal-dependent congenital heart disease. In this single-center study, we aimed to compare neurodevelopmental outcomes in children who underwent BTTS as initial palliation versus PDAS. Methods: Bayley Scales of Infant and Toddler Development Screening Test (Bayley-III) reports and mode of feeding data were collected for any patient who underwent PDAS or BTTS at Rady Children's Hospital from 2013 to 2021. We also prospectively administered the Parents' Evaluation of Development Status questionnaire (PEDS) to parents of children aged 2-8 years in this patient population. Results: Of the 99 patients, 64 received a Bayley-III assessment and/or PEDS screen. Of the 35 who had a Bayley-III, there was a higher proportion of patients with PDAS who scored as developmentally appropriate compared with BTTS. PEDS screen showed that a higher proportion of patients with PDAS had no parental concern for delay than that of patients with BTTS (63% vs 30%). Patients with BTTS were more likely to undergo gastrostomy tube placement than patients with PDAS. Conclusions: Our study suggests that neurodevelopmental measures are feasible, clinically relevant, and should be included in comparative effectiveness studies of infant congenital interventions. Whether PDAS offers neurodevelopmental benefit over BTTS should be confirmed in a prospective powered randomized controlled clinical trial.
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The authors report a case of circumflex aorta causing persistent respiratory distress in a 9-year-old boy who had previously undergone vascular ring division and multiple aortopexies. The uncrossing operation was performed, with symptomatic relief of both posterior and right-sided tracheal compression from the transverse aorta and right aortic arch, respectively.
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The work illustrates a step-by-step surgical approach to demonstrate technical feasibility of a single-stage endoscopic repair for bilateral choanal atresia with adjuvant bioabsorbable steroid-eluting stent placement to safely mitigate unique perioperative challenges in the pediatric population. Laryngoscope, 2024.
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OBJECTIVES: Aerodigestive disorders encompass various pathological conditions affecting the lungs, upper airway, and gastrointestinal tract in children. While advanced care has primarily occurred in specialty centers, many children first present to general pediatric gastroenterologists with aerodigestive symptoms necessitating awareness of these conditions. At the 2021 Annual North American Society for Pediatric Gastroenterology, Hepatology and Nutrition meeting, the aerodigestive Special Interest Group held a full-day symposium entitled, Pediatric Aerodigestive Medicine: Advancing Collaborative Care of Children with Aerodigestive Disorders. The symposium aimed to underline the significance of a multidisciplinary approach to achieve better outcomes for these complex patients. METHODS: The symposium brought together leading experts to highlight the growing aerodigestive field, promote new scientific and therapeutic strategies, share the structure and benefits of a multidisciplinary approach in diagnosing common and rare aerodigestive disorders, and foster multidisciplinary discussion of complex cases while highlighting the range of therapeutic and diagnostic options. In this article, we showcase the diagnostic and therapeutic approach to oropharyngeal dysphagia (OPD), one of the most common aerodigestive conditions, emphasizing the role of a collaborative model. CONCLUSIONS: The aerodigestive field has made significant progress and continues to grow due to a unique multidisciplinary, collaborative model of care for these conditions. Despite diagnostic and therapeutic challenges, the multidisciplinary approach has enabled and greatly improved efficient, high-quality, and evidence-based care for patients, including those with OPD.
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Deglutition Disorders , Gastroenterology , Medicine , Humans , Child , Deglutition Disorders/diagnosis , Deglutition Disorders/etiology , Deglutition Disorders/therapy , LungABSTRACT
OBJECTIVE: To develop a complexity scoring system to characterize the diverse population served in pediatric aerodigestive clinics and help predict their treatment outcomes. STUDY DESIGN: A 7-point medical complexity score was developed through an iterative group consensus of relative stakeholders to capture the spectrum of comorbidities among the aerodigestive population. One point was assigned for each comorbid diagnosis in the following categories: airway anomaly, neurologic, cardiac, respiratory, gastrointestinal, genetic diagnoses, and prematurity. A retrospective chart review was conducted of patients seen in the aerodigestive clinic who had ≥2 visits between 2017 and 2021. The predictive value of the complexity score for the selected outcome of feeding progression among children with dysphagia was analyzed with univariate and multivariable logistic regression. RESULTS: We analyzed 234 patients with complexity scores assigned, showing a normal distribution (Shapiro Wilk P = .406) of the scores 1-7 (median, 4; mean, 3.50 ± 1.47). In children with dysphagia, there was waning success in the improvement of oral feeding with increasing complexity scores (OR, 0.66; 95% CI, 0.51-0.84; P = .001). Tube-fed children with higher complexity scores were incrementally less likely to achieve full oral diet (OR, 0.60; 95% CI, 0.40-0.89; P = .01). On multivariable analysis, neurologic comorbidity (OR, 0.26; P < .001) and airway malformation (OR, 0.35; P = .01) were associated with a decreased likelihood to improve in oral feeding. CONCLUSIONS: We propose a novel complexity score for the pediatric aerodigestive population that is easy to use, successfully stratifies diverse presentations, and shows promise as a predictive tool to assist in counseling and resource use.
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Deglutition Disorders , Child , Humans , Deglutition Disorders/epidemiology , Deglutition Disorders/diagnosis , Retrospective Studies , Enteral Nutrition , Comorbidity , Ambulatory Care FacilitiesABSTRACT
OBJECTIVE: To provide guidance for the comprehensive management of children referred for anterior drooling. The mission of the International Pediatric Otolaryngology Group (IPOG) is to develop expertise-based recommendations for the management of pediatric otolaryngologic disorders with the goal of improving patient care. METHODS: Survey of expert opinion by the members of the International Pediatric Otolaryngology Group (IPOG). The recommendations are derived from current expert consensus and critical review of the literature. RESULTS: Consensus recommendations include initial care and approach recommendations for health care providers who commonly evaluate children with drooling. This includes evaluation and treatment considerations for commonly debated issues in drooling management, initial work-up of children referred for anterior drooling, treatment recommendations, indications and contra-indications for rehabilitation, medical, and surgical management, as well as pros and cons of different surgical procedures in the hands of drooling management experts. CONCLUSION: Anterior drooling consensus recommendations are aimed at improving patient-centered care in children referred for sialorrhea.
Subject(s)
Botulinum Toxins, Type A , Otolaryngology , Sialorrhea , Child , Humans , Sialorrhea/surgery , ConsensusABSTRACT
OBJECTIVE: To assess dysphagia outcomes following surgical management of unilateral vocal fold immobility in children. DATA SOURCES: Ovid Medline, Embase, Web of Science, and CENTRAL databases. REVIEW METHODS: A systematic review of the medical literature was performed following the PRISMA guidelines. An a priori protocol was defined to identify all articles that presented quantifiable outcome data in children aged <18 years who underwent surgical treatment to improve glottal competence for dysphagia. Two authors independently determined references meeting the inclusion criteria, extracted data, and assigned levels of evidence. Data were pooled via a random effects model where possible. The quality of studies was graded with the MINORS criteria. RESULTS: An overall 398 publications were screened, with 9 meeting inclusion criteria. A total of 115 patients were included. Of these, 75% had preoperative swallowing symptoms. Surgical intervention for dysphagia included 61 injection laryngoplasties, 11 medialization laryngoplasties, and 10 reinnervations (ansa cervicalis to recurrent laryngeal nerve). The articles consistently reported success in improving dysphagia symptoms, and limited meta-analysis demonstrated a mean improvement after surgical intervention in 79% (95% CI, 67%-91%) of children. The reported rate of minor and major complications was 15% (95% CI, 1%-29%). The MINORS scores ranged from 5 to 12. CONCLUSION: Surgical management of unilateral vocal fold immobility in properly selected children can be an effective treatment for dysphagia when symptoms are present. Selection of surgical modalities relies on patient- and surgeon-related factors, and the rate of success is high across different interventions in treating these complex children.
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Deglutition Disorders , Laryngoplasty , Vocal Cord Paralysis , Humans , Child , Vocal Cords , Deglutition Disorders/surgery , Deglutition Disorders/complications , Vocal Cord Paralysis/complications , Laryngoplasty/methods , Injections , Treatment OutcomeABSTRACT
OBJECTIVE: To assess the effect of local anesthetic injection on subjective pain scores for pediatric tonsillectomies on postoperative days (PODs) 0 and 1. DATA SOURCES: A comprehensive literature search was conducted with the PubMed, Embase, Web of Science, and Scopus databases. REVIEW METHODS: A 2-researcher team following the PRISMA guidelines performed a systematic review and meta-analysis. Studies with original data and a saline injection control arm were selected. Corresponding authors were contacted for missing data. The collated data were analyzed with RevMan version 5.4 (Review Manager; Cochrane Collaboration). Random effects modeling and standard mean difference were utilized to control for heterogeneity. Surgical technique subgroup analysis was performed. RESULTS: A total of 319 publications were identified, and 8 articles with 13 experimental arms (627 participants) were selected for meta-analysis. Local anesthetic injection was compared with placebo with saline injection. The standard mean difference for POD 0 pain was -0.81 (95% CI, -1.16 to -0.46; P < .00001) in favor of local anesthetic. The standard mean difference for POD 1 was -1.13 (95% CI, -1.48 to -0.78; P < .00001) in favor of local anesthetic. Subgroup analysis by surgical technique showed a less robust effect for cautery excision (-1.01 [95% CI, -1.37 to -0.66]) vs cold excisional technique (-1.19 [95% CI, -1.64 to -0.74]), with or without cautery-based hemostasis. CONCLUSIONS: A local anesthetic injection during a pediatric tonsillectomy reduces postoperative pain on POD 0 and 1. Further analysis on total narcotic use and postoperative complications would benefit surgeon decision making.
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Anesthetics, Local , Tonsillectomy , Child , Humans , Anesthetics, Local/therapeutic use , Anesthesia, Local , Pain, Postoperative/drug therapy , Pain, Postoperative/prevention & control , Pain Management/methodsABSTRACT
OBJECTIVE: To assess dysphagia outcomes following surgical management of unilateral vocal fold immobility (UVFI) in adults. DATA SOURCES: Ovid MEDLINE, Embase, Web of Science, and Cochrane Central. REVIEW METHODS: A structured literature search was utilized, and a 2-researcher systematic review was performed following PRISMA guidelines. Extractable data were pooled, and a quantitative analysis was performed with a random effects model to analyze treatment outcome and complications by procedure. RESULTS: A total of 416 publications were screened and 26 met inclusion criteria. Subjects encompassed 959 patients with UVFI who underwent 916 procedures (n = 547, injection laryngoplasty; n = 357, laryngeal framework surgery; n = 12, laryngeal reinnervation). An overall 615 were identified as having dysphagia as a result of UVFI and had individually extractable outcome data, which served as the basis for a quantitative meta-analysis. In general, dysphagia outcomes after all medialization procedures were strongly positive. Quantitative analysis demonstrated a success rate estimate of 90% (95% CI, 75%-100%) for injection laryngoplasty and 92% (95% CI, 87%-97%) for laryngeal framework surgery. The estimated complication rate was 7% (95% CI, 2%-13%) for injection laryngoplasty and 15% (95% CI, 10%-20%) for laryngeal framework surgery, with minor complications predominating. Although laryngeal reinnervation could not be assessed quantitatively due to low numbers, qualitative analysis demonstrated consistent benefit for a majority of patients for each procedure. CONCLUSION: Dysphagia due to UVFI can be improved in a majority of patients with surgical procedures intended to improve glottal competence, with a low risk of complications. Injection laryngoplasty and laryngeal framework surgery appear to be efficacious and safe, and laryngeal reinnervation may be a promising new option for select patients.
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Deglutition Disorders , Laryngoplasty , Larynx , Adult , Humans , Vocal Cords , Deglutition Disorders/etiology , Deglutition Disorders/surgery , GlottisABSTRACT
Background: Treatment of tracheobronchial disease in medically complex infants with congenital heart disease (CHD) is often challenging. When conservative management or surgery fails or is contraindicated, airway stenting can allow for advancement of care or weaning of respiratory support. Methods: We identified 8 cases of airway stenting with balloon-expandable coronary bare-metal stents performed at our institution between February 2019 and September 2022 to relieve conservative treatment-refractory tracheobronchial disease in pediatric patients with CHD. All patients underwent rigid microlaryngoscopy, bronchoscopy, and flexible bronchoscopy as well as computed tomography angiography. Results: Eight patients underwent technically uncomplicated placement of balloon-expandable coronary bare-metal stents in the trachea or bronchus. Immediate improvement in respiratory parameters was noted following stent placement. Six patients were able to wean mechanical ventilation following stent placement, with a median of 2.5 days of mechanical ventilation following the procedure (range, 0-219). All stents were subsequently endoscopically removed at a median of 6.8 months (range, 0.4-16.3 months). In 6 patients, bronchoscopy after stent removal demonstrated a rounder configuration of the airway consistent with bronchial remodeling. Conclusions: In pediatric patients with tracheobronchial and CHD, airway stenting with balloon-expandable bare-metal coronary stents relieved respiratory symptoms with minimal complications and resulted in bronchial remodeling after stent removal.
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Objective: Pediatric patients with severe obstructive sleep apnea (OSA) are at risk for residual OSA following tonsillectomy with/without adenoidectomy (T ± A). We initiated a quality improvement (QI) project to increase the percentage of postoperative (postop) polysomnography (PSG) completion to identify residual OSA. Methods: This is a prospective QI project carried out at a tertiary pediatric academic hospital. Children ≤18 years of age who underwent T ± A for severe OSA were included. Our Specific, Measurable, Attainable, Relevant, and Time-based (SMART) aim was to increase the percentage of completed postop PSGs in this cohort from a baseline of 70% to95% by May 31, 2021. We focused on patient education and leveraged both clinical decision support and reporting functionalities of the electronic medical record for project implementation. Results: During the pre-intervention period between January 1, 2019 to June 30, 2020, 472 patients met the inclusion criteria with an average age of 8.6 years (SD 4.6). The rate of postop PSG completion was 69.7% (SD 11.4%) with an average time of 99 days (SD 66) between surgery and the postop PSG. A shift was observed starting in September 2020, and the PSG completion rate improved to 94.9% by September 30, 2021. Post-intervention, there were 178 patients with an average age of 9.3 years (SD 4.9). The average time between surgery and the postop PSG was significantly reduced to 57 days (SD 16; p < .001). Conclusions: Through a multidisciplinary approach, we successfully completed our SMART aim. With the establishment of QI infrastructure, our goal is to deliver better care in a sustainable fashion using QI methodology.
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OBJECTIVES: To outline an expert-based consensus of recommendations for the diagnosis and management of pediatric patients with congenital tracheal stenosis. METHODS: Expert opinions were sought from members of the International Pediatric Otolaryngology Group (IPOG) via completion of an 18-item survey utilizing an iterative Delphi method and review of the literature. RESULTS: Forty-three members completed the survey providing recommendations regarding the initial history, clinical evaluation, diagnostic evaluation, temporizing measures, definitive repair, and post-repair care of children with congenital tracheal stenosis. CONCLUSION: These recommendations are intended to be used to support clinical decision-making regarding the evaluation and management of children with congenital tracheal stenosis. Responses highlight the diverse management strategies and the importance of a multidisciplinary approach to care of these patients.
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Otolaryngology , Plastic Surgery Procedures , Child , Consensus , Constriction, Pathologic , Humans , Infant , Plastic Surgery Procedures/methods , Trachea/abnormalities , Trachea/surgery , Tracheal Stenosis/congenital , Treatment OutcomeABSTRACT
OBJECTIVE: Transcutaneous laryngeal ultrasonography has been utilized to document vocal cord mobility in the adult perioperative thyroidectomy setting with variable success. The aims of this study were to assess the feasibility of using transcutaneous ultrasound in vocal cord visualization in children, to determine the accuracy in detecting vocal cord immobility compare to flexible laryngoscopy, and to identify any barriers that may affect its utility. METHODS: This is a prospective blinded-assessor study. Transcutaneous laryngeal ultrasound and flexible laryngoscopy were performed in two pediatric settings: perioperative thyroid surgery and inpatient consultation for airway, voice, or swallowing concerns. The video recordings of ultrasound and laryngoscopy were assessed by two fellowship-trained pediatric otolaryngologists independently. RESULTS: A total of 83 paired laryngoscopy and ultrasound assessments were performed, 39 for perioperative thyroidectomy and 44 for inpatient consultation. The majority had normal vocal cord mobility (65/83, 78%), while 16 had unilateral cord palsy and 2 had bilateral palsy. The vocal cords were successfully visualized on ultrasound in 82/83 (99%) evaluations. Compared to gold standard laryngoscopy, the sensitivity for diagnosing vocal cord palsy on ultrasound was 53-83%, and the specificity was 97-98%. The sensitivity for detecting asymmetric vocal cord movement was 56-88%, and the specificity was 99%. The agreement between ultrasound and laryngoscopy diagnoses were 87-94% (κ = 0.58-0.83, moderate to near perfect agreement). The intra-rater agreement was 95-100% (κ = 0.64-1.0), and inter-rater agreement was 90% (κ = 0.66). Both subjects with bilateral vocal cord palsy had incorrect ultrasound diagnoses by both observers. CONCLUSION: We were able to utilize transcutaneous laryngeal ultrasound to successfully visualize vocal cord mobility in almost all pediatric patients with a high degree of specificity. The modality has limitations in the assessment of bilateral vocal cord palsy, and its sensitivity was observer-dependent.
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Vocal Cord Paralysis , Vocal Cords , Adult , Child , Feasibility Studies , Humans , Laryngoscopy , Prospective Studies , Thyroidectomy , Ultrasonography , Vocal Cord Paralysis/diagnostic imaging , Vocal Cords/diagnostic imagingABSTRACT
OBJECTIVE: To report a single-institution's experience of symptomatic aortopulmonary collaterals presenting as tracheostomy tube hemorrhage. STUDY DESIGN: Retrospective case series and Contemporary Review. SETTING: Tertiary care children's hospital. METHODS: Retrospective review, from 2015 to 2020, of patients <18 years old who were treated for tracheostomy hemorrhage with endovascular embolization of aortopulmonary collateral (APC) vessels. RESULTS: 4 patients were identified, 2 males and 2 females, ages 15 months-to 14 years-old, with a range of cyanotic congenital heart diseases. Direct laryngoscopy and bronchoscopy were necessary for excluding proximal airway sources. Chest computed tomography angiography did not localize pulmonary hemorrhage, but helped identify aortopulmonary collaterals. Cardiac catheterization was both diagnostic and therapeutic with use of endovascular embolization techniques by pediatric interventional cardiology and interventional radiology. Previously reported APC-related pulmonary hemorrhages occurred in significantly different settings compared to our patients, and evaluation by an otolaryngologist was key to rule out upper airway etiologies. CONCLUSION: Symptomatic aortopulmonary collaterals is an important etiology in pediatric tracheostomy tube hemorrhage in patients with cyanotic congenital heart disease.
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Embolization, Therapeutic , Heart Defects, Congenital , Adolescent , Child , Collateral Circulation , Female , Heart Defects, Congenital/complications , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/therapy , Hemorrhage , Humans , Male , Postoperative Complications , Pulmonary Artery/abnormalities , Retrospective Studies , Tracheostomy/adverse effectsABSTRACT
PURPOSE OF REVIEW: The neonatal airway is subject to a variety of developmental abnormalities with a wide range of complexity. Symptomatic pathologies present in a spectrum ranging from simple noisy breathing or poor feeding to frank respiratory distress. Diagnosis requires a high index of suspicion, characterization of noisy breathing, and identification of obstructive symptoms such as increased work of breathing, retractions, and difficulty feeding. Surgical management is directed by the pathology. RECENT FINDINGS: The past several years have seen an expansion of surgical innovation as endoscopic and open techniques have evolved. We reviewed articles related to neonatal and infant airway diagnoses since 2020 with the goal of providing a current review and update of developing techniques. Specifically, we discuss some of the exciting trends in surgical management of vocal fold paralysis, laryngeal clefts, subglottic stenosis, tracheobronchomalacia as well as the role of ex utero intrapartum therapy (EXIT procedures). SUMMARY: An underlying theme in evolving surgical management is the exciting advancements in technology, including 3-D printing, and expansion of minimally invasive endoscopic techniques. Though some of these developments are in the initial stages of utilization, they may be potential sources to transform surgical management in the future.
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Infant, Newborn, Diseases , Laryngostenosis , Larynx , Vocal Cord Paralysis , Endoscopy/methods , Humans , Infant , Infant, Newborn , Laryngostenosis/diagnosis , Laryngostenosis/surgery , Larynx/surgery , Vocal Cord Paralysis/diagnosis , Vocal Cord Paralysis/surgeryABSTRACT
OBJECTIVE: To assess the effect of local anesthetic injection on post-operative analgesia and complications for pediatric tonsillectomies on post-operative day (POD) 0 and 1. METHODS: A 2-researcher team following the PRISMA guidelines performed a systematic review and meta-analysis. The databases Pubmed.gov, Embase, Web of Science, and Scopus were used. Studies written with original data utilizing a saline injection control arm were selected. Corresponding authors were contacted for missing data, which was used when possible. The collated data was analyzed with Review Manager (RevMan) Version 5.4., The Cochrane Collaboration, 2020. Surgical technique subgroup analysis was performed. RESULTS: 319 publications were identified and 8 articles with 12 total experimental arms (529 participants) were selected. Local anesthetic injection was compared to saline injection. The standard mean difference for time until first analgesic was 0.68 min [0.26, 1.09](P = 0.001) in favor of local anesthetic. The odds ratio (OR) for patients receiving one or more narcotic doses on POD 0 was 0.22 [0.06, 0.84](P = 0.03) in favor of local anesthetic. CONCLUSIONS: Use of an intraoperative anesthetic injection during pediatric tonsillectomy can help improve initial recovery as it delays the need for narcotic medication and may reduce postoperative narcotic usage on POD 0 and 1. In addition, a local anesthetic does not increase the risk of postoperative bleeding or dehydration.
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Analgesia , Tonsillectomy , Anesthetics, Local , Child , Humans , Pain Management , Pain, Postoperative/drug therapy , Pain, Postoperative/etiology , Pain, Postoperative/prevention & control , Tonsillectomy/adverse effectsABSTRACT
OBJECTIVES: To report the first use of a balloon expandable bare metal stent for treating infant bronchomalacia. BACKGROUND: Infant bronchomalacia often requires prolonged mechanical ventilation and can be life-threatening. Effective treatment for severe infant bronchomalacia continues to be elusive. We present three cases of bronchial stenting for no-option or treatment refractory infant bronchomalacia. METHODS: Three consecutive cases of stenting to relieve conservative treatment refractory severe infant bronchomalacia were performed between February 2019 and December 2020. Initial diagnosis was confirmed with Computed Tomography (CT) angiography. Patients underwent rigid micro laryngoscopy, bronchoscopy, and flexible bronchoscopy to evaluate the airway. Initial conservative management strategies were pursued. Patients failing initial conservative management strategies were considered for rescue bronchial stenting. RESULTS: Our initial clinical experience with a coronary bare metal stent for these procedures has been favorable. The stent was easy to deploy with precision. We did not encounter stent embolization or migration. There was sufficient stent radial strength to relieve bronchomalacia without causing restenosis or erosion. There was no significant granulation tissue formation. In one patient, the stent was removed after 12 months of somatic growth; this was uneventful and bronchial patency was maintained. There were no complications in any of our patients regarding stent placement and reliability. CONCLUSION: In cases of three infants with severe bronchomalacia, we found that bronchial stenting with the bare metal coronary stent was effective in relieving bronchial stenosis.
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Bronchial Diseases , Bronchomalacia , Bronchi/surgery , Bronchial Diseases/diagnosis , Bronchial Diseases/etiology , Bronchial Diseases/surgery , Bronchomalacia/diagnosis , Bronchomalacia/etiology , Bronchomalacia/surgery , Bronchoscopy , Humans , Infant , Reproducibility of Results , StentsABSTRACT
Autoinflammatory disorders of the innate immune system present with recurrent episodes of inflammation often beginning in early childhood. While there are now more than 30 genetically-defined hereditary fever disorders, many patients lack a clear diagnosis. Many pediatric patients are often grouped with patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome despite failing to meet diagnostic criteria. Here, we categorize these patients as syndrome of undifferentiated recurrent fever (SURF), and identify the unique features which distinguish them from the PFAPA syndrome. SURF patients were more likely to report gastrointestinal symptoms of nausea, vomiting and abdominal pain, and experienced inconsistent responses to on-demand steroid therapy compared to PFAPA patients. For this previously undefined cohort, an optimal course of therapy remains uncertain, with medical and surgical therapies largely driven by parental preference. A subset of patients with SURF underwent tonsillectomy with complete resolution. Flow cytometric evaluation demonstrates leukocytic populations distinct from PFAPA patients, with reduced CD3+ T cell numbers. SURF patient tonsils were predominantly characterized by an IL-1 signature compared to PFAPA, even during the afebrile period. Peripheral blood signatures were similar between groups suggesting that PFAPA and SURF patient tonsils have localized, persistent inflammation, without clinical symptoms. These data suggest that SURF is a heterogenous syndrome on the autoinflammatory disease spectrum.
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Fever/diagnosis , Hereditary Autoinflammatory Diseases/diagnosis , Inflammation/diagnosis , Interleukin-1/metabolism , Lymphadenitis/diagnosis , Pharyngitis/diagnosis , Stomatitis, Aphthous/diagnosis , CD3 Complex/metabolism , Child, Preschool , Female , Fever/metabolism , Gastrointestinal Diseases/diagnosis , Gastrointestinal Diseases/metabolism , Hereditary Autoinflammatory Diseases/metabolism , Humans , Inflammation/metabolism , Lymphadenitis/metabolism , Male , Palatine Tonsil/metabolism , Pediatrics , Pharyngitis/metabolism , Stomatitis, Aphthous/metabolism , Syndrome , T-Lymphocytes/metabolism , Tonsillectomy/methodsABSTRACT
OBJECTIVES: To assess the diagnostic utility of metagenomic sequencing in pediatric aerodigestive clinic patients being evaluated for chronic aspiration. We hypothesize that using a metagenomics platform will aid in the identification of microbes not found on standard culture. STUDY DESIGN AND METHODS: Twenty-four children referred to an aerodigestive clinic were enrolled in a prospective, single-site, cross-sectional cohort study. At the time of clinical evaluation under anesthesia, two samples were obtained: an upper airway sample and a sample from bronchoalveolar lavage (BAL). Samples were sent for routine culture and analyzed using Explify® Respiratory, a CLIA Laboratory Developed Test which identifies respiratory commensals and pathogens through RNA and DNA sequencing. Since RNA was sequenced in the course of the metagenomic analysis to identify organisms (RNA viruses and bacteria), the sequencing approach also captured host derived messenger RNA during sample analysis. This incidentally obtained host transcriptomic data were analyzed to evaluate the host immune response. The results of these studies were correlated with the clinical presentation of the research subjects. RESULTS: In 10 patients, organisms primarily associated with oral flora were identified in the BAL. Standard culture was negative in three patients where clinical metagenomics led to a result with potential clinical significance. Transcriptomic data correlated with the presence or absence of dysphagia as identified on prior videofluoroscopic evaluation of swallowing. CONCLUSIONS: Clinical metagenomics allows for simultaneous analysis of the microbiota and the host immune response from BAL samples. As the technologies in this field continue to advance, such testing may improve the diagnostic evaluation of patients with suspected chronic aspiration.