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Reza Rahbar - One of the best experts on this subject based on the ideXlab platform.
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innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy
Laryngoscope, 2020Co-Authors: Claire M Lawlor, Sukgi S. Choi, Reza Rahbar, Charles J Smithers, Thomas E Hamilton, Christopher W Baird, Russell W JenningsAbstract:Objectives/hypothesis Combined anterior and posterior tracheobronchopexy is a novel surgical approach for the management of severe tracheobronchomalacia (TBM). We present our institutional experience with this procedure. Our objective was to determine the utility and safety of anterior and posterior tracheopexy in the treatment of severe TBM. Study design Retrospective chart review. Methods All patients who underwent anterior and posterior tracheopexy from January 2013 to July 2017 were retrospectively reviewed. Charts were reviewed for indications, preoperative work-up, tracheobronchomalacia classification and severity, procedure, associated syndromes, synchronous upper aerodigestive tract lesions, and aberrant thoracic vessels. Main outcomes measured included improvement in respiratory symptoms, successful extubation and/or decannulation, vocal fold immobility, and new tracheotomy placement. Results Twenty-five patients underwent anterior and posterior tracheopexy at a mean age of 15.8 months (range, 2-209 months; mean, 31 months if 2 outliers of 206 and 209 months included). Mean length of follow-up was 26.8 months (range, 13-52 months). Indications for surgery included apneic events, ventilator dependence, need for positive pressure ventilation, tracheotomy dependence secondary to TBM, recurrent pneumonia, and exercise intolerance. Many patients had other underlying syndromes and synchronous upper aerodigestive tract lesions (8 VACTERL, 2 CHARGE, 1 trisomy 21, 1 Feingold syndrome, 17 esophageal atresia/tracheoesophageal fistula, 20 cardiac/great vessel anomalies, 1 subglottic stenosis, 1 laryngomalacia, 7 Laryngeal Cleft). At preoperative bronchoscopy, 21 of 25 patients had >90% collapse of at least one segment of their trachea, and the remaining four had 70% to 90% collapse. Following anterior and posterior tracheopexy, one patient developed new bilateral vocal-fold immobility; one patient with a preoperative left cord paralysis had a new right vocal-fold immobility. Postoperatively, most patients had significant improvement in their respiratory symptoms (21 of 25, 84%) at most recent follow-up. Three patients with preexisting tracheotomy were decannulated; two patients still had a tracheotomy at last follow-up. Two patients required new tracheotomy for bilateral vocal-fold immobility. Conclusions Combined anterior and posterior tracheopexy is a promising new technique for the surgical management of severe TBM. Further experience and longer follow-up are needed to validate this contemporary approach and to minimize the risk of recurrent Laryngeal nerve injury. Level of evidence 4 Laryngoscope, 130:E65-E74, 2020.
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implementing a pediatric perioperative surgical home integrated care coordination pathway for Laryngeal Cleft repair
Anesthesia & Analgesia, 2019Co-Authors: Izabela Leahy, Reza Rahbar, Connor Johnson, Steven J Staffa, Lynne R FerrariAbstract:BACKGROUND: The Pediatric Perioperative Surgical Home (PPSH) model is an integrative care model designed to provide better patient care and value by shifting focus from the patient encounter level to the overarching surgical episode of care. So far, no PPSH model has targeted a complex airway disorder. It was hypothesized that the development of a PPSH for Laryngeal Cleft repair would reduce the high rates of postoperative resource utilization observed in this population. METHODS: Institutional review board approval was obtained for the purpose of data collection and analysis. A multidisciplinary team of anesthesiologists, surgeons, nursing staff, information technology specialists, and finance administrators was gathered during the PPSH development phase. Standardized perioperative (preoperative, intraoperative, and postoperative) protocols were developed, with a focus on preoperative risk stratification. Patients presenting before surgery with ≥1 predefined medical comorbidity were triaged to the intensive care unit (ICU) postoperatively, while patients without severe systemic disease were triaged to a lower-acuity floor for overnight observation. The success of the PPSH protocol was defined by quality outcome and value measurements. RESULTS: The PPSH initiative included 120 patients, and the pre-PPSH period included 115 patients who underwent Laryngeal Cleft repair before implementation of the new process. Patients in the pre-PPSH period were reviewed and classified as ICU candidates or lower acuity floor candidates had they presented in the post-PPSH period. Among the 79 patients in the pre-PPSH period who were identified as candidates for the lower-acuity floor transfer, 70 patients (89%) were transferred to the ICU (P < .001). Retrospective analysis concluded that 143 ICU bedded days could have been avoided in the pre-PPSH group by using PPSH risk stratification. Surgery duration (P = .034) and hospital length of stay (P = .015) were found to be slightly longer in the group of pre-PPSH observation unit candidates. Rates of 30-day unplanned readmissions to the hospital were not associated with the new PPSH initiative (P = .093). No patients in either group experienced emergent postoperative intubation or other expected complications. Total hospital costs were not lower for PPSH observation unit patients as compared to pre-PPSH observation unit candidates (difference = 8%; 95% confidence interval, -7% to 23%). CONCLUSIONS: A well-defined preoperative screening protocol for patients undergoing Laryngeal Cleft repair can reduce postoperative ICU utilization without affecting patient safety. Further research is needed to see if these findings are applicable to other complex airway surgeries.
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Evaluation of Aspiration in Infants With Laryngomalacia and Recurrent Respiratory and Feeding Difficulties.
JAMA otolaryngology-- head & neck surgery, 2019Co-Authors: Alexandria L. Irace, Pamela Dodrill, Natasha D. Dombrowski, Kosuke Kawai, Karen Watters, Sukgi S. Choi, Jennifer Perez, Kayla Hernandez, Kathryn Davidson, Reza RahbarAbstract:Importance Laryngomalacia is the most common Laryngeal anomaly and is commonly associated with stridor in children, but the recurrent respiratory and/or feeding difficulties associated with this condition may pose a threat to the well-being of the affected child. Objective To describe the prevalence of aspiration in pediatric patients with laryngomalacia who present with recurrent respiratory issues and/or feeding difficulty. Design, Setting, and Participants This retrospective review of medical records involved 142 pediatric patients. These patients received a laryngomalacia diagnosis, presented with recurrent respiratory and/or feeding difficulties, and underwent a modified barium swallow (MBS) study at a tertiary referral children’s hospital from January 1, 2015, to December 31, 2015. Each patient was assessed for aspiration and swallowing discoordination. Data collection and analysis were performed from December 1, 2016, to September 30, 2017. Main Outcomes and Measures Demographic data, presenting symptoms, medical comorbidities, and feeding and dysphagia details were collected and analyzed. Speech-language pathologists reviewed all MBS reports to identify the presence and type of aspiration (ie, silent vs nonsilent) with different textures and consistencies of food and liquid. Results A total of 395 patients were diagnosed with laryngomalacia in 2015. One hundred forty-two of these patients (35.9%) presented with recurrent respiratory issues and/or feeding difficulties and were referred for MBS study for further evaluation. Ninety-two (64.8%) were male, with a median (interquartile range) age at the time of MBS study of 7.9 (3.2-20.5) months. Among these patients, 128 (90.1%) had swallowing dysfunction documented during the MBS study. Aspiration was identified in 60 patients (42.3%), and silent aspiration was documented in 59 (98.3%) of these 60 patients. Epilepsy or seizures (risk difference [RD], 11%; 95% CI, 5%-17%), Laryngeal Cleft (RD, 8%; 95% CI, 3%-13%), and premature birth (RD, 15%; 95% CI, 5%-25%) were statistically significantly associated with abnormal MBS findings. Conclusions and Relevance Swallowing dysfunction and aspiration were commonly found in pediatric patients with laryngomalacia and recurrent feeding and/or respiratory issues; these children should undergo an MBS study for dysphagia and silent aspiration.
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prevalence of Laryngeal Cleft in pediatric patients with esophageal atresia
Archives of Otolaryngology-head & Neck Surgery, 2017Co-Authors: Monica Londahl, Alexandria L. Irace, Natasha D. Dombrowski, Kosuke Kawai, Reza Rahbar, Russell W JenningsAbstract:Importance Esophageal atresia (EA), with or without tracheoesophageal fistula (TEF), and Laryngeal Cleft are rare congenital anomalies that often occur together. Previous reports have established a link between EA/TEF and Laryngeal Cleft, but there have been no large case series to further characterize this relationship. Objectives To assess the prevalence of Laryngeal Cleft among patients with EA/TEF, identify associations between types of Laryngeal Cleft and EA/TEF, and identify factors associated with the timing of diagnosis for both conditions. Design, Setting, and Participants Retrospective analysis of 270 patients. The Esophageal Atresia database was used to identify patients seen at the Esophageal and Airway Treatment (EAT) Center at Boston Children’s Hospital, Boston, Massachusetts, a tertiary referral hospital, from August 1, 2009, to August 1, 2016. Patients were included if they were younger than 18 years at the time they were diagnosed with EA, TEF, or both and had undergone a procedure or examination by a surgeon from the EAT Center. Patients with acquired airway or esophageal problems were excluded. Main Outcomes and Measures Data regarding patient demographics, primary diagnoses, dates of diagnosis, comorbidities, and airway/esophageal surgical interventions were collected and analyzed. Association between type of EA/TEF and Laryngeal Cleft type was evaluated. Secondary outcomes were age at diagnosis between patients who resided in Massachusetts and those who resided outside the state. Results Of 270 patients diagnosed with EA/TEF during the 7-year period, 138 (51.1%) were male, and the median age at diagnosis of EA/TEF was 1.0 years (IQR, 0.4-2.0) and at diagnosis of Laryngeal Cleft was 1.1 years (interquartile range [IQR], 0.6-2.8). Laryngeal Cleft was diagnosed in 53 of the 270 patients (19.6%) (95% CI, 14.9%-24.4%). No apparent difference was found in the distribution of types of Laryngeal Cleft by type of EA/TEF. Among patients with EA/TEF type A or B, 9 patients (56%) had a type I Cleft, 6 (38%) had a type II Cleft, and 1 (6%) had a type III Cleft. Among those with EA/TEF type C or D, 20 (57%) had a type I Cleft, 11 (31%) had a type II Cleft, and 3 (9%) had a type III Cleft. Out-of-state patients were more likely to be diagnosed with EA/TEF at an older age than in-state patients (mean difference, 1.5 years; 95% CI, 0-2.9 years). Conclusions and Relevance Pediatric patients with EA/TEF have a much greater prevalence of Laryngeal Cleft than the general population. Multidisciplinary esophageal and airway programs serve as an ideal clinical setting for management of EA/TEF.
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the efficacy and safety of the flexible fiber co2 laser delivery system in the endoscopic management of pediatric airway problems our long term experience
International Journal of Pediatric Otorhinolaryngology, 2017Co-Authors: Alexandria L. Irace, Gi Soo Lee, Reza RahbarAbstract:Abstract Objective To report the use of flexible fiber CO2 laser in the endoscopic management of pediatric airway cases. Methods A retrospective review was conducted of patients who underwent CO2 laser-assisted airway procedures between September 2007 and January 2014 at a tertiary pediatric hospital. Results Sixty-eight patients underwent 80 procedures utilizing flexible fiber CO2 laser. Procedures included supraglottoplasty (n = 32), Laryngeal Cleft repair (type I [n = 10], type II [n = 7], type III [n = 6]), suprastomal granuloma excision (n = 6), cordotomy (n = 4), Laryngeal neurofibroma excision (n = 4), Laryngeal granulomatous mass excision (n = 1), subglottic stenosis excision (n = 6), division of glottic web (n = 2), subglottic cyst excision (n = 1), and supraglottic biopsy (n = 1). Ages ranged from 8 days to 21 years (median 11 months). No intraoperative or postoperative complications related to the use of laser were noted. Conclusions The flexible fiber CO2 laser can be safely and effectively used to address a variety of pediatric airway lesions. Previously, the use of CO2 laser in minimally invasive airway surgery has been limited due to the articulating arm carrier, absence of a hand piece, and the direct line-of sight view required. The fiber allows the cutting beam to be directed at the site of the lesion and bypasses limitations posed by other laser systems.
Russell W Jennings - One of the best experts on this subject based on the ideXlab platform.
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innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy
Laryngoscope, 2020Co-Authors: Claire M Lawlor, Sukgi S. Choi, Reza Rahbar, Charles J Smithers, Thomas E Hamilton, Christopher W Baird, Russell W JenningsAbstract:Objectives/hypothesis Combined anterior and posterior tracheobronchopexy is a novel surgical approach for the management of severe tracheobronchomalacia (TBM). We present our institutional experience with this procedure. Our objective was to determine the utility and safety of anterior and posterior tracheopexy in the treatment of severe TBM. Study design Retrospective chart review. Methods All patients who underwent anterior and posterior tracheopexy from January 2013 to July 2017 were retrospectively reviewed. Charts were reviewed for indications, preoperative work-up, tracheobronchomalacia classification and severity, procedure, associated syndromes, synchronous upper aerodigestive tract lesions, and aberrant thoracic vessels. Main outcomes measured included improvement in respiratory symptoms, successful extubation and/or decannulation, vocal fold immobility, and new tracheotomy placement. Results Twenty-five patients underwent anterior and posterior tracheopexy at a mean age of 15.8 months (range, 2-209 months; mean, 31 months if 2 outliers of 206 and 209 months included). Mean length of follow-up was 26.8 months (range, 13-52 months). Indications for surgery included apneic events, ventilator dependence, need for positive pressure ventilation, tracheotomy dependence secondary to TBM, recurrent pneumonia, and exercise intolerance. Many patients had other underlying syndromes and synchronous upper aerodigestive tract lesions (8 VACTERL, 2 CHARGE, 1 trisomy 21, 1 Feingold syndrome, 17 esophageal atresia/tracheoesophageal fistula, 20 cardiac/great vessel anomalies, 1 subglottic stenosis, 1 laryngomalacia, 7 Laryngeal Cleft). At preoperative bronchoscopy, 21 of 25 patients had >90% collapse of at least one segment of their trachea, and the remaining four had 70% to 90% collapse. Following anterior and posterior tracheopexy, one patient developed new bilateral vocal-fold immobility; one patient with a preoperative left cord paralysis had a new right vocal-fold immobility. Postoperatively, most patients had significant improvement in their respiratory symptoms (21 of 25, 84%) at most recent follow-up. Three patients with preexisting tracheotomy were decannulated; two patients still had a tracheotomy at last follow-up. Two patients required new tracheotomy for bilateral vocal-fold immobility. Conclusions Combined anterior and posterior tracheopexy is a promising new technique for the surgical management of severe TBM. Further experience and longer follow-up are needed to validate this contemporary approach and to minimize the risk of recurrent Laryngeal nerve injury. Level of evidence 4 Laryngoscope, 130:E65-E74, 2020.
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prevalence of Laryngeal Cleft in pediatric patients with esophageal atresia
Archives of Otolaryngology-head & Neck Surgery, 2017Co-Authors: Monica Londahl, Alexandria L. Irace, Natasha D. Dombrowski, Kosuke Kawai, Reza Rahbar, Russell W JenningsAbstract:Importance Esophageal atresia (EA), with or without tracheoesophageal fistula (TEF), and Laryngeal Cleft are rare congenital anomalies that often occur together. Previous reports have established a link between EA/TEF and Laryngeal Cleft, but there have been no large case series to further characterize this relationship. Objectives To assess the prevalence of Laryngeal Cleft among patients with EA/TEF, identify associations between types of Laryngeal Cleft and EA/TEF, and identify factors associated with the timing of diagnosis for both conditions. Design, Setting, and Participants Retrospective analysis of 270 patients. The Esophageal Atresia database was used to identify patients seen at the Esophageal and Airway Treatment (EAT) Center at Boston Children’s Hospital, Boston, Massachusetts, a tertiary referral hospital, from August 1, 2009, to August 1, 2016. Patients were included if they were younger than 18 years at the time they were diagnosed with EA, TEF, or both and had undergone a procedure or examination by a surgeon from the EAT Center. Patients with acquired airway or esophageal problems were excluded. Main Outcomes and Measures Data regarding patient demographics, primary diagnoses, dates of diagnosis, comorbidities, and airway/esophageal surgical interventions were collected and analyzed. Association between type of EA/TEF and Laryngeal Cleft type was evaluated. Secondary outcomes were age at diagnosis between patients who resided in Massachusetts and those who resided outside the state. Results Of 270 patients diagnosed with EA/TEF during the 7-year period, 138 (51.1%) were male, and the median age at diagnosis of EA/TEF was 1.0 years (IQR, 0.4-2.0) and at diagnosis of Laryngeal Cleft was 1.1 years (interquartile range [IQR], 0.6-2.8). Laryngeal Cleft was diagnosed in 53 of the 270 patients (19.6%) (95% CI, 14.9%-24.4%). No apparent difference was found in the distribution of types of Laryngeal Cleft by type of EA/TEF. Among patients with EA/TEF type A or B, 9 patients (56%) had a type I Cleft, 6 (38%) had a type II Cleft, and 1 (6%) had a type III Cleft. Among those with EA/TEF type C or D, 20 (57%) had a type I Cleft, 11 (31%) had a type II Cleft, and 3 (9%) had a type III Cleft. Out-of-state patients were more likely to be diagnosed with EA/TEF at an older age than in-state patients (mean difference, 1.5 years; 95% CI, 0-2.9 years). Conclusions and Relevance Pediatric patients with EA/TEF have a much greater prevalence of Laryngeal Cleft than the general population. Multidisciplinary esophageal and airway programs serve as an ideal clinical setting for management of EA/TEF.
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the association between Laryngeal Cleft and tracheoesophageal fistula myth or reality
Laryngoscope, 2015Co-Authors: Jose Carlos Soares De Fraga, Russell W Jennings, Eelam Adil, Amy Kacprowicz, Margaret L Skinner, C W Lillehei, Reza RahbarAbstract:Objectives/Hypothesis Laryngeal Cleft (LC) associated with tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) has rarely been described. The purpose of this study is to review our experience, clinical features, management, delay in diagnosis, and complications in children with these anomalies. Study Design Retrospective chart review at pediatric tertiary referral center. Methods Patients diagnosed with LC alone or LC and TEF over a 10-year period were included. Data including demographics, type of TEF and LC, comorbidities, symptoms, management, complications and swallowing outcomes were analyzed. Results There were 161 pediatric patients diagnosed with LC alone and 22 with LC and TEF. In patients with LC and TEF, aspiration was the most common presenting symptom (n = 11, 50%). Seventeen patients (77%, mean age 4 years 7 months) underwent endoscopic repair and five patients (23%) with type I Clefts did not require surgery. Two patients required revision surgery. For patients with LC alone, the mean age at repair was 3.70 years (4 months–19.9 years) compared to 4.69 years (8 months–17.83 years) for patients with LC and TEF (P = 0.0187). The postoperative swallowing studies from 15 patients showed no aspiration. Mean follow-up was 4 years and 6 months. Conclusion The diagnosis and management of LC in patients with TEF is often delayed. If a child presents with persistent aspiration after TEF repair, a complete airway endoscopy should be performed to evaluate for vocal fold mobility and Cleft. Endoscopic repair is the recommended approach for those patients requiring surgical intervention. Level of Evidence 4. Laryngoscope, 125:469–474, 2015
Dusica Babovicvuksanovic - One of the best experts on this subject based on the ideXlab platform.
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mosaic r 13 resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
American Journal of Medical Genetics, 2002Co-Authors: Cindy Pham Lorentz, Syed M Jalal, Dana M Thompson, Dusica BabovicvuksanovicAbstract:A newborn female presented with multiple congenital anomalies including facial dysmorphism, agenesis of the corpus callosum, type I Laryngeal Cleft, tracheal stenosis, bilaterally small kidneys, segmental vertebral anomalies, extranumerary rib, bilateral hip dislocation, digital anomalies, and growth retardation. Newborn aneuploidy detection (NAD) based on interphase fluorescence in situ hybridization (FISH) indicated monosomy 13 in 47 of 200 (23.5%) peripheral blood cells (normal cutoff 8.5% at 95% CI). The follow-up banded metaphase-based analysis of 20 cells revealed a karyotype of 46,XX. The analysis of 30 additional cells revealed one cell to have monosomy 13 and a small ring chromosome. In the abnormal cell line, the ring was positive for whole chromosome paint (wcp) 13 and negative for Rb1 (13q14.3). The ring was detected in 4% of 80 additional metaphases studied by FISH. Therefore, the ring was present in 4% (5/130) of metaphases from peripheral blood. Analysis of buccal cells by FISH indicated the ring was present in 36% of cells. A higher degree of mosaicism (60%) was detected in fibroblast cultures from a skin biopsy. The low-level mosaicism of ring 13 in metaphase cells from peripheral blood would have been missed if the standard 20 GTL-banded metaphases had been analyzed. In this case, a preliminary interphase FISH study had indicated monosomy 13 resulting from a large 13q deletion that included the Rb1 locus. This finding initiated the analysis of additional metaphases by GTL-banding and the analysis of metaphases and interphases by FISH. The clinical presentation of our patient was consistent with reported cases of 13q deletions. In addition, our patient had airway anomalies, including a type I Laryngeal Cleft and tracheal stenosis, which are previously unreported. © 2002 Wiley-Liss, Inc.
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mosaic r 13 resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
American Journal of Medical Genetics, 2002Co-Authors: Cindy Pham Lorentz, Syed M Jalal, Dana M Thompson, Dusica BabovicvuksanovicAbstract:A newborn female presented with multiple congenital anomalies including facial dysmorphism, agenesis of the corpus callosum, type I Laryngeal Cleft, tracheal stenosis, bilaterally small kidneys, segmental vertebral anomalies, extranumerary rib, bilateral hip dislocation, digital anomalies, and growth retardation. Newborn aneuploidy detection (NAD) based on interphase fluorescence in situ hybridization (FISH) indicated monosomy 13 in 47 of 200 (23.5%) peripheral blood cells (normal cutoff 8.5% at 95% CI). The follow-up banded metaphase-based analysis of 20 cells revealed a karyotype of 46,XX. The analysis of 30 additional cells revealed one cell to have monosomy 13 and a small ring chromosome. In the abnormal cell line, the ring was positive for whole chromosome paint (wcp) 13 and negative for Rb1 (13q14.3). The ring was detected in 4% of 80 additional metaphases studied by FISH. Therefore, the ring was present in 4% (5/130) of metaphases from peripheral blood. Analysis of buccal cells by FISH indicated the ring was present in 36% of cells. A higher degree of mosaicism (60%) was detected in fibroblast cultures from a skin biopsy. The low-level mosaicism of ring 13 in metaphase cells from peripheral blood would have been missed if the standard 20 GTL-banded metaphases had been analyzed. In this case, a preliminary interphase FISH study had indicated monosomy 13 resulting from a large 13q deletion that included the Rb1 locus. This finding initiated the analysis of additional metaphases by GTL-banding and the analysis of metaphases and interphases by FISH. The clinical presentation of our patient was consistent with reported cases of 13q deletions. In addition, our patient had airway anomalies, including a type I Laryngeal Cleft and tracheal stenosis, which are previously unreported.
Deepak Mehta - One of the best experts on this subject based on the ideXlab platform.
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injection laryngoplasty for type 1 Laryngeal Cleft in children
Otolaryngology-Head and Neck Surgery, 2011Co-Authors: Michael S Cohen, Lei Zhuang, Jeffrey P Simons, David H Chi, Raymond C Maguire, Deepak MehtaAbstract:Objective. To review the 2-year, single-institution experience with injection laryngoplasty for diagnosis and treatment of type 1 Laryngeal Clefts (LC-1).Study Design. Case series with chart review.Setting. Tertiary care academic children’s hospital.Subjects and Methods. Patients at our institution who underwent injection laryngoplasty for LC-1 from January 2008 to December 2009. Outcome measures included patient demographics, surgical and anesthetic technique, effect on swallowing, and complications. Preoperative and postoperative swallowing evaluations were compared, and quality and duration of effects were calculated.Results. Sixteen children, 9 male and 7 female, underwent injection laryngoplasty for LC-1. Mean gestational age was 36.4 weeks (SD, 4.0 weeks; range, 27-41 weeks). Six patients had a major congenital anomaly (37.5%). Mean age at injection was 11.8 months (SD, 8.9 months; range, 2.9-33.5 months). Nine patients (56%) demonstrated complete resolution of penetration and aspiration on postoper...
Cindy Pham Lorentz - One of the best experts on this subject based on the ideXlab platform.
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mosaic r 13 resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
American Journal of Medical Genetics, 2002Co-Authors: Cindy Pham Lorentz, Syed M Jalal, Dana M Thompson, Dusica BabovicvuksanovicAbstract:A newborn female presented with multiple congenital anomalies including facial dysmorphism, agenesis of the corpus callosum, type I Laryngeal Cleft, tracheal stenosis, bilaterally small kidneys, segmental vertebral anomalies, extranumerary rib, bilateral hip dislocation, digital anomalies, and growth retardation. Newborn aneuploidy detection (NAD) based on interphase fluorescence in situ hybridization (FISH) indicated monosomy 13 in 47 of 200 (23.5%) peripheral blood cells (normal cutoff 8.5% at 95% CI). The follow-up banded metaphase-based analysis of 20 cells revealed a karyotype of 46,XX. The analysis of 30 additional cells revealed one cell to have monosomy 13 and a small ring chromosome. In the abnormal cell line, the ring was positive for whole chromosome paint (wcp) 13 and negative for Rb1 (13q14.3). The ring was detected in 4% of 80 additional metaphases studied by FISH. Therefore, the ring was present in 4% (5/130) of metaphases from peripheral blood. Analysis of buccal cells by FISH indicated the ring was present in 36% of cells. A higher degree of mosaicism (60%) was detected in fibroblast cultures from a skin biopsy. The low-level mosaicism of ring 13 in metaphase cells from peripheral blood would have been missed if the standard 20 GTL-banded metaphases had been analyzed. In this case, a preliminary interphase FISH study had indicated monosomy 13 resulting from a large 13q deletion that included the Rb1 locus. This finding initiated the analysis of additional metaphases by GTL-banding and the analysis of metaphases and interphases by FISH. The clinical presentation of our patient was consistent with reported cases of 13q deletions. In addition, our patient had airway anomalies, including a type I Laryngeal Cleft and tracheal stenosis, which are previously unreported. © 2002 Wiley-Liss, Inc.
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mosaic r 13 resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
American Journal of Medical Genetics, 2002Co-Authors: Cindy Pham Lorentz, Syed M Jalal, Dana M Thompson, Dusica BabovicvuksanovicAbstract:A newborn female presented with multiple congenital anomalies including facial dysmorphism, agenesis of the corpus callosum, type I Laryngeal Cleft, tracheal stenosis, bilaterally small kidneys, segmental vertebral anomalies, extranumerary rib, bilateral hip dislocation, digital anomalies, and growth retardation. Newborn aneuploidy detection (NAD) based on interphase fluorescence in situ hybridization (FISH) indicated monosomy 13 in 47 of 200 (23.5%) peripheral blood cells (normal cutoff 8.5% at 95% CI). The follow-up banded metaphase-based analysis of 20 cells revealed a karyotype of 46,XX. The analysis of 30 additional cells revealed one cell to have monosomy 13 and a small ring chromosome. In the abnormal cell line, the ring was positive for whole chromosome paint (wcp) 13 and negative for Rb1 (13q14.3). The ring was detected in 4% of 80 additional metaphases studied by FISH. Therefore, the ring was present in 4% (5/130) of metaphases from peripheral blood. Analysis of buccal cells by FISH indicated the ring was present in 36% of cells. A higher degree of mosaicism (60%) was detected in fibroblast cultures from a skin biopsy. The low-level mosaicism of ring 13 in metaphase cells from peripheral blood would have been missed if the standard 20 GTL-banded metaphases had been analyzed. In this case, a preliminary interphase FISH study had indicated monosomy 13 resulting from a large 13q deletion that included the Rb1 locus. This finding initiated the analysis of additional metaphases by GTL-banding and the analysis of metaphases and interphases by FISH. The clinical presentation of our patient was consistent with reported cases of 13q deletions. In addition, our patient had airway anomalies, including a type I Laryngeal Cleft and tracheal stenosis, which are previously unreported.
