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BMC Anesthesiology Jun 2023Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or...
BACKGROUND
Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or less severe extracranial anomalies. A variety of supraglottic malformations may be observed, including mandibular hypoplasia, mandibular asymmetry and micrognathia. Subglottic airway stenosis (SGS), which can cause difficulties in airway management during the perioperative period, is seldom emphasized in literature descriptions of Goldenhar syndrome, but can be clinically significant.
CASE PRESENTATION
An 18-year-old female with a history of Goldenhar syndrome presented for placement of a right mandibular distractor, right retroauricular dilator, and stage I transfer of a prefabricated expanded flap under general anesthesia. During tracheal intubation, the endotracheal tube (ETT) met resistance unexpectantly when attempting to pass through the glottis. Subsequently, we attempted the procedure with a smaller size ETT but again met resistance. With fiberoptic bronchoscope, we found that the whole segment of the trachea and bilateral bronchi were obvious narrow. Given the finding of unexpected severe airway stenosis and the associated risks with proceeding with the surgery, the operation was cancelled. We removed the ETT once the patient was fully awake.
CONCLUSIONS
Anesthesiologists should be aware of this clinical finding when evaluating the airway of a patient with Goldenhar syndrome. Coronal and sagittal measurements on computerized tomography (CT) and three-dimensional image reconstruction can be used to evaluate the degree of subglottic airway stenosis and measure the diameter of the trachea.
Topics: Female; Humans; Adolescent; Goldenhar Syndrome; Constriction, Pathologic; Intubation, Intratracheal; Trachea; Glottis
PubMed: 37328815
DOI: 10.1186/s12871-023-02179-w -
JAMA Otolaryngology-- Head & Neck... Jul 2017Targeted laryngoscopy training can be used successfully in de novo learners.
IMPORTANCE
Targeted laryngoscopy training can be used successfully in de novo learners.
OBJECTIVE
To determine the value of targeted laryngoscopy education in interns.
DESIGN, SETTING, AND PARTICIPANTS
This prospective study of fiberoptic laryngoscopy interpretations enrolled 13 participants in an academic hospital setting from August 1 to December 31, 2015. Participants included 10 postgraduate year 1 emergency and otolaryngology interns and 3 board-certified otolaryngology attending physicians.
INTERVENTIONS
Participants viewed 25 selected and digitally recorded fiberoptic laryngoscopies and were asked to rate 13 items relating to abnormalities in the pharynx, hypopharynx, larynx, and subglottis; the level of concern; and confidence with the diagnosis. A laryngoscopy teaching video was then administered to the interns before rating a second set of 25 videos. Improvement in diagnosis and intraclass correlation coefficients (ICC) were calculated for each question and compared between the first and second administration.
MAIN OUTCOMES AND MEASURES
Improvement in correct diagnosis of abnormalities in recorded laryngoscopies.
RESULTS
All 13 participants completed the interventions. The ICCs for all questions were generally low for the intern groups and higher for the attending group. For vocal cord mobility, a preintervention ICC of 0.25 (95% CI, 0.16-0.37) improved to 0.47 (95% CI, 0.36-0.59) among interns after the intervention. The ICCs for vocal cord mobility were higher among attendings for the preintervention (0.89; 95% CI, 0.84-0.93) and postintervention (0.89; 95% CI, 0.83-0.93) assessments. Minimal improvement was observed in intern scores for base of tongue abnormalities, subglottic stenosis, vocal cord abnormalities, level of comfort, level of concern, pharyngeal abnormalities, or laryngeal, pharyngeal, and hypopharyngeal masses.
CONCLUSIONS AND RELEVANCE
Learning of flexible laryngoscopy can be improved with the use of a teaching video; however, additional interventions are needed to attain competence in accurately diagnosing upper airway lesions. Clinicians who seek to perform flexible laryngoscopy require robust training.
Topics: Adult; Education, Medical, Continuing; Education, Medical, Graduate; Female; Fiber Optic Technology; Humans; Internship and Residency; Laryngoscopy; Male; Prospective Studies; Teaching Materials; Video Recording
PubMed: 28472351
DOI: 10.1001/jamaoto.2017.0120 -
Case Reports in Neurology 2022We describe an acute, postoperative dysarthria-facial paresis. While the rare stroke syndrome has been described previously, we present an under-described clinical...
We describe an acute, postoperative dysarthria-facial paresis. While the rare stroke syndrome has been described previously, we present an under-described clinical nuance to its presentation with a particularly clear imaging correlation. A 78-year-old, right-handed man with a past medical history of aortic stenosis presented after a transcatheter aortic valve replacement. Immediately postoperatively, no neurological deficits were noted. That evening, he described his speech as "drunken." He was later noted to have a right lower facial droop in addition to the speech change. His speech exhibited labial, lingual, and (to a lesser degree) guttural dysarthria. At the patient's request due to claustrophobia, he received 2 mg of oral lorazepam prior to cranial imaging. Afterwards, he was sleepy but arousable, yet was unable to put pen to paper when asked to write. Right lower facial paresis persisted, but he now demonstrated a right pronator drift, which resolved after 14 h without other evolution to his clinical examination. Brainstem lesions above the level of the pontine facial nucleus may present with central facial paresis contralateral to the lesion. An associated dysarthria may have both labial and lingual features in the absence of tongue or pharyngeal weakness. Our review of reported cases of dysarthria in isolation, dysarthria in combination with facial paresis, and facial paresis finds that all presentations may result from cortical, subcortical, or brainstem involvement. Stroke mechanisms are most commonly thromboembolic or small-vessel-ischemic in either the anterior or posterior circulations.
PubMed: 35431875
DOI: 10.1159/000522283 -
The Laryngoscope Jun 2021Long-term functional outcomes are poorly characterized for salvage laryngectomy. We identified predictors of esophageal stricture and swallowing function after salvage...
BACKGROUND
Long-term functional outcomes are poorly characterized for salvage laryngectomy. We identified predictors of esophageal stricture and swallowing function after salvage laryngectomy in a large cohort.
METHODS
A retrospective study of 233 patients who underwent salvage total laryngectomy for recurrent/persistent squamous cell carcinoma of the larynx or hypopharynx after radiation (XRT) or chemoradiation (CRT) was performed. Primary outcomes were esophageal dilation within 1 year, time to dilation, and gastrostomy tube dependence. Multivariate logistic and Cox regressions were used for statistical analysis.
RESULTS
Dilation was performed in 29.9% of patients. Dilation was twice as likely in patients with post-operative fistula compared to those without (Hazard Ratio (HR) 2.10, 95% Confidence Interval (CI) 1.06-4.13, P = .03). Every year between XRT/CRT and salvage was associated with 10% increase in dilation (HR 1.09, 95% CI 1.03-1.17, P = .01). No factors were associated with dilation by 1 year. About 10% of patients were at least partially gastrostomy tube-dependent 1 year post-operatively. At last follow-up (median 29 months), this rate was 13%. Patients with supraglottic recurrence had an increased risk of gastrostomy tube dependence at 1 year compared to glottic (OR 16.7, 95% CI 1.73-160, P = .02). For every 10 pack years pre-salvage, the OR of requiring tube feeds at last follow-up was 1.24 (95% CI 1.04-1.48, P = .02).
CONCLUSIONS
Fistula and pre-salvage smoking were associated with stricture post-salvage laryngectomy. No factors were associated with dilation by 1 year. Supraglottic recurrence and smoking were associated with gastrostomy tube dependence. These findings are important for pre-operative counseling prior to salvage laryngectomy.
LEVEL OF EVIDENCE
Level 4 Laryngoscope, 131:1229-1234, 2021.
Topics: Aged; Carcinoma, Squamous Cell; Constriction, Pathologic; Deglutition; Esophageal Fistula; Esophageal Stenosis; Female; Gastrostomy; Humans; Hypopharyngeal Neoplasms; Hypopharynx; Laryngeal Neoplasms; Laryngectomy; Larynx; Logistic Models; Male; Middle Aged; Neoplasm Recurrence, Local; Odds Ratio; Postoperative Complications; Postoperative Period; Proportional Hazards Models; Retrospective Studies; Salvage Therapy; Smoking; Time Factors; Treatment Outcome
PubMed: 33152117
DOI: 10.1002/lary.29215 -
Indian Journal of Otolaryngology and... Dec 2021Treatment of locally advanced laryngeal and hypopharyngeal cancers often requires total laryngectomy with partial pharyngectomy and adjuvant radiotherapy. Dysphagia is...
Treatment of locally advanced laryngeal and hypopharyngeal cancers often requires total laryngectomy with partial pharyngectomy and adjuvant radiotherapy. Dysphagia is common after such aggressive treatment which is often under reported, but adversely affects the quality of life in these patients. The cause for this dysphagia is loss of pharyngeal mucosa, fibrosis, disruption of constrictors and loss of skeletal support to soft tissues. In this study 32 patients treated by laryngectomy with partial pharyngectomy and adjuvant radiotherapy underwent fibreoptic endoscopic evaluation of swallowing at 6 and 12 weeks after completion of treatment. Majority of them had delayed transit of bolus, dryness and edema and 6 of them had pharyngeal stenosis, 2 had fibrotic band and 2 had adynamic pharyngeal segments. These findings were the cause of dysphagia. The frequency of occurrence of the above findings and their association with extent of resection of pharyngeal mucosa and adjuvant treatment have been documented. Bilateral neck dissection, post operative chemotherapy with radiotherapy and use of myocutaneous flap for the reconstruction of neopharynx were found to cause severe dysphagia in our series. Some of these patients benefitted by swallowing therapy, diet modifications and nasogastric feeding. Therefore early identification of cause of dysphagia in these patients and timely intervention to facilitate rehabilitation can improve the quality of life and reduce the long term morbidity in these patients.
PubMed: 34692453
DOI: 10.1007/s12070-020-01873-2 -
Developmental Dynamics : An Official... Nov 201614-3-3ε plays an important role in the maturation of the compact ventricular myocardium by modulating the cardiomyocyte cell cycle via p27 . However, additional cardiac...
BACKGROUND
14-3-3ε plays an important role in the maturation of the compact ventricular myocardium by modulating the cardiomyocyte cell cycle via p27 . However, additional cardiac defects are possible given the ubiquitous expression pattern of this protein.
RESULTS
Germ line deletion of 14-3-3ε led to malalignment of both the outflow tract (OFT) and atrioventricular (AV) cushions, with resulting tricuspid stenosis and atresia, mitral valve abnormalities, and perimembranous ventricular septal defects (VSDs). We confirmed myocardial non-compaction and detected a spongy septum with muscular VSDs and blebbing of the epicardium. These defects were associated with abnormal patterning of p27 expression in the subendocardial and possibly the epicardial cell populations. In addition to abnormal pharyngeal arch artery patterning, we found deep endocardial recesses and paucity of intramyocardial coronary vasculature as a result of defective coronary plexus remodeling.
CONCLUSIONS
The malalignment of both endocardial cushions provides a new explanation for tricuspid and mitral valve defects, while myocardial non-compaction provides the basis for the abnormal coronary vasculature patterning. These abnormalities might arise from p27 dysregulation and a resulting defect in epithelial-to-mesenchymal transformation. These data suggest that 14-3-3ε, in addition to left ventricular non-compaction (LVNC), might be linked to different forms of congenital heart disease (CHD). Developmental Dynamics 245:1107-1123, 2016. © 2016 Wiley Periodicals, Inc.
Topics: 14-3-3 Proteins; Animals; Coronary Artery Disease; Cyclin-Dependent Kinase Inhibitor p27; Endocardium; Gene Expression Regulation, Developmental; Heart Defects, Congenital; Heart Ventricles; Mice; Myocardium
PubMed: 27580238
DOI: 10.1002/dvdy.24440 -
European Journal of Medical Genetics May 2018Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It... (Review)
Review
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis. The genomic imbalances investigation by Multiplex Ligation-dependent Probe Amplification (MLPA) and Chromosomal Microarray Analysis (CMA) revealed a distal deletion of 1,048 kb at 22q11.2 encompassing the region from Low Copy Repeats (LCRs) D to E. We did review of the literature and genotype-phenotype correlation. This is the sixth case of distal 22q11.2 deletion resembling CFM and the second encompassing the region between LCRs D to E. All cases share some phenotypic signs, such as preauricular tags, facial asymmetry, cleft lip and palate, and congenital heart diseases. Candidate genes in this region have been studied by having an important role in pharyngeal arches developmental and in congenital heart diseases, such as HIC2, YPEL1and MAPK1/ERK2. This case corroborates the phenotypic similarity between 22q11.2 distal deletion and CFM/OAVS. It also contributes to genotype-phenotype correlation and reinforces that candidate genes for CFM, in the 22q11.2 region, might be located between LCRs D and E.
Topics: 22q11 Deletion Syndrome; Child; Diagnosis, Differential; Female; Genetic Loci; Genotype; Goldenhar Syndrome; Humans; Phenotype
PubMed: 29288792
DOI: 10.1016/j.ejmg.2017.12.013 -
PloS One 2020In congenital heart malformations with pulmonary stenosis to atresia an abnormal lateral ductus arteriosus to left pulmonary artery connection can lead to a localised...
OBJECTIVES
In congenital heart malformations with pulmonary stenosis to atresia an abnormal lateral ductus arteriosus to left pulmonary artery connection can lead to a localised narrowing (pulmonary ductal coarctation) or even interruption We investigated embryonic remodelling and pathogenesis of this area.
MATERIAL AND METHODS
Normal development was studied in WntCre reporter mice (E10.0-12.5) for neural crest cells and Nkx2.5 immunostaining for second heart field cells. Data were compared to stage matched human embryos and a VEGF120/120 mutant mouse strain developing pulmonary atresia.
RESULTS
Normal mouse and human embryos showed that the mid-pharyngeal endothelial plexus, connected side-ways to the 6th pharyngeal arch artery. The ventral segment formed the proximal pulmonary artery. The dorsal segment (future DA) was solely surrounded by neural crest cells. The ventral segment had a dual outer lining with neural crest and second heart field cells, while the distal pulmonary artery was covered by none of these cells. The asymmetric contribution of second heart field to the future pulmonary trunk on the left side of the aortic sac (so-called pulmonary push) was evident. The ventral segment became incorporated into the pulmonary trunk leading to a separate connection of the left and right pulmonary arteries. The VEGF120/120 embryos showed a stunted pulmonary push and a variety of vascular anomalies.
SUMMARY
Side-way connection of the DA to the left pulmonary artery is a congenital anomaly. The primary problem is a stunted development of the pulmonary push leading to pulmonary stenosis/atresia and a subsequent lack of proper incorporation of the ventral segment into the aortic sac. Clinically, the aberrant smooth muscle tissue of the ductus arteriosus should be addressed to prohibit development of severe pulmonary ductal coarctation or even interruption of the left pulmonary artery.
Topics: Animals; Aorta; Ductus Arteriosus; Homeobox Protein Nkx-2.5; Humans; Mice; Mice, Inbred C57BL; Neural Crest; Pulmonary Artery; Pulmonary Atresia; Vascular Endothelial Growth Factor A
PubMed: 32413023
DOI: 10.1371/journal.pone.0228478 -
Plastic and Reconstructive Surgery.... Aug 2020We report the first case of a 50-year-old woman who developed nasopharyngeal stenosis (NPS) after chemotherapy for malignant lymphoma. The chemotherapy was effective,...
We report the first case of a 50-year-old woman who developed nasopharyngeal stenosis (NPS) after chemotherapy for malignant lymphoma. The chemotherapy was effective, but NPS developed following treatment. The tumors of the pharynx and soft palate became necrotic and turned into scar tissue, which caused NPS, especially in the caudal part of the soft palate. The patient developed nasal obstruction and obstructive sleep apnea due to the stenosis. The patient underwent 2 surgeries to resolve the NPS: the first was a simple incision of the stenosis, and the second was Z-plasty and mucous membrane transplantation from the posterior pharyngeal wall. However, the NPS recurred soon after these 2 surgeries. We used bilateral inferior-based facial artery musculomucosal (FAMM) flaps as a solution for recurrent NPS, and it was effective in preventing further stenosis. The blood supply to the flaps was stable, and the size of the flaps was enough to compensate for the area of tissue deficit. The use of bilateral FAMM flaps allowed both sides of the NPS to be corrected, and the flaps provided sufficient retracting strength to keep expanding the nasopharyngeal space by pulling from both sides. After the operation, nasal obstruction was decreased, and the sleep quality of the patient improved significantly. The velopharyngeal function was maintained, and there was no symptom of nasopharyngeal insufficiency. Our results suggest that the bilateral FAMM flap is a suitable method to rescue intractable cases of NPS.
PubMed: 32983793
DOI: 10.1097/GOX.0000000000003041 -
The Journal of Veterinary Medical... Oct 2020A 76-day-old Japanese Black calf presented with severe stridor, resenting palpation of the laryngeal region. Endoscopic examination revealed an expansile process...
A 76-day-old Japanese Black calf presented with severe stridor, resenting palpation of the laryngeal region. Endoscopic examination revealed an expansile process restricting the esophageal and tracheal lumina caudal to the arytenoid cartilage, hyperemia and edema of the pharyngeal mucosa, right arytenoid cartilage swelling and displacement, and marked airway obstruction. The absence of an endotracheal wall abnormality impeded a definitive diagnosis. Computed tomography (CT) revealed a mass (CT value: 40-45 HU) caudal to the arytenoid cartilage, causing tracheal stenosis and esophageal displacement. The presence of gas in the mass suggested the presence of an abscess. Diagnosis of deep retropharyngeal lesions by conventional endoscopic and ultrasonographic examinations may be challenging; CT can then provide more comprehensive diagnostic information on a lesion.
Topics: Abscess; Airway Obstruction; Animals; Arytenoid Cartilage; Cattle; Cattle Diseases; Larynx; Tomography, X-Ray Computed
PubMed: 32879155
DOI: 10.1292/jvms.20-0384