Airway Growth in Preoperative Patients with Crouzon Syndrome.

Background: Obstructive sleep apnea is common in patients with Crouzon syndrome, yet it may be caused by multiple factors. This study aims to investigate the natural history of airway development in preoperative Crouzon patients, from infants to adults. Methods: Preoperative computed tomography (CT) scans (Crouzon syndrome, n = 73; control, n = 87) were divided into five age subgroups. CT scans were measured using Materialise software. Results: Before 6 months of age, nasal airway volume in patients with Crouzon syndrome was smaller than normal by 37% (p = 0.002), and the cross-sectional area at the choana reduced by 45% (p < 0.001). The reduction of nasal airway volume and cross-sectional area reached their nadir at 2 years of age, with shortening of 44% and 63% (both p < 0.001), respectively. They gradually caught up to normal dimensions after 6 years of age. Between 2 and 6 years, the pharyngeal airway in patients with Crouzon syndrome reduced 44% (p = 0.011) compared with controls. However, the airway cross-sectional area at condylion and gonion levels was less than normal, before 6 months (35%, p = 0.024) and (44%, p = 0.006) after 2 years of age, respectively. This reduction remains into adulthood. Conclusion: Nasal airway volume is more limited in children with Crouzon syndrome who are younger than 2 years of age. Whereas after 2 years of age, the pharyngeal airway develops significant volume restriction, leading to timing and specific treatment area foci based on the site of temporal maximal constriction.

Spindle cell lipoma of the larynx: A case report.

INTRODUCTION: Lipomas are rarely found in primary mesenchymal tumors of the hypopharynx and larynx. When they do appear, they often macroscopically resemble a retention cyst or laryngeal nodule. The laryngeal spindle cell lipoma, a variant, is extremely rare. PATIENT CONCERNS: A 65-year-old woman presented with a 3-month history of pharyngeal paraesthesia. Laryngoscopy revealed the presence of a well-encapsulated, smooth-surfaced, yellowish, pedicled mass on the left epiglottis. Magnetic resonance imaging confirmed the epiglottic mass. DIAGNOSIS: Following excision of the mass, the diagnosis of an spindle cell lipoma was established and confirmed by immunohistochemistry. INTERVENTIONS: Surgical excision of the lesion using a controlled-temperature plasma technique (coblation). OUTCOMES: At the last (4-year) follow-up evaluation, the patient was asymptomatic and without recurrence. CONCLUSION: SLC involvement of the epiglottis is rare. Coblation is an effective means to remove it.

Surgical Approaches and 30-Day Complications of Velopharyngeal Insufficiency Repair Using American College of Surgeons National Surgical Quality Improvement Program-Pediatric.

BACKGROUND: This study aims to outline the 30-d complications of different velopharyngeal insufficiency (VPI) correction techniques using the American College of Surgeons National Surgical Quality Improvement Program-Pediatric. METHODS: Using the American College of Surgeons National Surgical Quality Improvement Program-Pediatric, VPI cases from 2012 to 2015 were identified. Patients were subdivided into two cohorts: (1) palatal procedures and (2) pharyngeal procedures, with the latter being subdivided into (1) pharyngeal flap and (2) sphincter pharyngoplasty. Patient characteristics and postoperative outcomes were compared using Pearson's chi-squared or Fischer's exact test for categorical variables and independent t-tests, Wilcoxon-Mann-Whitney, or analysis of variance for continuous variables. RESULTS: A total of 767 VPI cases were identified: 191 (24.9%) treated with palatal procedures and 576 (75.1%) with pharyngeal procedures, of which 444 were pharyngeal flap and 132 were sphincter pharyngoplasty. Patients who underwent palatal procedure had longer anesthesia (152.41 min) and operating time (105.72 min), whereas patients who underwent pharyngeal procedure had longer length of stay (1.66 d). There were no significant differences in outcomes between the two groups, nor were there significant differences in outcomes between pharyngeal flap and sphincter pharyngoplasty subgroups. Patients who experienced complications were younger, shorter, inpatient, and having a shorter operation time, longer anesthesia time, or longer length of stay. Plastic surgeons performed the majority of palatal procedures (62.3%), whereas pharyngeal procedures were most often performed by otolaryngologists (48.8%). CONCLUSIONS: As per national data, both palatal and pharyngeal procedures for repair can be performed with comparable 30-d complications. The chosen technique may be based on patient presentation and on the surgeon comfort level.

[Sonographic evaluation of anatomic landmarks in patients with obstructive sleep apnea]. / Sonographische Evaluation anatomischer Landmarken bei Patienten mit obstruktiver Schlafapnoe.

BACKGROUND: In recent years, new key factors in the genesis of obstructive sleep apnea (OSA) have been described. This has led to investigation of individualized therapeutic approaches in sleep medicine. The aim of the current study is assessment of the upper respiratory tract by sonographic measurement of various anatomic landmarks. MATERIALS AND METHODS: Patients with rhonchopathy as well as OSA of different severity were included and compared to healthy volunteers. All patients underwent polygraphy for assessment of nocturnal respiratory disorders. Different landmarks were defined (extension of the tongue, thickness of the pharynx, hyoid bone-thyroid cartilage distance, extension of the geniohyoid muscle) which should be measured sonographically. RESULTS: A total of 155 patients were enrolled and assigned to one of five groups (control; rhonchopathy; mild, moderate, and severe OSA). There were significant differences in the parameters for measuring tongue size, the distance between the hyoid bone and thyroid cartilage, and the thickness of the pharynx between the groups. CONCLUSION: As part of this sonographic assessment of the upper respiratory tract, landmarks could be identified in patients with OSA that correlated with the severity of the disease.

Macrostomia: The defining feature of the oculo-auriculo-vertebral spectrum / Macrostomia: la característica definitoria del espectro oculo-auriculo-vertebral

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Transoral Point-of-Care Ultrasound in the Diagnosis of Parapharyngeal Space Abscess.

BACKGROUND: Parapharyngeal space abscesses (PPSA) are deep-space neck infections that are associated with significant morbidity and, rarely, mortality if not promptly diagnosed and treated. The diagnosis is often difficult, as the clinical presentation can mimic peritonsillar abscesses (PTA). Transoral point-of-care ultrasound (POCUS) may be a useful tool to help distinguish PTAs from other deep-space infections such as PPSAs. CASE REPORT: A woman presented to the Emergency Department (ED) with fever, sore throat, trismus, and unilateral tonsillar swelling from a walk-in clinic with a preliminary diagnosis of PTA for drainage. A POCUS performed by the emergency medicine resident in the ED demonstrated normal tonsils. However, it revealed evidence of a PPSA. A computed tomography scan was performed, which confirmed the diagnosis. The patient was admitted to the otolaryngology service for antibiotics and steroids, with subsequent improvement and discharge home. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: In this case, the use of POCUS in the ED avoided an unnecessary invasive procedure, and facilitated the correct diagnosis of an uncommon condition.

Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.

Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. This study aimed to better define the ear-nose-throat (ENT) phenotype of 22q11.2DS patients, in the attempt to best detect subjects requiring subspecialist intervention. We enrolled 25 patients affected with 22q11.2DS. Anatomic and functional ENT findings were investigated using clinical, laboratory, and instrumental data. Immunophenotype and frequency of infections were evaluated. Univariate and multivariate analyses were performed. ENT anomalies were found in 88% of patients, and in 20% congenital palate defects required surgery. Adenoid or palatine tonsil hypertrophy was noted in 80% and 48%. Forty-eight percent of subjects had rhinolalia/phonia, severe in half of these. We also found nasal regurgitation or laryngeal penetration/aspiration in 20% and 16%, respectively. Instrumental exams revealed a mild conductive hearing loss in 32% (bilateral in most cases), tympanometric anomalies in 28%, and swallowing abnormalities in 16%. Statistical univariate analysis showed a direct association between rhinolalia/phonia and episodes of laryngeal aspiration (p = .016) and between tympanometric anomalies and increased adenoid volume (p = .044). No association between episodes of food aspiration and palatal anomalies was found. Moreover, no statistically significant association was observed between the number of airway infections and the ENT findings. This study contributes to better define the ENT phenotype in patients with 22q11.2DS, helpful to prevent potential complications. Furthermore, the identification of a subcategory of patients may allow the early adoption of specific speech therapy programs to improve the clinical outcome of 22q11.2DS patients.

Deficiency of the Wnt receptor Ryk causes multiple cardiac and outflow tract defects.

Ryk is a member of the receptor tyrosine kinase (RTK) family of proteins that control and regulate cellular processes. It is distinguished by binding Wnt ligands and having no detectable intrinsic protein tyrosine kinase activity suggesting Ryk is a pseudokinase. Here, we show an essential role for Ryk in directing morphogenetic events required for normal cardiac development through the examination of Ryk-deficient mice. We employed vascular corrosion casting, vascular perfusion with contrast dye, and immunohistochemistry to characterize cardiovascular and pharyngeal defects in Ryk-/- embryos. Ryk-/- mice exhibit a variety of malformations of the heart and outflow tract that resemble human congenital heart defects. This included stenosis and interruption of the aortic arch, ventriculoarterial malalignment, ventricular septal defects and abnormal pharyngeal arch artery remodelling. This study therefore defines a key intersection between a subset of growth factor receptors involved in planar cell polarity signalling, the Wnt family and mammalian cardiovascular development.

Growth and Development of Craniofacial Structures in Patients at Different Ages With Unrepaired Submucous Cleft Palate.

PURPOSE: Submucous cleft palate (SMCP) is a particular subtype of cleft palate deformity; research related to the craniofacial features of patients with SMCP is comparatively rare. The study objective was to perform a cephalometric comparison of the craniofacial features of patients with SMCP and non-cleft controls at different ages. MATERIALS AND METHODS: The sample in this cross-sectional study was composed of 2 groups: SMCP patients and non-cleft controls. The primary predictor variables were study group (cleft and non-cleft) and age. Age was divided into 3 groups. The outcome variables of interest were craniofacial measurements. The measurements used reflect cranial length, cranial angle, maxillary sagittal length and protrusion, maxillary vertical height, pharyngeal depth, facial height, mandibular length and protrusion, mandibular plane angle, and intermaxillary relation. Adjusted cephalometric craniofacial measurements between the groups were compared in 3 age groups using generalized linear models after being adjusted for age and gender. RESULTS: The study included 60 SMCP patients and 60 non-cleft controls. SMCP patients and non-cleft controls were divided into 3 subgroups: those aged 5 to 7 years, those aged 9 to 11 years, and those aged 18 to 30 years. Patients with SMCP at age 5 to 7 years showed a shortened cranial base length, maxillary sagittal length and height, and bony pharynx depth. Patients with SMCP at age 9 to 11 years showed a smaller maxillary sagittal length and bony pharynx depth and an inharmonious jaw relationship. Patients with SMCP at age 18 to 30 years showed a smaller maxillary sagittal length and height and an inharmonious jaw relationship. CONCLUSIONS: SMCP is associated with progressive maxillary retrognathism and reduced profile convexity from childhood to adulthood.

Removal of ear, nose and throat foreign bodies: A review

BACKGROUND: Patients with foreign bodies in their ear, nose or throat typically present to general practitioners. The safe and timely removal of foreign bodies ensures good patient outcomes and limits complications. OBJECTIVES: The aim of this paper is to outline common foreign objects and review the associated anatomy that may make removal difficult. A description of instruments and indications for use is provided, along with circumstances where specialist referral is warranted. DISCUSSION: The use of appropriate techniques for removal of foreign bodies reduces the complications of removal and associated distress, and limits the number of cases that require surgical input.

Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency.

AIM: To find out if subjects with 22q11.2 deletion syndrome (DS) have a different velopharyngeal anatomy which could cause velopharyngeal insufficiency (VPI). METHODS: A prospective study of 16 subjects >16 years of age with 22q11.2 DS, without overt cleft palate and without previous VPI surgery, and 48 healthy controls >18 years of age were included in the study. Speech was recorded and scored blindly by two independent senior speech therapists. All 64 individuals had MRI scans, which were analyzed blindly by a consultant radiologist. RESULTS: Subjects with 22q11.2 DS had a mild degree of weak pressure consonants (mean score); borderline to mild degree of hypernasality and audible nasal emission (mean score). All controls had normal speech. When comparing subjects (22q11.2 DS) to controls, we found the subjects to have the following: A shorter distance between left and right points of origin of the levator veli palatini muscle (LVP) (p < 0.0001); a more obtuse angle of origin of the LVP (bilaterally) (p < 0.009); a thinner LVP bilaterally and in the midline (p < 0.0001); a shorter LVP bilaterally (p < 0.0001); a shorter velum (p = 0.007); a larger osseous pharyngeal depth:velar length ratio (p = 0.01); a more obtuse anterior cranial base angle (nasion to sella to basion) (p < 0.0001) and posterior cranial base angle (sella to basion to foramen magnum) (p < 0.0001); a wider velopharyngeal width (p = 0.002) and a larger pharyngeal airway volume (p = 0.0007). CONCLUSION: Compared with healthy controls, adults with 22q11.2 DS showed a different velopharyngeal anatomy, which will make these individuals more prone to VPI.

Congenital pharyngeal webs: Treatment of a rare clinical entity by endoscopic CO2 laser approach.

IMPORTANCE: Oesophageal inlet stenosis can promote dysphagia and aspiration. We report the cases of syndromic children with congenital pharyngeal webs successfully treated with endoscopic CO2 laser. OBSERVATIONS: Pharyngeal webs were excised with CO2 laser (Ultrapulse mode) and resurfaced using mucosal advancement flaps to avoid restenosis and/or formation of secondary synechia. This led to a significant enlargement of the oesophageal inlet, which was documented immediately postoperatively and the clinical improvement of dysphagia and decreased aspiration persisted at distant follow-up. CONCLUSION AND RELEVANCE: Pharyngeal webs are congenital anomalies that can be safely and effectively corrected with endoscopic treatment.

A frog in the throat?

CLINICAL INTRODUCTION: A 44-year-old woman, with an unremarkable medical history, presented in the middle of the night with discomfort in her throat. She described being assaulted by an assailant who put his 'fist in her mouth', trying to suffocate her. On examination, she had normal observations and no signs of injury, other than scratch marks around her mouth; she reported no odynophagia and was able to swallow fluids readily. During examination, she complained that lying flat made her increasingly uncomfortable and was causing burgeoning dyspnoea. She had lateral soft tissue radiography of her neck as shown in figure 1.emermed;34/10/676/EMERMED2016205919F1F1EMERMED2016205919F1Figure 1Lateral neck soft tissue radiograph of the 44-year-old woman. QUESTION: What is the diagnosis? Caustic stricture of the oesophagusPharyngeal perforationPharyngeal pouchBoerhaave's syndrome.

Influence of pharyngeal airway respiration pressure on Class II mandibular retrusion in children: A computational fluid dynamics study of inspiration and expiration.

OBJECTIVES: To examine the influence of negative pressure of the pharyngeal airway on mandibular retraction during inspiration in children with nasal obstruction using the computational fluid dynamics (CFD) method. SETTING AND SAMPLE POPULATION: Sixty-two children were divided into Classes I, II (mandibular retrusion) and III (mandibular protrusion) malocclusion groups. MATERIAL AND METHODS: Cone-beam computed tomography data were used to reconstruct three-dimensional shapes of the nasal and pharyngeal airways. Airflow pressure was simulated using CFD to calculate nasal resistance and pharyngeal airway pressure during inspiration and expiration. RESULTS: Nasal resistance of the Class II group was significantly higher than that of the other two groups, and oropharyngeal airway inspiration pressure in the Class II (-247.64 Pa) group was larger than that in the Class I (-43.51 Pa) and Class III (-31.81 Pa) groups (P<.001). The oropharyngeal airway inspiration-expiration pressure difference in the Class II (-27.38 Pa) group was larger than that in the Class I (-5.17 Pa) and Class III (0.68 Pa) groups (P=.006). CONCLUSION: Large negative inspiratory pharyngeal airway pressure due to nasal obstruction in children with Class II malocclusion may be related to their retrognathia.

Risk factors for small pharyngeal airway dimensions in preorthodontic children: A three-dimensional study.

OBJECTIVE: To analyze which parameters, gathered from standard orthodontic diagnostic material, were most relevant for identifying small pharyngeal airway dimensions in preorthodontic children. MATERIALS AND METHODS: The sample was composed of 105 cone beam computed tomography scans of healthy preorthodontic children (44 boys, 61 girls; mean age, 10.7 ± 2.4 years). Airway volume and minimal cross-sectional area were three-dimensionally assessed. Cephalometric features and skeletal maturity were assessed on generated two-dimensional cephalograms. Associations were analyzed and adjusted for age, gender, and skeletal maturity by multiple regression analyses. RESULTS: Airway volume and minimal cross-sectional area were significantly smaller in prepubertal children (P < .001, P < .05, respectively) and positively associated with age (P < .001, P < .01, respectively). After adjustment of age, skeletal maturity and gender significant associations were found between pharyngeal airway dimensions and craniofacial morphology. Airway volume was positively associated with maxillary and mandibular width (P < .01; P < .001, respectively) and anterior face height (P < .05; P < .05, respectively). Minimal cross-sectional area was positively associated with maxillary and mandibular width (P < .01; P < .001, respectively) and negatively associated with sagittal jaw relationship (AnPg, P < .05). Mandibular width and age were the most relevant factors for airway volume (r2 = 0.36). Mandibular width and sagittal jaw relationship were the most relevant factors for minimal cross-sectional area (r2 = 0.16). CONCLUSION: Pharyngeal airway dimensions were significantly associated with age, skeletal maturity, and craniofacial morphology in all three planes. Children with a reduced mandibular width and increased sagittal jaw relationship are particularly at risk of having small pharyngeal airway dimensions.

Comparative Evaluation of the Pharyngeal Airways and Related Soft Tissues of Unilateral and Bilateral Cleft Lip and Palate Patients With the Noncleft Individuals.

AIM: This study is a comparison of pharyngeal airways and associated soft tissues of unilateral and bilateral cleft lip and palate patients with the noncleft individuals. MATERIALS AND METHODS: Twenty-four unilateral cleft lip and palate patients (UCLP), 21 bilateral cleft lip and palate patients (BCLP), and 26 noncleft patients (NC) between ages 15 to 17 were included in the study. Eleven linear, 1 angular, and 1 proportional measurements were carried out on pretreatment lateral cephalometric head films of these individuals. RESULTS: The nasopharyngeal depths were markedly reduced in BCLP when compared with the NC (P < .001) and UCLP (P < .01) with a significant difference (P < .01) also among UCLP and NC. Minimum space behind the tongue concerning BCLP and UCLP were significantly lower compared to the NC (P < .001 and P < .01, respectively). In pairwise comparison among the clefts, BCLP showed significant (P < .05) narrowing of this distance. Tongue heights and velar lengths were significantly (P < .001) lower in cleft groups compared to the controls. Similarly, the hyoid bone was positioned in a significantly (P < .01) anterior and inferior direction in cleft patients. Comparison of the mean ratio of velar length to nasopharyngeal depth of the three groups revealed significant (P < .001) inadequacies in cleft patients with significantly (P < .05) more severely reduced values in BCLP. CONCLUSION: Pharyngeal airways and involved soft tissues of cleft patients show serious inadequacies compared to controls, with significant diversities among cleft types pertaining to some of the parameters investigated. It should be kept in mind that these variations can influence function in terms of respiration and phonation.