[Ultrasound scan of a fetus with facial cleft must be done from the lip to the uvula]. / L'examen échographique d'un fœtus porteur d'une fente faciale doit se faire depuis la lèvre supérieure jusqu'à la luette.

Facial cleft are the most frequent craniofacial anomalies with an incidence of one for 1000 births, all births combined, and require specialized multidisciplinary care. Since 2005, the systematic realization of two ultrasound views (nose-lip and profile) is recommended for the exploration of the fetal face in the 2nd trimester of pregnancy. Application of these recommendations should allow screening of the majority of cleft lip and palate. However, cleft palates, without labiomaxillary involvement, are currently largely underdiagnosed at prenatal ultrasound, although they can be associated with a syndromic diagnosis in up to 30% of cases. The aim of this work is to describe, from embryology to surgical consultation, the complete ultrasound examination of a fetus with a classic facial cleft.

The association of OSAS and uvula: the role of MRI in this egg-chicken problem in OSAS.

PURPOSE: Obstructive sleep apnea syndrome (OSAS) is a condition resulting from repetitive partial or complete upper airway obstruction, and its etiology remains uncertain. Polysomnography is the gold standard diagnostic test for OSAS. However, there are long wait times for this evaluation, so questionnaires or ancillary diagnostic methods are used to select appropriate patients. One of these is magnetic resonance imaging (MRI). The present study aimed to investigate the association between clinical features of OSAS and uvular changes on MRI. MATERIALS AND METHODS: A total of 102 participants, 80 with OSAS and 22 controls, were included in the study. All participants underwent full-night polysomnography, MRI, and anthropometric measurements. RESULTS: In comparisons of MRI measurements of the uvula, statistically significant differences in uvular length, thickness, and angle were observed between the OSAS and control groups. MRI measurement significantly associated with apnea-hypopnea index was uvular thickness. Evaluation of anthropometric and MRI measurements revealed statistically significant associations between waist circumference and uvular thickness, uvular width, and oropharyngeal space among the OSAS patients. CONCLUSION: Thickened uvula on MRI is associated with the presence of OSAS, and its thickness is well correlated with the severity of the diseases. Thus, it may be a reliable indicator of OSAS and could be used as a supportive finding to identify patients suitable for referral for diagnostic polysomnography.

[The effect of genioglossus activity to velopharyngeal surgery in patient with obstructive sleep apnea hypopnea syndrome].

Objective: To investigate the effect of genioglossus (GG) activation at sleep onset on the outcome of velopharyngeal surgery in obstructive sleep apnea hypopnea syndrome (OSAHS) patients. Methods: Thirty-five patients between April 2014 and February 2015 in Beijing Tongren Hospital with OSAHS underwent overnight polysomnography with synchronous genioglossus electromyography (GGEMG) using intraoral electrodes. The upper airway (UA) anatomy was evaluated by three-dimensional computer tomography (3D-CT) in OSAHS patients. Then, all of the patients received velopharyngeal surgery, including revised uvulopalatopharyngoplasty (UPPP) with uvula preservation or UPPP combined transpalatal advancement pharyngoplasty. All patients were followed-up using polysomnography 3-6 months after surgery. T-test or Wilcoxon test were used to compare the variables between groups, and Spearman correlation analysis was used to test the correlation between parameters. Results: Thirty-five patients received velopharyngeal surgery. Twenty-two patients (62.86%) were responders, and 13 patients (37.14%) were non-responders. Responders had a higher mean GGEMG during sleep onset (15.31±3.74 vs. 9.92±2.93, t=4.504, P=0.001). The decreased AHI was significantly positively related to the sleep onset mean GGEMG (r=0.541, P=0.004) and the change in GGEMG (r=0.422, P=0.028). The decreased AHI was significantly negatively related to the minimal cross sectional airway area (mCSA,ρ=0.629,P=0.000) and the minimal lateral airway dimension (mLAT, ρ=0.484, P=0.009) at velopharynx. Conclusions: The outcome of velopharyngeal surgery was affected by the mean GGEMG during sleep onset. We speculated that the patient with higher GGEMG at sleep onset and narrower velopharynx were more suitable candidates for velopharyngeal surgery.

Morphology of the Musculus Uvulae In Vivo Using MRI and 3D Modeling Among Adults With Normal Anatomy and Preliminary Comparisons to Cleft Palate Anatomy.

PURPOSE: To investigate the musculus uvulae morphology in vivo in adults with normal velopharyngeal anatomy and to examine sex and race effects on the muscle morphology. We also sought to provide a preliminary comparison of musculus uvulae morphology in adults with normal velopharyngeal anatomy to adults with repaired cleft palate. METHODS: Three-dimensional magnetic resonance imaging data and Amira 5.5 Visualization Modeling software were used to evaluate the musculus uvulae in 70 participants without cleft palate and 6 participants with cleft palate. Muscle length, thickness, width, and volume were compared among participant groups. RESULTS: Analysis of covariance analysis did not yield statistically significant differences in musculus uvulae length, thickness, width, or volume by race or sex among participants without cleft palate when the effect of body size was accounted for. Two-sample t test revealed that the musculus uvulae in participants with repaired cleft palate is significantly shorter (P = .008, 13.65 mm vs 16.07 mm) and has less volume (P = .002, 51.08 mm3 vs 97.62 mm3) than participants without cleft palate. CONCLUSION: In adults with normal velopharyngeal anatomy, the musculus uvulae is a cylindrical oblong-shaped muscle lying on the nasal surface of the soft palate, with its greatest bulk located just nasal to the levator veli palatini muscle sling. In participants with repaired cleft palate, the musculus uvulae is substantially reduced in volume. This diminished muscle bulk located just at the point where the palate contacts the posterior pharyngeal wall may contribute to velopharyngeal insufficiency in children with repaired cleft palate.

Reducing upper airway collapse at lower continuous positive airway titration pressure.

During respiration, upper airway (UA) collapse occurs when the forces generated from the negative UA pressures exceed the forces produced by the UA muscles; which leads to loose soft tissue at the back of the mouth. At predetermined titration pressure, the Continuous Positive Airway Pressure (CPAP) normally provides a continuous pressurized and humidified air to prevent airway collapse. However, high titration pressures are not always tolerated by patients and may lead to damaging effects including stroke symptoms for cardiovascular disease patients. This paper hypothesizes that superimposed pressure oscillation can modulate the loose tissue and allow unblocking the upper airway passages to help reduce the required titration pressure. Using MRI scans, this paper investigates the effects of using pressure oscillations superimposed on the CPAP to keep the airway open at lower pressure distributions inside the upper airway and consequently increase the patients' comfort and reduce their rejection to the CPAP.

Dynamic Drug-Induced Sleep Computed Tomography in Adults With Obstructive Sleep Apnea.

Surgical success for obstructive sleep apnea (OSA) depends on identifying sites of obstruction in the upper airway. In this study, we investigated sites of obstruction by evaluating dynamic changes in the upper airway using drug-induced sleep computed tomography (DI-SCT) in patients with OSA. Thirty-five adult patients with OSA were prospectively enrolled. Sleep was induced with propofol under light sedation (bispectral index 70-75), and low-dose 320-detector row CT was performed for 10 seconds over a span of 2-3 respiratory cycles with supporting a continuous positive airway pressure model. Most (89%) of the patients had multi-level obstructions. Total obstruction most commonly occurred in the velum (86%), followed by the tongue (57%), oropharyngeal lateral wall (49%), and epiglottis (26%). There were two types of anterior-posterior obstruction of the soft palate, uvular (94%) and velar (6%), and three types of tongue obstruction, upper (30%), lower (37%), and upper plus lower obstruction (33%). DI-SCT is a fast and safe tool to identify simulated sleep airway obstruction in patients with OSA. It provides data on dynamic airway movement in the sagittal view which can be used to differentiate palate and tongue obstructions, and this can be helpful when planning surgery for patients with OSA.

Gender-related difference in the upper airway dimensions and hyoid bone position in Chinese Han children and adolescents aged 6-18 years using cone beam computed tomography.

OBJECTIVE: To investigate the gender-related differences in upper airway dimensions and hyoid bone position in Chinese Han children and adolescents (6-18 years) using cone-beam computed tomography (CBCT). MATERIALS AND METHODS: CBCT-scans of 119 boys and 135 girls were selected and divided into four groups (group 1: 6-9 years; group 2: 10-12 years; group 3: 13-15 years; group 4: 16-18 years). The airway dimensions including the cross-sectional area (CSA), anteroposterior (AP) and lateral (LAT) width, length (L), mean CSA and volume (VOL) of upper airway segmentations and hyoid bone position including 11 linear and three angular measurements were investigated using Materialism's interactive medical image control system (MIMICS) 16.01 software. Gender-related differences were analyzed by two independent sample t-tests. RESULTS: No gender-related difference was found in values of the facial morphology, airway dimensions and hyoid bone position for group 1 (p > 0.05). The children and adolescents in groups 2, 3 and 4 showed significant gender-related differences in the measurement results of facial morphology, airway dimensions and hyoid bone positions (p < 0.05). What's more, the measurement values of boys were obviously larger than those of girls except some measurements in group 2. CONCLUSIONS: The measurements of airway dimensions and hyoid bone positions have gender-related differences in children and adolescents aged 10-18 years. These results could be taken into consideration during orthodontic diagnosis and treatment.

Comparison of the effects of mandibular protruding devices on obstructive sleep apnoea patients and healthy volunteers.

PURPOSE: To evaluate upper airway diameter differences before and after placement of custom made mandible protruding devices (MPD) in OSAS group and to compare with control group using computerized tomography. METHODS: The OSAS group was composed of 15 patients aged from 25 to 45 years with mild-moderate OSAS and the control group included 15 healthy volunteers, aged from 25 years to 44 years. On coronal and sagittal reformated CT images, anteroposterior (AP) and lateral (LAT) diameters at three levels (passing through soft palate [level 1], 5 mm above uvula [level 2] and 1 cm above the tip of epiglottis [level 3]) were measured before and after MPD placement in both groups. RESULTS: LAT diameters at level 1, level 2 and AP diameter at level 2 in OSAS group were significantly lower than in control group before MPD placement. Only LAT diameters at level 2 in OSAS group were significantly lower than in control group after MPD placement. When we compared upper airway diameters before and after placement of the MPD within each group, statistically significant increase in diameters at all levels were observed. CONCLUSION: MPD is a cheap, easily usable device providing increase in upper airway diameters.

Facial cleft detected: is the palate normal?

Despite advances in ultrasound technology, the sensitivity for detection of facial clefts at the routine mid-trimester details scan remains relatively poor. This can be improved by the use of a three-point ultrasound screening protocol, although this is not routine in many countries. When a facial cleft is suspected at the routine scan, further imaging is usually required to detail the extent of the cleft and presence or absence of any other abnormalities. Involvement of the fetal palate is an important finding that will determine the requirement for surgery, audiology, and orthodontic services well into teenage years. There remains little uniformity in how a facial cleft is described antenatally, with involvement of the alveolar ridge frequently and incorrectly taken to mean involvement of the palate. Further, midline clefts of the hard and soft palates, where the fetal lips and alveolar ridge are intact, are a feature of many genetic conditions, but are almost never diagnosed by prenatal ultrasound. In this chapter, we detail issues surrounding the nomenclature of facial clefts in relation to the palate, and describe some of the more commonly used two-dimensional and three-dimensional methodologies for imaging the fetal palate.

Changes in the upper airway after counterclockwise maxillomandibular advancement in young Korean women with class II malocclusion deformity.

PURPOSE: To evaluate the change in the upper airway in a Class II malocclusion deformity after counterclockwise maxillomandibular advancement. MATERIALS AND METHODS: Seventeen young Korean women with a Class II malocclusion deformity who had undergone Le Fort I and bilateral mandibular ramus sagittal split osteotomy in a counterclockwise rotation were enrolled in the present study. The upper airway was measured at 3 different levels (uvula tip, low C2, and mid C3) using lateral cephalograms at 3 points: preoperatively (T0) and 2 (T2) and 12 (T12) months postoperatively. The changes in the upper airway were then compared. RESULTS: The mandible advanced an average of 7.0 ± 3.8 mm. The upper airway had widened considerably at all 3 levels at T2 and had decreased slightly at T12, especially at the low C2 level compared with T0. However, the upper airway at T12 remained wider than at T0 at all 3 levels. The mandibular advancement and upper airway width correlated only at T12 at the mid C3 level. CONCLUSIONS: The upper airway became wider in patients with a Class II malocclusion deformity who had undergone mandibular advancement. However, this might become narrower with time.

Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark.

PURPOSE: The prenatal ultrasound visualization of the soft palate and especially the uvula may be technically difficult due to its anatomy and presence of surrounding structures. A cleft involving the soft palate and the uvula is one of the clinical features of Stickler syndrome, a rare connective tissue disorder. MATERIALS AND METHODS: Third trimester scan performed at 30 weeks' gestation in a pregnant woman with a familial history of Stickler syndrome using conventional 2D ultrasound. RESULTS: Transabdominal scan performed with the fetal head in oblique plane and following fetal swallowing movements enabled a previously unrecognized median cleft at the level of the uvula. Molecular biology analysis allowed a precise prenatal diagnosis of Stickler syndrome and excluded overlapping syndrome. CONCLUSIONS: The prenatal ultrasound diagnosis was achieved time before the "equals signs" was proposed as a useful sonographic marker of a normal uvula. The identification of a bifid uvula by conventional 2D ultrasound led to a prenatal diagnosis of Stickler syndrome in this affected Family and allowed the neonatologist team to be available at the time of birth. Moreover, postnatal multispecialist follow up could be timely planned for targeted organ examination and appropriate management.

[The study of the diagnostic value of 64-slice CT in obstructive sleep apnea hypopnea syndrome in Müller maneuver].

OBJECTIVE: To examine the location, extent and cause of collapsed airway in Müller maneuver in OSAHS patients with CT scan, and provide the evidence for surgery. METHOD: Thirty patients with moderate or severe OSAHS were measured with 64 slice CT in quiet breathing and in Müller maneuver. After three-dimensional reconstruction and virtual endoscope handing of the upper airway, we compare the cross-section area and the dimensions of five levels as well as the thickness of retropharyngeal and lateral pharyngeal tissue in two conditions. The evaluation values include the length and thickness of soft palate and uvula, soft-hard palate angle and hyoid hard palate distance. RESULT: The lateral distance, anterior - posterior distance, cross - sectional area, but AP of RG and EPG region, were statistically different in quiet breathing and in Müller maneuver. The thickness of retropharyngeal and lateral pharyngeal tissue were statistically different in two conditions, and the length and thickness of soft plate and uvula, soft-hard angle and hyoid hard palate distance were statistically different. CONCLUSION: Three-dimensional reconstruction and virtual endoscope of 64 slice CT can clearly show the location, extent and cause of occlusion of the upper airway, which helps well clinical application.

Occult squamous cell carcinoma of the uvula detected by F-18 FDG PET/CT in a case of carcinoma of unknown primary in the head and neck.

Incidence of unknown primary head/neck tumors with metastatic cervical lymphadenopathy at time of diagnosis is approximately 2% to 9%. Detecting site of original disease is challenging. We present a 75-year-old woman with bulky unilateral level 2 and 3 lymphadenopathy. Clinical examination and computed tomography (CT) did not reveal detectable abnormalities except neck-node metastases; biopsy indicated metastatic squamous cell carcinoma (SCC). F-18 FDG PET/CT imaging was performed to detect the primary tumor site, which revealed a small metabolically-avid lesion in uvula, biopsy demonstrated SCC, the origin of metastatic disease. F-18 FDG PET/CT imaging of unknown primary head/neck tumors can have positive impact in identifying small occult primary tumor foci.

The 'equals sign': a novel marker in the diagnosis of fetal isolated cleft palate.

OBJECTIVES: To determine the feasibility of visualization of the uvula and the soft palate during routine two-dimensional (2D) ultrasound examination and to develop a sonographic procedure that facilitates prenatal detection of isolated fetal cleft palate. METHODS: We examined 667 consecutive patients with a singleton pregnancy between 20 and 25 weeks of gestation who were referred to our practice for a detailed fetal anomaly scan. The uvula was visualized either in a frontal section through the neck and pharynx or via a transverse section with subsequent slight tilting of the transducer. The soft palate was visualized in a median sagittal section through the head. To test whether the techniques described are suitable for inclusion in routine examinations, the time allowed for a normal ultrasound scan was not changed from 30 min. RESULTS: A normal uvula could be visualized with a typical echo pattern (the 'equals sign') in 90.7% of the cases and the soft palate could be completely visualized in a median sagittal section in 85.3% of the cases. Visualization of at least one of the two structures (either the uvula or the soft palate) was successful in 98.4% of the cases. In one case an isolated cleft palate (in an otherwise normal fetus) was diagnosed; in one case with a cleft lip and palate, the cleft palate and the completely split uvula were detected. In 1.2% of the cases the examination did not provide sufficient information on either the uvula or the soft palate. CONCLUSIONS: In a high percentage of cases, relevant soft palate structures can be visualized successfully with 2D ultrasound, permitting cleft palate to be ruled out in routine examinations. Visualization of the equals sign proves an intact palate. Absence of the equals sign indicates cleft palate and should prompt further examination of the soft palate in a median sagittal section. Cleft palate can be confirmed when the soft palate cannot be visualized. This technique also facilitates evaluation of the soft palate in the event of a cleft lip and palate.

Effects of mandibular advancement on upper airway dimension and collapsibility in patients with obstructive sleep apnea using dynamic upper airway imaging during sleep.

OBJECTIVES: The objective of this study was to evaluate the effects of mandibular advancement on oropharyngeal dimension and collapsibility and reveal the predominate site of change produced by mandibular advancement in patients with obstructive sleep apnea (OSA). STUDY DESIGN: Sixteen adults (13 males and 3 females) with symptomatic mild to severe OSA participated. Custom-made silicone mandibular positioners were used to keep the mandible at 67% of maximum advancement. Changes in the oropharyngeal size and collapsibility with mandibular advancement were evaluated using ultrafast computed tomography taken during wakefulness and midazolam-induced sleep. Cross-sectional areas were assessed using electron beam tomography at 4 levels: high retropalatal (HRP), low retropalatal (LRP), high retroglossal (HRG), and low retroglossal (LRG). RESULTS: During sleep, the minimum cross-sectional areas decreased 36.5%, 67.8%, 75.5%, and 65.8% at each level of HRP, LRP, HRG, and LRG respectively, as compared with those measured during wakefulness. Mandibular advancement during sleep increased 75.7%, 141.3%, 128.1%, and 119.9% at each level. The oropharynx showed 70.3%, 110.4%, 140.3%, and 156.9% increase in the Collapsibility Indices during sleep at each level of HRP, LRP, HRG, and LRG, respectively, compared with wakefulness. However, collapsibility indices decreased 29.1%, 23.2%, 21.4%, and 34.1% at each level with mandibular advancement. CONCLUSION: Mandibular advancement increases oropharyngeal diameter and decreases oropharyngeal collapsibility during midazolam-induced sleep respiration at the retropalatal as well as the retroglossal region in most patients with OSA.

Uvulopalatopharyngoplasty with an ultrasound scalpel or laser: is there a difference?

Uvulopalatopharyngoplasty (UPPP) is used for treatment of the obstructive sleep apnoea syndrome, mainly in the lower range of the apnoea-hypopnea index or partial upper airway obstruction. Significant severe pain after UPPP is associated in the area having surgery and therefore less pain causing methods should be investigated. In this study, we compared laser-assisted and ultrasound scalpel-performed UPPP. Sleep apnoea patients (n = 40) recruited to the study were divided into two groups. UPPP was performed with either laser-assisted or an ultrasound scalpel. Perioperative bleeding, operating room time and duration of operation together with histological injury of soft palate were analysed. A postoperative follow-up questionnaire included a self analysis of pain, dietary intake and pain drug consumption. In the same follow-up form, filled in by patients themselves, possible side effects and adequacy of pain medication together with any postoperative haemorrhage events were recorded during 10-day study period after UPPP. The ultrasound scalpel group had significantly fewer haemorrhagic events (P = 0.037) during postoperative follow-up time after UPPP when compared to laser-assisted group. The pain values of all 40 patients were significantly higher in the morning than in the afternoon (P < 0.001) or evening (P < 0.001). Pain increased up to the fifth postoperative day (visual analogue scale, VAS = 46). The significant relief of pain to the mild level (VAS < 30 mm) occurred at ninth and tenth postoperative day. The ultrasound scalpel used as a surgical method in UPPP did not offer significant comprehensive benefits in this study compared to laser-assisted UPPP. Exclusively, postoperative haemorrhage events were minor, paralleling findings of previous studies where ultrasound scalpel had been used for tonsillectomy. We conclude that the ultrasound scalpel is comparable to laser-assisted UPPP.

Examination of the secondary palate on stored 3D ultrasound volumes of the fetal face.

OBJECTIVES: To examine the use of oblique planes from stored three-dimensional (3D) ultrasound volumes of the fetal face for viewing the secondary palate at various gestational ages. METHODS: 3D ultrasound volumes of the fetal face acquired with surface rendering at 15-35 weeks' gestation in 31 fetuses with confirmed normal secondary palates were reviewed. The secondary palate was viewed in three oblique planes targeted at the uvula: the oblique axial, the oblique sagittal and the reverse face view. The detection and appearance of the secondary palate, including the soft palate, with these views at various gestational ages were compared. RESULTS: The various surfaces of the secondary palate could be viewed in all 31 fetuses in the oblique axial and the reverse face views, and in all except two fetuses in the oblique sagittal view. Both of these were < 19 weeks' gestation, at which age the uvula could not be identified clearly in this plane. CONCLUSIONS: The oblique axial, the oblique sagittal and the reverse face view targeted at the uvula allow visualization of the various aspects of the fetal secondary palate on 3D ultrasound in the second and third trimesters of pregnancy. The uvula could be used as a landmark for viewing the soft palate, but was not always easily identifiable before 19 weeks' gestation.