Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc.

URGENT X-RAY DIAGNOSTICS OF INTRACRANIAL PYOINFLAMMATORY OTORHINOSINUSOGENIC COMPLICATIONS.

An analysis of the results of X-ray CT and MR-imaging was made in 46 patients aged from 13 to 78 years old. The patients were admitted to multifield hospitals in Kursk at the period from 2005 to 2015. The research included the nasal cavity, paranasal sinuses, mastoid and pyramid of the temporal bones and the brain. The study could be repeated with bolus contrast medium infusion. The condition of the patients was evaluated in dynamics at intervals of 5-7 days and these data was associated with clinical picture. The authors presents a complex of symptoms and an algorithm of differentiated X-ray diagnostics of diseases of the ENT organs and the main nosological forms of pyoinflammatory diseases of arachnoid membrane and substances of the brain.

Comparison of different computed tomography post-processing modalities in assessment of various middle ear disorders.

Several anatomic structures of the middle ear are not optimally depicted in the standard axial and coronal planes. Several 2D and 3D image-processing modalities are currently available for CT examinations in clinical radiology departments. Till now 3D reconstructions of the temporal bone have not been widely used yet, and attracted only academic interest. The aim of this study was to compare axial (source images), 2D and 3DCT post-processing modalities, and to evaluate the value of 3D reconstructed images/virtual endoscopy (VE) in assessment of various middle ear disorders for identification of the best modality/view for assessment of a particular middle ear structure or pathology. 40 patients with various middle ear disorders, planned for surgical intervention were included in prospective study. Multi-slice CT was performed for all patients. Scans were acquired in the axial plane. The axial source datasets were utilized for generation of 2D reformations and 3D reconstructed images. All studied images were divided into three categories: axial (source images), 2D reformations (MPR and sliding-thin-slab MIP) and 3D reconstruction (virtual endoscopy). The visibility of middle ear structures and pathologies with each modality were scored qualitatively using three-point scoring system in reference to operative findings. Stapes superstructure and footplate, incudostapedial joint, oval and round windows, tympanic segment of the facial nerve and tegmen were not optimally depicted in the axial plane. Sinus tympani and facial recess were best visualized with axial images or VE. 3D reconstruction/VE allowed good visualization of all parts of ossicular chain except stapes superstructure. Regarding pathologic changes, 2D reformations and 3D reconstructed images allowed better visualization of erosion of ossicles and tegmen. 3D reconstruction/VE did not allow detection of foci of otospongiosis. 2D reformations can be considered the mainstay in assessment of most middle ear structures and pathologies. 3D reconstruction/VE seems to provide a useful method for a preoperative general overview of the middle ear anatomy, particularly for the ossicular chain, round window and retrotympanum.

Variant Types of Preauricular Sinuses: Classifications, Clinical Presentation and Management.

OBJECTIVE: To make surgeons aware of the differing types of preauricular sinuses (PAS), we summarize our experience with diagnosis and treatment of varying types of PAS. METHODS: We retrospectively reviewed clinical data from patients who had undergone preauricular fistulectomy between March 2015 and March 2020. These patients were categorized into two groups according to locations of congenital fistula pit. RESULTS: Twelve patients with variant PAS accounted for 6.8% (12/177) of all patients. The variant types of PAS could be classified into three types (from type 1 to type 3), based on the location of the fistula pit. Type 1 (seven patients; eight ears) patients had pits located on the ascending helix crus, whereas type 2 (four patients, four ears) and type 3 (one patient, one ear) patients had pits located on the external auditory canal (EAC) and lobule, respectively. Fistular tracts penetrated the cartilage of the helix crus in seven of the type 1 variant ears. Swelling and discharge were located at the ascending helix crus (in four ears), cavum concha (in two ears), and posterior to the auricle (in one ear). In four of the type 2 ears, the fistular tracts were located at the anterior margin of the ascending limb of the helix. CONCLUSION: Fistula tracts where fistula pit occurred on the ascending helix crus were more likely to penetrates through the cartilage, and fistula tracts with fistula pits that occurred on the EAC were adjacent to the cartilage of the ascending helix and tragus. Meticulous dissection and complete removal of fistula tissue are critical to avoid postoperative recurrence. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:3839-3845, 2024.

Applying one-vs-one and one-vs-all classifiers in k-nearest neighbour method and support vector machines to an otoneurological multi-class problem.

We studied how the splitting of a multi-class classification problem into multiple binary classification tasks, like One-vs-One (OVO) and One-vs-All (OVA), affects the predictive accuracy of disease classes. Classifiers were tested with an otoneurological data using 10-fold cross-validation 10 times with k-Nearest Neighbour (k-NN) method and Support Vector Machines (SVM). The results showed that the use of multiple binary classifiers improves the classification accuracies of disease classes compared to one multi-class classifier. In general, OVO classifiers worked out better with this data than OVA classifiers. Especially, the OVO with k-NN yielded the highest total classification accuracies.

Attic retraction pockets: Classification system.

INTRODUCTION: Although attic retractions have previously been classified into Grades 0 through IV, it is often not possible to assign attic retraction pockets into a single specific category. The present study describes an improved classification system based on otoscopic and endoscopic visualization of the retraction pocket fundus, the ossicular status in the attic, degree of scutal erosion, and the presence or absence of cholesteatoma. MATERIALS AND METHODS: One hundred and fifty-four patients (200 ears) with different grades of attic retraction pockets who were seen by a tertiary referral otology center between August 2015 and July 2018 were selected for this study. OBSERVATIONS: The new classification system (Grades I, IIa, IIb, IIIa, IIIb, IIIc, IVa, IVb, IVc, and V) was applied to these retraction pockets. Pure tone audiometry was obtained. RESULTS: All attic retraction pockets could be classified precisely using the new classification system. Forty-four of 200 (22%) of ears showed Grade I Attic retraction, 18 ears showed Grade IIa (9%), 14 showed Grade IIb (7%), 28 showed Grade IIIa (14%), 12 showed IIIb (6%), 20 showed Grade IIIc (10%), 16 showed grade IVa (8%), 12 showed grade IVb (6%), 28 showed grade IVc (14%), and eight showed grade V (4%) attic retraction pockets. Grades I, IIa, IIb, IIIa, and IVa had no significant hearing loss. Average hearing loss was 42 dB and 52 dB in Grades IIIb and IIIc, 44 dB and 58 dB in Grades IVb and IVc, and 61 dB in Grade V. LEVEL OF EVIDENCE: 5 Laryngoscope, 130: 2034-2039, 2020.

Basic techniques in autogenous microtia repair.

Although several techniques can be used for microtia repair, some standard procedures have been developed over the past few decades. In specialized centers, these techniques are performed most frequently. They include two to four operative steps using autogenous rib cartilage for the framework and local skin for its tegument. We have been using this technique presented here in more than 800 cases over the past two decades with good and mostly stable results.

The learning curve in microtia surgery.

Reconstruction of the auricle is known to be complex. Our objective was to evaluate the improvement of the outcome of the lobulus-type microtia reconstruction. Patient satisfaction was also evaluated. There are no previous reports of the learning process in this field. Postoperative photographs of 51 microtia reconstructions were assessed and rated by a panel made up of six surgeons. The ratings were gathered to generate learning curves. Twenty-two patients assessed the outlook of their reconstructed ears, and the results were analyzed as a self-assessment group. The reliability of the rating by a panel was tested by intraclass correlations. There is a highly significant increasing trend in learning ( P = 0.000001). This trend is not constantly upward, and the steady state was not reached during the study. In the self-assessment group, females were significantly more critical than males ( P = 0.014). Intraclass correlation for six panel members was 0.90, and the rating was considered reliable. Thus, a long and gentle learning curve does exist in microtia reconstruction. To secure good quality and continuity, centralization of the operations and trainee arrangements are highly advisable. Outcomes of plastic surgery can reliably be rated by an evaluation panel.

[Dehiscence of the superior semicircular canal: approach and CT scan classifications]. / Déhiscence du canal semi-circulaire supérieur: approche et classification scanographiques.

UNLABELLED: The syndrome of dehiscence of the superior semicircular canal (DCSS) is primarily associated with vertigo and/or hearing loss. The dehiscence may be completely asymptomatic and represent an incidental finding on radiological investigation. OBJECTIVES: To demonstrate the advantages of a volume rendered CT study of the petrous temporal bone of patients with hearing loss, and to demonstrate the effectiveness of its systematic application in the protocols of examination. To propose a radiological classification of DCSS with a therapeutic application. MATERIAL AND METHOD: The examination technique which was performed in incremental mode (axial and frontal sections) and in "volume rendered" mode, on a high resolution apparatus is described. The authors studied 154 scans of the petrous temporal bone obtained by this technique. They correlated the cases of DCSS with the indications for the radiological examination. Each 3d CT scan was studied and the type of fistula described. The authors propose a classification of fistulae into three types, depending on 3d CT scan appearance. RESULTS: Out of 154 CT scans of the petrous temporal bone (77 patients), 13 cases of DCSS were discovered. DCSS was bilateral in 4 cases. The primary indication for investigation was the assessment of conductive or mixed hearing loss. The "volumetric" technique was compared with standard imaging techniques and/or reconstructed images in the superior canal plane. The correlation was perfect in all the cases. The description of the fistulae allowed a classification into 3 types: Type I (symmetrical fistula, 8 cases); Type II (asymmetrical fistula, 3 cases) corresponding to the canal dome; Type III (2 cases) involving the foot of the canal. CONCLUSION: The increased frequency of DCSS in this series (prevalence of 17% against 0.5% in post mortem studies) is probably explained by the selection bias of the patients and also by the systematic application of this novel radiological technique. We propose to include this protocol in all CT scans of the temporal bone, particularly when investigating symptoms consistent with a syndrome of Minor or the Tullio phenomenom. This system of classification makes it possible to describe the fistula and to specify its location. This should prove to be a valuable aid for pre-operative planning and intra-operative localisation of the fistula.

The efficacy of the Eustachian Tube Dysfunction Questionnaire (ETDQ-7) for patulous Eustachian tube patient.

OBJECTIVE: To assess the efficacy of the Eustachian Tube Dysfunction Questionnaire (ETDQ-7) for patulous Eustachian tube (PET) patients. METHODS: A prospective survey of medical records identified 36 patients and 47 ears with PET, and 15 patients and 15 ears as control. The ETDQ-7, patulous Eustachian tube handicap inventory-10 (PHI-10) and Likert scale were evaluated. PET patients were divided into two groups based on severity of symptoms using the PHI score. RESULTS: The Cronbach α value of the PET group was 0.765. The average total score of the ETDQ-7 in the control group was 7.6 ± 1.1 and 22.5 ± 10.0 in the PET group (p < .01). No correlation was found between ETDQ-7 and Likert scale (r = 0.248, p = .09). The average total score of the ETDQ-7 in the mild or moderate PET group was 19.9 ± 9.0 and 25.3 ± 11.1 in the severe PET group and this was not statistically different (p = .08). CONCLUSION: The highest ETDQ-7 score was also observed in PET patients and in ET dysfunction patients. These findings necessitate careful discrimination between ET dysfunction and PET in balloon dilation Eustachian tuboplasty (BET) based on ETDQ-7.

The Erasmus atelectasis classification: proposal of a new classification for atelectasis of the middle ear in children.

OBJECTIVES: Atelectasis presents a challenging, often progressive, problem in children. Because of the lack of a clinically practical classification, we introduce a new classification, which in our opinion is more useful in the pediatric age group. This alternative classification enables a more clinically relevant correlation between stage of disease and clinical sequelae and technical difficulty at surgery. STUDY DESIGN: Observational study of patients seen and operated at the Sophia Children's Hospital in Rotterdam, The Netherlands between 1989 and 2005. METHODS: Based on clinical appearance, each ear was placed into one of the five groups of the proposed classification and into one of the four stages of Sadé's classification. Preoperative air and bone conduction thresholds and air-bone gaps (ABG) were calculated using the four-tone pure-tone (500, 1,000, 2,000, and 4,000 Hz) averages for bone and air conduction. RESULTS: : Of the 248 ears in the study group, 72 were in stage I, with an ABG of 18.2 +/- 12.3 dB. Twenty-two were in stage II, with an ABG of 12.9 +/- 9.5 dB. In stage III, there were 32 ears, with an ABG of 11.6 +/- 10.0 dB. Thirty-one ears were in stage IV, with an ABG of 16.1 +/- 11.5 dB. Eighty-five ears were in stage V, with an ABG of 26.1 +/- 13.3 dB. When grouped according to Sadé's classification, 92 ears could not be classified. CONCLUSIONS: We found the currently proposed classification more useful in that it follows the natural progression of the disease and is more practical in determining operative procedures at each stage.

Auditory symptoms in whiplash patients - could earwax occlusion be a benign cause?

BACKGROUND: Excess cerumen (earwax) in the external auditory canal is associated with symptoms of earache, fullness in the ears, and diminished hearing. These symptoms, and tinnitus, are commonly associated with whiplash injury. METHODS: Eighty-six whiplash patients were examined to determine if there was a correlation between symptoms of earache, fullness in the ear, diminished hearing, and tinnitus, and the degree of cerumen occlusion. Cerumen occlusion was measured by visualisation of the tympanic membrane and graded according to a 4 point scale. RESULTS: Of 71 subjects reporting no acute onset (within 7 days of the collision that caused their whiplash) earache, fullness in the ears, hearing loss, or tinnitus, 62 had little or no cerenum occlusion. Of seven subjects reporting tinnitus but no other auditory symptoms, none had greater than moderate cerenum occlusion. Of eight subjects reporting one or more of acute onset earache, fullness in the ears, diminished hearing, and tinnitus, seven had complete cerenum occlusion in the affected ear. DISCUSSION: The findings suggest high grade cerumen occlusion frequently occurs in the ear affected by acute auditory symptoms. However, tinnitus alone has no apparent association with cerumen occlusion. It is possible that a significant number of acute onset auditory symptoms reported in whiplash patients have a benign cause.

Classification of the external auditory canal cholesteatoma.

OBJECTIVES/HYPOTHESIS: The external auditory canal cholesteatoma (EACC) is a rare disease in the field of otolaryngology. Only 1 in 1,000 new otologic patients present with this entity, which was first described by Toynbee. The aim of this article is to classify EACC by different histopathologic and clinical findings of patients presenting to the Department of Otolaryngology at the University of Mannheim, Germany. METHODS: From 2000 to 2004, 17 patients presented to our clinic with EACC. The cholesteatoma were treated surgically, and the specimens were investigated histologically. Clinical findings were also recorded. We classified four stages: stage I with hyperplasia of the canal epithelium, stage II including periosteitis, Stage III including a defective bony canal, and stage IV showing an erosion of adjacent anatomic structure. RESULTS: Eight patients presented with stage II, five patients with stage III, three with stage I, and only one patient presented with erosion of the mastoid cells, which was determined as stage IV. CONCLUSION: In summary, our classification serves to describe the different histopathologic and clinical stages of EACC.

Medial canal fibrosis: surgical technique, results, and a proposed grading system.

OBJECTIVE: To report the hearing and surgical results in patients with medial canal fibrosis. To describe the surgical technique for removal of medial canal fibrosis and to propose a classification for grading postoperative surgical outcome and to correlate this with hearing results. SETTING: Tertiary university referral center. STUDY DESIGN: Retrospective case review. METHODS: Twenty-one patients with mature medial canal fibrosis underwent a total of 26 operations at our institution from February 1994 to June 2003. Four patients underwent surgery for bilateral disease and another had a second operation for recurrence. RESULTS: According to the proposed grading system, 10 (38.5%) of the 29 ears operated on achieved a Grade I result (normal self-cleaning ears) and three (11.5%) had recurrence (Grade III). One patient was found to have external ear canal cholesteatoma. Postoperatively, 15 ears demonstrated closure of the air-bone gap to within 10 dB or improvement on four-frequency average pure-tone audiogram to better than 25 dB. The mean preoperative air-bone gap was 28.7 dB compared with 12.5 dB postoperatively (p < 0.001). When hearing results were correlated with postoperative grade, 90.0% of the ears with a Grade I result had significant hearing improvement, 46.2% in patients with Grade II and 33.3% in patients with Grade III results. Four patients complained of temporomandibular joint pain postoperatively. CONCLUSION: Surgery remains the treatment of choice for mature medial canal fibrosis. With proper surgical technique and meticulous postoperative care, a patent and functioning external ear canal can be achieved in a majority of patients. Absence of recurrence does not equate with improved hearing thresholds.

Evaluation of attic retraction pockets by microendoscopy.

OBJECTIVE: Attic retraction pockets (RPs) are one of the important sequelae of otitis media with effusion and are classified on the basis of the findings of otoscopy or otomicroscopy. It is unclear when and how RPs turn into cholesteatomas. We compared the findings of RPs obtained with the use of a microendoscope with those from an otomicroscope to determine the extension of RPs. STUDY DESIGN: Comparative study. PATIENTS: Twenty-seven attic RPs (Tos type III or IV) and 10 precholesteatomas previously classified under an otomicroscope were reexamined. MAIN OUTCOME MEASURES: A high-resolution, fine, rigid microendoscope with an outer diameter of 1.0 mm was used to observe the extension of a retraction. In addition, to confirm the extent of the RP, computed tomography (CT) scans using water as the contrast media were performed in representative cases. RESULTS: Endoscopy with the microendoscope revealed that in 59%, the RP was deeper than indicated by the initial otomicroscopic estimation, suggesting that the extension of the RP was underestimated. The findings of water-enhanced CT scans were comparable with the endoscopic findings. The bottom was observable with the microendoscope and the otomicroscope in 20 (74%) and 11 (41%) of 27 RPs, respectively. Seven ears had a deeper RP, which extended beyond the incudomallear joint. Of the 10 precholesteatoma cases, in which the bottoms were not visible with an otomicroscope or conventional endoscopes, the microendoscope revealed the bottom in 5 (50%). CONCLUSION: On the basis of the observations of our study, we suggest that reexamination of cases of RP classified as Tos type III or IV, preferably with a microendoscope, if available, and assessment of the depth of the RP using water-enhanced CT, would be useful and that careful follow-up is necessary for deep RPs because of a potential risk of development into cholesteatoma.

Cholesteatoma staging.

Manuscripts reporting results of surgery for chronic otitis media would be more meaningful if standardized nomenclature were used in describing the type of surgery performed and if standardized classifications were used for the disease process. Standardized nomenclature for surgery type and classifications for chronic otitis media exists. A Classification for cholesteatoma, based on pathophysiology, location, eustachian tube function, ossicular defects, and presence or absence of complications is proposed. Congenital cholesteatoma is that which has its nidus of trapped squamous epithelium present at birth. Primary acquired cholesteatoma is associated with a defect in the pars flaccida, while secondary acquired cholesteatoma is associated with a defect in the pars tensa. Tertiary acquired cholesteatoma is defined as that which occurs behind a normal appearing tympanic membrane as the result of implantation or an antecedent middle ear inflammation.

Congenital cholesteatoma: classification, management, and outcome.

OBJECTIVES: To assess whether a classification system for congenital cholesteatoma (CC) can be derived from analysis of a large clinical sample of cases and to assess whether such a classification system is a reliable guide for surgical intervention, reexploration, and hearing outcome. DESIGN: A retrospective review of clinical and surgical records of 119 patients with CC. SETTING: Four tertiary care children's hospitals. PATIENTS: One hundred nineteen children with CC (age range, 2-14 years). RESULTS: Congenital cholesteatomas in the anterior mesotympanum were treated successfully with exploratory tympanotomy. Congenital cholesteatomas involving the posterior superior quadrant and the attic usually had concurrent involvement of the incus and stapes and often required a canal wall up tympanomastoidectomy and a second look for its control. Congenital cholesteatoma involving the mastoid usually involved all of the ossicles, was inconsistently controlled with canal wall up tympanomastoidectomy, and had a poor prognosis for restoration of conductive hearing loss. The mean +/- SD age of children with CC was 5.6 +/- 2.8 years, while that of children with acquired cholesteatoma was 9.7 +/- 3.3 years. CONCLUSIONS: The sequence of spread of CC, involving 3 sites, suggests a natural classification system. The CC usually originates in the anterior superior quadrant, but does not consistently remain there, and may variably occupy the middle ear and mastoid and result in ossicular destruction and conductive hearing loss. The location of CC and the involvement of the ossicles is an accurate predictor of the type of surgery necessary for its control and for the success of hearing restoration.

Minimally invasive laser contraction myringoplasty for tympanic membrane atelectasis.

OBJECTIVE: We sought to develop a minimally invasive surgical technique using the CO(2) laser to reduce or eliminate tympanic membrane atelectasis in a select group of patients. STUDY DESIGN: Thirty-seven ears with varying degrees of tympanic membrane atelectasis underwent CO(2) laser myringoplasty with the patients under intravenous sedation in the operating room setting. Atelectasis severity was graded for each patient and documented before and after laser myringoplasty through photodocumentation. Patients were followed for 1 year with comparison tympanic membrane photography. SETTING: The study was conducted in a tertiary care private otology-neurotology practice. RESULTS: Laser myringoplasty significantly reduced retraction pocket severity in most patients. No patients required resection of the retraction pocket or tympanoplasty. The most favorable outcomes were observed in patients with atelectasis addressed early rather than later in its more advanced stages. CONCLUSION: Laser contraction myringoplasty can reduce or eliminate atelectatic areas of the tympanic membrane through immediate contraction and "tightening" of the tympanic membrane tissues. Clinicians should use a standardized tympanic membrane atelectasis grading format. SIGNIFICANCE: A minimally invasive surgical technique for addressing tympanic membrane atelectasis is described, and a tympanic membrane atelectasis grading system is presented based on size, location, and depth of the atelectatic region.

Tympanometric pattern classification in relation to middle ear effusions.

Tympanometric evaluation using an otoadmittance meter and X-Y plotter was performed on 129 ears of 70 children with history of recurrent acute otitis media, or evidence otoscopically of persistent middle ear effusion, or both. Myringotomy, performed immediately following the tympanometric procedure, confirmed the presence or absence of effusion. Following myringotomy, tympanometric patterns, as shown by susceptance and conductance tracings at 220 and 660 Hz, were identified and middle ear pressures and otoadmittance peak values were determined. These findings were compared and criteria were developed which best determined the presence or absence of effusion. The results revealed the following: 1) High negative middle ear pressure is not necessarily a reliable indicator of middle ear effusion. 2) Tympanometry can be used reliably as an indicator of effusion. A combination of pattern classification and susceptance criteria enabled correct prediction of effusion in 93% of these children. One pattern at B660 was found to be pathognomonic of effusion. 3) In general, otoadmittance at 660 Hz appears to be a better indicator of effusion than 220 Hz.