Broadening the Phenotype of DFNB28: Mutations in TRIOBP are associated with Moderate, Stable Hereditary Hearing Impairment

Publication date: Available online 12 January 2017
Source:Hearing Research
Author(s): Mieke Wesdorp, Jiddeke M. van de Kamp, Erik F. Hensen, Margit Schraders, Jaap Oostrik, Helger G. Yntema, Ilse Feenstra, Ronald J.C. Admiraal, Henricus P.M. Kunst, Mustafa Tekin, Moien Kanaan, Hannie Kremer, Ronald J.E. Pennings
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29)). The fourth mutation is the known c.3232dup (p.Arg1078Profs*6) mutation. Longitudinal audiometric analyses in one of the subjects revealed that HI was stable over a period of 15 years. Vestibular function was normal. Predicted effects of the mutations do not explain the relatively mild phenotype in the presented subjects, whereas location of the mutation might well contribute to the milder HI in one of the subjects. It is known that isoform classes TRIOBP-4 and TRIOBP-5 are important for stereocilia stability and rigidity. To our knowledge, p.Gly1672* is the first pathogenic variant identified in DFNB28 that does not affect isoform class TRIOBP-4. This suggests that a single TRIOBP copy to encode wildtype TRIOBP-4 is insufficient for normal hearing, and that at least one TRIOBP copy to encode TRIOBP-5 is indispensable for normal inner ear function. Furthermore, this study demonstrates that DFNB28 can be milder than reported so far and that mutations in TRIOBP are thus associated with a heterogeneous phenotype.



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Broadening the Phenotype of DFNB28: Mutations in TRIOBP are associated with Moderate, Stable Hereditary Hearing Impairment

Publication date: Available online 12 January 2017
Source:Hearing Research
Author(s): Mieke Wesdorp, Jiddeke M. van de Kamp, Erik F. Hensen, Margit Schraders, Jaap Oostrik, Helger G. Yntema, Ilse Feenstra, Ronald J.C. Admiraal, Henricus P.M. Kunst, Mustafa Tekin, Moien Kanaan, Hannie Kremer, Ronald J.E. Pennings
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29)). The fourth mutation is the known c.3232dup (p.Arg1078Profs*6) mutation. Longitudinal audiometric analyses in one of the subjects revealed that HI was stable over a period of 15 years. Vestibular function was normal. Predicted effects of the mutations do not explain the relatively mild phenotype in the presented subjects, whereas location of the mutation might well contribute to the milder HI in one of the subjects. It is known that isoform classes TRIOBP-4 and TRIOBP-5 are important for stereocilia stability and rigidity. To our knowledge, p.Gly1672* is the first pathogenic variant identified in DFNB28 that does not affect isoform class TRIOBP-4. This suggests that a single TRIOBP copy to encode wildtype TRIOBP-4 is insufficient for normal hearing, and that at least one TRIOBP copy to encode TRIOBP-5 is indispensable for normal inner ear function. Furthermore, this study demonstrates that DFNB28 can be milder than reported so far and that mutations in TRIOBP are thus associated with a heterogeneous phenotype.



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Broadening the Phenotype of DFNB28: Mutations in TRIOBP are associated with Moderate, Stable Hereditary Hearing Impairment

Publication date: Available online 12 January 2017
Source:Hearing Research
Author(s): Mieke Wesdorp, Jiddeke M. van de Kamp, Erik F. Hensen, Margit Schraders, Jaap Oostrik, Helger G. Yntema, Ilse Feenstra, Ronald J.C. Admiraal, Henricus P.M. Kunst, Mustafa Tekin, Moien Kanaan, Hannie Kremer, Ronald J.E. Pennings
DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29)). The fourth mutation is the known c.3232dup (p.Arg1078Profs*6) mutation. Longitudinal audiometric analyses in one of the subjects revealed that HI was stable over a period of 15 years. Vestibular function was normal. Predicted effects of the mutations do not explain the relatively mild phenotype in the presented subjects, whereas location of the mutation might well contribute to the milder HI in one of the subjects. It is known that isoform classes TRIOBP-4 and TRIOBP-5 are important for stereocilia stability and rigidity. To our knowledge, p.Gly1672* is the first pathogenic variant identified in DFNB28 that does not affect isoform class TRIOBP-4. This suggests that a single TRIOBP copy to encode wildtype TRIOBP-4 is insufficient for normal hearing, and that at least one TRIOBP copy to encode TRIOBP-5 is indispensable for normal inner ear function. Furthermore, this study demonstrates that DFNB28 can be milder than reported so far and that mutations in TRIOBP are thus associated with a heterogeneous phenotype.



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A Mysterious Role of Arginine Vasopressin Levels in Ménière's Disease—Meta-analysis of Clinical Studies

Objective: There are contradicting claims that patients with Ménière's disease (MD) have elevated levels of arginine vasopressin (AVP). The results of published studies regarding the difference of AVP level between MD patients and non-MD control subjects are inconsistent. We propose that the discrepancy of AVP levels during different MD phases may be a potential reason. Thus, we conducted a meta-analysis to analyze the precise estimate of this hypothesis. Data Sources: PubMed, Medline, and Cochrane databases from the earliest publication, up until September 2016; references from meta-analyses and related review articles. Study Selection and Data Extraction: Clinical studies that reported AVP level in MD patients and non-MD controls were independently reviewed according to the inclusion criteria. The Newcastle–Ottawa Scale was used to assess quality of studies. Data Synthesis: Random effects model was used to calculate the weighted mean difference. Conclusion: Eight studies met the inclusion criteria. AVP levels of MD patients in acute phase (WMD = 2.29, 95% CI = 0.84–3.74, Z = 3.10, p = 0.002) were significantly higher than non-MD subjects. For MD patients in remission phase the difference of AVP levels between the MD patients and the non-MD controls was found (WMD = 0.54, 95% CI = −0.06 to 1.02, Z = 2.20, p = 0.03). However, AVP level was not an ideal biomarker of MD patients. Regardless of MD phase, there were no significant differences in the AVP level of MD patients (WMD = 0.27, 95% CI = −0.10 to 0.64, Z = 1.43, p = 0.15). Future investigations with larger sample sizes are needed to verify the results.

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First Report: Linear Incision for Placement of a Magnetically Coupled Bone-Anchored Hearing Implant

Objectives: Discuss use of a linear incision for placement of a magnetically coupled bone anchored hearing implant. Methods: Case series. Results: Two patients underwent placement of magnetically coupled bone-anchored hearing implants (BAHI) through linear incisions. The first, a 40-year-old female with congenital single-sided deafness, previously had successful implantation of a percutaneous bone anchored hearing implant through a linear incision; unfortunately, she developed pain and intermittent drainage at her abutment site with time, resulting in a request for removal of her device. As an alternative to complete removal, we offered to replace the percutaneous implant with a magnetically coupled BAHI, employing the same linear incision previously. The second patient, a 53-year-old obese female with limited neck mobility and mixed hearing loss, underwent primary placement of a magnetically coupled BAHI through a linear incision. Limitations in neck mobility and patient body habitus precluded use of a traditional C-shaped incision. Both patients underwent surgery successfully, healed without incident, had their devices activated 6 weeks after their procedures, and are able to wear their implants more than 8 hours per day without discomfort. Conclusion: Surgical techniques for bone-anchored implants continue to evolve. Though manufacturers of magnetically coupled devices recommend using C-shaped incisions with large skin flaps, our first reported cases suggest that a small linear incision immediately overlying the implant magnet may be an acceptable alternative. Potential benefits include a smaller incision, less hair removal, smaller flap, decreased surgical time, and less postoperative pain.

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Cochlear Implantation in Ménière's Disease With and Without Labyrinthectomy

Objective: To investigate outcomes of cochlear implantation (CI) in patients with Ménière's disease (MD) with and without surgical labyrinthectomy. Study Design: Retrospective study. Setting: Multiple tertiary referral centers. Subjects: Thirty one ears from 27 patients (17 men, 10 women, aged 42–84) with CI in ipsilateral MD ear. Intervention: CI in ears with intact labyrinths (Group 1), CI with simultaneous surgical labyrinthectomy (Group 2), and CI sequential to surgical labyrinthectomy (Group 3). Main Outcome Measure: Within-subject improvement on Bamford Kowal Bench test or City University of New York open set sentence tests. Results: Majority of ears achieved excellent open-set speech recognition by 12 months post-CI, irrespective of intervention group. Preoperative details including patient age and sex, implant, MD and previous intervention, and audiological test results did not significantly affect outcomes. Patients with MD undergoing CI only may experience vestibular dysfunction which may cause long-term concerns. Incidental finding was noted of eight ears with fluctuating symptoms in ipsilateral ear during 12-month period post-CI, with five of eight ears showing objective fluctuating impedances and mapping. Conclusion: CI in MD can yield good hearing outcomes in all three groups and this is possible even after a long delay after labyrinthectomy. Bilateral MD patients are complex and prospective quality of life (QoL) measures would be beneficial in being better able to manage the vestibular outcomes as well as the audiological ones.

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Effects of Intratympanic Dexamethasone on High-Dose Radiation Ototoxicity In Vivo

Background: Stereotactic radiosurgery for lateral skull base tumors can cause hearing loss when the cochleae are exposed to high doses of single-fraction radiation. Currently, there are no known nondosimetric preventative treatments for radiation-induced ototoxicity. Hypothesis: Intratympanic (IT) dexamethasone (DXM), a synthetic steroid, protects against radiation-induced auditory hair cell (HC) and hearing losses in rats in vivo. Methods: Seven rats received radiation (12 Gy) to both cochleae. In irradiated rats and six nonirradiated rats, IT DXM was randomized to one ear, while tympanic puncture without DXM was performed on the contralateral ear. Baseline and 4-week postradiation auditory-evoked potential tests were performed. The cochleae were processed for HC viability. Results: Cochleae exposed to radiation demonstrated more outer HC (OHC) loss in all turns than nonirradiated ears (p 

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Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome

Background: Sensorineural complications of stapes surgery are rare but potentially serious. Imaging is usually performed to identify an underlying cause, such as excessive intravestibular penetration of the prosthesis or pneumolabyrinth suggesting perilymphatic fistula. Unfortunately, there is very little data in an unselected series of uneventful patients. The aim of this study was to analyze the depth of prosthesis penetration within the vestibule and the rate of pneumolabyrinth the day or the day after the procedure by performing a cone beam computed tomography of the temporal bone in a cohort of unselected patients, and to correlate imaging findings to clinical outcome. Methods: A prospective monocentric study was conducted in a tertiary referral medical center. A cone beam computed tomography was performed in 80 consecutive patients having undergone stapes surgery for otosclerosis, the day or the day after the procedure. Penetration length and location of the prosthesis within the vestibule, as well as presence or absence of a pneumolabyrinth, were recorded, and compared with clinical data (vertigo, nystagmus, hearing measurement). Results: Pneumolabyrinth was found in 15% of the patients. The mean penetration length of the prosthesis within the vestibule was 1 mm (0–1.9 mm). No serious complication occurred during the study period. No correlations were found when comparing imaging findings to clinical outcome. Conclusion: Our results do not support empirically insights into detrimental effects of postoperative pneumolabyrinth or too long prosthesis after stapes surgery. Further studies are needed to better understand the causes of postoperative complications of stapes surgery.

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Comparison of Treatment Outcomes Following Either Prefrontal Cortical-only or Dual-site Repetitive Transcranial Magnetic Stimulation in Chronic Tinnitus Patients: A Double-blind Randomized Study

Objectives: We evaluated treatment outcomes following single-site repetitive transcranial magnetic stimulation (rTMS) in the dorsolateral prefrontal cortex (DLPFC) and dual-site rTMS in the auditory cortex (AC) and DLPFC (AC + FC). Study Design and Patients: This prospective randomized double-blind trial initially included 19 patients with chronic tinnitus and 17 of these patients received rTMS on the left AC and left DLPFC or only the left DLPFC. The subjects were randomly allocated to either the dual-site rTMS (AC + FC) protocol (Group 1, n = 9) or the singlesite rTMS (DLPFC) protocol (Group 2, n = 8). Group 1 received daily treatments with 2,000 pulses applied to the AC and 1,000 pulses applied to the DLPFC for 4 days (total of 12,000 pulses) and Group 2 received daily treatments with 3,000 pulses applied the DLPFC for 4 days (total of 12,000 pulses). Main Outcome Measures: The severity of tinnitus was assessed before rTMS treatment using the Tinnitus Handicap Inventory (THI) and the self-rated Visual Analog Scale. These measures were used to determine the awareness, loudness, annoyance, and effects of tinnitus on daily life at 1, 2, 4, and 12 weeks after treatment. Results: The improvement in THI score was significantly better in Group 1 than in Group 2, even after controlling for the between-group differences in pretreatment THI score. In terms of psychological factors, Group 1 exhibited significant improvements in scores on the State-Trait Anxiety Inventory (STAI) for both state anxiety (STAI-X1) and trait anxiety (STAI-X2) at 12 weeks posttreatment and scores on the Pittsburgh Sleep Quality Index at 4 weeks posttreatment. Group 2 showed an improvement in only the STAI-X2 score at 12 weeks posttreatment. Conclusions: The rTMS protocol effectively suppressed tinnitus in the dual-site rTMS (AC+FC) group but not in the single-site rTMS (DLPFC) group. Although recent evidence has shown that non-auditory cortices in the tinnitus network play an important role in the generation of tinnitus, our findings indicate that rTMS on non-auditory cortical sites alone may not be sufficient for treatment. Thus, dual-site rTMS in the AC and DLPFC may be preferable for controlling this condition.

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Transmastoid Endoscopic-Assisted Eustachian Tube Packing After Translabyrinthine Tumor Resection: A Cadaveric Feasibility Study

Hypothesis: Endoscopically assisted packing of the Eustachian tube (ET) will improve visualization of the protympanic space compared with standard techniques with the microscope. Background: Postoperative cerebrospinal fluid (CSF) leakage after translabyrinthine tumor resection remains a problem. Current techniques of packing the ET are limited by inadequate visualization. The objective of this study is to demonstrate the feasibility and usefulness of transmastoid endoscopic-assisted ET packing during translabyrinthine tumor resection. Methods: Eight human cadaveric temporal bone dissections were performed on four heads to test the visualization that could be obtained of the ET orifice with an endoscope via transmastoid—facial recess approach. The incus body and incus buttress were removed, the aditus ad antrum enlarged, and tensor tympani muscle was cut. The scope was placed where the incus buttress had previously resided. The ET orifice was visualized and subsequently packed. Results: In all eight temporal bones, the endoscope was successfully able to visualize the ET orifice, with improved visualization of the orifice compared with standard techniques. Surgical technique and potential pitfalls are discussed. Conclusions: The transmastoid endoscopic approach for packing the ET improves visualization of the ET orifice. Packing under direct visualization provided greater reassurance that the material entered the true ET lumen as opposed to a false passage. The technique can be performed without any significant changes to standard surgical technique, allowing for a fast and accurate closure of the ET orifice and has application in potentially decreasing postoperative CSF leak rates.

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Benefits of High-dose Steroid + Hespander + Mannitol Administration in the Treatment of Bell's Palsy

Objective: Large-scale investigations have not been recently conducted on the efficacy of high-dose steroid administration of prednisolone (PSL) for Bell's palsy. We compared treatment results between normal-dose steroid (PSL 60 mg/d) and high-dose steroid (PSL 200 mg/d) + Hespander + Mannitol administration. We also investigated the recovery rate for antiviral agents. Study Design: Retrospective case review. Setting: Tertiary referral center. Patients: A total of 675 patients with Bell's palsy who had grade V and grade VI on the House–Brackmann (HB) scale were treated in our department between 1995 and 2014. These patients could be divided into a normal-dose group and high-dose group. Methods: We separately assessed treatment outcomes for HB grade V patients and HB grade VI patients. Logistic regression analysis was also performed to investigate factors that can impact treatment outcomes, i.e., sex, age, days to start of treatment, PSL dosage, and antiviral drug administration. Results: Recovery rates were significantly better in the high-dose steroid + Hespander + Mannitol group in comparison with the normal-dose steroid group for HB grade V (100% versus 77.7%) and HB grade VI (92.5% versus 68.2%). Additional effects of antiviral agents were only shown in the normal-dose group. Significant factors for treatment outcomes were PSL 200 mg/d administration and early initiation of treatment. Insignificant factors were sex, age, and the antiviral agent. Conclusion: We showed the high-dose steroid + Hespander + Mannitol administration produced significantly better outcomes than normal-dose steroid administration in the treatment of patients with Bell's palsy.

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Long-term Symptom-specific Outcomes for Patients With Petrous Apex Cholesterol Granulomas: Surgery Versus Observation

Objective: Review long-term symptom-specific outcomes for petrous apex cholesterol granulomas (PACG). Study Design: Retrospective review. Setting: Tertiary center. Patients: Adults with PACG were assessed from 1998 to 2015. Intervention(s): Symptomatic patients were stratified into surgical and observation subgroups. Main Outcome Measure(s): Resolution rates of individual symptoms and chief complaints were assessed as was the impact of surgical approach and stent usage on symptom-specific outcomes. Symptom recurrence rates were tabulated. Results: Twenty-seven patients were included whose mean age was 44.8 ± 3.3 years. Fourteen and 13 patients stratified into the surgical and observation subgroups respectively. The surgical subgroup trended toward a longer follow-up period (mean 68.5 vs. 33.8 mo; p = 0.06). Overall, the most frequent symptoms encountered were headache (52%), aural fullness, tinnitus, and vestibular complaints (41% each). Visual complaints, retro-orbital pain, and cranial neuropathies were less common (18%, 15%, 11%). The overall symptom resolution rate was significantly higher in the surgical subgroup (48% vs. 26%, p = 0.03). In both subgroups, headache, retro-orbital pain, and visual complaints had the highest resolution rates. Vestibular complaints and tinnitus were very unlikely to resolve. Significantly more patients in the surgical group resolved their chief complaints (70% vs. 25%, p = 0.02). While approach type and stent usage did not significantly influence symptom outcomes, all patients with symptom recurrence (11%) were initially managed without stents. Conclusion: Symptom-specific outcomes were better in patients managed surgically for PACG. Individual symptom resolution rates were highly variable. Some symptoms were refractory regardless of management strategy. Surgical approach and stent usage did not significantly influence symptom outcomes.

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Does Otosclerosis Affect Dark and Transitional Cells in the Human Vestibular Labyrinth?

Hypothesis: The density of vestibular dark cells (DCs) and vestibular transitional cells (TCs) can be quantitatively decreased in human temporal bones with otosclerosis. Background: Previous reports have shown that otosclerosis can lead to vestibular symptoms. Methods: We examined 61 human temporal bone specimens from 52 deceased donors with otosclerosis group–with and without endosteal involvement (EI), and with and without endolymphatic hydrops (EH)–versus 25 specimens from 18 age-matched controls. Using light microscopy, we evaluated the nonsensory epithelium of the lateral semicircular canal (LSC) and posterior semicircular canal (PSC) of the human vestibular labyrinth, focusing on the density of DCs and TCs. Results: In both the LSC and the PSC, as compared with the control group, the mean density of DCs significantly decreased in the EI (+) group, in the EI (+) and EH (+) subgroup, and in the EI (+) and EH (−) subgroup (p  0.05). Conclusion: We found a decrease in the density of DCs associated with EI in human temporal bone specimens with otosclerosis, regardless of the presence of EH. This decrease might cause damage in ion and water transportation, leading to vestibular symptoms.

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Successful Loading of a Bone-Anchored Hearing Implant at 1 Week After Surgery

Objective: To assess implant stability and safety of loading a bone-anchored implant 1 week after surgery. The patients were loaded at 1 week for fast rehabilitation and ease of logistics. Design: Single center, prospective cohort study of 25 adults with expected normal skin and bone quality. Intervention: Implantation of the Baha BA400 implant system using a linear incision technique without skin thinning. Abutment lengths of 8, 10, and 12 mm were used. Main Outcome Measures: Implant stability quotient (ISQ) 0, 7, 14, 30 days and 3, 6, and 12 months postoperatively. Results: Twenty-five patients were included, 23 could be followed up for 1 year. Mean ISQ was increasing throughout the observation period with no sign of adverse influence from the early loading. No implants were lost or clinically unstable. Individual ISQ curves fall in two categories—continually increasing ISQ or increasing ISQ with initial dip. ISQ for patients in the initial dip group eventually increased despite the early and continued loading. Conclusion: Loading of the implant system under study 1 week after surgery have been successful for 25 patients with expected normal bone quality followed up for 1 year. No implants were lost. All individual ISQ were increasing throughout the study period. The early loading of the implant under study does not seem to influence the osseointegration.

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Initial Results of a Safety and Feasibility Study of Auditory Brainstem Implantation in Congenitally Deaf Children

Objective: To determine the safety and feasibility of the auditory brainstem implant (ABI) in congenitally deaf children with cochlear aplasia and/or cochlear nerve deficiency. Study Design: Phase I feasibility clinical trial of surgery in 10 children, ages 2 to 5 years, over a 3-year period. Setting: Tertiary children's hospital and university-based pediatric speech/language/hearing center. Intervention(s): ABI implantation and postsurgical programming. Main Outcome Measure(s): The primary outcome measure is the number and type of adverse events during ABI surgery and postsurgical follow-up, including behavioral mapping of the device. The secondary outcome measure is access to and early integration of sound. Results: To date, nine children are enrolled. Five children have successfully undergone ABI surgery and postoperative behavioral programming. Three children were screen failures, and one child is currently undergoing candidacy evaluation. Expected adverse events have been documented in three of the five children who received the ABI. One child experienced a cerebral spinal fluid leak, which resolved with lumbar drainage. One child demonstrated vestibular side effects during device programming, which resolved by deactivating one electrode. One child experienced postoperative vomiting resulting in an abdominal radiograph. Four children have completed their 1-year follow-up and have speech detection thresholds of 30 to 35 dB HL. Scores on the IT-MAIS/MAIS range from 8 to 31 (out of a total of 40), and the children are demonstrating some ability to discriminate between closed-sets words that differ by number of syllables (pattern perception). Conclusion: ABI surgery and device activation seem to be safe and feasible in this preliminary cohort.

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Comparison of Treatment Outcomes Following Either Prefrontal Cortical-only or Dual-site Repetitive Transcranial Magnetic Stimulation in Chronic Tinnitus Patients: A Double-blind Randomized Study

Objectives: We evaluated treatment outcomes following single-site repetitive transcranial magnetic stimulation (rTMS) in the dorsolateral prefrontal cortex (DLPFC) and dual-site rTMS in the auditory cortex (AC) and DLPFC (AC + FC). Study Design and Patients: This prospective randomized double-blind trial initially included 19 patients with chronic tinnitus and 17 of these patients received rTMS on the left AC and left DLPFC or only the left DLPFC. The subjects were randomly allocated to either the dual-site rTMS (AC + FC) protocol (Group 1, n = 9) or the singlesite rTMS (DLPFC) protocol (Group 2, n = 8). Group 1 received daily treatments with 2,000 pulses applied to the AC and 1,000 pulses applied to the DLPFC for 4 days (total of 12,000 pulses) and Group 2 received daily treatments with 3,000 pulses applied the DLPFC for 4 days (total of 12,000 pulses). Main Outcome Measures: The severity of tinnitus was assessed before rTMS treatment using the Tinnitus Handicap Inventory (THI) and the self-rated Visual Analog Scale. These measures were used to determine the awareness, loudness, annoyance, and effects of tinnitus on daily life at 1, 2, 4, and 12 weeks after treatment. Results: The improvement in THI score was significantly better in Group 1 than in Group 2, even after controlling for the between-group differences in pretreatment THI score. In terms of psychological factors, Group 1 exhibited significant improvements in scores on the State-Trait Anxiety Inventory (STAI) for both state anxiety (STAI-X1) and trait anxiety (STAI-X2) at 12 weeks posttreatment and scores on the Pittsburgh Sleep Quality Index at 4 weeks posttreatment. Group 2 showed an improvement in only the STAI-X2 score at 12 weeks posttreatment. Conclusions: The rTMS protocol effectively suppressed tinnitus in the dual-site rTMS (AC+FC) group but not in the single-site rTMS (DLPFC) group. Although recent evidence has shown that non-auditory cortices in the tinnitus network play an important role in the generation of tinnitus, our findings indicate that rTMS on non-auditory cortical sites alone may not be sufficient for treatment. Thus, dual-site rTMS in the AC and DLPFC may be preferable for controlling this condition.

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Transmastoid Endoscopic-Assisted Eustachian Tube Packing After Translabyrinthine Tumor Resection: A Cadaveric Feasibility Study

Hypothesis: Endoscopically assisted packing of the Eustachian tube (ET) will improve visualization of the protympanic space compared with standard techniques with the microscope. Background: Postoperative cerebrospinal fluid (CSF) leakage after translabyrinthine tumor resection remains a problem. Current techniques of packing the ET are limited by inadequate visualization. The objective of this study is to demonstrate the feasibility and usefulness of transmastoid endoscopic-assisted ET packing during translabyrinthine tumor resection. Methods: Eight human cadaveric temporal bone dissections were performed on four heads to test the visualization that could be obtained of the ET orifice with an endoscope via transmastoid—facial recess approach. The incus body and incus buttress were removed, the aditus ad antrum enlarged, and tensor tympani muscle was cut. The scope was placed where the incus buttress had previously resided. The ET orifice was visualized and subsequently packed. Results: In all eight temporal bones, the endoscope was successfully able to visualize the ET orifice, with improved visualization of the orifice compared with standard techniques. Surgical technique and potential pitfalls are discussed. Conclusions: The transmastoid endoscopic approach for packing the ET improves visualization of the ET orifice. Packing under direct visualization provided greater reassurance that the material entered the true ET lumen as opposed to a false passage. The technique can be performed without any significant changes to standard surgical technique, allowing for a fast and accurate closure of the ET orifice and has application in potentially decreasing postoperative CSF leak rates.

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Long-term Symptom-specific Outcomes for Patients With Petrous Apex Cholesterol Granulomas: Surgery Versus Observation

Objective: Review long-term symptom-specific outcomes for petrous apex cholesterol granulomas (PACG). Study Design: Retrospective review. Setting: Tertiary center. Patients: Adults with PACG were assessed from 1998 to 2015. Intervention(s): Symptomatic patients were stratified into surgical and observation subgroups. Main Outcome Measure(s): Resolution rates of individual symptoms and chief complaints were assessed as was the impact of surgical approach and stent usage on symptom-specific outcomes. Symptom recurrence rates were tabulated. Results: Twenty-seven patients were included whose mean age was 44.8 ± 3.3 years. Fourteen and 13 patients stratified into the surgical and observation subgroups respectively. The surgical subgroup trended toward a longer follow-up period (mean 68.5 vs. 33.8 mo; p = 0.06). Overall, the most frequent symptoms encountered were headache (52%), aural fullness, tinnitus, and vestibular complaints (41% each). Visual complaints, retro-orbital pain, and cranial neuropathies were less common (18%, 15%, 11%). The overall symptom resolution rate was significantly higher in the surgical subgroup (48% vs. 26%, p = 0.03). In both subgroups, headache, retro-orbital pain, and visual complaints had the highest resolution rates. Vestibular complaints and tinnitus were very unlikely to resolve. Significantly more patients in the surgical group resolved their chief complaints (70% vs. 25%, p = 0.02). While approach type and stent usage did not significantly influence symptom outcomes, all patients with symptom recurrence (11%) were initially managed without stents. Conclusion: Symptom-specific outcomes were better in patients managed surgically for PACG. Individual symptom resolution rates were highly variable. Some symptoms were refractory regardless of management strategy. Surgical approach and stent usage did not significantly influence symptom outcomes.

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Does Otosclerosis Affect Dark and Transitional Cells in the Human Vestibular Labyrinth?

Hypothesis: The density of vestibular dark cells (DCs) and vestibular transitional cells (TCs) can be quantitatively decreased in human temporal bones with otosclerosis. Background: Previous reports have shown that otosclerosis can lead to vestibular symptoms. Methods: We examined 61 human temporal bone specimens from 52 deceased donors with otosclerosis group–with and without endosteal involvement (EI), and with and without endolymphatic hydrops (EH)–versus 25 specimens from 18 age-matched controls. Using light microscopy, we evaluated the nonsensory epithelium of the lateral semicircular canal (LSC) and posterior semicircular canal (PSC) of the human vestibular labyrinth, focusing on the density of DCs and TCs. Results: In both the LSC and the PSC, as compared with the control group, the mean density of DCs significantly decreased in the EI (+) group, in the EI (+) and EH (+) subgroup, and in the EI (+) and EH (−) subgroup (p  0.05). Conclusion: We found a decrease in the density of DCs associated with EI in human temporal bone specimens with otosclerosis, regardless of the presence of EH. This decrease might cause damage in ion and water transportation, leading to vestibular symptoms.

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Quantitative Evaluation of the In Vivo Vocal Fold Medial Surface Shape

Publication date: Available online 12 January 2017
Source:Journal of Voice
Author(s): Andrew M. Vahabzadeh-Hagh, Zhaoyan Zhang, Dinesh K. Chhetri
Objectives/HypothesisGlottal insufficiency is a common clinical problem in otolaryngology and medialization laryngoplasty (ML) procedures remain the primary treatment modality. Although the goal of ML is to restore physiologic glottal posture and achieve optimal phonation, this posture has not been directly measured. In this study, we assessed glottal medial surface contour changes with selective activation of the intrinsic laryngeal muscles (ILMs).Study DesignBasic science study using an in vivo canine hemilarynx model.MethodsIn an in vivo canine hemilarynx, India ink was used to mark fleshpoints in a grid-like fashion along the medial surface of the vocal fold and ILMs were activated in a graded manner. A right-angled prism provided two views of the medial surface, which were recorded using a high-speed camera and used to reconstruct the 3D posture deformations of the medial surface.ResultsThyroarytenoid (TA) muscle activation results in initial inferomedial bulging and increased glottal channel thickness and then glottal adduction with a final rectangular glottal channel shape. Lateral cricoarytenoid (LCA) activation closes the posterior glottis but final posture remains slightly convergent. Together, TA + LCA forms a rectangular glottis with an increased glottal vertical thickness. Posterior cricoarytenoid activation results in abduction and a slightly divergent glottis, whereas cricothyroid activation elongates the glottis and reduces the glottal channel vertical thickness.ConclusionsA quantitative analysis of in vivo canine vocal fold medial surface upon activation of selective ILMs is provided. This may guide our therapeutic efforts during medialization laryngoplasty, as well as computational modeling of laryngeal physiology.



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Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation.

Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation.

J Pediatr Endocrinol Metab. 2017 Jan 11;:

Authors: Potter K, Wu J, Lauzon J, Ho J

Abstract
Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months' old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She was started on insulin and developed sensorineural hearing loss around 2 years old. Two siblings were found to have the same mutation and were started on thiamine. One sibling developed transient hyperglycemia after several years of thiamine supplementation of 12 mg/kg that resolved with an increased thiamine dose (23 mg/kg). A younger sibling continues to remain diabetes-free on thiamine (24 mg/kg). The clinical course in this family suggests that there is an effect of thiamine on pancreatic beta cell function in patients with TRMA given the resolution of impaired fasting glucose with increasing thiamine dose in one sibling and the lack of diabetes to date in the siblings that were treated early with thiamine.

PMID: 28076318 [PubMed - as supplied by publisher]

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Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

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Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

Jpn J Radiol. 2017 Jan 10;:

Authors: Zare Mehrjardi M, Poretti A, Huisman TA, Werner H, Keshavarz E, Araujo Júnior E

Abstract
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

PMID: 28074379 [PubMed - as supplied by publisher]

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Expert opinion: Assessing cochlear implant candidacy and progress for people with English as an additional language.

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Expert opinion: Assessing cochlear implant candidacy and progress for people with English as an additional language.

Cochlear Implants Int. 2016 Apr;17 Suppl 1:59-61

Authors: Mahon M, Rajput K, Vickers D

Abstract
Special considerations relating to cochlear implants (CIs) are necessary for deaf people for whom English is an additional language (EAL). The audiological and pre-linguistic skills criteria for CI candidacy are the same for children with EAL as for children from English-speaking families. However, thorough assessment is not straightforward, for example, requiring employment of experienced interpreters. To ensure family engagement and thus appropriate support in the home, clear understanding of the family's social and cultural framework and of their needs and requirements is essential. Equally, the family must be enabled to understand the implications of CI. Additional training of staff in CI teams may be needed. This article will address these and other issues for children and also consider the situation for adults.

PMID: 27099114 [PubMed - indexed for MEDLINE]

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Enhanced Auditory Sensitivity to Body Vibrations in Superior Canal Dehiscence Syndrome

A key feature of superior canal dehiscence (SCD) syndrome is supranormal hearing of body sounds. The aim of the present study was to quantify this phenomenon and to ascertain whether auditory sensitivity to body vibrations can distinguish SCD patients. Hearing thresholds in response to vibration at the vertex, at the spinous process of the 7th cervical vertebra, and at the medial malleolus were tested in 10 SCD patients and 10 controls. Both patients and controls had insert earphones in both ears. The insert in the test ear was blocked while masking was presented to the other ear. Vibration in the frequency range of 125-1,000 Hz was presented to each of the 3 stimulation sites. The SCD patients were found to have significantly lower hearing thresholds compared with controls. The two study groups reacted differently with respect to frequency. The SCD patients showed an enhanced sensitivity for the lower stimulus frequencies. The difference was, however, rather independent of stimulus presentation site. The findings suggest that hearing thresholds in response to low-frequency body vibration at sites distant from the ears can distinguish SCD patients. The present findings may also support the idea that auditory sensation to body vibrations is a response related to soft tissue conduction.
Audiol Neurotol 2016;21:365-371

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Sound Localization in Patients With Congential Unilateral Conductive Hearing Loss With a Transcutaneous Bone Conduction Implant.

Objective: There is no consensus regarding the benefit of implantable hearing aids in congenital unilateral conductive hearing loss (UCHL). This study aimed to measure sound source localization performance in patients with congenital UCHL and contralateral normal hearing who received a new bone conduction implant. Study Design: Evaluation of within-subject performance differences for sound source localization in a horizontal plane. Setting: Tertiary referral center. Patients: Five patients with atresia of the external auditory canal and contralateral normal hearing implanted with transcutaneous bone conduction implant at the Medical University of Vienna were tested. Intervention: Activated/deactivated implant. Main Outcome Measure: Sound source localization test; localization performance quantified using the root mean square (RMS) error. Results: Sound source localization ability was highly variable among individual subjects, with RMS errors ranging from 21 to 40 degrees. Horizontal plane localization performance in aided conditions showed statistically significant improvement compared with the unaided conditions, with RMS errors ranging from 17 to 27 degrees. The mean RMS error decreased by a factor of 0.71 (p

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Influence of Behavior on Complications of Osseointegrated Bone Conduction Devices in Children.

Objective: Compare incidences of complications following implantation of osseointegrated bone conduction devices (OBCD) between children with and without behavioral disorders. Study Design: Case series with chart review. Setting: Tertiary referral center otology and neurotology practice. Patients: Pediatric patients who underwent implantation of OBCD between May 2009 and July 2014 at Arkansas Children's Hospital. Interventions: Implantation with Cochlear BAHA 200 series, Cochlear BAHA BI300, or Oticon OBCD. Main Outcome Measures: Osseointegration failure (OIF) with resulting loss of flange-fixture and/or skin and soft tissue reactions. Results: The total rate of complications was 66.2%, with the majority being minor complications (39.4%). There was no difference in the total rate of complication (p = 0.461), minor complications (p = 0.443), major complications (p = 0.777), and minor and major complications (p = 0.762) between the control group and children with behavioral disorders. Conclusion: Behavior was not observed to influence the incidence of OIF or skin/soft tissue reactions after implantation of OBCD in pediatric patients. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Middle-Ear Sound Transmission Under Normal, Damaged, Repaired, and Reconstructed Conditions.

Hypothesis: We hypothesize that current clinical treatment strategies for the disarticulated or eroded incus have the effect of combining the incus and stapes of the human middle ear (ME) into one rigid structure, which, while capable of adequately transmitting lower-frequency sounds, fails for higher frequencies. Background: ME damage causes conductive hearing loss (CHL) and while great progress has been made in repairing or reconstructing damaged MEs, the outcomes are often far from ideal. Methods: Temporal bones (TBs) from human cadavers, a laser Doppler vibrometer (LDV), and a fiber-optic based micro-pressure sensor were used to characterize ME transmission under various ME conditions: normal; with a disarticulated incus; repaired using medical glue; or reconstructed using a partial ossicular replacement prosthesis (PORP). Results: Repairing the disarticulated incus using medical glue, or replacing the incus using a commercial PORP, provided similar restoration of ME function including almost perfect function at frequencies below 4 kHz, but with more than a 20-dB loss at higher frequencies. Associated phase responses under these conditions sometimes varied and seemed dependent on the degree of coupling of the PORP to the remaining ME structure. A new ME-prosthesis design may be required to allow the stapes to move in three-dimensional (3-D) space to correct this deficiency at higher frequencies. Conclusions: Fixation of the incus to the stapes or ossicular reconstruction using a PORP limited the efficiency of sound transmission at high frequencies. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Internal Jugular Vein Compression: A Novel Approach to Mitigate Blast Induced Hearing Injury.

Hypothesis: Internal jugular vein (IJV) compression before blast injury will lead to reduced risk of traumatic hearing injury following exposure to a blast injury. Background: IJV compression and its effects on not only intracranial, but also intracochlear pressure may potentiate blast induced hearing injury, therefore, precluding its use as a prophylactic therapy for blast induced traumatic brain injury. Methods: Twenty Sprague Dawley rats were exposed to a 17.9 +/- 0.4 PSI (195.8 dB SPL) right sided shock wave in which 10 had application of a custom IJV compression collar before injury. All rodents received baseline and post blast injury otoacoustic emission (OAE) and auditory brainstem response (ABR) testing followed by cochlear histology. Results: IJV compression was shown to significantly reduce ABR and OAE threshold shifts in comparison to the non-intervention group by: 14.9 +/- 4.8 dB (right ear ABR 0.5 kHz Day 1 post blast, p = 0.01), 13.1 +/- 4.9 dB (right ear ABR 4 kHz Day 1 post blast, p = 0.04), 16.5 +/- 4.5 dB (right ear ABR click Day 1 post blast, p = 0.003), 12.1 +/- 4.6 dB (right ear ABR click Day 6 post blast, p = 0.04), and 14.0 +/- 3.2 dB (both ears OAE 3.2-10 kHz, p

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Cadaveric Testing of Robot-Assisted Access to the Internal Auditory Canal for Vestibular Schwannoma Removal.

Hypothesis: An image-guided robotic system can safely perform the bulk removal of bone during the translabyrinthine approach to vestibular schwannoma (VS). Background: The translabyrinthine approach to VS removal involves extensive manual milling in the temporal bone to gain access to the internal auditory canal (IAC) for tumor resection. This bone removal is time consuming and challenging due to the presence of vital anatomy (e.g., facial nerve) embedded within the temporal bone. A robotic system can use preoperative imaging and segmentations to guide a surgical drill to remove a prescribed volume of bone, thereby preserving the surgeon for the more delicate work of opening the IAC and resecting the tumor. Methods: Fresh human cadaver heads were used in the experiments. For each trial, the desired bone resection volume was planned on a preoperative computed tomography (CT) image, the steps in the proposed clinical workflow were undertaken, and the robot was programmed to mill the specified volume. A postoperative CT scan was acquired for evaluation of the accuracy of the milled cavity and examination of vital anatomy. Results: In all experimental trials, the facial nerve and chorda tympani were preserved. The root mean squared surface accuracy of the milled cavities ranged from 0.23 to 0.65 mm and the milling time ranged from 32.7 to 57.0 minute. Conclusion: This work shows feasibility of using a robot-assisted approach for VS removal surgery. Further testing and system improvements are necessary to enable clinical translation of this technology. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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