The effect of oral guaifenesin on pediatric chronic rhinitis: A pilot study.

OBJECTIVES: To investigate the effectiveness of guaifenesin in the relief of nasal symptoms in children with chronic rhinitis (CR). We hypothesized that guaifenesin use over a 14-day study period would improve subjective nasal complaints in pediatric patients with chronic rhinitis, as measured by the SinoNasal-5 (SN-5) survey. We also hypothesized improvement in nasal volume and cross-sectional area with guaifenesin. STUDY DESIGN: Randomized, placebo-controlled, parallel group, masked clinical trial. METHODS: The study consisted of a 14-day, randomized, placebo-controlled, parallel group, masked clinical trial of oral guaifenesin for CR in children aged 7-18 years. A 2:1 ratio of subjects on active medication to placebo was used. The study was approved by the Western Institutional Review Board. On initial enrollment and at the conclusion of therapy, the SN-5 was completed by parents, acoustic rhinometry measurements performed, and mucus sampling for rheology was obtained. RESULTS: 30 subjects were enrolled in the study, with 20 receiving guaifenesin and 10 placebo. Treatment with guaifenesin for 14 days produced a significant mean change towards clinical improvement in SN-5 scores compared with placebo (p = 0.013). There was no significant difference in quality of life assessment scores between the two groups or in any of the acoustic rhinometry parameters. Many of the study subjects had difficulty producing a mucus sample sufficient for analysis. CONCLUSIONS: Based upon our pilot data, it appears that guaifenesin treatment may produce objective improvements in pediatric patients with CR. Further research with larger samples sizes, inclusion of children younger than 6, and biophysical mucus analyses is warranted. LEVEL OF EVIDENCE: Level 2b.

Perioperative interdisciplinary approach for reduction of opioid use in pediatric tonsillectomy: Protocol using dexmedetomidine and bupivicaine as adjunct agents.

IMPORTANCE: Pediatric tonsillectomy is a common procedure now being performed most often for patients with obstructive sleep apnea, which has been associated with increased sensitivity to the respiratory side effects of opioid medications. This study investigates a strategy to decrease the use of opiate medications in a particularly vulnerable population. OBJECTIVE: Describe an interdisciplinary approach between Otolaryngologists and Anesthesiologists to decrease opiate use in tonsillectomy patients. Demonstrate safety of this protocol. Evaluate the effect of the protocol on intraoperative need for opiate medications and inhaled anesthetic use. Perform cost analysis of the protocol. DESIGN: Retrospective case-control study with cost analysis. SETTING: Tertiary Care Hospital. PARTICIPANTS: Pediatric patients undergoing tonsillectomy at a tertiary care hospital. INTERVENTIONS: Preoperative and intraoperative dexmedetomidine with local bupivacaine injection into the tonsillar fossa. MEASURES: Intraoperative need for sevoflurane, opiate, and propofol. Post-operative pain scores, and utilization of post-operative opiate, acetaminophen, and ibuprofen pain medications. Post-operative adverse events. Cost analysis of protocol. RESULTS: This protocol led to a decrease in intraoperative opiate use by 49.6%, a decrease in intraoperative sevofluorane use by 18%, and a lower reported maximum post-operative pain score without any increase in adverse events. The protocol added a small increase in medication cost of $4.07 to each procedure. CONCLUSION: The use of dexmedetomidine and local anesthetic in pediatric tonsillectomy is a safe and effective protocol that allows for the reduction of opiate use and improved post-operative pain control. KEY POINTS: Question: Can the combination of dexmedetomidine and infiltration of local anesthetic reduce overall opioid use for peediatric patients undergoing tonsillectomy? FINDINGS: In this case-control study, use of dexmedetomidine and local anesthetic injected into the tonsillar fossa led to a decrease in intraoperative opiate use by 49.6%, a decrease in intraoperative sevofluorane use by 18%, and a lower reported maximum pain score without an increase in adverse events. Meaning: Use of dexmedetomidine and local anesthetic as anesthetic adjuncts may help reduce need for intraoperative opiates and decrease the use of volatile anesthetic agents in pediatric tonsillectomy patients, which are undesirable medications in the pediatric population for their respective respiratory depression and potentially neurotoxic side effects.

Etiology of unilateral hearing loss in a national hereditary deafness repository.

PURPOSE: The aim of this study was to characterize the genetic, audiologic, and epidemiologic characteristics of unilateral hearing loss (HL) in a national hereditary deafness repository. MATERIALS AND METHODS: This is a prospective clinical study involving 34 subjects identified in a national hereditary deafness repository. Clinical data and family history of HL were obtained on enrollment. Candidate deafness genes were screened by single-stranded conformation polymorphism, and mutations were confirmed with sequencing. RESULTS: Thirty-four subjects (19 males, 15 females) with unilateral HL were identified, ranging in age from 2 months to 36 years. The mean age at diagnosis was 7 years, and the left ear was affected in 62% of the cases. The racial distribution of our sample was 62% white, 23% African American, and 15% Hispanic. Imaging results were available in 47%, and most (69%) were considered normal. Nineteen percent had enlarged vestibular aqueducts, 2 had ipsilateral Mondini dysplasia, and 1 had a common cavity deformity. Twenty subjects (59%) had a family history of HL, with 26% specifically reporting familial unilateral HL. Mutational screening revealed sequence variants in the GJB2 (connexin 26), GJB3 (connexin 31), TECTA, and COCH genes. Two novel mutations were detected in COCH and TECTA. CONCLUSIONS: Sequence variants in known deafness genes were detected in more than one-third of our study population, suggesting that gene/gene or gene/environmental interactions may indeed play a role in the etiology of some cases of unilateral deafness. Further prospective studies including congenital cytomegalovirus screening at birth and molecular screening of deafness genes in children with congenital unilateral HL will be required to establish the etiology of unilateral deafness with certainty.

Vestibular dysfunction in DFNB1 deafness.

Mutations of GJB2 and GJB6 (connexin-26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness. Despite their widespread expression throughout the vestibular system, vestibular dysfunction has not been widely recognized as a commonly associated clinical feature. The observations of vertigo accompanying DFNB1 deafness in several large families prompted our hypothesis that vestibular dysfunction may be an integral, but often overlooked, component of DFNB1 deafness. Our aim was to define the prevalence of vestibular dysfunction in Cases of DFNB1 deafness and Controls with other forms of deafness. We developed and used a survey to assess symptoms of vestibular dysfunction, medical, and family history was distributed to Cases with deafness due to pathogenic GJB2 and/or GJB6 mutations and deaf Controls without DFNB1 deafness. Our results showed: Surveys were returned by 235/515 Cases (46%) with DFNB1 mutations and 121/321 Controls (38%) without these mutations. The mean age of Cases (41) was younger than Controls (51; P < 0.001). Vestibular dysfunction was reported by 127 (54%) of Cases and was present at significantly higher rates in Cases than in deaf Controls without DFNB1 deafness (P < 0.03). Most (63%) had to lie down in order for vertigo to subside, and 48% reported that vertigo interfered with activities of daily living. Vertigo was reported by significantly more Cases with truncating than non-truncating mutations and was also associated with a family history of dizziness. We conclude that vestibular dysfunction appears to be more common in DFNB1 deafness than previously recognized and affects activities of daily living in many patients.

Novel presentation of a fourth branchial cleft anomaly in a male infant.

Fourth branchial cleft anomalies are rare congenital disorders of the neck. We describe a case involving a unique presentation of this entity as well as a review of the literature concerning its management.

Receptive language outcomes in children after cochlear implantation.

OBJECTIVES: The objectives of the present study were (1) to assess receptive language scores in children after cochlear implantation and compare them with scores in normal hearing children and children with hearing loss that use hearing aids and (2) to determine how demographic factors, such as age of implantation, impact language outcomes. STUDY DESIGN: Case series. SUBJECTS/METHODS: Receptive language scores in children with profound prelingual hearing loss who received cochlear implants between 1996 and 2004 were analyzed. RESULTS: Standardized language assessments were available for 36 children. The average age at implantation was 33 months. The mean language scores for implanted children were within 1 standard deviation of scores of normal hearing individuals. Children with cochlear implants had significantly higher subtest scores (P < 0.05) than children with hearing aids. Children with additional disabilities had significantly (P < 0.05) poorer language performance. CONCLUSIONS: Pediatric cochlear implant recipients acquire receptive language skills that approach those of their hearing peers and exceed those of children with hearing aids.

Otolaryngology Resident Well-Being and Perceptions of the Clinical Learning Environment.

OBJECTIVE: To measure the current state of organizational and well-being factors in otolaryngology residency programs and associate these perceptions with demographics, pursuit of subspecialty fellowships, and performance on the Otolaryngology Training Examination (OTE). MATERIALS AND METHODS: Anonymous mail and online survey study of otolaryngology residents from the Southern, Mid-Atlantic, and East South-Central Regions of the United States. SUMMARY OF RESULTS: A total of 46 otolaryngology residents across 14 residency training programs (22% resident response rate) completed our survey. Residents who scored above the 80th percentile on the OTE perceived greater organizational support (median = 3.84) than residents who scored below the 40th percentile (median = 3.31), U = 48.00, P = .047, η2 = 0.14. Residents interested in fellowship reported less burnout (median = 2.44) compared to those who did not plan to pursue fellowship (median = 3.56), U = 105.00, P = .010, η2 = 0.05. Residents pursuing fellowship also reported less work-life strain (median = 2.56) than those forgoing fellowship (median = 2.89), U = 126.00, P = .044, η2 = 0.10. Residents with children reported greater work-life strain (median = 3.11) compared to those without (median = 2.56), U = 60.50, P = .008, η2 = 0.15. CONCLUSION: For otolaryngology residents in this survey sample, the perception of organizational support and well-being may influence resident performance (on OTE examinations) and ultimate career goals (fellowship applications). Program directors and coordinators can use this information to strengthen the perceptions of organizational support as well as improve the clinical learning environment to optimize training conditions for their residents. Residency program directors can also use the identified study measures to assess resident perceptions of the clinical learning environment and well-being for annual evaluation and improvement purposes.

An Analysis of Risk Factors in Unilateral Versus Bilateral Hearing Loss.

A retrospective review of children with confirmed hearing loss identified through universal newborn hearing screening (UNHS) in Virginia from 2010 to 2014 was conducted in order to compare the incidence of Joint Committee on Infant Hearing (JCIH) risk factors in children with unilateral hearing loss (UHL) to bilateral hearing loss (BHL). Over the 5-year study period, 1004 children (0.20% of all births) developed a confirmed hearing loss, with 544 (51%) children having at least one JCIH risk factor. Overall, 18% of children with confirmed hearing loss initially passed UNHS. Of all children with risk factors, 226 (42%) demonstrated UHL and 318 (58%) had BHL. The most common risk factors for UHL were neonatal indicators (69%), craniofacial anomalies (30%), stigmata of HL syndromes (14%), and family history (14%). The most common risk factors in BHL were neonatal indicators (49%), family history (27%), stigmata of HL syndromes (19%), and craniofacial anomalies (16%). Children with the risk factor for positive family history were more likely to have BHL, while those with craniofacial anomalies were more likely to have UHL (P < .001). Neonatal indicators were the most commonly identified risk factor in both UHL and BHL populations. Children with UHL were significantly more likely to have craniofacial anomalies, while children with BHL were more likely to have a family history of hearing loss. Further studies assessing the etiology underlying the hearing loss and risk factor associations are warranted.

Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening.

OBJECTIVE: To analyze 2007 Joint Committee on Infant Hearing (JCIH) risk factors in children with confirmed unilateral hearing loss (UHL) who initially passed newborn hearing screening. METHODS: Retrospective record review of 16,108 infants who passed newborn hearing screening but had one or more JCIH risk factors prompting subsequent follow-up through the universal newborn hearing screening (UNHS) program in Virginia from 2010 to 2012. The study was reviewed and qualified as exempt by the Virginia Commonwealth University Institutional Review Board (IRB) and the Virginia Department of Health. RESULTS: Over the 2-year study period, 14896 (4.9% of total births) children passed UNHS but had the presence of one or more JCIH risk factor. Ultimately, we identified 121 babies from this group with confirmed hearing loss (0.7%), with 48 babies (0.2%) showing UHL. The most common risk factors associated with the development of confirmed UHL after passing the initial screen were neonatal indicators, craniofacial anomalies, family history, and stigmata of syndrome associated with hearing loss. CONCLUSION: Neonatal indicators and craniofacial anomalies were the categories most often found in children with confirmed unilateral hearing loss who initially passed their newborn hearing screen. While neonatal indicators were also the most common associated risk factor in all hearing loss, craniofacial abnormalities are relatively more common in children with UHL who initially passed newborn hearing screening. Further studies assessing the etiology underlying the hearing loss and risk factor associations are warranted.

Intracranial complications of cochlear implantation.

OBJECTIVE: To describe intracranial complications after cochlear implantation in the pediatric and adult populations. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary referral center. PATIENTS: A chart review of the intracranial complications and their management in 345 patients undergoing cochlear implantation was undertaken. INTERVENTIONS: Variables, including age, sex, implant manufacturer, cause of deafness, intraoperative findings, and postoperative complications, were collected and analyzed. MAIN OUTCOME MEASURE: Presence of intracranial complication of cochlear implantation. RESULTS: There were 134 Nucleus-22 (Cochlear, Englewood, CO) devices, 50 Nucleus-24 devices, 118 Med-El (Durham, NC) devices, and 43 Advanced Bionics Corporation (Sylmar, CA) devices in 151 adults and 194 children. There was a 9.3% overall complication rate, with most (59%) being related to device failure. There were three intracranial complications (<1%), two in elderly individuals and one in a child. Two minor dural defects with cerebrospinal fluid leak at the site of the receiver/stimulator recess in Med-El devices were repaired intraoperatively with temporalis fascia. One elderly patient experienced an acute extensive subdural hematoma after Nucleus-24 implantation, which was treated successfully with immediate evacuation. CONCLUSION: Intracranial complication rates associated with cochlear implantation are low, although potentially very serious. Surgeons should be aware of intracranial complications, especially in older individuals, and take immediate appropriate action.

Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss.

BACKGROUND: No large population based studies of newborn hearing screening have reported the population frequency of more than one specific form of deafness. OBJECTIVES: To combine available data on the overall incidence of pre-lingual deafness with estimates for specific causes to gain insight into age-related changes in the prevalence of the major causes of pre-lingual deafness. STUDY DESIGN: The incidence of deafness in England was adjusted for the exclusion of unilateral losses to obtain an overall estimate of 1.86 per 1000 births in the United States. Longitudinal data were used to estimate that the prevalence rises to 2.70 per 1000 at age 4. The genetic component was estimated sentinel phenotype analysis, and studies of single entities were integrated to estimate the prevalence of specific causes. RESULTS AND CONCLUSIONS: Congenital CMV infections and connexin mutations are the two major causes of deafness at birth, while causes for enlarged vestibular aqueduct along with congenital CMV infection are the major causes of pre-lingual hearing loss that is not expressed at birth. By molecular screening tests on newborn blood spots for four known causes, 60% of the infants who develop late onset pre-lingual hearing loss could be identified at birth.

Orbital sequelae of rhinosinusitis after cochlear implantation in children.

OBJECTIVES: The objectives of this retrospective case review were to describe orbital complications in children after cochlear implantation, to define rhinosinusitis as a possible preoperative risk factor, and to suggest a possible pathophysiological mechanism for this previously unreported occurrence. METHODS: Records of children undergoing cochlear implantation over a 7-year period at a tertiary academic medical center were reviewed. Four children who experienced postoperative orbital sequelae were identified. We describe the demographics, clinical course, and radiologic findings in these children. RESULTS: The records of 91 children who underwent cochlear implantation were reviewed. The mean age was 6.0 years (range, 0.9-16.9 years). Forty-nine children (54%) were female and 51 (56%) were white. Four children developed postoperative orbital complications on the ipsilateral side to implantation. Orbital complications were characterized by periorbital edema and preseptal cellulitis necessitating prolonged hospitalization in all four children (mean length of stay, 3.3 days). Each child's orbital complication resolved with medical therapy that included intravenous antibiotics and nasal saline. Temporal bone images before implantation showed evidence of rhinosinusitis in all four cases. Of 76 available preoperative scans from the unaffected children, only 11 (14%) studies showed evidence of rhinosinusitis. CONCLUSIONS: Children with preoperative radiologic evidence of rhinosinusitis may be at risk of orbital sequelae after cochlear implantation. Positioning of the patient during surgery, length of surgery, and minor trauma to the lamina papyracea during drilling of the mastoid may be important etiologic factors. A careful review of medical history and computed tomography imaging before implantation may identify at-risk children.

Use of radiesse in combination with restylane for facial augmentation.

OBJECTIVES: To report the long-term results of 72 consecutive patients treated with Radiesse (BioForm Inc, Franksville, Wis) and 29 patients treated with Radiesse and Restylane (Q-Medical, Uppsala, Sweden) and to share recommendations based on our experience. METHODS: A total of 72 patients were treated with Radiesse between October 2003 and December 2004. Of these patients, 29 also received Restylane for facial augmentation. Forty-six Radiesse-treated and 15 Radiesse and Restylane-treated patients completed questionnaires detailing their experience with the procedure, postoperative sequelae, overall satisfaction, and satisfaction at each site treated. RESULTS: On a 10-point scale, the overall satisfaction with Radiesse averaged 7.6, and 30 patients (65%) would recommend this procedure to others. Of the 72 patients, 2 (3%) reported persistent nodules, and both required removal of a small amount of the material. The overall satisfaction with the Radiesse and Restylane-combined treatment averaged 8.1, and 12 patients (79%) would recommend this procedure to others. No patients reported persistent nodules. CONCLUSIONS: The use of Radiesse and Restylane in combination is an excellent option for facial enhancement. With long-term experience, complications in the lip area with Radiesse treatment are now avoided with the use of Restylane. In contrast to patients treated with Radiesse alone, the combination treatment group in this study tended to have greater immediate and overall satisfaction scores and was more likely to recommend the combination procedure to others.

The use of propranolol in the treatment of subglottic hemangiomas: A literature review and meta-analysis.

OBJECTIVES: 1) Describe the origins of the use of propranolol in the treatment of subglottic hemangiomas, 2) Perform meta-analysis of all case reports and series in which propranolol was used to treat subglottic hemangiomas. STUDY DESIGN: Literature review and meta-analysis. METHODS: A total of 61 cases were identified from 19 scholarly articles. Cases were assessed by parameters including age at diagnosis, presence of other hemangiomas, percent airway obstructed, dose of propranolol, treatment duration, age at therapy termination, use of steroids, and treatment failure. Treatment failure was defined as: 1) Need for surgery after initiation of propranolol, 2) Return of symptoms, or 3) Endoscopic worsening/recurrence of hemangioma. All data was subjected to comprehensive statistical analysis. RESULTS: Though not statistically significant, a trend was noted towards a decreased treatment failure rate with increasing doses of propranolol (p = 0.0563). The use of concurrent steroids was associated with a higher failure rate (p = 0.0487). Notably, no associations were observed between the presence of additional hemangiomas, prior surgery, or increased initial percent airway obstruction with treatment failure. CONCLUSION: Propranolol is rapidly becoming the standard of care in the treatment of subglottic hemangiomas. Despite widespread adoption, the rarity of this condition has limited previous studies to case reports and small series. No evidence-based guidelines exist for proper dosing of propranolol. The results of this meta-analysis suggest a benefit to higher doses of propranolol (3 mg/kg/day), though further investigation is needed.

Prophylactic antibiotic therapy for fractures of the maxillary sinus.

We conducted a study to examine the incidence of acute sinusitis following maxillary sinus fractures, as well as the impact of antibiotics in the postinjury period. Fifty patients who presented to our institution with a fracture of the maxillary sinus were prospectively randomized to receive either a nasal saline spray and a 3-day course of antibiotics (either amoxicillin/clavulanate or levofloxacin) or nasal saline alone; there were 25 patients in each group. After a minimum of 3 days, all patients were assessed for acute sinusitis. Follow-up data were available on 17 patients (a total of 21 fractured sinuses) in the antibiotic group (68%) and 14 patients (17 fractured sinuses) in the control group (56%). The groups were balanced in terms of demographics, location of fractures, mechanism of fracture, and time to follow-up. After 3 days, 95.23% of the fractured sinuses in the antibiotic group and 88.23% of the fractured sinuses in the control group exhibited signs or symptoms consistent with or suggestive of acute sinusitis. Very few sinuses in either group showed no evidence of sinusitis: only 1 in the antibiotic group (4.76%) and 2 in the control group (11.76%); this difference was not significant (p = 0.5768). We conclude that while the clinical rate of acute sinusitis after maxillary sinus fractures is high, a 3-day course of antibiotics is not effective in preventing its symptoms in the postinjury period.

Attainment of surgical competence in otolaryngology training.

OBJECTIVES/HYPOTHESIS: Our aim was to determine the postgraduate year (PGY) of residency at which residents achieve competence in key otolaryngologic procedures as perceived by residents and program directors (PDs), determine resident or programmatic factors affecting PGY at which residents perceive attainment of competence, and evaluate the relationship between resident and PD perceptions for attainment of competence in these procedures. STUDY DESIGN: Cross-sectional survey. METHODS: We surveyed residents and PDs in US otolaryngology residencies in 2011 using SurveyMonkey.com and assessed subjective attainment of competence by residents for 32 otolaryngologic procedures. PGY at which subjective competence achieved per resident perception was determined using a logistic regression model; PD perception was determined by mean calculation. RESULTS: Two hundred seventy-seven residents (19.45%) and 39 PDs (37.86%) completed surveys. Residents achieved subjective competence later than expected by PDs for 25 of 32 procedures, although differences were generally small. The largest disparities were observed for nonsurgical office-based procedures, for which <90% of residents reported competence by PGY-5, whereas PDs expected competence before PGY-3. The greatest number of disparities was present in the subspecialty area of facial plastic and reconstructive surgery. Male gender predicted earlier self-reported attainment of competence in 10 of 32 procedures (P < .05). Degrees held, fellowship plans, and the size of the program were not significant predictors of PGY at which residents reported competence for most procedures. CONCLUSIONS: We provide baseline data on PGY at which residents and PDs feel competence is achieved in key otolaryngologic procedures. These results may guide milestone development for resident training and assessment. LEVEL OF EVIDENCE: NA.

Endoscopic transnasal management of intracranial foreign bodies.

Foreign bodies may be introduced into the paranasal sinuses or cranium through a variety of traumatic or iatrogenic events. A variety of open and, more recently, endoscopic approaches have been used for the removal of sinonasal foreign bodies. Intracranial foreign bodies, however, typically require retrieval via a craniotomy approach, which continues to carry significant perioperative risks. We describe the first reported case of an intracranial foreign body removed using the transnasal endoscopic approach with intraoperative image guidance. We discuss the preoperative evaluation required for this approach to be applied safely and successfully in properly selected cases.

Intratympanic perfusion for the treatment of tinnitus.

Intratympanic treatment of tinnitus with corticosteroids or gentamicin should be considered as an option of treatment in selected tinnitus patients, alone or in combination with standard modalities of management such as tinnitus retraining therapy, masking, and hearing aid amplification. Review of the literature and the authors' experience suggest the following points regarding intratympanic treatment for tinnitus: 1. Lidocaine, although effective in decreasing tinnitus, has been largely abandoned because of its severe side-effect profile and need for inpatient administration. 2. Corticosteroids have been associated with few if any side effects. 3. The good results reported in the literature with intratympanic steroids for treating tinnitus of various causes should be viewed with caution,because most are retrospective and uncontrolled studies. 4. Some Meniere's disease patients with tinnitus may experience tinnitus improvement following intratympanic steroids. This treatment may be considered in such patients, especially for those with good hearing. 5. Gentamicin is effective in eliminating or reducing tinnitus in a significant number of patients with Meniere's disease and may be considered especially for those with nonserviceable hearing. 6. Further prospective, randomized, and controlled studies to evaluate the effect of intratympanic perfusion for the treatment of tinnitus are warranted.

Intratympanic steroid perfusion for the treatment of Ménière's disease: a retrospective study.

We conducted a retrospective outcomes review of the charts of 22 patients with Ménière's disease who were treated with intratympanic perfusion of methylprednisolone and/or dexamethasone. Outcomes were determined by subjective assessment of vertigo control and by objective changes in audiometric pure-tone average (PTA) and speech discrimination score (SDS). These evaluations were made at the first postperfusion visit (short term) and at least 12 months later (long term). In the short term, 12 patients (54.5%) achieved vertigo control, 4 patients (18.2%) demonstrated a greater than 10-dB improvement in PTA, and 1 patient (4.5%) experienced an increase in SDS of at least 15%. In the long term, the corresponding numbers of patients were 4 (18.2%), 2 (9.1%), and 1 (4.5%). The level of hearing ultimately deteriorated in 9 patients (40.9%). These findings suggest that intratympanic steroid perfusion does not result in any long-term alleviation of vertigo or hearing loss. However, the short-term alleviation of vertigo seen in approximately half of these patients suggests that this treatment may be useful for the temporary relief of symptoms of Ménière's disease.

The clinical and audiologic features of hearing loss due to mitochondrial mutations.

OBJECTIVES: To characterize mitochondrial sequence variants present in a nationwide hereditary deafness DNA repository of samples from deaf subjects and to define the clinical presentation and audiometric characteristics of individuals with a mitochondrial sequence variant. STUDY DESIGN: Retrospective review of results for select mitochondrial mutations performed on DNA samples from subjects compiled from 1997 to 2009. SETTING: National hereditary deafness DNA repository. SUBJECTS AND METHODS: Available samples from subjects in the repository were screened to identify those with mitochondrial sequence variants. Clinical data on the nature of mutation, type and severity of the hearing loss, and sex, age at diagnosis, family history of hearing loss, and ethnicity were analyzed. RESULTS: Eighty-six patients were identified with mitochondrial mutations or 3.5% of the subjects studied. Among those with mitochondrial mutations, 21 (24.4%) had the m.7445A>G substitution, 18 (20.9%) had the m.1555A>G substitution, 18 (20.9%) had the m.961T>G substitution, and 29 (33.7%) had a m.961delT+C(n) complex deletion. The majority of patients had bilateral severe to profound hearing loss. Fifty-three (62%) patients were female, and a family history of hearing loss was documented in 66 (76.7%) patients. The deafness was recognized prior to 3 years of age in 26 patients. CONCLUSION: Mitochondrial deafness in this sample was associated with a variety of genetic mutations and a wide spectrum of clinical presentations. Because of increased aminoglycoside susceptibility associated with some forms of mitochondrial deafness, matrilineal relatives may be at risk in those cases, highlighting the importance of making an accurate diagnosis prior to exposure.