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Hearing Disorders: HELP
Articles by Rick A. Friedman
Based on 16 articles published since 2010
(Why 16 articles?)
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Between 2010 and 2020, Rick A. Friedman wrote the following 16 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Review Hearing preservation: microsurgery. 2012

Kari, Elina / Friedman, Rick A. ·The House Clinic, Los Angeles, California, USA. ·Curr Opin Otolaryngol Head Neck Surg · Pubmed #22929113.

ABSTRACT: PURPOSE OF REVIEW: To evaluate the recent and significant contributions to the literature that examine hearing preservation outcomes and prognostic factors in vestibular schwannoma microsurgery. RECENT FINDINGS: Hearing preservation rates overall range considerably between 2 and 93% in recent studies. There are a number of factors that have been reported to be significant in the prediction of hearing preservation. Characteristics such as approach, results of preoperative neurophysiological testing, tumor size and nerve of origin have long been reported. A more recent contribution to the literature has included the association between MRI T2 signal in the fundus of the internal auditory canal and hearing preservation. This review provides a summary of some of the landmark studies in conjunction with more recent work detailing the prognostic factors for hearing preservation in the surgical management of vestibular schwannoma. SUMMARY: Hearing preservation in vestibular schwannoma surgery has undergone tremendous evolution over the past 50 years. In this review, we outline the prognostic factors that predict hearing preservation and describe recent contributions.

2 Article De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. 2018

Schrauwen, Isabelle / Kari, Elina / Mattox, Jacob / Llaci, Lorida / Smeeton, Joanna / Naymik, Marcus / Raible, David W / Knowles, James A / Crump, J Gage / Huentelman, Matthew J / Friedman, Rick A. ·Molecular and Human Genetics Department, Center for Statistical Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. isabelle.schrauwen@gmail.com. · Neurogenomics Division and Center for Rare Childhood Disorders, Translational Genomics Research Institute, 445 N 5th str, Phoenix, AZ, 85004, USA. isabelle.schrauwen@gmail.com. · Division of Otolaryngology, Head and Neck Surgery, Department of Surgery, University of California, San Diego, ECOB-East Campus Office Building Room 3-013, 9444 Medical Center Drive, Mail Code 7220, La Jolla, CA, 92037, USA. · Tina and Rick Caruso Department of Otolaryngology-Head and Neck Surgery, Keck University of Southern California School of Medicine, 1975 Zonal Ave., Los Angeles, CA, 90033, USA. · Neurogenomics Division and Center for Rare Childhood Disorders, Translational Genomics Research Institute, 445 N 5th str, Phoenix, AZ, 85004, USA. · Department of Stem Cell Biology and Regenerative Medicine, University of Southern California Keck School of Medicine, 1975 Zonal Ave., Los Angeles, CA, 90033, USA. · Department of Biological Structure, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA. · Department of Cell Biology-MSC 5, SUNY Downstate Medical Center, 450 Clarkson Avenue, BSB 2-5, Brooklyn, NY, 11203, USA. ·Hum Genet · Pubmed #29955957.

ABSTRACT: Congenital inner ear malformations affecting both the osseous and membranous labyrinth can have a devastating impact on hearing and language development. With the exception of an enlarged vestibular aqueduct, non-syndromic inner ear malformations are rare, and their underlying molecular biology has thus far remained understudied. To identify molecular factors that might be important in the developing inner ear, we adopted a family-based trio exome sequencing approach in young unrelated subjects with severe inner ear malformations. We identified two previously unreported de novo loss-of-function variants in GREB1L [c.4368G>T;p.(Glu1410fs) and c.982C>T;p.(Arg328*)] in two affected subjects with absent cochleae and eighth cranial nerve malformations. The cochlear aplasia in these affected subjects suggests that a developmental arrest or problem at a very early stage of inner ear development exists, e.g., during the otic pit formation. Craniofacial Greb1l RNA expression peaks in mice during this time frame (E8.5). It also peaks in the developing inner ear during E13-E16, after which it decreases in adulthood. The crucial function of Greb1l in craniofacial development is also evidenced in knockout mice, which develop severe craniofacial abnormalities. In addition, we show that Greb1l

3 Article Prevalence of Hearing Loss and Hearing Care Use Among Asian Americans: A Nationally Representative Sample. 2018

Choi, Janet S / Kari, Elina / Friedman, Rick A / Fisher, Laurel M. ·Rick and Tina Caruso Department of Otolaryngology-Head and Neck Surgery, Keck School of Medicine of the University of Southern California. · Department of Otolaryngology-Head and Neck Surgery. · Department of Neurosurgery, University of California, San Diego, La Jolla, California. ·Otol Neurotol · Pubmed #29315179.

ABSTRACT: OBJECTIVE: To assess the prevalence of hearing loss and factors affecting hearing care use among Asian Americans, using the first nationally representative sample of Asian Americans. STUDY DESIGN: National cross-sectional survey. SETTING: Ambulatory examination centers. PATIENTS: Three thousand six hundred twelve adults (522 Asian American) aged 20 to 69 in the 2011 to 2012 National Health and Examination Survey with pure-tone audiometry. MAIN OUTCOME MEASURE(S): Percentage with hearing loss, undertaking a hearing test before the study, and hearing aid use. Hearing loss was defined as better hearing ear speech frequency pure-tone average ≥25 dBHL. Analyses incorporated sampling weights to account for complex sampling design. RESULTS: The prevalence of hearing loss was 6.0% [95% CI 3.1-8.9%] among Asian Americans, comparable to White, Black, and Hispanic groups, and increased substantially with age (OR: 2.25 [95% CI: 1.6-3.2]). After adjusting for age and pure-tone average, Asian Americans with hearing loss were less likely to have received a hearing test compared with White (OR: 0.27 [95% CI: 0.20-0.36, p = <0.001]) and Black groups (OR: 0.26 [95% CI: 0.16-0.38, p<0.001]), less likely to use hearing aids compared with Whites (OR: 0.06 [95% CI: 0.01-0.64], p = 0.02), and less likely to self-report poor hearing compared with Whites (OR: 0.30 [95% CI: 0.10-0.90], p = 0.03). Among Asian Americans, using more non-English than English, being foreign-born, less education, being married, and not having insurance were associated with lower levels of receiving a hearing test. CONCLUSION: The nationally representative sample of Asian Americans with hearing data suggests that hearing loss prevalence is similar to other races/ethnicities. However, hearing aid adoption by Asian Americans tends to be less frequent.

4 Article The Genetic Architecture of Noise-Induced Hearing Loss: Evidence for a Gene-by-Environment Interaction. 2016

Lavinsky, Joel / Ge, Marshall / Crow, Amanda L / Pan, Calvin / Wang, Juemei / Salehi, Pezhman / Myint, Anthony / Eskin, Eleazar / Allayee, Hooman / Lusis, Aldons J / Friedman, Rick A. ·Tina and Rick Caruso Department of Otolaryngology, Zilkha Neurogenetic Institute Graduate Program in Surgical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. · Tina and Rick Caruso Department of Otolaryngology, Zilkha Neurogenetic Institute. · Department of Preventive Medicine and Institute for Genetic Medicine, USC Keck School of Medicine, University of Southern California, Los Angeles, California 90033. · Department of Human Genetics. · Department of Computer Science. · Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, California 90024. · Tina and Rick Caruso Department of Otolaryngology, Zilkha Neurogenetic Institute rick.friedman@med.usc.edu. ·G3 (Bethesda) · Pubmed #27520957.

ABSTRACT: The discovery of environmentally specific genetic effects is crucial to the understanding of complex traits, such as susceptibility to noise-induced hearing loss (NIHL). We describe the first genome-wide association study (GWAS) for NIHL in a large and well-characterized population of inbred mouse strains, known as the Hybrid Mouse Diversity Panel (HMDP). We recorded auditory brainstem response (ABR) thresholds both pre and post 2-hr exposure to 10-kHz octave band noise at 108 dB sound pressure level in 5-6-wk-old female mice from the HMDP (4-5 mice/strain). From the observation that NIHL susceptibility varied among the strains, we performed a GWAS with correction for population structure and mapped a locus on chromosome 6 that was statistically significantly associated with two adjacent frequencies. We then used a "genetical genomics" approach that included the analysis of cochlear eQTLs to identify candidate genes within the GWAS QTL. In order to validate the gene-by-environment interaction, we compared the effects of the postnoise exposure locus with that from the same unexposed strains. The most significant SNP at chromosome 6 (rs37517079) was associated with noise susceptibility, but was not significant at the same frequencies in our unexposed study. These findings demonstrate that the genetic architecture of NIHL is distinct from that of unexposed hearing levels and provide strong evidence for gene-by-environment interactions in NIHL.

5 Article Large-scale phenotyping of noise-induced hearing loss in 100 strains of mice. 2016

Myint, Anthony / White, Cory H / Ohmen, Jeffrey D / Li, Xin / Wang, Juemei / Lavinsky, Joel / Salehi, Pezhman / Crow, Amanda L / Ohyama, Takahiro / Friedman, Rick A. ·Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, 1501 San Pablo Street, Los Angeles, CA 90089-2821, USA. · Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, 1501 San Pablo Street, Los Angeles, CA 90089-2821, USA; Bioinformatics and Systems Biology Program, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0419, USA. · Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, 1501 San Pablo Street, Los Angeles, CA 90089-2821, USA; Department of Cell Biology and Genetics, House Research Institute, Los Angeles, CA 90057, USA. · Department of Preventive Medicine, Keck School of Medicine of USC, 2250 Alcazar St, Los Angeles, CA 90089-9073, USA. · Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, 1501 San Pablo Street, Los Angeles, CA 90089-2821, USA; Department of Cell Biology and Genetics, House Research Institute, Los Angeles, CA 90057, USA. Electronic address: rick.friedman@med.usc.edu. ·Hear Res · Pubmed #26706709.

ABSTRACT: A cornerstone technique in the study of hearing is the Auditory Brainstem Response (ABR), an electrophysiologic technique that can be used as a quantitative measure of hearing function. Previous studies have published databases of baseline ABR thresholds for mouse strains, providing a valuable resource for the study of baseline hearing function and genetic mapping of hearing traits in mice. In this study, we further expand upon the existing literature by characterizing the baseline ABR characteristics of 100 inbred mouse strains, 47 of which are newly characterized for hearing function. We identify several distinct patterns of baseline hearing deficits and provide potential avenues for further investigation. Additionally, we characterize the sensitivity of the same 100 strains to noise exposure using permanent thresholds shifts, identifying several distinct patterns of noise-sensitivity. The resulting data provides a new resource for studying hearing loss and noise-sensitivity in mice.

6 Article A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear. 2016

Schrauwen, Isabelle / Hasin-Brumshtein, Yehudit / Corneveaux, Jason J / Ohmen, Jeffrey / White, Cory / Allen, April N / Lusis, Aldons J / Van Camp, Guy / Huentelman, Matthew J / Friedman, Rick A. ·Department of Medical Genetics, University of Antwerp, 2610 Antwerp, Belgium. · Neurogenomics Division and The Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute, 85004 Phoenix, AZ. · Department of Medicine/Division of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. · House Ear Institute, Los Angeles 90057, CA, United States. · Keck School of Medicine, USC, Los Angeles, CA, United States. ·Hear Res · Pubmed #26341477.

ABSTRACT: The mammalian inner ear consists of the cochlea and the vestibular labyrinth (utricle, saccule, and semicircular canals), which participate in both hearing and balance. Proper development and life-long function of these structures involves a highly complex coordinated system of spatial and temporal gene expression. The characterization of the inner ear transcriptome is likely important for the functional study of auditory and vestibular components, yet, primarily due to tissue unavailability, detailed expression catalogues of the human inner ear remain largely incomplete. We report here, for the first time, comprehensive transcriptome characterization of the adult human cochlea, ampulla, saccule and utricle of the vestibule obtained from patients without hearing abnormalities. Using RNA-Seq, we measured the expression of >50,000 predicted genes corresponding to approximately 200,000 transcripts, in the adult inner ear and compared it to 32 other human tissues. First, we identified genes preferentially expressed in the inner ear, and unique either to the vestibule or cochlea. Next, we examined expression levels of specific groups of potentially interesting RNAs, such as genes implicated in hearing loss, long non-coding RNAs, pseudogenes and transcripts subject to nonsense mediated decay (NMD). We uncover the spatial specificity of expression of these RNAs in the hearing/balance system, and reveal evidence of tissue specific NMD. Lastly, we investigated the non-syndromic deafness loci to which no gene has been mapped, and narrow the list of potential candidates for each locus. These data represent the first high-resolution transcriptome catalogue of the adult human inner ear. A comprehensive identification of coding and non-coding RNAs in the inner ear will enable pathways of auditory and vestibular function to be further defined in the study of hearing and balance. Expression data are freely accessible at https://www.tgen.org/home/research/research-divisions/neurogenomics/supplementary-data/inner-ear-transcriptome.aspx.

7 Article The Genetic Architecture of Hearing Impairment in Mice: Evidence for Frequency-Specific Genetic Determinants. 2015

Crow, Amanda L / Ohmen, Jeffrey / Wang, Juemei / Lavinsky, Joel / Hartiala, Jaana / Li, Qingzhong / Li, Xin / Salehide, Pezhman / Eskin, Eleazar / Pan, Calvin / Lusis, Aldons J / Allayee, Hooman / Friedman, Rick A. ·Department of Preventive Medicine and Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90033. · House Ear Institute, Los Angeles, California 90057. · Department of Otolaryngology and Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California 90033. · Department of Otolaryngology, Head and Neck Surgery, Eye & ENT Hospital of Fudan University, Shanghai 200031, China. · Clinical Laboratory Department, First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi Province 330006, China. · Department of Computer Science and Inter-Departmental Program in Bioinformatics, University of California, Los Angeles, California 90095. · Departments of Human Genetics, Medicine, and Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California 90095. · Department of Otolaryngology and Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California 90033 rick.friedman@med.usc.edu. ·G3 (Bethesda) · Pubmed #26342000.

ABSTRACT: Genome-wide association studies (GWAS) have been successfully applied in humans for the study of many complex phenotypes. However, identification of the genetic determinants of hearing in adults has been hampered, in part, by the relative inability to control for environmental factors that might affect hearing throughout the lifetime, as well as a large degree of phenotypic heterogeneity. These and other factors have limited the number of large-scale studies performed in humans that have identified candidate genes that contribute to the etiology of this complex trait. To address these limitations, we performed a GWAS analysis using a set of inbred mouse strains from the Hybrid Mouse Diversity Panel. Among 99 strains characterized, we observed approximately two-fold to five-fold variation in hearing at six different frequencies, which are differentiated biologically from each other by the location in the cochlea where each frequency is registered. Among all frequencies tested, we identified a total of nine significant loci, several of which contained promising candidate genes for follow-up study. Taken together, our results indicate the existence of both genes that affect global cochlear function, as well as anatomical- and frequency-specific genes, and further demonstrate the complex nature of mammalian hearing variation.

8 Article Genome-wide association study identifies nox3 as a critical gene for susceptibility to noise-induced hearing loss. 2015

Lavinsky, Joel / Crow, Amanda L / Pan, Calvin / Wang, Juemei / Aaron, Ksenia A / Ho, Maria K / Li, Qingzhong / Salehide, Pehzman / Myint, Anthony / Monges-Hernadez, Maya / Eskin, Eleazar / Allayee, Hooman / Lusis, Aldons J / Friedman, Rick A. ·Graduate Program in Surgical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil; Department of Otolaryngology, Zilkha Neurogenetic Institute, USC Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America. · Department of Preventive Medicine and Institute for Genetic Medicine, USC Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America. · Department of Human Genetics, University of California, Los Angeles, Los Angeles, California, United States of America. · Department of Otolaryngology, Zilkha Neurogenetic Institute, USC Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America. · Department of Computer Science, University of California, Los Angeles, Los Angeles, California, United States of America. · Department of Preventive Medicine and Institute for Genetic Medicine, USC Keck School of Medicine, University of Southern California, Los Angeles, California, United States of America; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, Los Angeles, California, United States of America. ·PLoS Genet · Pubmed #25880434.

ABSTRACT: In the United States, roughly 10% of the population is exposed daily to hazardous levels of noise in the workplace. Twin studies estimate heritability for noise-induced hearing loss (NIHL) of approximately 36%, and strain specific variation in sensitivity has been demonstrated in mice. Based upon the difficulties inherent to the study of NIHL in humans, we have turned to the study of this complex trait in mice. We exposed 5 week-old mice from the Hybrid Mouse Diversity Panel (HMDP) to a 10 kHz octave band noise at 108 dB for 2 hours and assessed the permanent threshold shift 2 weeks post exposure using frequency specific stimuli. These data were then used in a genome-wide association study (GWAS) using the Efficient Mixed Model Analysis (EMMA) to control for population structure. In this manuscript we describe our GWAS, with an emphasis on a significant peak for susceptibility to NIHL on chromosome 17 within a haplotype block containing NADPH oxidase-3 (Nox3). Our peak was detected after an 8 kHz tone burst stimulus. Nox3 mutants and heterozygotes were then tested to validate our GWAS. The mutants and heterozygotes demonstrated a greater susceptibility to NIHL specifically at 8 kHz both on measures of distortion product otoacoustic emissions (DPOAE) and on auditory brainstem response (ABR). We demonstrate that this sensitivity resides within the synaptic ribbons of the cochlea in the mutant animals specifically at 8 kHz. Our work is the first GWAS for NIHL in mice and elucidates the power of our approach to identify tonotopic genetic susceptibility to NIHL.

9 Article A case report of two different skull base pathologies causing hearing loss in the same ear: vestibular schwannoma and superior semicircular canal dehiscence. 2015

Aaron, Ksenia A / Lavinsky, Joel / Tuchman, Alexander / Go, John L / Giannotta, Steven L / Friedman, Rick A. ·Department of Otolaryngology - Head and Neck Surgery, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA. Electronic address: ksenia.aaron@med.usc.edu. · Department of Otolaryngology - Head and Neck Surgery, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA. · Department of Neurosurgery, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA. · Department of Radiology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA. ·Am J Otolaryngol · Pubmed #25720919.

ABSTRACT: Vestibular schwannoma and superior semicircular canal dehiscence are both uncommon entities, especially when present in the same ear. Here we illustrate how both of these pathologies can be repaired through the same surgical exposure, of the middle cranial fossa, with complete preservation of the cochlear nerve function and relief of symptoms caused by canal dehiscence.

10 Article Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. 2015

Fransen, Erik / Bonneux, Sarah / Corneveaux, Jason J / Schrauwen, Isabelle / Di Berardino, Federica / White, Cory H / Ohmen, Jeffrey D / Van de Heyning, Paul / Ambrosetti, Umberto / Huentelman, Matthew J / Van Camp, Guy / Friedman, Rick A. ·1] Center for Medical Genetics, University of Antwerp, Antwerp, Belgium [2] StatUa Center for Statistics, University of Antwerp, Antwerp, Belgium. · Center for Medical Genetics, University of Antwerp, Antwerp, Belgium. · Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA. · 1] Center for Medical Genetics, University of Antwerp, Antwerp, Belgium [2] StatUa Center for Statistics, University of Antwerp, Antwerp, Belgium [3] Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA. · 1] Audiology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy [2] Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. · Cell Biology and Genetics Division, House Research Institute, Los Angeles, CA, USA. · Department of Otolaryngology, University Hospital of Antwerp, Edegem, Belgium. ·Eur J Hum Genet · Pubmed #24939585.

ABSTRACT: We performed a genome-wide association study (GWAS) to identify the genes responsible for age-related hearing impairment (ARHI), the most common form of hearing impairment in the elderly. Analysis of common variants, with and without adjustment for stratification and environmental covariates, rare variants and interactions, as well as gene-set enrichment analysis, showed no variants with genome-wide significance. No evidence for replication of any previously reported genes was found. A study of the genetic architecture indicates for the first time that ARHI is highly polygenic in nature, with probably no major genes involved. The phenotype depends on the aggregated effect of a large number of SNPs, of which the individual effects are undetectable in a modestly powered GWAS. We estimated that 22% of the variance in our data set can be explained by the collective effect of all genotyped SNPs. A score analysis showed a modest enrichment in causative SNPs among the SNPs with a P-value below 0.01.

11 Article Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysis. 2014

Ohmen, Jeffrey / Kang, Eun Yong / Li, Xin / Joo, Jong Wha / Hormozdiari, Farhad / Zheng, Qing Yin / Davis, Richard C / Lusis, Aldons J / Eskin, Eleazar / Friedman, Rick A. ·Department of Cell and Molecular Biology and Genetics, House Research Institute, Los Angeles, CA, USA. ·J Assoc Res Otolaryngol · Pubmed #24570207.

ABSTRACT: Age-related hearing loss (AHL) is characterized by a symmetric sensorineural hearing loss primarily in high frequencies and individuals have different levels of susceptibility to AHL. Heritability studies have shown that the sources of this variance are both genetic and environmental, with approximately half of the variance attributable to hereditary factors as reported by Huag and Tang (Eur Arch Otorhinolaryngol 267(8):1179-1191, 2010). Only a limited number of large-scale association studies for AHL have been undertaken in humans, to date. An alternate and complementary approach to these human studies is through the use of mouse models. Advantages of mouse models include that the environment can be more carefully controlled, measurements can be replicated in genetically identical animals, and the proportion of the variability explained by genetic variation is increased. Complex traits in mouse strains have been shown to have higher heritability and genetic loci often have stronger effects on the trait compared to humans. Motivated by these advantages, we have performed the first genome-wide association study of its kind in the mouse by combining several data sets in a meta-analysis to identify loci associated with age-related hearing loss. We identified five genome-wide significant loci (<10(-6)). One of these loci confirmed a previously identified locus (ahl8) on distal chromosome 11 and greatly narrowed the candidate region. Specifically, the most significant associated SNP is located 450 kb upstream of Fscn2. These data confirm the utility of this approach and provide new high-resolution mapping information about variation within the mouse genome associated with hearing loss.

12 Article Total ossiculoplasty: short- and long-term results using a titanium prosthesis with footplate shoe. 2014

Fayad, Jose N / Ursick, Joseph / Brackmann, Derald E / Friedman, Rick A. ·*House Clinic and House Research Institute, Los Angeles, California; and †Otologic Center, Kansas City, Missouri, U.S.A. (previously, Clinical Fellow, House Clinic and House Research Institute, Los Angeles, California, U.S.A.). ·Otol Neurotol · Pubmed #24270724.

ABSTRACT: OBJECTIVES: Review experience using a titanium TORP with a footplate shoe; compare early and long-term hearing results and complications with those obtained using a TORP alone. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary referral neurotologic private practice. PATIENTS: Patients undergoing total ossicular replacement with a titanium prosthesis (total ossicular reconstruction prosthesis [TORP]); 74 with a TORP + footplate shoe and 62 with TORP alone. INTERVENTION: Ossicular chain reconstruction with a titanium TORP. MAIN OUTCOME MEASURES: Short- and long-term air-bone gap (ABG), change in ABG from preoperative to postoperative and from postoperative to last recorded follow-up, sensorineural hearing loss. RESULTS: The shoe group had a smaller mean postoperative ABG (17.7 dB versus 21.6 dB, p ≤ 0.048) and a greater average amount of closure in ABG (21.9 dB versus 13.2 dB, p ≤ 0.004), but there was no significant difference in percentage of patients achieving a postoperative ABG of 20 dB or lesser (57.4% versus 61.6%). There were no differences between groups at long-term follow-up or in amount of change in ABG from postoperative to last audiogram or in amount of change in sensorineural hearing from preoperative to postoperative. Although surgical factors (number of previous surgeries, and presence of a cavity) impacted outcomes, there were no interactions with prosthesis group and no differences in complications between groups. CONCLUSION: Ossicular reconstruction still presents challenges. A titanium prosthesis with a "shoe" for stabilization may offer advantages. Results in this study consistently favored the TORP + shoe group,although not all differences achieved statistical significance. A larger study might better define possible advantages of the shoe prosthesis for specific subgroups of patients.

13 Article Functional variants of MIF, INFG and TFNA genes are not associated with disease susceptibility or hearing loss progression in patients with Ménière's disease. 2013

Gázquez, Irene / Moreno, Antonia / Requena, Teresa / Ohmen, Jeff / Santos-Perez, Sofia / Aran, Ismael / Soto-Varela, Andres / Pérez-Garrigues, Herminio / López-Nevot, Alicia / Batuecas, Angel / Friedman, Rick A / López-Nevot, Miguel A / López-Escamez, Jose A. ·Otology and Neurotology Group CTS495, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada-Junta de Andalucía (GENyO), Avda. de la Ilustración, 114, 18014 Granada, Spain. ·Eur Arch Otorhinolaryngol · Pubmed #23179933.

ABSTRACT: Variability in acute immune response genes could determine susceptibility or prognosis for Ménière's disease (MD). The cytokines tumor necrosis factor α (TNFα), macrophage migration inhibitory factor (MIF) and interferon γ (INFγ) are proinflammatory cytokines of the innate immune response. These cytokines mediate inflammation and have been previously associated with the inflammatory process in several autoimmune diseases. We investigated the association between functional allelic variants of MIF (rs35688089), IFNG (rs2234688) and TNFA (rs1800629) in patients with MD. In addition to testing these variants for an association with disease, we also tested for an association with clinical aspects of disease progression, such as persistence of vertigo and the sensorineural hearing loss. A total of 580 patients with diagnosis of definite MD, according to the diagnostic scale of the American Academy of Otolaryngology-Head and Neck Surgery, and 552 healthy controls were included. DNA samples from a set of 291 American patients were used to confirm the results obtained in the MIF gene in our Spanish cohort. Although we found a significant association with the allele containing five repeats of CATT within the MIF gene in patients with MD in the Spanish cohort [corrected p = 0.008, OR = 0.69 (95 % CI, 0.54-0.88)], this finding could not be replicated in the American set. Moreover, no genetic associations for variants in either the TNFA or IFNG genes and MD were found. These results support the conclusion that functional variants of MIF, INFG, and TFNA genes are not associated with disease susceptibility or hearing loss progression in patients with MD.

14 Article GRM7 variants associated with age-related hearing loss based on auditory perception. 2012

Newman, Dina L / Fisher, Laurel M / Ohmen, Jeffrey / Parody, Robert / Fong, Chin-To / Frisina, Susan T / Mapes, Frances / Eddins, David A / Robert Frisina, D / Frisina, Robert D / Friedman, Rick A. ·Thomas H. Gosnell School of Life Sciences, Rochester Institute of Technology, 153 Lomb Memorial Dr. Rochester, NY 14623, USA. dina.newman@rit.edu ·Hear Res · Pubmed #23102807.

ABSTRACT: Age-related hearing impairment (ARHI), or presbycusis, is a common condition of the elderly that results in significant communication difficulties in daily life. Clinically, it has been defined as a progressive loss of sensitivity to sound, starting at the high frequencies, inability to understand speech, lengthening of the minimum discernable temporal gap in sounds, and a decrease in the ability to filter out background noise. The causes of presbycusis are likely a combination of environmental and genetic factors. Previous research into the genetics of presbycusis has focused solely on hearing as measured by pure-tone thresholds. A few loci have been identified, based on a best ear pure-tone average phenotype, as having a likely role in susceptibility to this type of hearing loss; and GRM7 is the only gene that has achieved genome-wide significance. We examined the association of GRM7 variants identified from the previous study, which used an European cohort with Z-scores based on pure-tone thresholds, in a European-American population from Rochester, NY (N = 687), and used novel phenotypes of presbycusis. In the present study mixed modeling analyses were used to explore the relationship of GRM7 haplotype and SNP genotypes with various measures of auditory perception. Here we show that GRM7 alleles are associated primarily with peripheral measures of hearing loss, and particularly with speech detection in older adults.

15 Article Oral steroid treatment for hearing improvement in Ménière's disease and endolymphatic hydrops. 2012

Fisher, Laurel M / Derebery, M Jennifer / Friedman, Rick A. ·House Research Institute, Los Angeles, California 90057, USA. ·Otol Neurotol · Pubmed #23047260.

ABSTRACT: OBJECTIVE: To determine the effect of oral steroid treatment on hearing in unilateral Ménière's disease and endolymphatic hydrops patients. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary referral center. PATIENTS: All patients presenting during the 2010 calendar year with confirmed unilateral Ménière's disease or endolymphatic hydrops. Those with a first visit and second visit audiogram (n = 58) were included in the analysis of oral steroid treatment effect. INTERVENTION: Steroid treatment for hearing loss. MAIN OUTCOME MEASURE: Change in hearing, as defined by change in affected ear threshold values or speech discrimination score from pretreatment visit to posttreatment visit. RESULTS: Hearing (threshold, speech discrimination score) in patients' affected ear did not significantly change from first visit to second visit after treatment with steroids relative to patients who did not receive steroid treatment. CONCLUSION: The results of this and other studies would indicate that a Ménière's disease or endolymphatic hydrops patient is unlikely to experience an improvement in hearing from a short course of oral steroid. Clinically observed temporary improvement did not sustain over several months. Further work to elucidate the mechanisms underlying hearing loss in hydrops, perhaps focusing on the dendrite damage noted in animal models of hydrops, is warranted.

16 Article Middle fossa decompression for hearing preservation: a review of institutional results and indications. 2011

Slattery, William H / Hoa, Michael / Bonne, Nicolas / Friedman, Rick A / Schwartz, Marc S / Fisher, Laurel M / Brackmann, Derald E. ·House Research Institute and House Clinic, Los Angeles, CA90057, USA. wslattery@hei.org ·Otol Neurotol · Pubmed #21725256.

ABSTRACT: OBJECTIVE: To assess the duration of hearing preservation from time of vestibular schwannoma middle fossa decompression with short-term and 1-year hearing preservation rates. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Patients with and without neurofibromatosis type 2 who underwent middle fossa decompression. We excluded patients without tumor size or audiograms at initial diagnosis or follow-up less than 3 months. INTERVENTIONS: Middle cranial fossa decompression, audiometry, and magnetic resonance imaging. MAIN OUTCOME MEASURES: Period of hearing maintenance (from surgery to longest time point that preoperative American Academy of Otolaryngology-Head and Neck Surgery [AAO-HNS] hearing class maintained or improved), short-term hearing preservation (within 3 mo of surgery), and 1-year hearing preservation. RESULTS: A total of 49 patients underwent middle fossa decompression of vestibular schwannoma. Approximately 90% of patients had documented hearing loss before surgery, and more than 50% of patients exhibited significant tumor growth before surgery. Of these surgeries, more than 90% were performed in patients with hearing loss in an only hearing ear, and more than 90% were patients with neurofibromatosis type 2. The mean period of hearing maintenance was 2.1 years. The short-term hearing preservation rate as measured by the change from preoperative AAO-HNS hearing class was approximately 90%. The 1-year hearing preservation rate as measured by change from preoperative AAO-HNS hearing class was 63%. CONCLUSION: Middle fossa decompression for vestibular schwannoma can prolong hearing in patients with hearing changes in an only hearing ear. Understanding the duration of hearing preservation can enable more effective counseling of patients considering middle cranial fossa decompression for vestibular schwannoma.