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Sample records for hearing gene prestin

  1. Hearing aid for vertebrates via multiple episodic adaptive events on prestin genes.

    PubMed

    Liu, Zhen; Li, Gong-Hua; Huang, Jing-Fei; Murphy, Robert W; Shi, Peng

    2012-09-01

    Auditory detection is essential for survival and reproduction of vertebrates, yet the genetic changes underlying the evolution and diversity of hearing are poorly documented. Recent discoveries concerning prestin, which is responsible for cochlear amplification by electromotility, provide an opportunity to redress this situation. We identify prestin genes from the genomes of 14 vertebrates, including three fishes, one amphibian, one lizard, one bird, and eight mammals. An evolutionary analysis of these sequences and 34 previously known prestin genes reveals for the first time that this hearing gene was under positive selection in the most recent common ancestor (MRCA) of tetrapods. This discovery might document the genetic basis of enhanced high sound sensibility in tetrapods. An investigation of the adaptive gain and evolution of electromotility, an important evolutionary innovation for the highest hearing ability of mammals, detects evidence for positive selections on the MRCA of mammals, therians, and placentals, respectively. It is suggested that electromotility determined by prestin might initially appear in the MRCA of mammals, and its functional improvements might occur in the MRCA of therian and placental mammals. Our patch clamp experiments further support this hypothesis, revealing the functional divergence of voltage-dependent nonlinear capacitance of prestin from platypus, opossum, and gerbil. Moreover, structure-based cdocking analyses detect positively selected amino acids in the MRCA of placental mammals that are key residues in sulfate anion transport. This study provides new insights into the adaptation and functional diversity of hearing sensitivity in vertebrates by evolutionary and functional analysis of the hearing gene prestin. PMID:22416033

  2. Parallel sites implicate functional convergence of the hearing gene prestin among echolocating mammals.

    PubMed

    Liu, Zhen; Qi, Fei-Yan; Zhou, Xin; Ren, Hai-Qing; Shi, Peng

    2014-09-01

    Echolocation is a sensory system whereby certain mammals navigate and forage using sound waves, usually in environments where visibility is limited. Curiously, echolocation has evolved independently in bats and whales, which occupy entirely different environments. Based on this phenotypic convergence, recent studies identified several echolocation-related genes with parallel sites at the protein sequence level among different echolocating mammals, and among these, prestin seems the most promising. Although previous studies analyzed the evolutionary mechanism of prestin, the functional roles of the parallel sites in the evolution of mammalian echolocation are not clear. By functional assays, we show that a key parameter of prestin function, 1/α, is increased in all echolocating mammals and that the N7T parallel substitution accounted for this functional convergence. Moreover, another parameter, V1/2, was shifted toward the depolarization direction in a toothed whale, the bottlenose dolphin (Tursiops truncatus) and a constant-frequency (CF) bat, the Stoliczka's trident bat (Aselliscus stoliczkanus). The parallel site of I384T between toothed whales and CF bats was responsible for this functional convergence. Furthermore, the two parameters (1/α and V1/2) were correlated with mammalian high-frequency hearing, suggesting that the convergent changes of the prestin function in echolocating mammals may play important roles in mammalian echolocation. To our knowledge, these findings present the functional patterns of echolocation-related genes in echolocating mammals for the first time and rigorously demonstrate adaptive parallel evolution at the protein sequence level, paving the way to insights into the molecular mechanism underlying mammalian echolocation. PMID:24951728

  3. Parallel sites implicate functional convergence of the hearing gene prestin among echolocating mammals.

    PubMed

    Liu, Zhen; Qi, Fei-Yan; Zhou, Xin; Ren, Hai-Qing; Shi, Peng

    2014-09-01

    Echolocation is a sensory system whereby certain mammals navigate and forage using sound waves, usually in environments where visibility is limited. Curiously, echolocation has evolved independently in bats and whales, which occupy entirely different environments. Based on this phenotypic convergence, recent studies identified several echolocation-related genes with parallel sites at the protein sequence level among different echolocating mammals, and among these, prestin seems the most promising. Although previous studies analyzed the evolutionary mechanism of prestin, the functional roles of the parallel sites in the evolution of mammalian echolocation are not clear. By functional assays, we show that a key parameter of prestin function, 1/α, is increased in all echolocating mammals and that the N7T parallel substitution accounted for this functional convergence. Moreover, another parameter, V1/2, was shifted toward the depolarization direction in a toothed whale, the bottlenose dolphin (Tursiops truncatus) and a constant-frequency (CF) bat, the Stoliczka's trident bat (Aselliscus stoliczkanus). The parallel site of I384T between toothed whales and CF bats was responsible for this functional convergence. Furthermore, the two parameters (1/α and V1/2) were correlated with mammalian high-frequency hearing, suggesting that the convergent changes of the prestin function in echolocating mammals may play important roles in mammalian echolocation. To our knowledge, these findings present the functional patterns of echolocation-related genes in echolocating mammals for the first time and rigorously demonstrate adaptive parallel evolution at the protein sequence level, paving the way to insights into the molecular mechanism underlying mammalian echolocation.

  4. Prestin regulation and function in residual outer hair cells after noise-induced hearing loss.

    PubMed

    Xia, Anping; Song, Yohan; Wang, Rosalie; Gao, Simon S; Clifton, Will; Raphael, Patrick; Chao, Sung-il; Pereira, Fred A; Groves, Andrew K; Oghalai, John S

    2013-01-01

    The outer hair cell (OHC) motor protein prestin is necessary for electromotility, which drives cochlear amplification and produces exquisitely sharp frequency tuning. Tecta(C1509G) transgenic mice have hearing loss, and surprisingly have increased OHC prestin levels. We hypothesized, therefore, that prestin up-regulation may represent a generalized response to compensate for a state of hearing loss. In the present study, we sought to determine the effects of noise-induced hearing loss on prestin expression. After noise exposure, we performed cytocochleograms and observed OHC loss only in the basal region of the cochlea. Next, we patch clamped OHCs from the apical turn (9-12 kHz region), where no OHCs were lost, in noise-exposed and age-matched control mice. The non-linear capacitance was significantly higher in noise-exposed mice, consistent with higher functional prestin levels. We then measured prestin protein and mRNA levels in whole-cochlea specimens. Both Western blot and qPCR studies demonstrated increased prestin expression after noise exposure. Finally, we examined the effect of the prestin increase in vivo following noise damage. Immediately after noise exposure, ABR and DPOAE thresholds were elevated by 30-40 dB. While most of the temporary threshold shifts recovered within 3 days, there were additional improvements over the next month. However, DPOAE magnitudes, basilar membrane vibration, and CAP tuning curve measurements from the 9-12 kHz cochlear region demonstrated no differences between noise-exposed mice and control mice. Taken together, these data indicate that prestin is up-regulated by 32-58% in residual OHCs after noise exposure and that the prestin is functional. These findings are consistent with the notion that prestin increases in an attempt to partially compensate for reduced force production because of missing OHCs. However, in regions where there is no OHC loss, the cochlea is able to compensate for the excess prestin in order to

  5. Prestin-Dependence of Outer Hair Cell Survival and Partial Rescue of Outer Hair Cell Loss in PrestinV499G/Y501H Knockin Mice.

    PubMed

    Cheatham, Mary Ann; Edge, Roxanne M; Homma, Kazuaki; Leserman, Emily L; Dallos, Peter; Zheng, Jing

    2015-01-01

    A knockin (KI) mouse expressing mutated prestinV499G/Y501H (499 prestin) was created to study cochlear amplification. Recordings from isolated outer hair cells (OHC) in this mutant showed vastly reduced electromotility and, as a consequence, reduced hearing sensitivity. Although 499 prestin OHCs were normal in stiffness and longer than OHCs lacking prestin, accelerated OHC death was unexpectedly observed relative to that documented in prestin knockout (KO) mice. These observations imply an additional role of prestin in OHC maintenance besides its known requirement for mammalian cochlear amplification. In order to gain mechanistic insights into prestin-associated OHC loss, we implemented several interventions to improve survival. First, 499 prestin KI's were backcrossed to Bak KO mice, which lack the mitochondrial pro-apoptotic gene Bak. Because oxidative stress is implicated in OHC death, another group of 499 prestin KI mice was fed the antioxidant diet, Protandim. 499 KI mice were also backcrossed onto the FVB murine strain, which retains excellent high-frequency hearing well into adulthood, to reduce the compounding effect of age-related hearing loss associated with the original 499 prestin KIs. Finally, a compound heterozygous (chet) mouse expressing one copy of 499 prestin and one copy of KO prestin was also created to reduce quantities of 499 prestin protein. Results show reduction in OHC death in chets, and in 499 prestin KIs on the FVB background, but only a slight improvement in OHC survival for mice receiving Protandim. We also report that improved OHC survival in 499 prestin KIs had little effect on hearing phenotype, reaffirming the original contention about the essential role of prestin's motor function in cochlear amplification. PMID:26682723

  6. Prestin as a biochemical marker for early detection of acquired sensorineural hearing loss.

    PubMed

    Parham, Kourosh

    2015-08-01

    Acquired sensorineural hearing loss and tinnitus can come about through various etiologies such as exposure to excessively loud noise or drugs with ototoxic properties. As such, acquired hearing loss is a common source of morbidity which deleteriously affects the ability to communicate. At present our ability to detect acquired hearing loss and tinnitus at its earliest stages is limited and there are no adjuncts to audiometric evaluation. The earliest cellular targets of noise and ototoxins in the cochlea are the outer hair cells (OHC). I hypothesize that serum assays of OHC specific protein, prestin, will allow detection and quantification of OHC damage before audiometric testing can identify presence of hearing loss. At present, there are no data available to evaluate this hypothesis, but initial evaluation can readily be carried out using existing experimental animal models of ototoxicity and noise-induced hearing loss. Early detection of OHC damage is critical to adoption of measures aimed at ameliorating hearing loss and tinnitus, thus reducing permanent deficits and disability. PMID:25920562

  7. Reduction in noise-induced functional loss of the cochleae in mice with pre-existing cochlear dysfunction due to genetic interference of prestin.

    PubMed

    Cai, Qunfeng; Wang, Bo; Coling, Donald; Zuo, Jian; Fang, Jie; Yang, Shiming; Vera, Krystal; Hu, Bo Hua

    2014-01-01

    Various cochlear pathologies, such as acoustic trauma, ototoxicity and age-related degeneration, cause hearing loss. These pre-existing hearing losses can alter cochlear responses to subsequent acoustic overstimulation. So far, the knowledge on the impacts of pre-existing hearing loss caused by genetic alteration of cochlear genes is limited. Prestin is the motor protein expressed exclusively in outer hair cells in the mammalian cochlea. This motor protein contributes to outer hair cell motility. At present, it is not clear how the interference of prestin function affects cochlear responses to acoustic overstimulation. To address this question, a genetic model of prestin dysfunction in mice was created by inserting an internal ribosome entry site (IRES)-CreERT2-FRT-Neo-FRT cassette into the prestin locus after the stop codon. Homozygous mice exhibit a threshold elevation of auditory brainstem responses with large individual variation. These mice also display a threshold elevation and a shift of the input/output function of the distortion product otoacoustic emission, suggesting a reduction in outer hair cell function. The disruption of prestin function reduces the threshold shifts caused by exposure to a loud noise at 120 dB (sound pressure level) for 1 h. This reduction is positively correlated with the level of pre-noise cochlear dysfunction and is accompanied by a reduced change in Cdh1 expression, suggesting a reduction in molecular responses to the acoustic overstimulation. Together, these results suggest that prestin interference reduces cochlear stress responses to acoustic overstimulation.

  8. Prestin and the good vibrations

    PubMed Central

    Birke, Anna Sofia; Javelle, Arnaud

    2016-01-01

    In a recent paper published in the Biochemical Journal, Lolli et al. presented evidence that the C-terminal STAS (sulfate transporter and anti-sigma factor antagonist) domain of the motor protein prestin possesses an anion-binding site. This discovery might shed light on an aspect of the function of this mysterious and fascinating protein that is crucial for the human hearing system. PMID:27470595

  9. Genes and Hearing Loss

    MedlinePlus

    ... Meeting Calendar Find an ENT Doctor Near You Genes and Hearing Loss Genes and Hearing Loss Patient ... mutation may only have dystopia canthorum. How Do Genes Work? Genes are a road map for the ...

  10. Stable Expression of the Motor Protein Prestin in Chinese Hamster Ovary Cells

    NASA Astrophysics Data System (ADS)

    Iida, Koji; Konno, Kazuaki; Oshima, Takeshi; Tsumoto, Kouhei; Ikeda, Katsuhisa; Kumagai, Izumi; Kobayashi, Toshimitsu; Wada, Hiroshi

    Mammalian hearing sensitivity relies on a mechanical amplification mechanism involving the outer hair cells (OHCs), which rapidly alter their longitudinal length in response to changes in their membrane potential. The molecular basis of this mechanism is thought to be a motor protein embedded in the lateral membrane of the OHCs. Recently, this motor protein was identified and termed prestin. Since then, prestin has been researched intensively to elucidate the behavior of the OHCs. However, little progress in the study of prestin at the molecular level has been made because no method of obtaining an adequate amount of prestin has been established. In this study, therefore, an attempt was made to construct a stable expression system of prestin using Chinese hamster ovary (CHO) cells. The expression of prestin in the transfected CHO cells and the activity of prestin on CHO cells were confirmed by immunofluorescence and whole-cell patch-clamp measurements, respectively.

  11. Activity-dependent regulation of prestin expression in mouse outer hair cells

    PubMed Central

    Song, Yohan; Xia, Anping; Lee, Hee Yoon; Wang, Rosalie; Ricci, Anthony J.

    2015-01-01

    Prestin is a membrane protein necessary for outer hair cell (OHC) electromotility and normal hearing. Its regulatory mechanisms are unknown. Several mouse models of hearing loss demonstrate increased prestin, inspiring us to investigate how hearing loss might feedback onto OHCs. To test whether centrally mediated feedback regulates prestin, we developed a novel model of inner hair cell loss. Injection of diphtheria toxin (DT) into adult CBA mice produced significant loss of inner hair cells without affecting OHCs. Thus, DT-injected mice were deaf because they had no afferent auditory input despite OHCs continuing to receive normal auditory mechanical stimulation and having normal function. Patch-clamp experiments demonstrated no change in OHC prestin, indicating that loss of information transfer centrally did not alter prestin expression. To test whether local mechanical feedback regulates prestin, we used TectaC1509G mice, where the tectorial membrane is malformed and only some OHCs are stimulated. OHCs connected to the tectorial membrane had normal prestin levels, whereas OHCs not connected to the tectorial membrane had elevated prestin levels, supporting an activity-dependent model. To test whether the endocochlear potential was necessary for prestin regulation, we studied TectaC1509G mice at different developmental ages. OHCs not connected to the tectorial membrane had lower than normal prestin levels before the onset of the endocochlear potential and higher than normal prestin levels after the onset of the endocochlear potential. Taken together, these data indicate that OHC prestin levels are regulated through local feedback that requires mechanoelectrical transduction currents. This adaptation may serve to compensate for variations in the local mechanical environment. PMID:25810486

  12. Relationship between Fluorescence Intensity of GFP and the Expression Level of Prestin in a Prestin-Expressing Chinese Hamster Ovary Cell Line

    NASA Astrophysics Data System (ADS)

    Iida, Koji; Nagaoka, Tomoyuki; Tsumoto, Kouhei; Ikeda, Katsuhisa; Kumagai, Izumi; Kobayashi, Toshimitsu; Wada, Hiroshi

    Outer hair cells (OHCs) in mammals can elongate and contract at frequencies up to 100kHz in response to changes in their membrane potential. The origin of this unique motility is the motor protein prestin, which is densely packed in the lateral membrane of the OHCs. In a previous work, we constructed a prestin-expressing cell line using Chinese hamster ovary (CHO) cells to obtain a stable supply of prestin. When we research prestin using constructed cells, it is necessary to estimate the expression level of prestin in the cells easily and non-invasively. As the prestin gene and a green fluorescent protein (GFP) gene were introduced into constructed cells using the same vector, the expression level of prestin and fluorescence intensity of GFP are possibly correlated. Since this correlation is not clear, however, in this study, we therefore investigated whether the expression level of prestin evaluated by patch-clamp recording and the fluorescence intensity of GFP obtained from fluorescence images are correlated or not. As a result, it was demonstrated that they were correlated. The expression level of prestin can therefore be evaluated by measuring the fluorescence intensity of GFP.

  13. Prestin is the motor protein of cochlear outer hair cells

    NASA Astrophysics Data System (ADS)

    Zheng, Jing; Shen, Weixing; He, David Z. Z.; Long, Kevin B.; Madison, Laird D.; Dallos, Peter

    2000-05-01

    The outer and inner hair cells of the mammalian cochlea perform different functions. In response to changes in membrane potential, the cylindrical outer hair cell rapidly alters its length and stiffness. These mechanical changes, driven by putative molecular motors, are assumed to produce amplification of vibrations in the cochlea that are transduced by inner hair cells. Here we have identified an abundant complementary DNA from a gene, designated Prestin, which is specifically expressed in outer hair cells. Regions of the encoded protein show moderate sequence similarity to pendrin and related sulphate/anion transport proteins. Voltage-induced shape changes can be elicited in cultured human kidney cells that express prestin. The mechanical response of outer hair cells to voltage change is accompanied by a `gating current', which is manifested as nonlinear capacitance. We also demonstrate this nonlinear capacitance in transfected kidney cells. We conclude that prestin is the motor protein of the cochlear outer hair cell.

  14. A motif of eleven amino acids is a structural adaptation that facilitates motor capability of eutherian prestin

    PubMed Central

    Tan, Xiaodong; Pecka, Jason L.; Tang, Jie; Lovas, Sándor; Beisel, Kirk W.; He, David Z. Z.

    2012-01-01

    Cochlear outer hair cells (OHCs) alter their length in response to transmembrane voltage changes. This so-called electromotility is the result of conformational changes of membrane-bound prestin. Prestin-based OHC motility is thought to be responsible for cochlear amplification, which contributes to the exquisite frequency selectivity and sensitivity of mammalian hearing. Prestin belongs to an anion transporter family, the solute carrier protein 26A (SLC26A). Prestin is unique in this family in that it functions as a voltage-dependent motor protein manifested by two hallmarks, nonlinear capacitance and motility. Evidence suggests that prestin orthologs from zebrafish and chicken are anion exchangers or transporters with no motor function. We identified a segment of 11 amino acid residues in eutherian prestin that is extremely conserved among eutherian species but highly variable among non-mammalian orthologs and SLC26A paralogs. To determine whether this sequence represents a motif that facilitates motor function in eutherian prestin, we utilized a chimeric approach by swapping corresponding residues from the zebrafish and chicken with those of gerbil. Motility and nonlinear capacitance were measured from chimeric prestin-transfected human embryonic kidney 293 cells using a voltage-clamp technique and photodiode-based displacement measurement system. We observed a gain of motor function with both of the hallmarks in the chimeric prestin without loss of transport function. Our results show, for the first time, that the substitution of a span of 11 amino acid residues confers the electrogenic anion transporters of zebrafish and chicken prestins with motor-like function. Thus, this motif represents the structural adaptation that assists gain of motor function in eutherian prestin. PMID:22399806

  15. Functional Prestin Transduction of Immature Outer Hair Cells from Normal and Prestin-Null Mice

    PubMed Central

    Xia, Anping; Wooltorton, Julian R.A.; Palmer, Donna J.; Ng, Philip; Pereira, Fred A.; Eatock, Ruth Anne

    2008-01-01

    Prestin is a membrane protein in the outer hair cell (OHC) that has been shown to be essential for electromotility. OHCs from prestin-null mice do not express prestin, do not have a nonlinear capacitance (the electrical signature of electromotility), and are smaller in size than wild-type OHCs. We sought to determine whether prestin-null OHCs can be transduced to incorporate functional prestin protein in a normal fashion. A recombinant helper-dependent adenovirus expressing prestin and green fluorescent protein (HDAd–prestin–GFP) was created and tested in human embryonic kidney cells (HEK cells). Transduced HEK cells demonstrated membrane expression of prestin and nonlinear capacitance. HDAd–prestin–GFP was then applied to cochlear sensory epithelium explants harvested from wild-type and prestin-null mice at postnatal days 2–3, the age at which native prestin is just beginning to become functional in wild-type mice. At postnatal days 4–5, we investigated transduced OHCs for (1) their prestin expression pattern as revealed by immunofluorescence; (2) their cell surface area as measured by linear capacitance; and (3) their prestin function as indicated by nonlinear capacitance. HDAd–prestin–GFP efficiently transduced OHCs of both genotypes and prestin protein localized to the plasma membrane. Whole-cell voltage clamp studies revealed a nonlinear capacitance in transduced wild-type and prestin-null OHCs, but not in non-transduced cells of either genotype. Prestin transduction did not increase the linear capacitance (cell surface area) for either genotype. In peak nonlinear capacitance, voltage at peak nonlinear capacitance, charge density of the nonlinear capacitance, and shape of the voltage-capacitance curves, the transduced cells of the two genotypes resembled each other and previously reported data from adult wild-type mouse OHCs. Thus, prestin introduced into prestin-deficient OHCs segregates normally to the cell membrane and generates a normal

  16. Genes and Syndromic Hearing Loss.

    ERIC Educational Resources Information Center

    Keats, Bronya J. B.

    2002-01-01

    This article provides a description of the human genome and patterns of inheritance and discusses genes that are associated with some of the syndromes for which hearing loss is a common finding, including: Waardenburg, Stickler, Jervell and Lange-Neilsen, Usher, Alport, mitochondrial encephalomyopathy, and sensorineural hearing loss. (Contains…

  17. Loss of Prestin Does Not Alter the Development of Auditory Cortical Dendritic Spines

    PubMed Central

    Bogart, L. J.; Levy, A. D.; Gladstone, M.; Allen, P. D.; Zettel, M.; Ison, J. R.; Luebke, A. E.; Majewska, A. K.

    2011-01-01

    Disturbance of sensory input during development can have disastrous effects on the development of sensory cortical areas. To examine how moderate perturbations of hearing can impact the development of primary auditory cortex, we examined markers of excitatory synapses in mice who lacked prestin, a protein responsible for somatic electromotility of cochlear outer hair cells. While auditory brain stem responses of these mice show an approximately 40 dB increase in threshold, we found that loss of prestin produced no changes in spine density or morphological characteristics on apical dendrites of cortical layer 5 pyramidal neurons. PSD-95 immunostaining also showed no changes in overall excitatory synapse density. Surprisingly, behavioral assessments of auditory function using the acoustic startle response showed only modest changes in prestin KO animals. These results suggest that moderate developmental hearing deficits produce minor changes in the excitatory connectivity of layer 5 neurons of primary auditory cortex and surprisingly mild auditory behavioral deficits in the startle response. PMID:21773053

  18. Prestin at Year 14: Progress and Prospect

    PubMed Central

    He, David Z.Z.; Lovas, Sándor; Ai, Yu; Li, Yi; Beisel, Kirk W.

    2014-01-01

    Prestin, the motor protein of cochlear outer hair cells, was identified 14 years ago. Prestin-based outer hair cell motility is responsible for the exquisite sensitivity and frequency selectivity seen in the mammalian cochlea. Prestin is the 5th member of an eleven-member membrane transporter superfamily of SLC26A proteins. Unlike its paralogs, which are capable of transporting anions across the cell membrane, prestin primarily functions as a motor protein with unique capability of performing direct and reciprocal electromechanical conversion on microsecond time scale. Significant progress in the understanding of its structure and the molecular mechanism has been made in recent years using electrophysiological, biochemical, comparative genomics, structural bioinformatics, molecular dynamics simulation, site-directed mutagenesis and domain-swapping techniques. This article reviews recent advances of the structural and functional properties of prestin with focus on the areas that are critical but still controversial in understanding the molecular mechanism of how prestin works: The structural domains for voltage sensing and interaction with anions and for conformational change. Future research directions and potential application of prestin are also discussed. PMID:24361298

  19. The Evolution of Prestin: Examination with Membrane Thickness Sensitivity

    NASA Astrophysics Data System (ADS)

    Izumi, Chisako; Bird, Jonathan; Schächinger, Torsten; Oliver, Dominik; Iwasa, Kuni H.

    2011-11-01

    Prestin (SLC26A5) is a membrane protein that is essential for electromotility of outer hair cells and, in turn, for the cochlear amplifier. This function is mammalian innovation and prestin orthologs in non-mammalian hair cells function as anion exchangers rather than a motile element. Taking advantage of this evolutionary change, we found that the sensitivity of prestin orthologs to membrane thickness is inversely related to their effectiveness for the motile function. In addition, a chimera between zebrafish prestin and rat prestin, which shows motile functionality, has membrane thickness sensitivity lower than any prestin ortholog we have examined, confirming the relationship.

  20. Lizard and Frog Prestin: Evolutionary Insight into Functional Changes

    PubMed Central

    Tang, Jie; Pecka, Jason L.; Fritzsch, Bernd

    2013-01-01

    The plasma membrane of mammalian cochlear outer hair cells contains prestin, a unique motor protein. Prestin is the fifth member of the solute carrier protein 26A family. Orthologs of prestin are also found in the ear of non-mammalian vertebrates such as zebrafish and chicken. However, these orthologs are electrogenic anion exchangers/transporters with no motor function. Amphibian and reptilian lineages represent phylogenic branches in the evolution of tetrapods and subsequent amniotes. Comparison of the peptide sequences and functional properties of these prestin orthologs offer new insights into prestin evolution. With the recent availability of the lizard and frog genome sequences, we examined amino acid sequence and function of lizard and frog prestins to determine how they are functionally and structurally different from prestins of mammals and other non-mammals. Somatic motility, voltage-dependent nonlinear capacitance (NLC), the two hallmarks of prestin function, and transport capability were measured in transfected human embryonic kidney cells using voltage-clamp and radioisotope techniques. We demonstrated that while the transport capability of lizard and frog prestin was compatible to that of chicken prestin, the NLC of lizard prestin was more robust than that of chicken’s and was close to that of platypus. However, unlike platypus prestin which has acquired motor capability, lizard or frog prestin did not demonstrate motor capability. Lizard and frog prestins do not possess the same 11-amino-acid motif that is likely the structural adaptation for motor function in mammals. Thus, lizard and frog prestins appear to be functionally more advanced than that of chicken prestin, although motor capability is not yet acquired. PMID:23342145

  1. Lizard and frog prestin: evolutionary insight into functional changes.

    PubMed

    Tang, Jie; Pecka, Jason L; Fritzsch, Bernd; Beisel, Kirk W; He, David Z Z

    2013-01-01

    The plasma membrane of mammalian cochlear outer hair cells contains prestin, a unique motor protein. Prestin is the fifth member of the solute carrier protein 26A family. Orthologs of prestin are also found in the ear of non-mammalian vertebrates such as zebrafish and chicken. However, these orthologs are electrogenic anion exchangers/transporters with no motor function. Amphibian and reptilian lineages represent phylogenic branches in the evolution of tetrapods and subsequent amniotes. Comparison of the peptide sequences and functional properties of these prestin orthologs offer new insights into prestin evolution. With the recent availability of the lizard and frog genome sequences, we examined amino acid sequence and function of lizard and frog prestins to determine how they are functionally and structurally different from prestins of mammals and other non-mammals. Somatic motility, voltage-dependent nonlinear capacitance (NLC), the two hallmarks of prestin function, and transport capability were measured in transfected human embryonic kidney cells using voltage-clamp and radioisotope techniques. We demonstrated that while the transport capability of lizard and frog prestin was compatible to that of chicken prestin, the NLC of lizard prestin was more robust than that of chicken's and was close to that of platypus. However, unlike platypus prestin which has acquired motor capability, lizard or frog prestin did not demonstrate motor capability. Lizard and frog prestins do not possess the same 11-amino-acid motif that is likely the structural adaptation for motor function in mammals. Thus, lizard and frog prestins appear to be functionally more advanced than that of chicken prestin, although motor capability is not yet acquired. PMID:23342145

  2. Gene therapy for sensorineural hearing loss.

    PubMed

    Chien, Wade W; Monzack, Elyssa L; McDougald, Devin S; Cunningham, Lisa L

    2015-01-01

    Gene therapy is a promising treatment modality that is being explored for several inherited disorders. Multiple human gene therapy clinical trials are currently ongoing, but few are directed at hearing loss. Hearing loss is one of the most prevalent sensory disabilities in the world, and genetics play an important role in the pathophysiology of hearing loss. Gene therapy offers the possibility of restoring hearing by overcoming the functional deficits created by the underlying genetic mutations. In addition, gene therapy could potentially be used to induce hair cell regeneration by delivering genes that are critical to hair cell differentiation into the cochlea. In this review, we examine the promises and challenges of applying gene therapy to the cochlea. We also summarize recent studies that have applied gene therapy to animal models of hearing loss.

  3. Cochlear amplification, outer hair cells and prestin

    PubMed Central

    Dallos, Peter

    2008-01-01

    Mechanical amplification of acoustic signals is apparently a common feature of vertebrate auditory organs. In non-mammalian vertebrates amplification is produced by stereociliary processes, related to the mechanotransducer channel complex and probably to the phenomenon of fast adaptation. The extended frequency range of the mammalian cochlea has likely co-evolved with a novel hair cell type, the outer hair cell and its constituent membrane protein, prestin. Cylindrical outer hair cells are motile and their somatic length changes are voltage driven and powered by prestin. One of the central outstanding problems in mammalian cochlear neurobiology is the relation between the two amplification processes. PMID:18809494

  4. Tyrosine motifs are required for prestin basolateral membrane targeting

    PubMed Central

    Zhang, Yifan; Moeini-Naghani, Iman; Bai, JunPing; Santos-Sacchi, Joseph; Navaratnam, Dhasakumar S.

    2015-01-01

    ABSTRACT Prestin is targeted to the lateral wall of outer hair cells (OHCs) where its electromotility is critical for cochlear amplification. Using MDCK cells as a model system for polarized epithelial sorting, we demonstrate that prestin uses tyrosine residues, in a YXXΦ motif, to target the basolateral surface. Both Y520 and Y667 are important for basolateral targeting of prestin. Mutation of these residues to glutamine or alanine resulted in retention within the Golgi and delayed egress from the Golgi in Y667Q. Basolateral targeting is restored upon mutation to phenylalanine suggesting the importance of a phenol ring in the tyrosine side chain. We also demonstrate that prestin targeting to the basolateral surface is dependent on AP1B (μ1B), and that prestin uses transferrin containing early endosomes in its passage from the Golgi to the basolateral plasma membrane. The presence of AP1B (μ1B) in OHCs, and parallels between prestin targeting to the basolateral surface of OHCs and polarized epithelial cells suggest that outer hair cells resemble polarized epithelia rather than neurons in this important phenotypic measure. PMID:25596279

  5. Selective cell-surface labeling of the molecular motor protein prestin

    SciTech Connect

    McGuire, Ryan M.; Silberg, Jonathan J.; Pereira, Fred A.; Raphael, Robert M.

    2011-06-24

    Highlights: {yields} Trafficking to the plasma membrane is required for prestin function. {yields} Biotin acceptor peptide (BAP) was fused to prestin through a transmembrane domain. {yields} BAP-prestin can be metabolically labeled with biotin in HEK293 cells. {yields} Biotin-BAP-prestin allows for selective imaging of fully trafficked prestin. {yields} The biotin-BAP-prestin displays voltage-sensitive activity. -- Abstract: Prestin, a multipass transmembrane protein whose N- and C-termini are localized to the cytoplasm, must be trafficked to the plasma membrane to fulfill its cellular function as a molecular motor. One challenge in studying prestin sequence-function relationships within living cells is separating the effects of amino acid substitutions on prestin trafficking, plasma membrane localization and function. To develop an approach for directly assessing prestin levels at the plasma membrane, we have investigated whether fusion of prestin to a single pass transmembrane protein results in a functional fusion protein with a surface-exposed N-terminal tag that can be detected in living cells. We find that fusion of the biotin-acceptor peptide (BAP) and transmembrane domain of the platelet-derived growth factor receptor (PDGFR) to the N-terminus of prestin-GFP yields a membrane protein that can be metabolically-labeled with biotin, trafficked to the plasma membrane, and selectively detected at the plasma membrane using fluorescently-tagged streptavidin. Furthermore, we show that the addition of a surface detectable tag and a single-pass transmembrane domain to prestin does not disrupt its voltage-sensitive activity.

  6. Changes in gene expression and hearing thresholds after cochlear implantation

    PubMed Central

    Zhang, Hongzheng; Stark, Gemaine; Reiss, Lina

    2016-01-01

    Hypothesis Gene expression changes occur in conjunction with hearing threshold changes after cochlear implantation. Background Between 30–50% of individuals who receive electro-acoustic stimulation (EAS) cochlear implants lose residual hearing after cochlear implantation, reducing the benefits of EAS. The mechanism underlying this hearing loss is unknown; potential pathways include mechanical damage, inflammation, or tissue remodeling changes. Methods Guinea pigs were implanted in one ear with cochlear implant electrode arrays, with non-implanted ears serving as controls, and allowed to recover for 1, 3, 7, or 14 days. Hearing threshold changes were measured over time. Cochlear ribonucleic acid was analyzed using real-time quantitative reverse transcription-polymerase chain reaction from the following gene families: cytokines, tight junction claudins, ion and water (aquaporin) transport channels, gap junction connexins, and tissue remodeling genes. Results Significant increases in expression were observed for cochlear inflammatory genes (Cxcl1, IL-1b, TNFα and Tnfrsf1a/b) and ion homeostasis genes (Scnn1γ, Aqp3 and Gjb3). Upregulation of tissue remodeling genes (TGF-β, MMP2, MMP9) as well as a paracrine gene (CTGF) was also observed. Hearing loss occurred rapidly, peaking at 3 days with some recovery at 7 and 14 days after implantation. MM9 exhibited extreme upregulation of expression and was qualitatively associated with changes in hearing thresholds. Conclusion Cochlear implantation induces similar changes as middle ear inflammation for genes involved in inflammation and ion and water transport function, whereas tissue remodeling changes differ markedly. The upregulation of MMP9 with hearing loss is consistent with previous findings linking stria vascularis vessel changes with cochlear implant-induced hearing loss. PMID:25970030

  7. Treating hearing disorders with cell and gene therapy

    NASA Astrophysics Data System (ADS)

    Gillespie, Lisa N.; Richardson, Rachael T.; Nayagam, Bryony A.; Wise, Andrew K.

    2014-12-01

    Hearing loss is an increasing problem for a substantial number of people and, with an aging population, the incidence and severity of hearing loss will become more significant over time. There are very few therapies currently available to treat hearing loss, and so the development of new therapeutic strategies for hearing impaired individuals is of paramount importance to address this unmet clinical need. Most forms of hearing loss are progressive in nature and therefore an opportunity exists to develop novel therapeutic approaches to slow or halt hearing loss progression, or even repair or replace lost hearing function. Numerous emerging technologies have potential as therapeutic options. This paper details the potential of cell- and gene-based therapies to provide therapeutic agents to protect sensory and neural cells from various insults known to cause hearing loss; explores the potential of replacing lost sensory and nerve cells using gene and stem cell therapy; and describes the considerations for clinical translation and the challenges that need to be overcome.

  8. Conformational state-dependent anion binding in prestin: evidence for allosteric modulation.

    PubMed

    Song, Lei; Santos-Sacchi, Joseph

    2010-02-01

    Outer hair cells boost auditory performance in mammals. This amplification relies on an expansive array of intramembranous molecular motors, identified as prestin, that drive somatic electromotility. By measuring nonlinear capacitance, the electrical signature of electromotility, we are able to assess prestin's conformational state and interrogate the effectiveness of anions on prestin's activity. We find that the affinity of anions depends on the state of prestin that we set with a variety of perturbations (in membrane tension, temperature, and voltage), and that movement into the expanded state reduces the affinity of prestin for anions. These data signify that anions work allosterically on prestin. Consequently, anions are released from prestin's binding site during expansion, i.e., during hyperpolarization. This is at odds with the extrinsic voltage sensor model, which suggests that prestin-bound intracellular anions are propelled deep into the membrane. Furthermore, we hypothesize that prestin's susceptibility to many biophysical forces, and notably its piezoelectric nature, may reflect anion interactions with the motor. PMID:20141749

  9. From Zebrafish to Mammal: Functional Evolution of Prestin, the Motor Protein of Cochlear Outer Hair Cells

    PubMed Central

    Tan, Xiaodong; Pecka, Jason L.; Tang, Jie; Okoruwa, Oseremen E.; Zhang, Qian

    2011-01-01

    Prestin is the motor protein of cochlear outer hair cells. It belongs to a distinct anion transporter family called solute carrier protein 26A, or SLC26A. Members of this family serve two fundamentally distinct functions. Although most members transport different anion substrates across a variety of epithelia, prestin (SLC26A5) is unique, functioning as a voltage-dependent motor protein. Recent evidence suggests that prestin orthologs from zebrafish and chicken are electrogenic divalent/chloride anion exchangers/transporters with no motor function. These studies appear to suggest that prestin was evolved from an anion transporter. We examined the motor and transport functions of prestin and its orthologs from four different species in the vertebrate lineage, to gain insights of how these two physiological functions became distinct. Somatic motility, voltage-dependent nonlinear capacitance (NLC), and transporter function were measured in transfected human embryonic kidney (HEK) cells using voltage-clamp and anion uptake techniques. Zebrafish and chicken prestins both exhibited weak NLC, with peaks significantly shifted in the depolarization (right) direction. This was contrasted by robust NLC with peaks left shifted in the platypus and gerbil. The platypus and gerbil prestins retained little transporter function compared with robust anion transport capacities in the zebrafish and chicken orthologs. Somatic motility was detected only in the platypus and gerbil prestins. There appears to be an inverse relationship between NLC and anion transport functions, whereas motor function appears to have emerged only in mammalian prestin. Our results suggest that motor function is an innovation of therian prestin and is concurrent with diminished transporter capabilities. PMID:21047933

  10. Selective cell-surface labeling of the molecular motor protein prestin

    PubMed Central

    McGuire, Ryan M.; Silberg, Jonathan J.; Pereira, Fred A.; Raphael, Robert M.

    2011-01-01

    Prestin, a multipass transmembrane protein whose N- an C-termini are localized to the cytoplasm, must be trafficked to the plasma membrane to fulfill its cellular function as a molecular motor. One challenge in studying prestin sequence-function relationships within living cells is separating the effects of amino acid substitutions on prestin trafficking, plasma membrane localization and function. To develop an approach for directly assessing prestin levels at the plasma membrane, we have investigated whether fusion of prestin to a single pass transmembrane protein results in a functional fusion protein with a surface-exposed N-terminal tag that can be detected in living cells. We find that fusion of the biotin-acceptor peptide (BAP) and transmembrane domain of the platelet-derived growth factor receptor (PDGFR) to the N-terminus of prestin-GFP yields a membrane protein that can be metabolically-labeled with biotin, trafficked to the plasma membrane, and selectively detected at the plasma membrane using fluorescently-tagged streptavidin. Furthermore, we show that the addition of a surface detectable tag and a single-pass transmembrane domain to prestin does not disrupt its voltage-sensitive activity. PMID:21651892

  11. Cetaceans on a molecular fast track to ultrasonic hearing.

    PubMed

    Liu, Yang; Rossiter, Stephen J; Han, Xiuqun; Cotton, James A; Zhang, Shuyi

    2010-10-26

    The early radiation of cetaceans coincides with the origin of their defining ecological and sensory differences [1, 2]. Toothed whales (Odontoceti) evolved echolocation for hunting 36-34 million years ago, whereas baleen whales (Mysticeti) evolved filter feeding and do not echolocate [2]. Echolocation in toothed whales demands exceptional high-frequency hearing [3], and both echolocation and ultrasonic hearing have also evolved independently in bats [4, 5]. The motor protein Prestin that drives the electromotility of the outer hair cells (OHCs) is likely to be especially important in ultrasonic hearing, because it is the vibratory response of OHC to incoming sound waves that confers the enhanced sensitivity and selectivity of the mammalian auditory system [6, 7]. Prestin underwent adaptive change early in mammal evolution [8] and also shows sequence convergence between bats and dolphins [9, 10], as well as within bats [11]. Focusing on whales, we show for the first time that the extent of protein evolution in Prestin can be linked directly to the evolution of high-frequency hearing. Moreover, we find that independent cases of sequence convergence in mammals have involved numerous identical amino acid site replacements. Our findings shed new light on the importance of Prestin in the evolution of mammalian hearing.

  12. Intracellular calcium affects prestin's voltage operating point indirectly via turgor-induced membrane tension

    NASA Astrophysics Data System (ADS)

    Song, Lei; Santos-Sacchi, Joseph

    2015-12-01

    Recent identification of a calmodulin binding site within prestin's C-terminus indicates that calcium can significantly alter prestin's operating voltage range as gauged by the Boltzmann parameter Vh (Keller et al., J. Neuroscience, 2014). We reasoned that those experiments may have identified the molecular substrate for the protein's tension sensitivity. In an effort to understand how this may happen, we evaluated the effects of turgor pressure on such shifts produced by calcium. We find that the shifts are induced by calcium's ability to reduce turgor pressure during whole cell voltage clamp recording. Clamping turgor pressure to 1kPa, the cell's normal intracellular pressure, completely counters the calcium effect. Furthermore, following unrestrained shifts, collapsing the cells abolishes induced shifts. We conclude that calcium does not work by direct action on prestin's conformational state. The possibility remains that calcium interaction with prestin alters water movements within the cell, possibly via its anion transport function.

  13. Effects of Mutation in the Conserved GTSRH Sequence of the Motor Protein Prestin on Its Characteristics

    NASA Astrophysics Data System (ADS)

    Kumano, Shun; Iida, Koji; Murakoshi, Michio; Naito, Naoyuki; Tsumoto, Kouhei; Ikeda, Katsuhisa; Kumagai, Izumi; Kobayashi, Toshimitsu; Wada, Hiroshi

    Prestin is a motor protein responsible for the outer hair cell (OHC) electromotility which amplifies the vibration of the organ of Corti in the inner ear. Identification of the functional significance of particular amino acids is necessary to characterize prestin. In this study, an attempt was made to clarify the role of the GTSRH sequence at positions 127-131 in prestin conserved in six proteins of the solute carrier (SLC) 26 family of which prestin is a member. To elucidate what role that sequence plays in the characteristics of prestin, mutations were introduced into the sequence and the characteristics of the constructed point mutants were investigated by Western blotting, immunofluorescence experiments and the whole-cell patch-clamp technique. The localization of T128A was altered, the anion transport function of H131A and that of S129T were lost and such functions of G127A, T128A, S129A and R130A declined. These results suggest that the GTSRH sequence plays an important role in the localization of prestin, as well as in its anion transport function.

  14. A synthetic prestin reveals protein domains and molecular operation of outer hair cell piezoelectricity

    PubMed Central

    Schaechinger, Thorsten J; Gorbunov, Dmitry; Halaszovich, Christian R; Moser, Tobias; Kügler, Sebastian; Fakler, Bernd; Oliver, Dominik

    2011-01-01

    Prestin, a transporter-like protein of the SLC26A family, acts as a piezoelectric transducer that mediates the fast electromotility of outer hair cells required for cochlear amplification and auditory acuity in mammals. Non-mammalian prestin orthologues are anion transporters without piezoelectric activity. Here, we generated synthetic prestin (SynPres), a chimera of mammalian and non-mammalian prestin exhibiting both, piezoelectric properties and anion transport. SynPres delineates two distinct domains in the protein's transmembrane core that are necessary and sufficient for generating electromotility and associated non-linear charge movement (NLC). Functional analysis of SynPres showed that the amplitude of NLC and hence electromotility are determined by the transport of monovalent anions. Thus, prestin-mediated electromotility is a dual-step process: transport of anions by an alternate access cycle, followed by an anion-dependent transition generating electromotility. The findings define structural and functional determinants of prestin's piezoelectric activity and indicate that the electromechanical process evolved from the ancestral transport mechanism. PMID:21701557

  15. The STAS domain of mammalian SLC26A5 prestin harbours an anion-binding site.

    PubMed

    Lolli, Graziano; Pasqualetto, Elisa; Costanzi, Elisa; Bonetto, Greta; Battistutta, Roberto

    2016-02-15

    Prestin is a unique ATP- and Ca(2+)-independent molecular motor with piezoelectric characteristics responsible for the electromotile properties of mammalian cochlear outer hair cells, i.e. the capacity of these cells to modify their length in response to electric stimuli. This 'electromotility' is at the basis of the exceptional sensitivity and frequency selectivity distinctive of mammals. Prestin belongs to the SLC26 (solute carrier 26) family of anion transporters and needs anions to function properly, particularly Cl(-). In the present study, using X-ray crystallography we reveal that the STAS (sulfate transporter and anti-sigma factor antagonist) domain of mammalian prestin, considered an 'incomplete' transporter, harbours an unanticipated anion-binding site. In parallel, we present the first crystal structure of a prestin STAS domain from a non-mammalian vertebrate prestin (chicken) that behaves as a 'full' transporter. Notably, in chicken STAS, the anion-binding site is lacking because of a local structural rearrangement, indicating that the presence of the STAS anion-binding site is exclusive to mammalian prestin. PMID:26635354

  16. Mouse otocyst transuterine gene transfer restores hearing in mice with connexin 30 deletion-associated hearing loss.

    PubMed

    Miwa, Toru; Minoda, Ryosei; Ise, Momoko; Yamada, Takao; Yumoto, Eiji

    2013-06-01

    Although numerous causative genes for hereditary hearing loss have been identified, there are no fundamental treatments for this condition. Herein, we describe a novel potential treatment for genetic hearing loss. Because mutations or deletions in the connexin (Cx) genes are common causes of profound congenital hearing loss in both humans and mice, we investigated whether gene supplementation therapy using the wild-type Cx gene could cure hearing loss. We first generated inner ear-specific connexin 30 (Cx30)-deficient mice via the transuterine transfer of Cx30-targeted short hairpin RNA (shRNA-Cx30) into otocysts. The inner ear-specific Cx30-deficient mice mimicked homozygous Cx30-deficient mice both histologically and physiologically. Subsequently, we cotransfected the shRNA-Cx30 and the wild-type Cx30 gene. The cotransfected mice exhibited Cx30 expression in the cochleae and displayed normal auditory functions. Next, we performed the transuterine transfer of the wild-type Cx30 gene into the otocysts of homozygous Cx30-deficient mice, thereby rescuing the lack of Cx30 expression in the cochleae and restoring auditory functioning. These results demonstrate that supplementation therapy with wild-type genes can restore postnatal auditory functioning. Moreover, this is the first report to show that Cx-related genetic hearing loss is treatable by in vivo gene therapy.

  17. [Future cure of hearing disorders? Gene therapy and stem cell implantation are possible new therapeutic alternatives].

    PubMed

    Duan, M L; Ulfendahl, M; Ahlberg, A; Pyykkö, I; Borg, E

    2000-03-01

    Hearing loss is a very common disorder; nearly 10 per cent of the population is affected. Recently, a few findings such as the roles of neurotrophins, nitric oxide, reactive oxygen species and glutamate receptors in the peripheral hearing system have been highlighted. In this review, focus is set on possible mechanisms of peripheral hearing disorders, and on recent advances to prevent and treat hearing loss. Clinically useful treatment strategies, especially gene therapy and the use of embryonic stem cells, are particularly stressed.

  18. Mammalian prestin is a weak Cl−/HCO3− electrogenic antiporter

    PubMed Central

    Mistrík, P; Daudet, N; Morandell, K; Ashmore, J F

    2012-01-01

    The lateral membrane of mammalian cochlear outer hair cells contains prestin, a protein which can act as a fast voltage-driven actuator responsible for electromotility and enhanced sensitivity to sound. The protein belongs to the SLC26 family of transporters whose members are characterised as able to exchange halides for SO42− or HCO3− yet previous analyses of mammalian prestin have suggested that such exchange functions were minimal. Here anion transport is investigated both in guinea-pig outer hair cells (OHCs) and in an expression system where we employ a sensitive intracellular pH (pHi) probe, pHluorin, to report HCO3− transport and to monitor the small pHi changes observable in the cells. In the presence of extracellular HCO3−, pHi recovered from an acid load 4 times faster in prestin-transfected cells. The acceleration required a chloride gradient established by reducing extracellular chloride to 2 mm. Similar results were also shown using BCECF as an alternative pHi sensor, but with recovery only found in those cells expressing prestin. Simultaneous electrophysiological recording of the transfected cells during bicarbonate exposure produced a shift in the reversal potential to more negative potentials, consistent with electrogenic transport. These data therefore suggest that prestin can act as a weak Cl−/HCO3− antiporter and it is proposed that, in addition to participating in wide band cochlear sound amplification, prestin may also be involved in the slow time scale (>10 s) phenomena where changes in cell stiffness and internal pressure have been implicated. The results show the importance of considering the effects of the endogenous bicarbonate buffering system in evaluating the function of prestin in cochlear outer hair cells. PMID:22890707

  19. Mammalian prestin is a weak Cl⁻/HCO₃⁻ electrogenic antiporter.

    PubMed

    Mistrík, P; Daudet, N; Morandell, K; Ashmore, J F

    2012-11-15

    The lateral membrane of mammalian cochlear outer hair cells contains prestin, a protein which can act as a fast voltage-driven actuator responsible for electromotility and enhanced sensitivity to sound. The protein belongs to the SLC26 family of transporters whose members are characterised as able to exchange halides for SO(4)(2-) or HCO(3)(-) yet previous analyses of mammalian prestin have suggested that such exchange functions were minimal. Here anion transport is investigated both in guinea-pig outer hair cells (OHCs) and in an expression system where we employ a sensitive intracellular pH (pH(i)) probe, pHluorin, to report HCO(3)(-) transport and to monitor the small pH(i) changes observable in the cells. In the presence of extracellular HCO(3)(-), pH(i) recovered from an acid load 4 times faster in prestin-transfected cells. The acceleration required a chloride gradient established by reducing extracellular chloride to 2 mm. Similar results were also shown using BCECF as an alternative pH(i) sensor, but with recovery only found in those cells expressing prestin. Simultaneous electrophysiological recording of the transfected cells during bicarbonate exposure produced a shift in the reversal potential to more negative potentials, consistent with electrogenic transport. These data therefore suggest that prestin can act as a weak Cl(-)/HCO(3)(-) antiporter and it is proposed that, in addition to participating in wide band cochlear sound amplification, prestin may also be involved in the slow time scale (>10 s) phenomena where changes in cell stiffness and internal pressure have been implicated. The results show the importance of considering the effects of the endogenous bicarbonate buffering system in evaluating the function of prestin in cochlear outer hair cells. PMID:22890707

  20. Hearing

    ERIC Educational Resources Information Center

    Koehlinger, Keegan M.; Van Horne, Amanda J. Owen; Moeller, Mary Pat

    2013-01-01

    Purpose: Spoken language skills of 3- and 6-year-old children who are hard of hearing (HH) were compared with those of children with normal hearing (NH). Method: Language skills were measured via mean length of utterance in words (MLUw) and percent correct use of finite verb morphology in obligatory contexts based on spontaneous conversational…

  1. Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns

    PubMed Central

    YAO, GEN-DONG; LI, SHOU-XIA; CHEN, DING-LI; FENG, HAI-QIN; ZHAO, SU-BIN; LIU, YONG-JIE; GUO, LI-LI; YANG, ZHI-MING; ZHANG, XIAO-FANG; SUN, CAI-XIA; WANG, ZE-HUI; ZHANG, WEI-YONG

    2014-01-01

    The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss. PMID:24348793

  2. Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns.

    PubMed

    Yao, Gen-Dong; Li, Shou-Xia; Chen, Ding-Li; Feng, Hai-Qin; Zhao, Su-Bin; Liu, Yong-Jie; Guo, Li-Li; Yang, Zhi-Ming; Zhang, Xiao-Fang; Sun, Cai-Xia; Wang, Ze-Hui; Zhang, Wei-Yong

    2014-01-01

    The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.

  3. Phosphodiesterase 4D gene polymorphisms in sudden sensorineural hearing loss.

    PubMed

    Chien, Chen-Yu; Tai, Shu-Yu; Wang, Ling-Feng; Hsi, Edward; Chang, Ning-Chia; Wang, Hsun-Mo; Wu, Ming-Tsang; Ho, Kuen-Yao

    2016-09-01

    The phosphodiesterase 4D (PDE4D) gene has been reported as a risk gene for ischemic stroke. The vascular factors are between the hypothesized etiologies of sudden sensorineural hearing loss (SSNHL), and this genetic effect might be attributed for its role in SSNHL. We hypothesized that genetic variants of the PDE4D gene are associated with susceptibility to SSNHL. We conducted a case-control study with 362 SSNHL cases and 209 controls. Three single nucleotide polymorphisms (SNPs) were selected. The genotypes were determined using TaqMan technology. Hardy-Weinberg equilibrium (HWE) was tested for each SNP, and genetic effects were evaluated according to three inheritance modes. We carried out sex-specific analysis to analyze the overall data. All three SNPs were in HWE. When subjects were stratified by sex, the genetic effect was only evident in females but not in males. The TT genotype of rs702553 exhibited an adjusted odds ratio (OR) of 3.83 (95 % confidence interval = 1.46-11.18) (p = 0.006) in female SSNHL. The TT genotype of SNP rs702553 was associated with female SSNHL under the recessive model (p = 0.004, OR 3.70). In multivariate logistic regression analysis, TT genotype of rs702553 was significantly associated with female SSNHL (p = 0.0043, OR 3.70). These results suggest that PDE4D gene polymorphisms influence the susceptibility for the development of SSNHL in the southern Taiwanese female population.

  4. Susceptibility of outer hair cells to cholesterol chelator 2-hydroxypropyl-β-cyclodextrine is prestin-dependent

    PubMed Central

    Takahashi, Satoe; Homma, Kazuaki; Zhou, Yingjie; Nishimura, Shinichi; Duan, Chongwen; Chen, Jessie; Ahmad, Aisha; Cheatham, Mary Ann; Zheng, Jing

    2016-01-01

    Niemann-Pick type C1 disease (NPC1) is a fatal genetic disorder caused by impaired intracellular cholesterol trafficking. Recent studies reported ototoxicity of 2-hydroxypropyl- β-cyclodextrin (HPβCD), a cholesterol chelator and the only promising treatment for NPC1. Because outer hair cells (OHCs) are the only cochlear cells affected by HPβCD, we investigated whether prestin, an OHC-specific motor protein, might be involved. Single, high-dose administration of HPβCD resulted in OHC death in prestin wildtype (WT) mice whereas OHCs were largely spared in prestin knockout (KO) mice in the basal region, implicating prestin’s involvement in ototoxicity of HPβCD. We found that prestin can interact with cholesterol in vitro, suggesting that HPβCD-induced ototoxicity may involve disruption of this interaction. Time-lapse analysis revealed that OHCs isolated from WT animals rapidly deteriorated upon HPβCD treatment while those from prestin-KOs tolerated the same regimen. These results suggest that a prestin-dependent mechanism contributes to HPβCD ototoxicity. PMID:26903308

  5. Impact of Gene Patents and Licensing Practices on Access to Genetic Testing for Hearing Loss

    PubMed Central

    Chandrasekharan, Subhashini; Fiffer, Melissa

    2011-01-01

    Genetic testing for heritable hearing loss involves a mix of patented and unpatented genes, mutations and testing methods. More than half of all hearing loss is linked to inherited mutations, and five genes are most commonly tested in the United States. There are no patents on three of these genes, but Athena Diagnostics holds exclusive licenses to test for a common mutation in the GJB2 gene associated with about 50% of all cases, as well as mutations in the MTRNR1 gene. This fragmented intellectual property landscape made hearing loss a useful case study for assessing whether patent rights in genetic testing can proliferate or overlap, and whether it is possible to gather the rights necessary to perform testing. Testing for hearing loss is widely available, primarily from academic medical centers. Based on literature reviews and interviews with researchers, research on the genetics of hearing loss has generally not been impeded by patents. There is no consistent evidence of a premium in testing prices attributable to patent status. Athena Diagnostics has, however, used its intellectual property to discourage other providers from offering some tests. There is no definitive answer about the suitability of current patenting and licensing of commonly tested genes because of continuing legal uncertainty about the extent of enforcement of patent rights. Clinicians have also expressed concerns that multiplex tests will be difficult to develop because of overlapping intellectual property and conflict with Athena’s sole provider business model. PMID:20393307

  6. Impact of gene patents and licensing practices on access to genetic testing for hearing loss.

    PubMed

    Chandrasekharan, Subhashini; Fiffer, Melissa

    2010-04-01

    Genetic testing for heritable hearing loss involves a mix of patented and unpatented genes, mutations and testing methods. More than half of all hearing loss is linked to inherited mutations, and five genes are most commonly tested for in the United States. There are no patents on three of these genes, but Athena Diagnostics holds exclusive licenses to test for a common mutation in the GJB2 gene associated with about 50% of all cases as well as mutations in the MTRNR1 gene. This fragmented intellectual property landscape made hearing loss a useful case study to assess whether patent rights in genetic testing can proliferate or overlap, and whether it is possible to gather the rights necessary to perform testing. Testing for hearing loss is widely available, primarily from academic medical centers. Based on literature reviews and interviews with researchers, research on the genetics of hearing loss has generally not been impeded by patents. There is no consistent evidence of a premium in testing prices attributable to patent status. Athena Diagnostics has, however, used its intellectual property to discourage other providers from offering some tests. There is no definitive answer about the suitability of current patenting and licensing of commonly tested genes because of continuing legal uncertainty about the extent of enforcement of patent rights. Clinicians have also expressed concerns that multiplex tests will be difficult to develop because of overlapping intellectual property and conflict with Athena's sole provider business model.

  7. Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness.

    PubMed

    Iizuka, Takashi; Kamiya, Kazusaku; Gotoh, Satoru; Sugitani, Yoshinobu; Suzuki, Masaaki; Noda, Tetsuo; Minowa, Osamu; Ikeda, Katsuhisa

    2015-07-01

    Hearing loss is the most widespread sensory disorder, with an incidence of congenital genetic deafness of 1 in 1600 children. For many ethnic populations, the most prevalent form of genetic deafness is caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not completely recover speech perception. Here we used a gene delivery system to rescue hearing in a mouse model of Gjb2 deletion. Mice lacking Cx26 are characterized by profound deafness from birth and improper development of cochlear cells. Cochlear delivery of Gjb2 using an adeno-associated virus significantly improved the auditory responses and development of the cochlear structure. Using gene replacement to restore hearing in a new mouse model of Gjb2-related deafness may lead to the development of therapies for human hereditary deafness.

  8. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.

    PubMed

    Wolber, Lisa E; Girotto, Giorgia; Buniello, Annalisa; Vuckovic, Dragana; Pirastu, Nicola; Lorente-Cánovas, Beatriz; Rudan, Igor; Hayward, Caroline; Polasek, Ozren; Ciullo, Marina; Mangino, Massimo; Steves, Claire; Concas, Maria Pina; Cocca, Massilimiliano; Spector, Tim D; Gasparini, Paolo; Steel, Karen P; Williams, Frances M K

    2014-12-01

    Hearing function is known to be heritable, but few significant and reproducible associations of genetic variants have been identified to date in the adult population. In this study, genome-wide association results of hearing function from the G-EAR consortium and TwinsUK were used for meta-analysis. Hearing ability in eight population samples of Northern and Southern European ancestry (n = 4591) and the Silk Road (n = 348) was measured using pure-tone audiometry and summarized using principal component (PC) analysis. Genome-wide association analyses for PC1-3 were conducted separately in each sample assuming an additive model adjusted for age, sex and relatedness of subjects. Meta-analysis was performed using 2.3 million single-nucleotide polymorphisms (SNPs) tested against each of the three PCs of hearing ability in 4939 individuals. A single SNP lying in intron 6 of the salt-inducible kinase 3 (SIK3) gene was found to be associated with hearing PC2 (P = 3.7×10(-8)) and further supported by whole-genome sequence in a subset. To determine the relevance of this gene in the ear, expression of the Sik3 protein was studied in mouse cochlea of different ages. Sik3 was expressed in murine hair cells during early development and in cells of the spiral ganglion during early development and adulthood. Our results suggest a developmental role of Sik3 in hearing and may be required for the maintenance of adult auditory function.

  9. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

    PubMed

    Lee, Jinwook; Baek, Jeong-In; Choi, Jae Young; Kim, Un-Kyung; Lee, Sang-Heun; Lee, Kyu-Yup

    2013-12-15

    The TMPRSS3 gene (DFNB8/10), which encodes a transmembrane serine protease, is a common hearing loss gene in several populations. Accurate functions of TMPRSS3 in the hearing pathway are still unknown, but TMPRSS3 has been reported to play a crucial role in inner ear development or maintenance. To date, 16 pathogenic mutations have been identified in many countries, but no mutational studies of the TMPRSS3 gene have been conducted in the Korean hearing loss population. In this study, we performed genetic analysis of TMPRSS3 in 40 unrelated Korean patients with autosomal recessive hearing loss to identify the aspect and frequency of TMPRSS3 gene mutations in the Korean population. A total of 22 variations were detected, including a novel variant (p.V291L) and a previously reported pathogenic mutation (p.A306T). The p.A306T mutation which has been detected in only compound heterozygous state in previous studies was identified in homozygous state for the first time in this study. Moreover, the clinical evaluation identified bilateral dilated vestibules in the patient with p.A306T mutation, and it suggested that p.A306T mutation of the TMPRSS3 gene might be associated with vestibular anomalies. In conclusion, this study investigated that only 2.5% of patients with autosomal recessive hearing loss were related to TMPRSS3 mutations suggesting low prevalence of TMPRSS3 gene in Korean hearing loss population. Also, it will provide the information of genotype-phenotype correlation to understand definite role of TMPRSS3 in the auditory system.

  10. A gene for autosomal dominant hearing loss on the short arm of chromosome 1

    SciTech Connect

    Van Camp, G.; Coucke, P.; Willems, P.J.

    1994-09-01

    Hearing loss is the most common form of sensory impairment and many cases are attributable to genetic causes. The genetic defects underlying several syndromic forms of deafness have been identified, but little is known about the causes of non-syndromic hereditary deafness which accounts for the majority of inherited hearing loss. We report here a large Indonesian family with non-syndromal postlingual hearing loss starting in the high frequencies and showing autosomal dominant inheritance. To locate the gene responsible for the hearing loss in this family, we performed a genome search by genetic linkage analysis with microsatellite markers distributed over the whole genome. We have mapped the gene causing deafness in an extended Indonesian family to chromosome 1p with a multipoint lod score higher than 7. Two other smaller families, showing a similar hereditary hearing loss, were also tested for linkage with chromosome 1p. One family originating from the U.S. was linked to this new locus with a multipoint lod score exceeding 5. In another family from the Netherlands this locus was excluded. The flanking markers D1S255 and D1S211 define a region of 6 cM on chromosome 1p which is likely to contain the deafness gene present in the Indonesian and American family.

  11. Apoptosis-related genes change their expression with age and hearing loss in the mouse cochlea.

    PubMed

    Tadros, Sherif F; D'Souza, Mary; Zhu, Xiaoxia; Frisina, Robert D

    2008-11-01

    To understand possible causative roles of apoptosis gene regulation in age-related hearing loss (presbycusis), apoptotic gene expression patterns in the CBA mouse cochlea of four different age and hearing loss groups were compared, using GeneChip and real-time (qPCR) microarrays. GeneChip transcriptional expression patterns of 318 apoptosis-related genes were analyzed. Thirty eight probes (35 genes) showed significant differences in expression. The significant gene families include Caspases, B-cell leukemia/lymphoma2 family, P53, Calpains, Mitogen activated protein kinase family, Jun oncogene, Nuclear factor of kappa light chain gene enhancer in B-cells inhibitor-related and tumor necrosis factor-related genes. The GeneChip results of 31 genes were validated using the new TaqMan Low Density Array (TLDA). Eight genes showed highly correlated results with the GeneChip data. These genes are: activating transcription factor3, B-cell leukemia/lymphoma2, Bcl2-like1, caspase4 apoptosis-related cysteine protease 4, Calpain2, dual specificity phosphatase9, tumor necrosis factor receptor superfamily member12a, and Tumor necrosis factor superfamily member13b, suggesting they may play critical roles in inner ear aging.

  12. Expression and replication studies to identify new candidate genes involved in normal hearing function.

    PubMed

    Girotto, Giorgia; Vuckovic, Dragana; Buniello, Annalisa; Lorente-Cánovas, Beatriz; Lewis, Morag; Gasparini, Paolo; Steel, Karen P

    2014-01-01

    Considerable progress has been made in identifying deafness genes, but still little is known about the genetic basis of normal variation in hearing function. We recently carried out a Genome Wide Association Study (GWAS) of quantitative hearing traits in southern European populations and found several SNPs with suggestive but none with significant association. In the current study, we followed up these SNPs to investigate which of them might show a genuine association with auditory function using alternative approaches. Firstly, we generated a shortlist of 19 genes from the published GWAS results. Secondly, we carried out immunocytochemistry to examine expression of these 19 genes in the mouse inner ear. Twelve of them showed distinctive cochlear expression patterns. Four showed expression restricted to sensory hair cells (Csmd1, Arsg, Slc16a6 and Gabrg3), one only in marginal cells of the stria vascularis (Dclk1) while the others (Ptprd, Grm8, GlyBP, Evi5, Rimbp2, Ank2, Cdh13) in multiple cochlear cell types. In the third step, we tested these 12 genes for replication of association in an independent set of samples from the Caucasus and Central Asia. Nine out of them showed nominally significant association (p<0.05). In particular, 4 were replicated at the same SNP and with the same effect direction while the remaining 5 showed a significant association in a gene-based test. Finally, to look for genotype-phenotype relationship, the audiometric profiles of the three genotypes of the most strongly associated gene variants were analyzed. Seven out of the 9 replicated genes (CDH13, GRM8, ANK2, SLC16A6, ARSG, RIMBP2 and DCLK1) showed an audiometric pattern with differences between different genotypes further supporting their role in hearing function. These data demonstrate the usefulness of this multistep approach in providing new insights into the molecular basis of hearing and may suggest new targets for treatment and prevention of hearing impairment.

  13. A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.

    PubMed

    Sagong, Borum; Baek, Jeong-In; Oh, Se-Kyung; Na, Kyung Jin; Bae, Jae Woong; Choi, Soo Young; Jeong, Ji Yun; Choi, Jae Young; Lee, Sang-Heun; Lee, Kyu-Yup; Kim, Un-Kyung

    2013-01-01

    Hearing loss (HL) is a congenital disease with a high prevalence, and patients with hearing loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 genes have been reported as common causative genes of hearing loss in the Korean population and some mutations of these genes are the most common mutations associated with hearing loss. Accordingly, we developed a method for the simultaneous detection of seven mutations (c.235delC of GJB2, c.439A>G, c.919-2A>G, c.1149+3A>G, c.1229C>T, c.2168A>G of SLC26A4, and m.1555A>G of the MT-RNR1 gene) using multiplex SNaPshot minisequencing to enable rapid diagnosis of hereditary hearing loss. This method was confirmed in patients with hearing loss and used for genetic diagnosis of controls with normal hearing and neonates. We found that 4.06% of individuals with normal hearing and 4.32% of neonates were heterozygous carriers. In addition, we detected that an individual is heterozygous for two different mutations of GJB2 and SLC26A4 gene, respectively and one normal hearing showing the heteroplasmy of m.1555A>G. These genotypes corresponded to those determined by direct sequencing. Overall, we successfully developed a robust and cost-effective diagnosis method that detects common causative mutations of hearing loss in the Korean population. This method will be possible to detect up to 40% causative mutations associated with prelingual HL in the Korean population and serve as a useful genetic technique for diagnosis of hearing loss for patients, carriers, neonates, and fetuses.

  14. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

    PubMed Central

    Wolber, Lisa E.; Girotto, Giorgia; Buniello, Annalisa; Vuckovic, Dragana; Pirastu, Nicola; Lorente-Cánovas, Beatriz; Rudan, Igor; Hayward, Caroline; Polasek, Ozren; Ciullo, Marina; Mangino, Massimo; Steves, Claire; Concas, Maria Pina; Cocca, Massilimiliano; Spector, Tim D.; Gasparini, Paolo; Steel, Karen P.; Williams, Frances M.K.

    2014-01-01

    Hearing function is known to be heritable, but few significant and reproducible associations of genetic variants have been identified to date in the adult population. In this study, genome-wide association results of hearing function from the G-EAR consortium and TwinsUK were used for meta-analysis. Hearing ability in eight population samples of Northern and Southern European ancestry (n = 4591) and the Silk Road (n = 348) was measured using pure-tone audiometry and summarized using principal component (PC) analysis. Genome-wide association analyses for PC1–3 were conducted separately in each sample assuming an additive model adjusted for age, sex and relatedness of subjects. Meta-analysis was performed using 2.3 million single-nucleotide polymorphisms (SNPs) tested against each of the three PCs of hearing ability in 4939 individuals. A single SNP lying in intron 6 of the salt-inducible kinase 3 (SIK3) gene was found to be associated with hearing PC2 (P = 3.7×10−8) and further supported by whole-genome sequence in a subset. To determine the relevance of this gene in the ear, expression of the Sik3 protein was studied in mouse cochlea of different ages. Sik3 was expressed in murine hair cells during early development and in cells of the spiral ganglion during early development and adulthood. Our results suggest a developmental role of Sik3 in hearing and may be required for the maintenance of adult auditory function. PMID:25060954

  15. [The mutation spectrum of the GJB2 gene in Belarussian patients with hearing loss. Results of pilot genetic screening of hearing impairment in newborns].

    PubMed

    Bliznets, E A; Marcul', D N; Khorov, O G; Markova, T G; Poliakov, A V

    2014-02-01

    A total of 111 unrelated probands and their 8 sibs from Grodno oblast (Belarus) with bilateral isolated sensorineural hearing impairment were studied for the presence of mutations in the connexin 26--GJB2gene. Mutations were detected in 51 probands (46% of the sample). A significantly higher frequency of the GJB2gene mutations was observed in familial cases of the disease with the autosomal recessive type of inheritance (in 78% of families). Detected peculiarities of the GJB2 gene mutation spectrum demonstrated that use of the algorithm, which was developed for Russian patients, is optimal for the molecular study of patients from Be- larus. In the sample of patients with hearing loss, the highest (among other similar samples studied in the world) allele frequency of c.313_326de114 mutation (7% out of all pathological GJB2 alleles) was registered; Polish origin of this deletion was suggested. It was demonstrated that detection of the GJB2 gene mutation on only one patient's chromosome is insufficient to confirm a molecular genetic diagnosis of hearing loss of the DFNB1 genetic type (autosomal recessive hearing loss caused by the GJB2 gene mutations). Pilot screening in the presence of GJB2 gene mutations in newborns from Grodno oblast was conducted. The material from 235 children was studied during the screening; nine heterozygous carriers of the mutation were found. The c.35delG mutation was detected in a homozygous state in a single newborn (hearing loss of moderate severity was subsequently audiologically confirmed in this child). PMID:25711030

  16. A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

    PubMed Central

    Gandía, Marta; del Castillo, Francisco J.; Rodríguez-Álvarez, Francisco J.; Garrido, Gema; Villamar, Manuela; Calderón, Manuela; Moreno-Pelayo, Miguel A.; Moreno, Felipe; del Castillo, Ignacio

    2013-01-01

    The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connection-26) gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound and usually appears before the acquisition of speech (prelingual onset), though a small number of hypomorphic missense mutations result in mild or moderate deafness of postlingual onset. We identified a novel GJB2 splice-site mutation, c. -22-2A>C, in three siblings with mild postlingual hearing impairment that were compound heterozygous for c. -22-2A>C and c.35delG. Reverse transcriptase-PCR experiments performed on total RNA extracted from saliva samples from one of these siblings confirmed that c. -22-2A>C abolished the acceptor splice site of the single GJB2 intron, resulting in the absence of normally processed transcripts from this allele. However, we did isolate transcripts from the c. -22-2A>C allele that keep an intact GJB2 coding region and that were generated by use of an alternative acceptor splice site previously unknown. The residual expression of wild-type connection-26 encoded by these transcripts probably underlies the mild severity and late onset of the hearing impairment of these subjects. PMID:24039984

  17. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

    PubMed

    Taylor, Kyle R; Deluca, Adam P; Shearer, A Eliot; Hildebrand, Michael S; Black-Ziegelbein, E Ann; Anand, V Nikhil; Sloan, Christina M; Eppsteiner, Robert W; Scheetz, Todd E; Huygen, Patrick L M; Smith, Richard J H; Braun, Terry A; Casavant, Thomas L

    2013-04-01

    Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a common and often progressive sensory deficit. ADNSHL displays a high degree of genetic heterogeneity and varying rates of progression. Accurate, comprehensive, and cost-effective genetic testing facilitates genetic counseling and provides valuable prognostic information to affected individuals. In this article, we describe the algorithm underlying AudioGene, a software system employing machine-learning techniques that utilizes phenotypic information derived from audiograms to predict the genetic cause of hearing loss in persons segregating ADNSHL. Our data show that AudioGene has an accuracy of 68% in predicting the causative gene within its top three predictions, as compared with 44% for a majority classifier. We also show that AudioGene remains effective for audiograms with high levels of clinical measurement noise. We identify audiometric outliers for each genetic locus and hypothesize that outliers may reflect modifying genetic effects. As personalized genomic medicine becomes more common, AudioGene will be increasingly useful as a phenotypic filter to assess pathogenicity of variants identified by massively parallel sequencing. PMID:23280582

  18. Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea

    PubMed Central

    Hosoya, Makoto; Fujioka, Masato; Ogawa, Kaoru; Okano, Hideyuki

    2016-01-01

    Hearing impairment is the most frequent sensory deficit in humans. Deafness genes, which harbor pathogenic mutations that have been identified in families with hereditary hearing loss, are commonly expressed in the auditory end organ or the cochlea and may contribute to normal hearing function, yet some of the mouse models carrying these mutations fail to recapitulate the hearing loss phenotype. In this study, we find that distinct expression patterns of those deafness genes in the cochlea of a non-human primate, the common marmoset (Callithrix jacchus). We examined 20 genes whose expression in the cochlea has already been reported. The deafness genes GJB3, CRYM, GRHL2, DFNA5, and ATP6B1 were expressed in marmoset cochleae in patterns different from those in mouse cochleae. Of note, all those genes are causative for progressive hearing loss in humans, but not in mice. The other tested genes, including the deafness gene COCH, in which mutation recapitulates deafness in mice, were expressed in a similar manner in both species. The result suggests that the discrepancy in the expression between rodents and primates may account for the phenotypic difference. This limitation of the rodent models can be bypassed by using non-human primate models such as the marmoset. PMID:26915689

  19. Hear, Hear!

    ERIC Educational Resources Information Center

    Rittner-Heir, Robbin

    2000-01-01

    Examines the problem of acoustics in school classrooms; the problems it creates for student learning, particularly for students with hearing problems; and the impediments to achieving acceptable acoustical levels for school classrooms. Acoustic guidelines are explored and some remedies for fixing sound problems are highlighted. (GR)

  20. Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.

    PubMed

    Kim, Min-A; Kim, Ye-Ri; Sagong, Borum; Cho, Hyun-Ju; Bae, Jae Woong; Kim, Jeongho; Lee, Jinwook; Park, Hong-Joon; Choi, Jae Young; Lee, Kyu-Yup; Kim, Un-Kyung

    2014-01-01

    Tight junctions (TJs) are essential components of eukaryotic cells, and serve as paracellular barriers and zippers between adjacent tissues. TJs are critical for normal functioning of the organ of Corti, a part of the inner ear that causes loss of sensorineural hearing when damaged. To investigate the relation between genes involved in TJ function and hereditary loss of sensorineural hearing in the Korean population, we selected the TJP2 and CLDN14 genes as candidates for gene screening of 135 Korean individuals. The TJP2 gene, mutation of which causes autosomal dominant non-syndromic hearing loss (ADNSHL), lies at the DFNA51 locus on chromosome 9. The CLDN14 gene, mutation of which causes autosomal recessive non-syndromic hearing loss (ARNSHL), lies at the DFNB29 locus on chromosome 21. In the present study, we conducted genetic analyses of the TJP2 and CLDN14 genes in 87 unrelated patients with ADNSHL and 48 unrelated patients with either ARNSHL or potentially sporadic hearing loss. We identified two pathogenic variations, c.334G>A (p.A112T) and c.3562A>G (p.T1188A), and ten single nucleotide polymorphisms (SNPs) in the TJP2 gene. We found eight non-pathogenic variations in the CLDN14 gene. These findings indicate that, whereas mutation of the TJP2 gene might cause ADNSHL, CLDN14 is not a major causative gene for ARNSHL in the Korean population studied. Our findings may improve the understanding of the genetic cause of non-syndromic hearing loss in the Korean population.

  1. No association between apolipoprotein E or N‐Acetyltransferase 2 gene polymorphisms and age‐related hearing loss

    PubMed Central

    Dawes, Piers; Platt, Hazel; Horan, Michael; Ollier, William; Munro, Kevin; Pendleton, Neil

    2014-01-01

    Objectives/Hypothesis Age‐related hearing loss has a genetic component, but there have been limited genetic studies in this field. Both N‐acetyltransferase 2 and apolipoprotein E genes have previously been associated. However, these studies have either used small sample sizes, examined a limited number of polymorphisms, or have produced conflicting results. Here we use a haplotype tagging approach to determine association with age‐related hearing loss and investigate epistasis between these two genes. Study Design Candidate gene association study of a continuous phenotype. Methods We investigated haplotype tagging single nucleotide polymorphisms in the N‐acetyltransferase 2 gene and the presence/absence of the apolipoprotein E ε4 allele for association with age‐related hearing loss in a cohort of 265 Caucasian elderly volunteers from Greater Manchester, United Kingdom. Hearing phenotypes were generated using principal component analysis of the hearing threshold levels for the better ear (severity, slope, and concavity). Genotype data for the N‐acetyltransferase 2 gene was obtained from existing genome‐wide association study data from the Illumina 610‐Quadv1 chip. Apolipoprotein E genotyping was performed using Sequenom technology. Linear regression analysis was performed using Plink and Stata software. Results No significant associations (P value, > 0.05) were observed between the N‐acetyltransferase 2 or apolipoprotein E gene polymorphisms and any hearing factor. No significant association was observed for epistasis analysis of apolipoprotein E ε4 and the N‐acetyltransferase 2 single nucleotide polymorphism rs1799930 (NAT2*6A). Conclusion We found no evidence to support that either N‐acetyltransferase 2 or apolipoprotein E gene polymorphisms are associated with age‐related hearing loss in a cohort of 265 elderly volunteers. Level of Evidence N/A. Laryngoscope, 125:E33–E38, 2015 PMID:25155015

  2. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

    PubMed Central

    Atik, Tahir; Onay, Huseyin; Aykut, Ayca; Bademci, Guney; Kirazli, Tayfun; Tekin, Mustafa; Ozkinay, Ferda

    2015-01-01

    Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJB2 and a targeted next generation sequencing panel (Illumına TruSightTM Exome) covering 2761 genes that we briefly called as mendelian exome sequencing was used. This panel includes 102 deafness genes and a number of genes causing Mendelian disorders. Using this approach, we identified causative variants in 21 of 29 families. Three different GJB2 variants were present in seven families. Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel. Mutation detection rate of our workflow is 72.4%, confirming the usefulness of targeted sequencing approach in NSHL. PMID:26561413

  3. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

    PubMed

    Atik, Tahir; Onay, Huseyin; Aykut, Ayca; Bademci, Guney; Kirazli, Tayfun; Tekin, Mustafa; Ozkinay, Ferda

    2015-01-01

    Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance. A workflow including prescreening of GJB2 and a targeted next generation sequencing panel (Illumına TruSightTM Exome) covering 2761 genes that we briefly called as mendelian exome sequencing was used. This panel includes 102 deafness genes and a number of genes causing Mendelian disorders. Using this approach, we identified causative variants in 21 of 29 families. Three different GJB2 variants were present in seven families. Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel. Mutation detection rate of our workflow is 72.4%, confirming the usefulness of targeted sequencing approach in NSHL.

  4. Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.

    PubMed

    Sagong, Borum; Baek, Jeong-In; Bok, Jinwoong; Lee, Kyu-Yup; Kim, Un-Kyung

    2016-01-01

    Hereditary hearing loss is a heterogeneous disorder that results in a common sensorineural disorder. To date, more than 150 loci and 89 genes have been reported for non-syndromic hearing loss. Next generation sequencing has recently been developed as a powerful genetic strategy for identifying pathogenic mutations in heterogeneous disorders with various causative genes. In this study, we performed targeted sequencing to identify the causative mutation in a Korean family that had moderate hearing loss. We targeted 64 genes associated with non-syndromic hearing loss and sorted the homozygous variations according to the autosomal recessive inheritance pattern of the family. Implementing a bioinformatic platform for filtering and detecting variations allowed for the identification of two variations within different genes (c.650G>A in TRIOBP and c.4057C>T in STRC). These variants were selected for further analysis. Among these, c.4057C>T (p.Q1353X) was a divergent sequence variation between the STRC gene and the STRC pseudogene. This was the critical difference that resulted in loss of the protein-coding ability of the pseudogene. Therefore, we hypothesized that the p.Q1353X variation in the STRC gene is the causative mutation for hearing loss. This result suggests that application of targeted sequencing will be valuable for the diagnosis of heterogeneous disorders.

  5. Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease.

    PubMed

    Cabrera, Sonia; Sanchez, Elena; Requena, Teresa; Martinez-Bueno, Manuel; Benitez, Jesus; Perez, Nicolas; Trinidad, Gabriel; Soto-Varela, Andrés; Santos-Perez, Sofía; Martin-Sanz, Eduardo; Fraile, Jesus; Perez, Paz; Alarcon-Riquelme, Marta E; Batuecas, Angel; Espinosa-Sanchez, Juan M; Aran, Ismael; Lopez-Escamez, Jose A

    2014-01-01

    Meniere's disease is an episodic vestibular syndrome associated with sensorineural hearing loss (SNHL) and tinnitus. Patients with MD have an elevated prevalence of several autoimmune diseases (rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and psoriasis), which suggests a shared autoimmune background. Functional variants of several genes involved in the NF-κB pathway, such as REL, TNFAIP3, NFKB1 and TNIP1, have been associated with two or more immune-mediated diseases and allelic variations in the TLR10 gene may influence bilateral affectation and clinical course in MD. We have genotyped 716 cases of MD and 1628 controls by using the ImmunoChip, a high-density genotyping array containing 186 autoimmune loci, to explore the association of immune system related-loci with sporadic MD. Although no single nucleotide polymorphism (SNP) reached a genome-wide significant association (p<10(-8)), we selected allelic variants in the NF-kB pathway for further analyses to evaluate the impact of these SNPs in the clinical outcome of MD in our cohort. None of the selected SNPs increased susceptibility for MD in patients with uni or bilateral SNHL. However, two potential regulatory variants in the NFKB1 gene (rs3774937 and rs4648011) were associated with a faster hearing loss progression in patients with unilateral SNHL. So, individuals with unilateral MD carrying the C allele in rs3774937 or G allele in rs4648011 had a shorter mean time to reach hearing stage 3 (>40 dB HL) (log-rank test, corrected p values were p = 0.009 for rs3774937 and p = 0.003 for rs4648011, respectively). No variants influenced hearing in bilateral MD. Our data support that the allelic variants rs3774937 and rs4648011 can modify hearing outcome in patients with MD and unilateral SNHL.

  6. Interleukin-1β gene polymorphism and hearing loss related to the history of occupational noise exposure in Brazilian elderly.

    PubMed

    Carvalho, Luiz C L; Marchiori, Luciana L M; Melo, Juliana J; Maciel, Sandra M; Poli-Frederico, Regina C

    2013-01-01

    Hearing loss is the most common sensory impairment in older people, and may have social and psychological consequences, such as social isolation, frustration and depression. Noise-induced hearing loss (NIHL) is an interaction of both genetic and environmental factors. Some studies have led to the identification of possible NIHL susceptibility genes. The aim of the present study was to investigate whether the polymorphism of the interleukin (IL)-1β gene at position + 3954 was associated with complaints of hearing loss due to occupational exposure. The sample was composed of elderly people with hearing loss (age ≥ 60 years) divided into two groups: 99 with occupational exposure to noise and 193 without exposure. Information on occupational exposure to noise was obtained through interviews using a semi-structured questionnaire. Hearing acuity was measured from 500 to 6000 Hz and the IL-1β genotype was obtained by the polymerase chain reaction- restriction fragment length polymorphism technique. Differences in allelic and genotypic frequencies, and the association between genotypic frequencies and complaints of hearing loss due to occupational exposure, were analyzed by the Chi-square test at the 5% significance level. Fifty-one percent of the elderly were homozygous for the ancestral allele (C), 17.2% were homozygous for the polymorphic allele (T) and 31.8% were heterozygous. The frequency was found to be 67-33% C to allele T. There was no significant association between polymorphism in gene IL-1β and hearing loss associated with occupational exposure (χ2 = 0.538; P = 0.676). No association was found with the polymorphism of the IL-1β +3954 C/T gene and hearing loss associated with the occupational noise exposure history.

  7. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

    PubMed Central

    Bademci, G.; Cengiz, F. B.; Foster II, J.; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.; Kirazli, T.; Olgun, L.; Alper, H.; Menendez, I.; Loclar, I.; Sennaroglu, G.; Tokgoz-Yilmaz, S.; Guo, S.; Olgun, Y.; Mahdieh, N.; Bonyadi, M.; Bozan, N.; Ayral, A.; Ozkinay, F.; Yildirim-Baylan, M.; Blanton, S. H.; Tekin, M.

    2016-01-01

    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies. PMID:27562378

  8. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.

    PubMed

    Bademci, G; Cengiz, F B; Foster Ii, J; Duman, D; Sennaroglu, L; Diaz-Horta, O; Atik, T; Kirazli, T; Olgun, L; Alper, H; Menendez, I; Loclar, I; Sennaroglu, G; Tokgoz-Yilmaz, S; Guo, S; Olgun, Y; Mahdieh, N; Bonyadi, M; Bozan, N; Ayral, A; Ozkinay, F; Yildirim-Baylan, M; Blanton, S H; Tekin, M

    2016-01-01

    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies. PMID:27562378

  9. Age-related hearing loss: aquaporin 4 gene expression changes in the mouse cochlea and auditory midbrain.

    PubMed

    Christensen, Nathan; D'Souza, Mary; Zhu, Xiaoxia; Frisina, Robert D

    2009-02-01

    Presbycusis -- age-related hearing loss, is the number one communication disorder, and one of the top three chronic medical conditions of our aged population. Aquaporins, particularly aquaporin 4 (Aqp4), are membrane proteins with important roles in water and ion flux across cell membranes, including cells of the inner ear and pathways of the brain used for hearing. To more fully understand the biological bases of presbycusis, 39 CBA mice, a well-studied animal model of presbycusis, underwent non-invasive hearing testing as a function of sound frequency (auditory brainstem response -- ABR thresholds, and distortion-product otoacoustic emission -- DPOAE magnitudes), and were clustered into four groups based on age and hearing ability. Aqp4 gene expression, as determined by genechip microarray analysis and quantitative real-time PCR, was compared to the young adult control group in the three older groups: middle aged with good hearing, old age with mild presbycusis, and old age with severe presbycusis. Linear regression and ANOVA showed statistically significant changes in Aqp4 gene expression and ABR and DPOAE hearing status in the cochlea and auditory midbrain -- inferior colliculus. Down-regulation in the cochlea was seen, and an initial down-, then up-regulation was discovered for the inferior colliculus Aqp4 expression. It is theorized that these changes in Aqp4 gene expression represent an age-related disruption of ion flux in the fluids of the cochlea that are responsible for ionic gradients underlying sound transduction in cochlear hair cells necessary for hearing. In regard to central auditory processing at the level of the auditory midbrain, aquaporin gene expression changes may affect neurotransmitter cycling involving supporting cells, thus impairing complex sound neural processing with age.

  10. Application of SNPscan in Genetic Screening for Common Hearing Loss Genes

    PubMed Central

    Ke, Jia; Li, Tao; Hu, Ping; Song, Yu; Xu, Chiyu; Wang, Jie; Cheng, Jing; Zhang, Lei; Duan, Hong; Yuan, Huijun; Ma, Furong

    2016-01-01

    The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain ~40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics. PMID:27792752

  11. A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family.

    PubMed

    Wei, Qinjun; Liu, Youguo; Wang, Shuai; Liu, Tingting; Lu, Yajie; Xing, Guangqian; Cao, Xin

    2014-02-01

    Mutations in the GJB2 gene are responsible for up to 50% of cases of non-syndromic recessive hearing loss, with c.35delG, c.167delT and c.235delC being the predominant mutations in many world populations. However, a large number of rare mutations in this gene may also contribute to hearing loss. The aim of the present study was to conduct a clinical and molecular characterization of a Chinese family with non-syndromic hearing loss. Sequence analysis of the GJB2 gene led to the identification of a novel compound heterozygous mutation c.257C>G (p.T86R)/c.605ins46 in two profoundly deaf siblings whose hearing parents were each heterozygous, either for the c.257C>G (paternal) or for the c.605ins46 (maternal) mutations. Both c.257C>G and c.605ins46 are rare GJB2 mutations that have previously been reported to segregate with autosomal recessive hearing loss exclusively in East Asian populations. To study the pathogenic effect of the compound heterozygous mutation, a three-dimensional model was constructed and Anolea mean force potential energy was predicted for a bioinformatic structural analysis. HEK293 cells were used to study the pathogenic effect of mutant connexin 26 proteins. The results suggested that the c.257C>G (p.T86R)/c.605ins46 mutations in the GJB2 gene provides a novel molecular explanation for the role of the GJB2 gene in hearing loss.

  12. Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay

    PubMed Central

    Zhang, Fengguo; Xu, Lei; Zhang, Xue; Zhang, Guodong; Li, Jianfeng; Lv, Huaiqing; Bai, Xiaohui; Wang, Haibo

    2016-01-01

    Hearing loss is a common sensory disorder, and at least 50% of cases are due to a genetic etiology. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss, GJB2, SLC26A4, and mtDNA12SrRNA are the major contributors. However, the mutation spectrum of these common deafness genes varies among different ethnic groups. The present work summarized mutations in these three genes and their prevalence in 339 patients with nonsyndromic hearing loss at three different special education schools and one children's hospital in Linyi, China. A new multiplex genetic screening system “SNPscan assay” was employed to detect a total of 115 mutations of the above three genes. Finally, 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. The carrying rate of mutations in the three genes was 37.76%, 19.75%, and 4.72%, respectively. This mutation profile in our study is distinct from other parts of China, with high mutation rate of GJB2 suggesting a unique mutation spectrum in this area. PMID:27247933

  13. PON2 and ATP2B2 gene polymorphisms with noise-induced hearing loss

    PubMed Central

    Li, Xiuting; Cao, Jinglian; Wang, Jun; Song, Haiyan; Ji, Guixiang; Dong, Qiu; Wei, Chunlong; Cao, Ying; Wang, Boshen

    2016-01-01

    Background Noise-induced hearing loss (NIHL) is a complex disease induced by a combination of genetic and environmental factors. Paraoxonase2 (PON2) gene involved in the regulation of reactive oxygen species, and affecting the vulnerability of cochlea to NIHL, and ATPase, calcium-transporting, plasma membrane 2 (ATP2B2) gene which encodes plasma membrane calcium-transporting ATPase isoform 2 (PMCA2) are the candidate genes relating to the attack of NIHL. In this study, we investigated whether ATP2B2 and PON2 polymorphisms were associated with NIHL in Chinese of Han nationality population. Methods We performed a case-control study between six single nucleotide polymorphisms (SNPs) (rs1719571, rs3209637 and rs4327369 within ATP2B2, rs12026, rs7785846 and rs12704796 within PON2) and NIHL in 454 subjects. All the SNPs were genotypes, using the TaqMan MGB probe assay. Odds ratios (ORs) were calculated with 95% confidence intervals (95% CIs) with logistic regression analysis to test the level of association for SNPs. Results In our study, 221 subjects with hearing loss and 233 subjects without hearing loss were recruited. The frequencies of the CG and CG + GG genotype of rs12026 (PON2) conferred risk factors for NIHL with adjusted OR values of 2.62 (95% CI, 1.69–4.06) and 2.48 (95% CI, 1.63–3.78), respectively. This kind of significance was also found at locus rs7785846, where genotypes CT and CT + TT were the risk types, with adjusted ORs of 2.52 (95% CI, 1.62–3.93) and 2.35 (95% CI, 1.54–3.58), respectively. We performed stratified analysis per noise exposure level, when it came to rs7785846 and rs12026 in the >92 dB(A) noise exposure group, the subjects who carried heterozygote were of significantly (P<0.01) higher susceptibility to NIHL than homozygote carriers. By contrast, no significantly higher risk was found for any rs12704796 genotypes or any genotypes in ATP2B2 (P>0.05), which may suggest that these SNPs did not have significant effects on noise

  14. Sleep Disturbance and Altered Expression of Circadian Clock Genes in Patients With Sudden Sensorineural Hearing Loss.

    PubMed

    Yang, Chao-Hui; Hwang, Chung-Feng; Lin, Pai-Mei; Chuang, Jiin-Haur; Hsu, Cheng-Ming; Lin, Sheng-Fung; Yang, Ming-Yu

    2015-07-01

    The cause of sudden sensorineural hearing loss (SSNHL) remains unclear and therefore it is often considered as idiopathic. Sleep disturbance has been linked to SSNHL and circadian rhythm disruption, but the link between circadian rhythm disruption and SSNHL has never been investigated.In this study, we surveyed the sleep quality of 38 patients with SSNHL using a simple insomnia sleep questionnaire. The expression of circadian clock genes in peripheral blood (PB) leukocytes from 38 patients with SSNHL and 71 healthy subjects was accessed using real-time quantitative reverse transcriptase-polymerase chain reaction and validated using immunocytochemical staining.We found that 61.8% of patients with SSNHL suffered from insomnia before the insult of hearing loss. Besides, significantly decreased expression of PER1, CRY1, CRY2, CLOCK, BMAL1, and CKlε was found in PB leukocytes of patients with SSNHL when compared with healthy subjects. SSNHL patients with vertigo had significantly lower expression of CRY1 and CKlε than patients without vertigo symptoms. Our results imply the association of sleep disturbance and disrupted circadian rhythm in SSNHL.

  15. A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss

    SciTech Connect

    Lee, Hee Keun; Park, Hong-Joon; Lee, Kyu-Yup; Park, Rekil; Kim, Un-Kyung

    2010-06-04

    Autosomal dominant mutations in the transcription factor POU4F3 gene are associated with non-syndromic hearing loss in humans; however, there have been few reports of mutations in this gene worldwide. We performed a mutation analysis of the POU4F3 gene in 42 unrelated Koreans with autosomal dominant non-syndromic hearing loss, identifying a novel 14-bp deletion mutation in exon 2 (c.662del14) in one patient. Audiometric examination revealed severe bilateral sensorineural hearing loss in this patient. The novel mutation led to a truncated protein that lacked both functional POU domains. We further investigated the functional distinction between wild-type and mutant POU4F3 proteins using in vitro assays. The wild-type protein was completely localized in the nucleus, while the truncation of protein seriously affected its nuclear localization. In addition, the mutant failed to activate reporter gene expression. This is the first report of a POU4F3 mutation in Asia, and moreover our data suggest that further investigation will need to delineate ethnicity-specific genetic background for autosomal dominant non-syndromic hearing loss within Asian populations.

  16. Sudden sensorineural hearing loss and polymorphisms in iron homeostasis genes: new insights from a case-control study.

    PubMed

    Castiglione, Alessandro; Ciorba, Andrea; Aimoni, Claudia; Orioli, Elisa; Zeri, Giulia; Vigliano, Marco; Gemmati, Donato

    2015-01-01

    Background. Even if various pathophysiological events have been proposed as explanations, the putative cause of sudden hearing loss remains unclear. Objectives. To investigate and to reveal associations (if any) between the main iron-related gene variants and idiopathic sudden sensorineural hearing loss. Study Design. Case-control study. Materials and Methods. A total of 200 sudden sensorineural hearing loss patients (median age 63.65 years; range 10-92) were compared with 400 healthy control subjects. The following genetic variants were investigated: the polymorphism c.-8CG in the promoter of the ferroportin gene (FPN1; SLC40A1), the two isoforms C1 and C2 (p.P570S) of the transferrin protein (TF), the amino acidic substitutions p.H63D and p.C282Y in the hereditary hemochromatosis protein (HFE), and the polymorphism c.-582AG in the promoter of the HEPC gene, which encodes the protein hepcidin (HAMP). Results. The homozygous genotype c.-8GG of the SLC40A1 gene revealed an OR for ISSNHL risk of 4.27 (CI 95%, 2.65-6.89; P = 0.001), being overrepresented among cases. Conclusions. Our study indicates that the homozygous genotype FPN1 -8GG was significantly associated with increased risk of developing sudden hearing loss. These findings suggest new research should be conducted in the field of iron homeostasis in the inner ear.

  17. Gene Expression Changes for Antioxidants Pathways in the Mouse Cochlea: Relations to Age-related Hearing Deficits

    PubMed Central

    Tadros, Sherif F.; D'Souza, Mary; Zhu, Xiaoxia; Frisina, Robert D.

    2014-01-01

    Age-related hearing loss – presbycusis – is the number one neurodegenerative disorder and top communication deficit of our aged population. Like many aging disorders of the nervous system, damage from free radicals linked to production of reactive oxygen and/or nitrogen species (ROS and RNS, respectively) may play key roles in disease progression. The efficacy of the antioxidant systems, e.g., glutathione and thioredoxin, is an important factor in pathophysiology of the aging nervous system. In this investigation, relations between the expression of antioxidant-related genes in the auditory portion of the inner ear – cochlea, and age-related hearing loss was explored for CBA/CaJ mice. Forty mice were classified into four groups according to age and degree of hearing loss. Cochlear mRNA samples were collected and cDNA generated. Using Affymetrix® GeneChip, the expressions of 56 antioxidant-related gene probes were analyzed to estimate the differences in gene expression between the four subject groups. The expression of Glutathione peroxidase 6, Gpx6; Thioredoxin reductase 1, Txnrd1; Isocitrate dehydrogenase 1, Idh1; and Heat shock protein 1, Hspb1; were significantly different, or showed large fold-change differences between subject groups. The Gpx6, Txnrd1 and Hspb1 gene expression changes were validated using qPCR. The Gpx6 gene was upregulated while the Txnrd1 gene was downregulated with age/hearing loss. The Hspb1 gene was found to be downregulated in middle-aged animals as well as those with mild presbycusis, whereas it was upregulated in those with severe presbycusis. These results facilitate development of future interventions to predict, prevent or slow down the progression of presbycusis. PMID:24587312

  18. Gene expression changes for antioxidants pathways in the mouse cochlea: relations to age-related hearing deficits.

    PubMed

    Tadros, Sherif F; D'Souza, Mary; Zhu, Xiaoxia; Frisina, Robert D

    2014-01-01

    Age-related hearing loss - presbycusis - is the number one neurodegenerative disorder and top communication deficit of our aged population. Like many aging disorders of the nervous system, damage from free radicals linked to production of reactive oxygen and/or nitrogen species (ROS and RNS, respectively) may play key roles in disease progression. The efficacy of the antioxidant systems, e.g., glutathione and thioredoxin, is an important factor in pathophysiology of the aging nervous system. In this investigation, relations between the expression of antioxidant-related genes in the auditory portion of the inner ear - cochlea, and age-related hearing loss was explored for CBA/CaJ mice. Forty mice were classified into four groups according to age and degree of hearing loss. Cochlear mRNA samples were collected and cDNA generated. Using Affymetrix® GeneChip, the expressions of 56 antioxidant-related gene probes were analyzed to estimate the differences in gene expression between the four subject groups. The expression of Glutathione peroxidase 6, Gpx6; Thioredoxin reductase 1, Txnrd1; Isocitrate dehydrogenase 1, Idh1; and Heat shock protein 1, Hspb1; were significantly different, or showed large fold-change differences between subject groups. The Gpx6, Txnrd1 and Hspb1 gene expression changes were validated using qPCR. The Gpx6 gene was upregulated while the Txnrd1 gene was downregulated with age/hearing loss. The Hspb1 gene was found to be downregulated in middle-aged animals as well as those with mild presbycusis, whereas it was upregulated in those with severe presbycusis. These results facilitate development of future interventions to predict, prevent or slow down the progression of presbycusis.

  19. A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

    PubMed

    Oh, Se-Kyung; Baek, Jeong-In; Weigand, Karl M; Venselaar, Hanka; Swarts, Herman G P; Park, Seong-Hyun; Hashim Raza, Muhammad; Jung, Da Jung; Choi, Soo-Young; Lee, Sang-Heun; Friedrich, Thomas; Vriend, Gert; Koenderink, Jan B; Kim, Un-Kyung; Lee, Kyu-Yup

    2015-05-01

    Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss with migraine found to be associated with a variant in the ATP1A2 gene. The ATP1A2 gene has been reported as the major genetic cause of familial migraine by several previous studies. A Korean family presenting progressive hearing loss with migraine was ascertained. The affected members did not show any aura or other neurologic symptoms during migraine attacks, indicating on a novel phenotype of syndromic hearing loss. To identify the causative gene, linkage analysis and whole-exome sequencing were performed. A novel missense variant, c.571G>A (p.(Val191Met)), was identified in the ATP1A2 gene that showed co-segregation with the phenotype in the family. In silico studies suggest that this variant causes a change in hydrophobic interactions and thereby slightly destabilize the A-domain of Na(+)/K(+)-ATPase. However, functional studies failed to show any effect of the p.(Val191Met) substitution on the catalytic rate of this enzyme. We describe a new phenotype of progressive hearing loss with migraine associated with a variant in the ATP1A2 gene. This study suggests that a variant in Na(+)/K(+)-ATPase can be involved in both migraine and hearing loss.

  20. Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

    PubMed Central

    Ammar-Khodja, Fatima; Bonnet, Crystel; Dahmani, Malika; Ouhab, Sofiane; Lefèvre, Gaelle M; Ibrahim, Hassina; Hardelin, Jean-Pierre; Weil, Dominique; Louha, Malek; Petit, Christine

    2015-01-01

    The genetic heterogeneity of congenital hearing disorders makes molecular diagnosis expensive and time-consuming using conventional techniques such as Sanger sequencing of DNA. In order to design an appropriate strategy of molecular diagnosis in the Algerian population, we explored the diversity of the involved mutations by studying 65 families affected by autosomal recessive forms of nonsyndromic hearing impairment (DFNB forms), which are the most prevalent early onset forms. We first carried out a systematic screening for mutations in GJB2 and the recurrent p.(Arg34*) mutation in TMC1, which were found in 31 (47.7%) families and 1 (1.5%) family, respectively. We then performed whole exome sequencing in nine of the remaining families, and identified the causative mutations in all the patients analyzed, either in the homozygous state (eight families) or in the compound heterozygous state (one family): (c.709C>T: p.(Arg237*)) and (c.2122C>T: p.(Arg708*)) in OTOF, (c.1334T>G: p.(Leu445Trp)) in SLC26A4, (c.764T>A: p.(Met255Lys)) in GIPC3, (c.518T>A: p.(Cys173Ser)) in LHFPL5, (c.5336T>C: p.(Leu1779Pro)) in MYO15A, (c.1807G>T: p.(Val603Phe)) in OTOA, (c.6080dup: p.(Asn2027Lys*9)) in PTPRQ, and (c.6017del: p.(Gly2006Alafs*13); c.7188_7189ins14: p.(Val2397Leufs*2)) in GPR98. Notably, 7 of these 10 mutations affecting 8 different genes had not been reported previously. These results highlight for the first time the genetic heterogeneity of the early onset forms of nonsyndromic deafness in Algerian families. PMID:26029705

  1. PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

    PubMed Central

    Girotto, Giorgia; Scheffer, Déborah I.; Morgan, Anna; Vozzi, Diego; Rubinato, Elisa; Di Stazio, Mariateresa; Muzzi, Enrico; Pensiero, Stefano; Giersch, Anne B.; Corey, David P.; Gasparini, Paolo

    2015-01-01

    Hereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms. Here, we identified PSIP1/LEDGF (isoform p75) as a novel strong candidate gene involved in dominant HHL. Using exome sequencing we found a frameshift deletion (c.1554_1555del leading to p.E518Dfs*2) in an Italian pedigree affected by sensorineural mild-to-moderate HHL but also showing a variable eye phenotype (i.e. uveitis, optic neuropathy). This deletion led to a premature stop codon (p.T519X) with truncation of the last 12 amino acids. PSIP1 was recently described as a transcriptional co-activator regulated by miR-135b in vestibular hair cells of the mouse inner ear as well as a possible protector against photoreceptor degeneration. Here, we demonstrate that it is ubiquitously expressed in the mouse inner ear. The PSIP1 mutation is associated with a peculiar audiometric slope toward the high frequencies. These findings indicate that PSIP1 likely plays an important role in HHL. PMID:26689366

  2. Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

    PubMed

    Freitas, Érika L; Oiticica, Jeanne; Silva, Amanda G; Bittar, Roseli S M; Rosenberg, Carla; Mingroni-Netto, Regina C

    2014-03-01

    In 20% of cases, hereditary non-syndromic hearing loss has an autosomal dominant inheritance (ADNSHL). To date, more than 50 loci for ADNSHL have been mapped to different chromosomal regions. In order to verify whether genomic alterations contribute to the hearing loss etiology and to search for novel deafness candidate loci, we investigated probands from families with ADNSHL by oligonucleotide array-CGH. A deletion in the 5q32 region encompassing only one gene, POU4F3, which corresponds to DFNA15, was detected in one family. POU4F3 protein has an important role in the maturation, differentiation and survival of cochlear hair cells. Defects in these cells may therefore explain sensorineural hearing loss. Mutations in this gene have already been associated with autosomal dominant hearing loss but this is the first description of a germline POUF4F3 deletion associated with hearing impairment.

  3. Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

    PubMed

    Bakhchane, Amina; Bousfiha, Amale; Charoute, Hicham; Salime, Sara; Detsouli, Mustapha; Snoussi, Khalid; Nadifi, Sellama; Kabine, Mostafa; Rouba, Hassan; Dehbi, Hind; Roky, Rachida; Charif, Majida; Barakat, Abdelhamid

    2016-06-01

    Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis. PMID:27169813

  4. Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

    PubMed

    Gao, Xue; Huang, Sha-Sha; Yuan, Yong-Yi; Wang, Guo-Jian; Xu, Jin-Cao; Ji, Yu-Bin; Han, Ming-Yu; Yu, Fei; Kang, Dong-Yang; Lin, Xi; Dai, Pu

    2015-10-01

    Hereditary nonsyndromic hearing loss is extremely heterogeneous. Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss linked to the loci of DFNA36 and DFNB7/11, respectively. We characterized a six-generation Chinese family (5315) with progressive, postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL). By combining targeted capture of 82 known deafness genes, next-generation sequencing and bioinformatic analysis, we identified TMC1 c.1714G>A (p. D572N) as the disease-causing mutation. This mutation co-segregated with hearing loss in other family members and was not detected in 308 normal controls. In order to determine the prevalence of TMC1 c.1714G>A in Chinese ADNSHL families, we used DNA samples from 67 ADNSHL families with sloping audiogram and identified two families carry this mutation. To determine whether it arose from a common ancestor, we analyzed nine STR markers. Our results indicated that TMC1 c.1714G>A (p.D572N) account for about 4.4% (3/68) of ADNSHL in the Chinese population.

  5. Pan-Canadian REspiratory STandards INitiative for Electronic Health Records (PRESTINE): 2011 National Forum Proceedings

    PubMed Central

    Lougheed, M Diane; Minard, Janice; Dworkin, Shari; Juurlink, Mary-Ann; Temple, Walley J; To, Teresa; Koehn, Marc; Van Dam, Anne; Boulet, Louis-Philippe

    2012-01-01

    stakeholders across the spectrum of respiratory care, including clinicians, researchers, health informaticists and administrators to explore and recommend a potential scope, approach and governance structure for this important project. The Pan-Canadian REspiratory STandards INitiative for Electronic Health Records (PRESTINE) goal is to recommend respiratory data elements and standards for use in electronic medical records across Canada that meet the needs of providers, administrators, researchers and policy makers to facilitate evidence-based clinical care, monitoring, surveillance, benchmarking and policy development. The focus initially is expected to include asthma, chronic obstructive pulmonary disease and pulmonary function standards elements that are applicable to many respiratory conditions. The present article summarizes the process and findings of the forum deliberations. PMID:22536581

  6. Pan-Canadian REspiratory STandards INitiative for Electronic Health Records (PRESTINE): 2011 national forum proceedings.

    PubMed

    Lougheed, M Diane; Minard, Janice; Dworkin, Shari; Juurlink, Mary-Ann; Temple, Walley J; To, Teresa; Koehn, Marc; Van Dam, Anne; Boulet, Louis-Philippe

    2012-01-01

    stakeholders across the spectrum of respiratory care, including clinicians, researchers, health informaticists and administrators to explore and recommend a potential scope, approach and governance structure for this important project. The Pan-Canadian REspiratory STandards INitiative for Electronic Health Records (PRESTINE) goal is to recommend respiratory data elements and standards for use in electronic medical records across Canada that meet the needs of providers, administrators, researchers and policy makers to facilitate evidence-based clinical care, monitoring, surveillance, benchmarking and policy development. The focus initially is expected to include asthma, chronic obstructive pulmonary disease and pulmonary function standards elements that are applicable to many respiratory conditions. The present article summarizes the process and findings of the forum deliberations.

  7. Slowly Progressive Encephalopathy with Hearing Loss Due to a Mutation in the mtDNA tRNALeu(CUN) Gene

    PubMed Central

    Çoku, Jorida; Shanske, Sara; Mehrazin, Mahsa; Tanji, Kurenai; Naini, Ali; Emmanuele, Valentina; Patterson, Marc; Hirano, Michio; DiMauro, Salvatore

    2014-01-01

    Pathogenic mutations in the tRNALeu(UCN) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNALeu(UCN), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance. PMID:20022607

  8. Hearing Loss

    MedlinePlus

    ... version of this page please turn Javascript on. Hearing Loss What is Hearing Loss? Hearing loss is a common problem caused by ... sec Click to watch this video Types of Hearing Loss Hearing loss comes in many forms. It can ...

  9. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

    PubMed Central

    2013-01-01

    Background Genetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However, comprehensive genetic tests for deafness genes by Sanger sequencing is extremely expensive and time-consuming. Next-generation sequencing (NGS) technology is advantageous for genetic diagnosis of heterogeneous diseases that involve numerous causative genes. Methods Genomic DNA samples from 58 subjects with hearing loss from 15 unrelated Japanese families were subjected to NGS to identify the genetic causes of hearing loss. Subjects did not have pathogenic GJB2 mutations (the gene most often associated with inherited hearing loss), mitochondrial m.1555A>G or 3243A>G mutations, enlarged vestibular aqueduct, or auditory neuropathy. Clinical features of subjects were obtained from medical records. Genomic DNA was subjected to a custom-designed SureSelect Target Enrichment System to capture coding exons and proximal flanking intronic sequences of 84 genes responsible for nonsyndromic or syndromic hearing loss, and DNA was sequenced by Illumina GAIIx (paired-end read). The sequences were mapped and quality-checked using the programs BWA, Novoalign, Picard, and GATK, and analyzed by Avadis NGS. Results Candidate genes were identified in 7 of the 15 families. These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients. Mutations in Usher syndrome-related genes were detected in three families, including one double heterozygous mutation of CDH23 and PCDH15. Conclusion Targeted NGS analysis revealed a diverse spectrum of rare deafness genes in Japanese subjects and underscores implications for efficient genetic testing. PMID:24164807

  10. Hereditary Hearing Loss.

    ERIC Educational Resources Information Center

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  11. Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

    PubMed Central

    Jeon, Ju Hyun; Baek, Jeong-In; Lee, Won-Sang; Kim, Un-Kyung; Choi, Jae Young

    2013-01-01

    Background Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation. Methods The audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes. Results All patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene. Conclusions Auditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population. PMID:23840632

  12. [Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)].

    PubMed

    Sun, Han-Jun; Tao, Ran; Cheng, Jing; Yang, Shu-Zhi; Cao, Ju-Yang; Yu, Li-Ming; Hong, Meng-Di; Feng, Guo-Yin; Dai, Pu; Yuan, Hui-Jun; Han, Dong-Yi; He, Lin

    2006-12-01

    Hereditary non-syndromic sensorineural hearing loss is a genetically highly heterogeneous group of disorders. To date, at least 50 loci for autosomal dominant non-syndromic sensorineural hearing loss (DFNA) have been identified by linkage analysis. Here we report a huge family with late onset autosomal dominant hereditary non-syndromic hearing loss. In this family, 73 of 170 family members have been conducted physical examination, pure-tone audiometry, immittance testing and auditory brainstem response testing (ABR). The results indicated that 39 of 73 tested family members have sensorineural hearing loss in various degrees. No associated visible abnormalities in other systems were found in this family. After exclusion of the 14 known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh), a genome wide scan was carried out using 382 highly informative microsatellite markers at approximately 9.2 cM intervals throughout the genome. Linkage analysis was carried out under a fully penetrant autosomal dominant mode of inheritance with no phenocopies. A maximum two-point LOD score of 6.69 at theta=0 was obtained for marker D14S1040. Haplotype analysis placed the locus within a 7.6 cM genetic interval defined by marker D14S1021 and D14S70, overlapping with the DFNA9 locus. PMID:17138532

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

    PubMed Central

    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.

    2016-01-01

    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. PMID:27520957

  14. New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss

    SciTech Connect

    Mkaouar-Rebai, Emna Tlili, Abdelaziz; Masmoudi, Saber; Charfeddine, Ilhem; Fakhfakh, Faiza

    2008-05-09

    The 12S rRNA gene was shown to be a hot spot for aminoglycoside-induced and non-syndromic hearing loss since several deafness-associated mtDNA mutations were identified in this gene. Among them, we distinguished the A1555G, the C1494T and the T1095C mutations and C-insertion or deletion at position 961. One hundred Tunisian patients with non-syndromic hearing loss and 100 hearing individuals were analysed in this study. A PCR-RFLP analysis with HaeIII restriction enzyme showed the presence of the A1555G mutation in the 12S rRNA gene in only one out of the 100 patients. In addition, PCR-RFLP and radioactive PCR revealed the presence of a new HaeIII polymorphic restriction site in the same gene of 12S rRNA site in 4 patients with non-syndromic hearing loss. UVIDOC-008-XD analyses showed the presence of this new polymorphic restriction site with a variable heteroplasmic rates at position +1517 of the human mitochondrial genome. On the other hand, direct sequencing of the entire mitochondrial 12S rRNA gene in the 100 patients and in 100 hearing individuals revealed the presence of the A750G and A1438G polymorphisms and the absence of the C1494T, T1095C and 961insC mutations in all the tested individuals. Sequencing of the whole mitochondrial genome in the 4 patients showing the new HaeIII polymorphic restriction site revealed only the presence of the A8860G transition in the MT-ATP6 gene and the A4769G polymorphism in the ND2 gene.

  15. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

    PubMed

    Mori, Kentaro; Moteki, Hideaki; Miyagawa, Maiko; Nishio, Shin-Ya; Usami, Shin-Ichi

    2016-01-01

    Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434) and the total numbers of cases associated with at least one mutation was 44.07% (316/717). Among these, we were able to diagnose 212 (30%) patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8%) had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall) were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes. PMID:27627659

  16. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients

    PubMed Central

    Mori, Kentaro; Moteki, Hideaki; Miyagawa, Maiko; Nishio, Shin-ya; Usami, Shin-ichi

    2016-01-01

    Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500–1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434) and the total numbers of cases associated with at least one mutation was 44.07% (316/717). Among these, we were able to diagnose 212 (30%) patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8%) had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall) were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes. PMID:27627659

  17. Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

    PubMed

    Mori, Kentaro; Moteki, Hideaki; Miyagawa, Maiko; Nishio, Shin-Ya; Usami, Shin-Ichi

    2016-01-01

    Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434) and the total numbers of cases associated with at least one mutation was 44.07% (316/717). Among these, we were able to diagnose 212 (30%) patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8%) had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall) were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes.

  18. Nonsyndromic hereditary hearing loss.

    PubMed

    Alford, Raye L

    2011-01-01

    The etiology of hereditary hearing loss is extraordinarily complex. More than 400 genetic syndromes are associated with hearing loss and more than 140 genetic loci associated with nonsyndromic hearing loss have been mapped, with more than 60 genes identified to date. Hereditary hearing loss can be inherited as an autosomal dominant, autosomal recessive, X-linked or mitochondrial (maternally inherited) condition. The overlapping audiologic phenotypes associated with many genes and the variability and/or reduced, sometimes age-related, penetrance of some phenotypic features of syndromic hearing loss can complicate the distinction between various genetic causes of nonsyndromic hearing loss and between nonsyndromic and syndromic hearing loss, especially in childhood. Testing for individual genes associated with nonsyndromic hearing loss, beyond GJB2 which encodes Connexin 26, can become expensive and, without specific phenotypic features to guide selection of genes for testing (such as enlarged vestibular aqueducts, low frequency hearing loss or auditory neuropathy), it is not likely to yield an etiology. Advances in DNA sequencing and the rapid decline in the cost of sequencing presage the availability of testing that can identify the etiology in the majority of cases of genetic hearing loss. However, until comprehensive genetic testing of hearing loss is clinically available and cost-effective, thorough phenotypic and audiologic evaluation and careful documentation of risk factors, infectious exposures and patient and family medical history will continue to be important to efforts directed toward etiologic diagnosis. The complexities associated with interpretation of genetic test results, genetic counseling and genetic risk assessment make consultation with medical geneticists important for many patients.

  19. Hearing loss caused by progressive degeneration of cochlear hair cells in mice deficient for the Barhl1 homeobox gene.

    PubMed

    Li, Shengguo; Price, Sandy M; Cahill, Hugh; Ryugo, David K; Shen, Michael M; Xiang, Mengqing

    2002-07-01

    The cochlea of the mammalian inner ear contains three rows of outer hair cells and a single row of inner hair cells. These hair cell receptors reside in the organ of Corti and function to transduce mechanical stimuli into electrical signals that mediate hearing. To date, the molecular mechanisms underlying the maintenance of these delicate sensory hair cells are unknown. We report that targeted disruption of Barhl1, a mouse homolog of the Drosophila BarH homeobox genes, results in severe to profound hearing loss, providing a unique model for the study of age-related human deafness disorders. Barhl1 is expressed in all sensory hair cells during inner ear development, 2 days after the onset of hair cell generation. Loss of Barhl1 function in mice results in age-related progressive degeneration of both outer and inner hair cells in the organ of Corti, following two reciprocal longitudinal gradients. Our data together indicate an essential role for Barhl1 in the long-term maintenance of cochlear hair cells, but not in the determination or differentiation of these cells. PMID:12091321

  20. Immediate early gene response to hearing song correlates with receptive behavior and depends on dialect in a female songbird.

    PubMed

    Maney, D L; MacDougall-Shackleton, E A; MacDougall-Shackleton, S A; Ball, G F; Hahn, T P

    2003-09-01

    Stimulus-induced expression of the immediate early gene ZENK (egr-1) in the songbird's auditory forebrain presumably depends on the behavioral significance of the stimulus. Few studies, however, have quantified both the ZENK and behavioral responses to a stimulus in the same individuals. We played conspecific male song of either hatch (local) or foreign dialect to female white-crowned sparrows (Zonotrichia leucophrys oriantha) and quantified both the auditory ZENK response and their behavioral response, which is known to depend on dialect. Birds hearing hatch dialect showed greater ZENK induction in the caudomedial hyperstriatum ventrale and the dorsal portion of the caudomedial neostriatum than birds hearing foreign dialect, supporting previous work showing a relationship between ZENK and salience of the stimulus. In the dorsal portion of the caudomedial neostriatum, ZENK induction was correlated with the amount of non-vocal courtship behavior; however, in the caudomedial hyperstriatum ventrale, ZENK induction was more highly correlated with the females' own vocal behavior and thus may have been partly self-induced. Some females sang and showed a male-like pattern of ZENK induction in their song systems. This study provides the first evidence that the ZENK response in a sensory area to a social stimulus is proportional to the animal's preference for the stimulus.

  1. MMP-9 gene ablation mitigates hyperhomocystenemia-induced cognition and hearing dysfunction.

    PubMed

    Bhargava, Seema; Pushpakumar, Sathnur; Metreveli, Naira; Givvimani, Srikanth; Tyagi, Suresh C

    2014-08-01

    Hyperhomocysteinemia (HHcy) is associated with cognitive decline and hearing loss due to vascular dysfunction. Although we have shown that HHcy-induced increased expression of matrix metalloproteinase-9 (MMP-9) is associated with cochlear pathology in cystathionine-β-synthase heterozygous (CBS(+/-)) mice, it is still unclear whether MMP-9 contributes to functional deficit in cognition and hearing. Therefore, we hypothesize that HHcy-induced MMP-9 activation causes vascular, cerebral and cochlear remodeling resulting in diminished cognition and hearing. Wildtype (WT), CBS(+/-), MMP-9(-/-) and CBS(+/-)/MMP-9(-/-) double knock-out (DKO) mice were genotyped and used. Doppler flowmetry of internal carotid artery (ICA) was performed for peak systolic velocity [PSV], pulsatility index [PI] and resistive index [RI]. Cognitive functions were assessed by Novel Object Recognition Test (NORT) and for cochlear function Auditory brainstem response (ABR) was elicited. Peak systolic velocity, pulsatility and resistive indices of ICA were decreased in CBS(+/-) mice, indicating reduced perfusion. ABR threshold was increased and maximum ABR amplitude and NORT indices (recognition, discrimination) were decreased in CBS(+/-) mice compared to WT and MMP-9(-/-). All these parameters were attenuated in DKO mice suggesting a significant role of MMP-9 in HHcy-induced vascular, neural and cochlear pathophysiology. Regression analysis of PSV with ABR and cognitive parameters revealed significant correlation (0.44-0.58). For the first time, MMP-9 has been correlated directly to functional deficits of brain and cochlea, and found to have a significant role. Our data suggests a dual pathology of HHcy occurring due to a decrease in blood supply (vasculo-neural and vasculo-cochlear) and direct tissue remodeling.

  2. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

    PubMed

    Rost, Simone; Bach, Elisa; Neuner, Cordula; Nanda, Indrajit; Dysek, Sandra; Bittner, Reginald E; Keller, Alexander; Bartsch, Oliver; Mlynski, Robert; Haaf, Thomas; Müller, Clemens R; Kunstmann, Erdmute

    2014-02-01

    Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis and expression studies support this substitution as being causative. COL4A6 encodes the alpha-6 chain of type IV collagen of basal membranes, which forms a heterotrimer with two alpha-5 chains encoded by COL4A5. Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far. Moreover, our index patient and other affected family members show normal renal and ocular function, which is not consistent with Alport syndrome, but with a nonsyndromic type of hearing loss. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. In conclusion, our results suggest COL4A6 as being the fourth gene associated with X-linked nonsyndromic hearing loss. PMID:23714752

  3. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

    PubMed

    Rost, Simone; Bach, Elisa; Neuner, Cordula; Nanda, Indrajit; Dysek, Sandra; Bittner, Reginald E; Keller, Alexander; Bartsch, Oliver; Mlynski, Robert; Haaf, Thomas; Müller, Clemens R; Kunstmann, Erdmute

    2014-02-01

    Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis and expression studies support this substitution as being causative. COL4A6 encodes the alpha-6 chain of type IV collagen of basal membranes, which forms a heterotrimer with two alpha-5 chains encoded by COL4A5. Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far. Moreover, our index patient and other affected family members show normal renal and ocular function, which is not consistent with Alport syndrome, but with a nonsyndromic type of hearing loss. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. In conclusion, our results suggest COL4A6 as being the fourth gene associated with X-linked nonsyndromic hearing loss.

  4. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

    PubMed Central

    Rost, Simone; Bach, Elisa; Neuner, Cordula; Nanda, Indrajit; Dysek, Sandra; Bittner, Reginald E; Keller, Alexander; Bartsch, Oliver; Mlynski, Robert; Haaf, Thomas; Müller, Clemens R; Kunstmann, Erdmute

    2014-01-01

    Hereditary hearing loss is the most common human sensorineural disorder. Genetic causes are highly heterogeneous, with mutations detected in >40 genes associated with nonsyndromic hearing loss, to date. Whereas autosomal recessive and autosomal dominant inheritance is prevalent, X-linked forms of nonsyndromic hearing impairment are extremely rare. Here, we present a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss and the underlying genetic defect. Next-generation sequencing and subsequent segregation analysis detected a missense mutation (c.1771G>A, p.Gly591Ser) in the type IV collagen gene COL4A6 in all affected family members. Bioinformatic analysis and expression studies support this substitution as being causative. COL4A6 encodes the alpha-6 chain of type IV collagen of basal membranes, which forms a heterotrimer with two alpha-5 chains encoded by COL4A5. Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with X-linked Alport syndrome, a nephropathy associated with deafness and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far. Moreover, our index patient and other affected family members show normal renal and ocular function, which is not consistent with Alport syndrome, but with a nonsyndromic type of hearing loss. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. In conclusion, our results suggest COL4A6 as being the fourth gene associated with X-linked nonsyndromic hearing loss. PMID:23714752

  5. Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss.

    PubMed

    Balali, Maryam; Kamalidehghan, Behnam; Farhadi, Mohammad; Ahmadipour, Fatemeh; Ashkezari, Mahmoud Dehghani; Hemami, Mohsen Rezaei; Arabzadeh, Hossein; Falah, Masoumeh; Meng, Goh Yong; Houshmand, Massoud

    2016-01-01

    Mitochondrial DNA mutations play an important role in causing sensorineural hearing loss. The purpose of this study was to determine the association of the mitochondrial genes RNR1, MT-TL1, and ND1 as well as the nuclear genes GJB2 and GJB6 with audiological examinations in nonfamilial Iranians with cochlear implants, using polymerase chain reaction, DNA sequencing, and RNA secondary structure analysis. We found that there were no novel mutations in the mitochondrial gene 12S rRNA (MT-RNR1) in patients with and without GJB2 mutation (GJB2(+) and GJB2(-), respectively), but a total of six polymorphisms were found. No mutations were observed in tRNA(Leu) (() (UUR) ()) (MT-TL1). Furthermore, eight polymorphisms were found in the mitochondrial ND1 gene. Additionally, no mutations were observed in the nuclear GJB6 gene in patients in the GJB2(-) and GJB2(+) groups. The speech intelligibility rating and category of auditory perception tests were statistically assessed in patients in the GJB2(-) and GJB2(+) groups. The results indicated that there was a significant difference (P<0.05) between the categories of auditory perception score in the GJB2(-) group compared to that in the GJB2(+) group. Successful cochlear implantation was observed among individuals with GJB2 mutations (GJB2(+)) and mitochondrial polymorphisms compared to those without GJB2 mutations (GJB2(-)). In conclusion, the outcome of this study suggests that variation in the mitochondrial and nuclear genes may influence the penetrance of deafness. Therefore, further genetic and functional studies are required to help patients in making the best choice for cochlear implants. PMID:26889084

  6. Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss

    PubMed Central

    Balali, Maryam; Kamalidehghan, Behnam; Farhadi, Mohammad; Ahmadipour, Fatemeh; Ashkezari, Mahmoud Dehghani; Hemami, Mohsen Rezaei; Arabzadeh, Hossein; Falah, Masoumeh; Meng, Goh Yong; Houshmand, Massoud

    2016-01-01

    Mitochondrial DNA mutations play an important role in causing sensorineural hearing loss. The purpose of this study was to determine the association of the mitochondrial genes RNR1, MT-TL1, and ND1 as well as the nuclear genes GJB2 and GJB6 with audiological examinations in nonfamilial Iranians with cochlear implants, using polymerase chain reaction, DNA sequencing, and RNA secondary structure analysis. We found that there were no novel mutations in the mitochondrial gene 12S rRNA (MT-RNR1) in patients with and without GJB2 mutation (GJB2+ and GJB2−, respectively), but a total of six polymorphisms were found. No mutations were observed in tRNALeu(UUR) (MT-TL1). Furthermore, eight polymorphisms were found in the mitochondrial ND1 gene. Additionally, no mutations were observed in the nuclear GJB6 gene in patients in the GJB2− and GJB2+ groups. The speech intelligibility rating and category of auditory perception tests were statistically assessed in patients in the GJB2− and GJB2+ groups. The results indicated that there was a significant difference (P<0.05) between the categories of auditory perception score in the GJB2− group compared to that in the GJB2+ group. Successful cochlear implantation was observed among individuals with GJB2 mutations (GJB2+) and mitochondrial polymorphisms compared to those without GJB2 mutations (GJB2−). In conclusion, the outcome of this study suggests that variation in the mitochondrial and nuclear genes may influence the penetrance of deafness. Therefore, further genetic and functional studies are required to help patients in making the best choice for cochlear implants. PMID:26889084

  7. Hearing Problems

    MedlinePlus

    ... This flow chart will help direct you if hearing loss is a problem for you or a family ... may damage the inner ear. This kind of hearing loss is called OCCUPATIONAL. Prevent occupational hearing loss by ...

  8. Hearing Aids

    MedlinePlus

    ... more in both quiet and noisy situations. Hearing aids help people who have hearing loss from damage ... your doctor. There are different kinds of hearing aids. They differ by size, their placement on or ...

  9. Parallel evolution of auditory genes for echolocation in bats and toothed whales.

    PubMed

    Shen, Yong-Yi; Liang, Lu; Li, Gui-Sheng; Murphy, Robert W; Zhang, Ya-Ping

    2012-06-01

    The ability of bats and toothed whales to echolocate is a remarkable case of convergent evolution. Previous genetic studies have documented parallel evolution of nucleotide sequences in Prestin and KCNQ4, both of which are associated with voltage motility during the cochlear amplification of signals. Echolocation involves complex mechanisms. The most important factors include cochlear amplification, nerve transmission, and signal re-coding. Herein, we screen three genes that play different roles in this auditory system. Cadherin 23 (Cdh23) and its ligand, protocadherin 15 (Pcdh15), are essential for bundling motility in the sensory hair. Otoferlin (Otof) responds to nerve signal transmission in the auditory inner hair cell. Signals of parallel evolution occur in all three genes in the three groups of echolocators--two groups of bats (Yangochiroptera and Rhinolophoidea) plus the dolphin. Significant signals of positive selection also occur in Cdh23 in the Rhinolophoidea and dolphin, and Pcdh15 in Yangochiroptera. In addition, adult echolocating bats have higher levels of Otof expression in the auditory cortex than do their embryos and non-echolocation bats. Cdh23 and Pcdh15 encode the upper and lower parts of tip-links, and both genes show signals of convergent evolution and positive selection in echolocators, implying that they may co-evolve to optimize cochlear amplification. Convergent evolution and expression patterns of Otof suggest the potential role of nerve and brain in echolocation. Our synthesis of gene sequence and gene expression analyses reveals that positive selection, parallel evolution, and perhaps co-evolution and gene expression affect multiple hearing genes that play different roles in audition, including voltage and bundle motility in cochlear amplification, nerve transmission, and brain function. PMID:22761589

  10. [Molecular biology of hearing].

    PubMed

    Stöver, T; Diensthuber, M

    2011-03-01

    The inner ear is our most sensitive sensory organ and can be subdivided into 3 functional units: organ of Corti, stria vascularis and spiral ganglion. The appropriate stimulus for the organ of hearing is sound which travels through the external auditory canal to the middle ear where it is transmitted to the inner ear. The inner ear habors the hair cells, the sensory cells of hearing. The inner hair cells are capable of mechanotransduction, the transformation of mechanical force into an electrical signal, which is the basic principle of hearing. The stria vascularis generates the endocochlear potential and maintains the ionic homeostasis of the endolymph. The dendrites of the spiral ganglion form synaptic contacts with the hair cells. The spiral ganglion is composed of neurons that transmit the electrical signals from the cochlea to the central nervous system. In the past years there was significant progress in research on the molecular basis of hearing. More and more genes and proteins which are related to hearing can be identified and characterized. The increasing knowledge on these genes contributes not only to a better understanding of the mechanism of hearing but also to a deeper understanding of the molecular basis of hereditary hearing loss. This basic research is a prerequisite for the development of molecular diagnostics and novel therapies for hearing loss.

  11. Molecular biology of hearing

    PubMed Central

    Stöver, Timo; Diensthuber, Marc

    2012-01-01

    The inner ear is our most sensitive sensory organ and can be subdivided into three functional units: organ of Corti, stria vascularis and spiral ganglion. The appropriate stimulus for the organ of hearing is sound, which travels through the external auditory canal to the middle ear where it is transmitted to the inner ear. The inner ear houses the hair cells, the sensory cells of hearing. The inner hair cells are capable of mechanotransduction, the transformation of mechanical force into an electrical signal, which is the basic principle of hearing. The stria vascularis generates the endocochlear potential and maintains the ionic homeostasis of the endolymph. The dendrites of the spiral ganglion form synaptic contacts with the hair cells. The spiral ganglion is composed of neurons that transmit the electrical signals from the cochlea to the central nervous system. In recent years there has been significant progress in research on the molecular basis of hearing. An increasing number of genes and proteins related to hearing are being identified and characterized. The growing knowledge of these genes contributes not only to greater appreciation of the mechanism of hearing but also to a deeper understanding of the molecular basis of hereditary hearing loss. This basic research is a prerequisite for the development of molecular diagnostics and novel therapies for hearing loss. PMID:22558056

  12. Hearing Screening

    ERIC Educational Resources Information Center

    Johnson-Curiskis, Nanette

    2012-01-01

    Hearing levels are threatened by modern life--headsets for music, rock concerts, traffic noises, etc. It is crucial we know our hearing levels so that we can draw attention to potential problems. This exercise requires that students receive a hearing screening for their benefit as well as for making the connection of hearing to listening.

  13. [New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].

    PubMed

    Bliznets, E A; Makienko, O N; Okuneva, E G; Markova, T G; Poliakov, A V

    2014-04-01

    Hereditary hearing loss with the autosomal recessive type of inheritance of the DFNB 1 genetic type, caused by mutations in the GJB2 gene, is the main reason of innate non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defectors; however, extended deletions in the DFNB1 locus are also found with considerable frequency in some populations (for example, Spain, Great Britain, France, United States, and Brazil). Among the four known extended deletions, only one deletion affects directly the GJB2 gene sequence and was described in a single family. A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized. Ingush origin of this mutation is assumed. If the new deletion is frequent, its detection is very important for the genetic consulting of families with hereditary hearing impairment. PMID:25715449

  14. Association between the methylenetetrahydrofolate reductase gene C677T polymorphism and sudden sensorineural hearing loss: a meta-analysis.

    PubMed

    Shu, Jingcheng; Yin, Shihua; Tan, An-Zhou; He, Meirong

    2015-09-01

    A variety of epidemiological studies have evaluated the association between methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and sudden sensorineural hearing loss (SSNHL), but the results were inconsistent. The aim of this meta-analysis was to clarify more accurately the association of this polymorphism with SSNHL. A systematic literature search of the associated studies up to May 1, 2014, was conducted using the following electronic databases: PubMed, Embase, Medline, and the China National Knowledge Infrastructure. Statistical analyses were performed by STATA12.0 software, with odds ratios (ORs) and their 95 % confidence intervals (CIs). Six eligible studies including covering 1,271 objects were identified. A pooled analysis of these studies showed no significant association between C677T polymorphism and risk of SSNHL: T vs. C (OR = 1.334, POR = 0.105); TT vs. CC (OR = 1.580, POR = 0.231); CT vs. CC (OR = 1.500, POR = 0.123); TT vs. CC + CT (OR = 1.326, POR = 0.293); and TT + CT vs. CC (OR = 1.540, POR = 0.102). But in subgroup analysis, a significant association was found in European populations (T vs. C, OR = 1.542, 95 % CI 1.008-2.359, P = 0.046; TT vs. CT + CC, OR = 1.856, 95 % CI 1.245-2.767, P = 0.002). There was no significant association in any model in the Asian populations. The present meta-analysis suggests that MTHFR gene C677T polymorphism is significantly associated with increased risk of SSNHL disease in European populations, but no statistically significant association was found between the MTHFR C677T gene mutation and SSNHL in Asian. Further large and well-designed studies are needed to confirm this association.

  15. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.

    PubMed Central

    Mansergh, F C; Millington-Ward, S; Kennan, A; Kiang, A S; Humphries, M; Farrar, G J; Humphries, P; Kenna, P F

    1999-01-01

    Family ZMK is a large Irish kindred that segregates progressive sensorineural hearing loss and retinitis pigmentosa. The symptoms in the family are almost identical to those observed in Usher syndrome type III. Unlike that in Usher syndrome type III, the inheritance pattern in this family is compatible with dominant, X-linked dominant, or maternal inheritance. Prior linkage studies had resulted in exclusion of most candidate loci and >90% of the genome. A tentative location for a causative nuclear gene had been established on 9q; however, it is notable that no markers were found at zero recombination with respect to the disease gene. The marked variability in symptoms, together with the observation of subclinical muscle abnormalities in a single muscle biopsy, stimulated sequencing of the entire mtDNA in affected and unaffected individuals. This revealed a number of previously reported polymorphisms and/or silent substitutions. However, a C-->A transversion at position 12258 in the gene encoding the second mitochondrial serine tRNA, MTTS2, was heteroplasmic and was found in family members only. This sequence change was not present in 270 normal individuals from the same ethnic background. The consensus C at this position is highly conserved and is present in species as divergent from Homo sapiens as vulture and platypus. The mutation probably disrupts the amino acid-acceptor stem of the tRNA molecule, affecting aminoacylation of the tRNA and thereby reducing the efficiency and accuracy of mitochondrial translation. In summary, the data presented provide substantial evidence that the C12258A mtDNA mutation is causative of the disease phenotype in family ZMK. PMID:10090882

  16. Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.

    PubMed

    Adhikary, Bidisha; Ghosh, Sudakshina; Paul, Silpita; Bankura, Biswabandhu; Pattanayak, Arup Kumar; Biswas, Subhradev; Maity, Biswanath; Das, Madhusudan

    2015-12-01

    Genetically caused nonsyndromic hearing loss is highly heterogeneous. Inspite of this large heterogeneity, mutations in the genes GJB2, GJB6 and SLC26A4 are major contributors. The mutation spectrum of these genes varies among different ethnic groups. Only a handful of studies focused on the altered genetic signature of these genes in different demographic regions of India but never focused on the eastern part of the country. Our study for the first time aimed to characterize the mutation profile of these genes in hearing loss patients of West Bengal state, India. Mutations in GJB2, GJB6 and SLC26A4 genes were screened by bidirectional sequencing from 215 congenital nonsyndromic hearing loss patients. Radiological diagnosis was performed in patients with SLC26A4 mutations by temporal bone CT scan. The study revealed that 4.65% and 6.97% patients had monoallelic and biallelic GJB2 mutations respectively. Six mutations were identified, p.W24X being the most frequent one accounting for 71.05% of the mutated alleles. Mutations in GJB6 including the previously identified deletion mutation (GJB6-D13S1830) were not identified in our study. Further, no patients harbored biallelic mutations in the SLC26A4 gene or the common inner ear malformation Enlarged Vestibular Aqueduct (EVA). The mutation profile of GJB2 in our study is distinct from other parts of India, suggesting that the mutation spectrum of this gene varies with ethnicity and geographical origin. The absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may also contribute to this disease.

  17. About Hearing

    MedlinePlus

    ... ability to hear and understand. The duration and nature of a conductive loss will influence a student's ... nih.gov/health/hearing/neuropathy.asp . Implications: The nature and extent to which the hair cells in ...

  18. Hearing Aids

    MedlinePlus

    ... type and degree of loss. Are there different styles of hearing aids? Styles of hearing aids Source: NIH/NIDCD Behind-the- ... the ear canal and are available in two styles. The in-the-canal (ITC) hearing aid is ...

  19. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA{sup Ser(UCN)} genes in two Chinese families

    SciTech Connect

    Zhu Yi; Liao Zhisu; Li Zhiyuan; Chen Jianfu; Qian Yaping; Tang Xiaowen; Wang Jindan; Yang Li; Li Ronghua; Ji Jinzhang; Choo, Daniel I. |; Lu Jianxin . E-mail: jx@mail.wz.zj.cn; Guan Minxin |||. E-mail: min-xin.guan@chmcc.org

    2006-04-14

    We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNA{sup Ser(UCN)} gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees.

  20. Hearing: Noise-Induced Hearing Loss

    MedlinePlus

    MENU Return to Web version Hearing: Noise-Induced Hearing Loss Hearing: Noise-Induced Hearing Loss The importance of hearing Hearing allows you to ... surround the soft tissue of the inner ear. Hearing loss occurs when the inner ear is damaged. What ...

  1. Nanotechnology in Auditory Research: Membrane Electromechanics in Hearing

    PubMed Central

    Araya, Mussie; Brownell, William E.

    2016-01-01

    The soft, thin membranes that envelop all living cells are 2D, nanoscale, fluid assemblies of phospholipids, sterols, proteins and other molecules. Mechanical interactions between these components facilitate membrane function, a key example of which is ion flow mediated by the mechanical opening and closing of channels. Hearing and balance are initiated by the modulation of ion flow through mechanoreceptor channels in stereocilia membranes. Cochlear amplification by the outer hair cell involves modulation of ion movement by the membrane protein prestin. Voltage gated ion channels shape the receptor potential in hair cells and are responsible for the initiation of action potentials that are at the heart of sensory processing in the brain. All three processes require a membrane and their kinetics are modulated by the mechanical (ie. material) properties of the membrane. This chapter reviews the methodology for measuring the mechanics of cellular membranes and introduces a method for examining membrane electromechanics. The approach allows examination of electromechanically mediated interactions between the different molecular species in the membrane that contribute to the biology of hearing and balance. PMID:27259937

  2. Nanotechnology in Auditory Research: Membrane Electromechanics in Hearing.

    PubMed

    Araya, Mussie; Brownell, William E

    2016-01-01

    The soft, thin membranes that envelop all living cells are 2D, nanoscale, fluid assemblies of phospholipids, sterols, proteins, and other molecules. Mechanical interactions between these components facilitate membrane function, a key example of which is ion flow mediated by the mechanical opening and closing of channels. Hearing and balance are initiated by the modulation of ion flow through mechanoreceptor channels in stereocilia membranes. Cochlear amplification by the outer hair cell involves modulation of ion movement by the membrane protein prestin. Voltage-gated ion channels shape the receptor potential in hair cells and are responsible for the initiation of action potentials that are at the heart of sensory processing in the brain. All three processes require a membrane and their kinetics are modulated by the mechanical (i.e., material) properties of the membrane. This chapter reviews the methodology for measuring the mechanics of cellular membranes and introduces a method for examining membrane electromechanics. The approach allows examination of electromechanically mediated interactions between the different molecular species in the membrane that contribute to the biology of hearing and balance. PMID:27259937

  3. Validation of Reference Genes for RT–qPCR Analysis in Noise–Induced Hearing Loss: A Study in Wistar Rat

    PubMed Central

    Melgar–Rojas, Pedro; Alvarado, Juan Carlos; Fuentes–Santamaría, Verónica; Gabaldón–Ull, María Cruz; Juiz, José M.

    2015-01-01

    The reverse transcriptase–quantitative polymerase chain reaction (RT–qPCR) requires adequate normalization in order to ensure accurate results. The use of reference genes is the most common method to normalize RT–qPCR assays; however, many studies have reported that the expression of frequently used reference genes is more variable than expected, depending on experimental conditions. Consequently, proper validation of the stability of reference genes is an essential step when performing new gene expression studies. Despite the fact that RT–qPCR has been widely used to elucidate molecular correlates of noise–induced hearing loss (NIHL), up to date there are no reports demonstrating validation of reference genes for the evaluation of changes in gene expression after NIHL. Therefore, in this study we evaluated the expression of some commonly used reference genes (Arbp, b–Act, b2m, CyA, Gapdh, Hprt1, Tbp, Tfrc and UbC) and examined their suitability as endogenous control genes for RT–qPCR analysis in the adult Wistar rat in response to NIHL. Four groups of rats were noise–exposed to generate permanent cochlear damage. Cochleae were collected at different time points after noise exposure and the expression level of candidate reference genes was evaluated by RT–qPCR using geNorm, NormFinder and BestKeeper software to determine expression stability. The three independent applications revealed Tbp as the most stably expressed reference gene. We also suggest a group of top–ranked reference genes that can be combined to obtain suitable reference gene pairs for the evaluation of the effects of noise on gene expression in the cochlea. These findings provide essential basis for further RT–qPCR analysis in studies of NIHL using Wistar rats as animal model. PMID:26366995

  4. Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

    PubMed

    Abreu-Silva, R S; Batissoco, A C; Lezirovitz, K; Romanos, J; Rincon, D; Auricchio, M T B M; Otto, P A; Mingroni-Netto, R C

    2006-05-12

    Ballana et al. [E. Ballana, E. Morales, R. Rabionet, B. Montserrat, M. Ventayol, O. Bravo, P. Gasparini, X. Estivill, Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment, Biochem. Biophys. Res. Commun. 341 (2006) 950-957] detected a T1291C mutation segregating in a Cuban pedigree with hearing impairment. They interpreted it as probably pathogenic, based on family history, RNA conformation prediction and its absence in a control group of 95 Spanish subjects. We screened a sample of 203 deaf subjects and 300 hearing controls (110 "European-Brazilians" and 190 "African-Brazilians") for the mitochondrial mutations A1555G and T1291C. Five deaf subjects had the T1291C substitution, three isolated cases and two familial cases. In the latter, deafness was paternally inherited or segregated with the A1555G mutation. This doesn't support the hypothesis of T1291C mutation being pathogenic. Two "African-Brazilian" controls also had the T1291C substitution. Six of the seven T1291C-carriers (five deaf and two controls) had mitochondrial DNA of African origin, belonging to macrohaplogroup L1/L2. Therefore, these data point to T1291C substitution as most probably an African non-pathogenic polymorphism.

  5. Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

    PubMed Central

    Reiisi, Somayeh; Tabatabaiefar, Mohammad Amin; Sanati, Mohammad Hosein; Chaleshtori, Morteza Hashemzadeh

    2016-01-01

    Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide. Materials and Methods: The aim of the present study was to define the role and frequency of MYO15A gene mutation in Iranian families. In this study 30 Iranian families were enrolled with over three deaf children and negative for GJB2. Then linkage analysis was performed by six DFNB3 short tandem repeat markers. Following that, mutation detection accomplished using DNA sequencing. Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A): as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls. Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein.

  6. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome

    PubMed Central

    Chang, Qing; Wang, Jianjun; Li, Qi; Kim, Yeunjung; Zhou, Binfei; Wang, Yunfeng; Li, Huawei; Lin, Xi

    2015-01-01

    Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1−/− mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0–P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner’s membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1−/− mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss. PMID:26084842

  7. Expression levels of the BAK1 and BCL2 genes highlight the role of apoptosis in age-related hearing impairment

    PubMed Central

    Falah, Masoumeh; Najafi, Mohammad; Houshmand, Massoud; Farhadi, Mohammad

    2016-01-01

    Age-related hearing impairment (ARHI) is a progressive and a common sensory disorder in the elderly and will become an increasingly important clinical problem given the growing elderly population. Apoptosis of cochlear cells is an important factor in animal models of ARHI. As these cells cannot regenerate, their loss leads to irreversible hearing impairment. Identification of molecular mechanisms can facilitate disease prevention and effective treatment. In this study, we compared the expression of the genes BAK1 and BCL2 as two arms of the intrinsic apoptosis pathway between patients with ARHI and healthy subjects. ARHI and healthy subjects were selected after an ear nose throat examination, otoscopic investigation, and pure tone audiometry. RNA was extracted from peripheral blood samples, and relative gene expression levels were measured using quantitative real-time polymerase chain reaction. BAK1 and the BAK1/BCL2 ratio were statistically significantly upregulated in the ARHI subjects. The BAK1/BCL2 ratio was positively correlated with the results of the audiometric tests. Our results indicate that BAK-mediated apoptosis may be a core mechanism in the progression of ARHI in humans, similar to finding in animal models. Moreover, the gene expression changes in peripheral blood samples could be used as a rapid and simple biomarker for early detection of ARHI. PMID:27555755

  8. Expression levels of the BAK1 and BCL2 genes highlight the role of apoptosis in age-related hearing impairment.

    PubMed

    Falah, Masoumeh; Najafi, Mohammad; Houshmand, Massoud; Farhadi, Mohammad

    2016-01-01

    Age-related hearing impairment (ARHI) is a progressive and a common sensory disorder in the elderly and will become an increasingly important clinical problem given the growing elderly population. Apoptosis of cochlear cells is an important factor in animal models of ARHI. As these cells cannot regenerate, their loss leads to irreversible hearing impairment. Identification of molecular mechanisms can facilitate disease prevention and effective treatment. In this study, we compared the expression of the genes BAK1 and BCL2 as two arms of the intrinsic apoptosis pathway between patients with ARHI and healthy subjects. ARHI and healthy subjects were selected after an ear nose throat examination, otoscopic investigation, and pure tone audiometry. RNA was extracted from peripheral blood samples, and relative gene expression levels were measured using quantitative real-time polymerase chain reaction. BAK1 and the BAK1/BCL2 ratio were statistically significantly upregulated in the ARHI subjects. The BAK1/BCL2 ratio was positively correlated with the results of the audiometric tests. Our results indicate that BAK-mediated apoptosis may be a core mechanism in the progression of ARHI in humans, similar to finding in animal models. Moreover, the gene expression changes in peripheral blood samples could be used as a rapid and simple biomarker for early detection of ARHI. PMID:27555755

  9. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.

    PubMed

    Chang, Qing; Wang, Jianjun; Li, Qi; Kim, Yeunjung; Zhou, Binfei; Wang, Yunfeng; Li, Huawei; Lin, Xi

    2015-06-17

    Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange-Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1(-/-) mice) to prevent the development of deafness in the adult stage. A modified adeno-associated virus construct carrying a Kcnq1 expression cassette was injected postnatally (P0-P2) into the endolymph, which resulted in Kcnq1 expression in most cochlear marginal cells where native Kcnq1 is exclusively expressed. We also found that extensive ectopic virally mediated Kcnq1 transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner's membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in Kcnq1(-/-) mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20 dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss.

  10. Fetal thymus graft prevents age-related hearing loss and up regulation of the IL-1 receptor type II gene in CD4(+) T cells.

    PubMed

    Iwai, Hiroshi; Inaba, Muneo

    2012-09-15

    We found that rejuvenation of the recipient immunity by inoculation of young CD4(+) T cells or a fetal thymus graft led to down regulation of the interleukin 1 receptor type II (IL-1R2) gene in CD4(+) T cells and reduced age-related hearing loss and degeneration of the spiral ganglion in SAMP1 mice, a murine model of human senescence. Our studies on the relationship between age-related systemic immune dysfunctions and neurodegeneration mechanisms open up new avenues of treatment of neurosenescence, including presbycusis, for which there is no effective therapy.

  11. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34

    PubMed Central

    Karet, Fiona E.; Finberg, Karin E.; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Hulton, Sally A.; Sanjad, Sami A.; Al-Sabban, Essam A.; Medina, Juan F.; Lifton, Richard P.

    1999-01-01

    Summary Failure of distal nephrons to excrete excess acid results in the “distal renal tubular acidoses” (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline urine, poor growth, rickets, and renal calcification. Progressive bilateral sensorineural hearing loss (SNHL) is evident in approximately one-third of patients. We have recently identified mutations in ATP6B1, encoding the B-subunit of the collecting-duct apical proton pump, as a cause of recessive dRTA with SNHL. We now report the results of genetic analysis of 13 kindreds with recessive dRTA and normal hearing. Analysis of linkage and molecular examination of ATP6B1 indicated that mutation in ATP6B1 rarely, if ever, accounts for this phenotype, prompting a genomewide linkage search for loci underlying this trait. The results strongly supported linkage with locus heterogeneity to a segment of 7q33-34, yielding a maximum multipoint LOD score of 8.84 with 68% of kindreds linked. The LOD-3 support interval defines a 14-cM region flanked by D7S500 and D7S688. That 4 of these 13 kindreds do not support linkage to rdRTA2 and ATP6B1 implies the existence of at least one additional dRTA locus. These findings establish that genes causing recessive dRTA with normal and impaired hearing are different, and they identify, at 7q33-34, a new locus, rdRTA2, for recessive dRTA with normal hearing. PMID:10577919

  12. [Hearing implants].

    PubMed

    Stokroos, Robert J; George, Erwin L J

    2013-01-01

    In the Netherlands, more than 1.5 million people suffer from sensorineural hearing loss or deafness. However, fitting conventional hearing aids does not provide a solution for everyone. In recent decades, developments in medical technology have produced implantable and other devices that restore both sensorineural and conductive hearing losses. These hearing devices can be categorized into bone conductive devices, implantable middle ear prostheses, cochlear implants and auditory brainstem implants. Furthermore, new implants aimed at treating tinnitus and loss of vestibular function have recently been developed.

  13. Adaptive evolution of tight junction protein claudin-14 in echolocating whales.

    PubMed

    Xu, Huihui; Liu, Yang; He, Guimei; Rossiter, Stephen J; Zhang, Shuyi

    2013-11-10

    Toothed whales and bats have independently evolved specialized ultrasonic hearing for echolocation. Recent findings have suggested that several genes including Prestin, Tmc1, Pjvk and KCNQ4 appear to have undergone molecular adaptations associated with the evolution of this ultrasonic hearing in mammals. Here we studied the hearing gene Cldn14, which encodes the claudin-14 protein and is a member of tight junction proteins that functions in the organ of Corti in the inner ear to maintain a cationic gradient between endolymph and perilymph. Particular mutations in human claudin-14 give rise to non-syndromic deafness, suggesting an essential role in hearing. Our results uncovered two bursts of positive selection, one in the ancestral branch of all toothed whales and a second in the branch leading to the delphinid, phocoenid and ziphiid whales. These two branches are the same as those previously reported to show positive selection in the Prestin gene. Furthermore, as with Prestin, the estimated hearing frequencies of whales significantly correlate with numbers of branch-wise non-synonymous substitutions in Cldn14, but not with synonymous changes. However, in contrast to Prestin, we found no evidence of positive selection in bats. Our findings from Cldn14, and comparisons with Prestin, strongly implicate multiple loci in the acquisition of echolocation in cetaceans, but also highlight possible differences in the evolutionary route to echolocation taken by whales and bats.

  14. Hearing Assistive Technology

    MedlinePlus

    ... for the Public / Hearing and Balance Hearing Assistive Technology Hearing Assistive Technology: FM Systems | Infrared Systems | Induction ... Assistive Technology Systems Solutions What are hearing assistive technology systems (HATS)? Hearing assistive technology systems (HATS) are ...

  15. Polymorphisms in Genes Involved in Oxidative Stress Response in Patients with Sudden Sensorineural Hearing Loss and Ménière's Disease in a Japanese Population

    PubMed Central

    Uchida, Yasue; Nishio, Naoki; Kato, Ken; Otake, Hironao; Yoshida, Tadao; Suzuki, Hirokazu; Sone, Michihiko; Sugiura, Saiko; Ando, Fujiko; Shimokata, Hiroshi; Nakashima, Tsutomu

    2012-01-01

    The etiologies of idiopathic sudden sensorineural hearing loss (SSNHL) and Ménière's disease remain unclear. Recently, accumulating evidence has demonstrated that oxidative stress is related to the pathology of inner ear disease. Because genetic factors may contribute partly to the etiologies of SSNHL and Ménière's disease, we investigated the associations between genetic polymorphisms located in oxidative stress response genes and susceptibility to SSNHL and Ménière's disease. We compared 84 patients affected by SSNHL, 82 patients affected by Ménière's disease, and 2107 adults (1056 men and 1051 women; mean age, 59.2 years; range, 40–79 years) who participated in the National Institute for Longevity Sciences, Longitudinal Study of Aging. Multiple logistic regression was used to calculate odds ratios for SSNHL and Ménière's disease in individuals with polymorphisms in the genes glutathione peroxidase 1 (GPX1) (Pro198Leu, rs1050450), paraoxonase 1 (PON1) (Gln192Arg, rs662; and Met55Leu, rs854560), PON2 (Ser311Cys, rs7493), and superoxide dismutase 2 (SOD2) (Val16Ala, rs4880), with adjustment for age and gender. No significant differences in the distribution of the genotypes at these polymorphisms were observed among individuals with SSNHL and Ménière's disease and controls. No significant risk for SSNHL and Ménière's disease was observed in the additive genetic model, regardless of moderating variables. The C allele of SOD2 (rs4880) was more frequent in Ménière's disease cases with a hearing level over 50 dB compared with cases with a hearing level below 50 dB, suggesting that this polymorphism is associated with progression of a hearing loss in Ménière's disease. In conclusion, no significant associations between the polymorphisms of GPX1, PON1, PON2, and SOD2 and risk of SSNHL and Ménière's disease were observed in this Japanese case–control study. PMID:22877234

  16. [Hereditary hearing loss: genetic counselling].

    PubMed

    Cabanillas Farpón, Rubén; Cadiñanos Bañales, Juan

    2012-01-01

    The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, the percentage of hereditary hearing loss is unknown. Genetic testing is the highest yielding test for evaluating patients with sensorineural hearing loss. The process of genetic counselling is intended to inform patients and their families of the medical, psychological and familial implications of genetic diseases, as well as the risks, benefits and limitations of genetic testing. The implementation of any genetic analysis must be always preceded by an appropriate genetic counselling process.

  17. Potential treatments for genetic hearing loss in humans: current conundrums.

    PubMed

    Minoda, R; Miwa, T; Ise, M; Takeda, H

    2015-08-01

    Genetic defects are a major cause of hearing loss in newborns. Consequently, hearing loss has a profound negative impact on human daily living. Numerous causative genes for genetic hearing loss have been identified. However, presently, there are no truly curative treatments for this condition. There have been several recent reports on successful treatments in mice using embryonic gene therapy, neonatal gene therapy and neonatal antisense oligonucleotide therapy. Herein, we describe state-of-the-art research on genetic hearing loss treatment through gene therapy and discuss the obstacles to overcome in curative treatments of genetic hearing loss in humans.

  18. Hearing Impairment

    MedlinePlus

    ... known as noise-induced hearing loss (NIHL) . Personal music players are among the chief culprits of NIHL ... exposure to high noise levels (such as loud music) over time can cause permanent damage to the ...

  19. Hearing Aid

    MedlinePlus

    ... and Food and Drug Administration Staff FDA permits marketing of new laser-based hearing aid with potential ... feeds Follow FDA on Twitter Follow FDA on Facebook View FDA videos on YouTube View FDA photos ...

  20. Fish Hearing.

    ERIC Educational Resources Information Center

    Blaxter, J. H. S.

    1980-01-01

    Provides related information about hearing in fish, including the sensory stimulus of sound in the underwater environment, mechanoreceptors in fish, pressure perception and the swimbladder, specializations in sound conduction peculiar to certain fish families. Includes numerous figures. (CS)

  1. Human radiation, experimentation, ethics, and gene therapy. Hearing before the Subcommittee on Energy of the Committee on Science, Space, and Technology, U.S. House of Representatives, One Hundred Third Congress, Second Session, February 10, 1994

    SciTech Connect

    1994-12-31

    The hearing addressed the human radiation experimentation of the Department of Energy (DOE) and the ethics of such treatment and gene therapy. Historical aspects of these subjects and their contributions to advancing current medical treatments are presented. Statements of officials from government, industry and educational institutions are provided along with documents submitted for the record.

  2. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA{sup Lys} gene (G8363A)

    SciTech Connect

    Santorelli, F.M.; Mak, Suk-Chun; El-Schahawi, M.

    1996-05-01

    A novel G8363A mutation in the mtDNA tRNA{sup Lys} gene was associated, in two unrelated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hypertrophic cardiomyopathy. Muscle biopsies from the probands showed mitochondrial proliferation and partial defects of complexes I, III, and IV of the electron-transport chain. The G8363A mutation was very abundant (>95%) in muscle samples from the probands and was less copious in blood from 18 maternal relatives (mean 81.3% {plus_minus} 8.5%). Single-muscle-fiber analysis showed significantly higher levels of mutant genomes in cytochrome c oxidase-negative fibers than in cytochrome c oxidase-positive fibers. The mutation was not found in >200 individuals, including normal controls and patients with other mitochondrial encephalomyopathies, thus fulfilling accepted criteria for pathogenicity. 23 refs., 3 figs., 1 tab.

  3. Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family

    PubMed Central

    Reiisi, Somayeh; Tabatabaiefar, Mohammad Amin; Sanati, Mohammad Hosein; Chaleshtori, Morteza Hashemzadeh

    2016-01-01

    Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive non-syndromic hearing loss (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide. Materials and Methods: The aim of the present study was to define the role and frequency of MYO15A gene mutation in Iranian families. In this study 30 Iranian families were enrolled with over three deaf children and negative for GJB2. Then linkage analysis was performed by six DFNB3 short tandem repeat markers. Following that, mutation detection accomplished using DNA sequencing. Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A): as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls. Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein. PMID:27635202

  4. Hearing Loss in Adults.

    ERIC Educational Resources Information Center

    House, John W.

    1997-01-01

    This article discusses hearing loss in adults. It begins with an explanation of the anatomy of the ear and then explains the three types of hearing loss: conductive hearing loss, sensorineural hearing loss, and mixed conductive-sensorineural hearing loss. Tinnitus, hearing aids, and cochlear implants are also addressed. (CR)

  5. Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

    PubMed

    Ammar, Marwa; Tabebi, Mouna; Sfaihi, Lamia; Alila-Fersi, Olfa; Maalej, Marwa; Felhi, Rahma; Chabchoub, Imen; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza; Mkaouar-Rebai, Emna

    2016-06-10

    Mitochondrial diseases caused by mitochondrial dysfunction are a clinically and genetically, heterogeneous group of disorders involving multiple organs, particularly tissues with high-energy demand. Hearing loss is a recognized symptom of a number of mitochondrial diseases and can result from neuronal or cochlear dysfunction. The tissue affected in this pathology is most probably the cochlear hair cells, which are essential for hearing function since they are responsible for maintaining the ionic gradients necessary for sound signal transduction. Several mitochondrial DNA mutations have been associated with hearing loss and since mitochondria are crucial for the cellular energy supply in many tissues, most of these mtDNA mutations affect several tissues and will cause syndromic hearing loss. In the present study, we described 2 patients with sensorineural hearing loss and neurodevelopmental delay in whom we tested mitochondrial genes described to be associated with syndromic hearing loss. One of these patients showed a novel heteroplasmic mitochondrial mutation m.3861A > C (W185C) which lead to a loss of stability of the ND1 protein since it created a new hydrogen bund between the unique created cystein C185 and the A182 residue. In the second patient, we detected two novel heteroplasmic variations m.12350C > A (T5N) and m.14351T > C (E108G) respectively in the MT-ND5 and the MT-ND6 genes. The TopPred II prediction for the E108G variation revealed a decrease of the hydrophobicity in the mutated MT-ND6. PMID:27155156

  6. A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

    PubMed Central

    Soldà, Giulia; Robusto, Michela; Primignani, Paola; Castorina, Pierangela; Benzoni, Elena; Cesarani, Antonio; Ambrosetti, Umberto; Asselta, Rosanna; Duga, Stefano

    2012-01-01

    The miR-96, miR-182 and miR-183 microRNA (miRNA) family is essential for differentiation and function of the vertebrate inner ear. Recently, point mutations within the seed region of miR-96 were reported in two Spanish families with autosomal dominant non-syndromic sensorineural hearing loss (NSHL) and in a mouse model of NSHL. We screened 882 NSHL patients and 836 normal-hearing Italian controls and identified one putative novel mutation within the miR-96 gene in a family with autosomal dominant NSHL. Although located outside the mature miR-96 sequence, the detected variant replaces a highly conserved nucleotide within the companion miR-96*, and is predicted to reduce the stability of the pre-miRNA hairpin. To evaluate the effect of the detected mutation on miR-96/mir-96* biogenesis, we investigated the maturation of miR-96 by transient expression in mammalian cells, followed by real-time reverse-transcription polymerase chain reaction (PCR). We found that both miR-96 and miR-96* levels were significantly reduced in the mutant, whereas the precursor levels were unaffected. Moreover, miR-96 and miR-96* expression levels could be restored by a compensatory mutation that reconstitutes the secondary structure of the pre-miR-96 hairpin, demonstrating that the mutation hinders precursor processing, probably interfering with Dicer cleavage. Finally, even though the mature miR-96 sequence is not altered, we demonstrated that the identified mutation significantly impacts on miR-96 regulation of selected targets. In conclusion, we provide further evidence of the involvement of miR-96 mutations in human deafness and demonstrate that a quantitative defect of this miRNA may contribute to NSHL. PMID:22038834

  7. Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

    PubMed Central

    Karafet, Tatiana M.; Morozov, Igor V.; Mikhalskaia, Valeriia Yu.; Zytsar, Marina V.; Bondar, Alexander A.

    2016-01-01

    Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identify genes responsible for HL have been challenged by high genetic heterogeneity and different ethnic-specific prevalence of inherited deafness. Here we present the utility of whole exome sequencing (WES) for identifying candidate causal variants for previously unexplained nonsyndromic HL of seven patients from four unrelated Altaian families (the Altai Republic, South Siberia). The WES analysis revealed homozygous missense mutations in three genes associated with HL. Mutation c.2168A>G (SLC26A4) was found in one family, a novel mutation c.1111G>C (OTOF) was revealed in another family, and mutation c.5254G>A (RAI1) was found in two families. Sanger sequencing was applied for screening of identified variants in an ethnically diverse cohort of other patients with HL (n = 116) and in Altaian controls (n = 120). Identified variants were found only in patients of Altaian ethnicity (n = 93). Several lines of evidences support the association of homozygosity for discovered variants c.5254G>A (RAI1), c.1111C>G (OTOF), and c.2168A>G (SLC26A4) with HL in Altaian patients. Local prevalence of identified variants implies possible founder effect in significant number of HL cases in indigenous population of the Altai region. Notably, this is the first reported instance of patients with RAI1 missense mutation whose HL is not accompanied by specific traits typical for Smith-Magenis syndrome. Presumed association of RAI1 gene variant c.5254G>A with isolated HL needs to be proved by further experimental studies. PMID:27082237

  8. Hereditary Non-Syndromic Sensorineural Hearing Loss

    PubMed Central

    Schrijver, Iris

    2004-01-01

    Tremendous progress has been made in our understanding of the molecular basis of hearing and hearing loss. Through recent advances, we have begun to understand the fascinating biology of the auditory system and unveiled new molecular mechanisms of hearing impairment. Changes in the diagnostic impact of genetic testing have occurred, as well as exciting developments in therapeutic options. Molecular diagnosis, which is already a reality for several hearing-associated genes, will doubtlessly continue to increase in the near future, both in terms of the number of mutations tested and the spectrum of genes. Genetic analysis for hearing loss is mostly used for diagnosis and treatment, and relatively rarely for reproductive decisions, in contrast to other inherited disorders. Inherited hearing loss, however, is characterized by impressive genetic heterogeneity. An abundance of genes carry a large number of mutations, but specific mutations in a single gene may lead to syndromic or non-syndromic hearing loss. Some mutations predominate in individual ethnic groups. For clinical and laboratory diagnosticians, it is challenging to keep abreast of the unfolding discoveries. This review aims to provide the framework pertinent to diagnosticians and a practical approach to mutation analysis in the hearing impaired. PMID:15507665

  9. Genetic Effects on Sensorineural Hearing Loss and Evidence-based Treatment for Sensorineural Hearing Loss.

    PubMed

    Yu, Yong-qiang; Yang, Huai-an; Xiao, Ming; Wang, Jing-wei; Huang, Dong-yan; Bhambhani, Yagesh; Sonnenberg, Lyn; Clark, Brenda; Jin, Yuan-zhe; Fu, Wei-neng; Zhang, Jie; Yu, Qian; Liang, Xue-ting; Zhang, Ming

    2015-09-01

    In this article, the mechanism of inheritance behind inherited hearing loss and genetic susceptibility in noise-induced hearing loss are reviewed. Conventional treatments for sensorineural hearing loss (SNHL), i.e. hearing aid and cochlear implant, are effective for some cases, but not without limitations. For example, they provide little benefit for patients of profound SNHL or neural hearing loss, especially when the hearing loss is in poor dynamic range and with low frequency resolution. We emphasize the most recent evidence-based treatment in this field, which includes gene therapy and allotransplantation of stem cells. Their promising results have shown that they might be options of treatment for profound SNHL and neural hearing loss. Although some treatments are still at the experimental stage, it is helpful to be aware of the novel therapies and endeavour to explore the feasibility of their clinical application.

  10. Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population.

    PubMed

    Du, Jihong; Deng, Jianhua

    2016-01-01

    BACKGROUND The aim of this study was to investigate whether the TGFA/TGFB3/MSX1 gene polymorphisms and haplotypes lead to individual differences between congenital non-syndromic hearing impairment (NSHI) patients and normal people in a Chinese population and to analyze the risk factors for NSHI. MATERIAL AND METHODS Between December 2010 and September 2014, 343 congenital NSHI patients were recruited as cases, and 272 healthy subjects were recruited as controls. Denaturing high-performance liquid chromatography (DHPLC) was used to identify genotypes, SHEsis software was used to conduct gene linkage disequilibrium and haplotype analyses, and regression analysis was performed to identify risk factors for congenital NSHI. RESULTS The distribution of genotype frequencies and allele frequencies of TGFA rs3771494, TGFB3 rs3917201 and rs2268626, and MSX1 rs3821949 and rs62636562 were significantly different between the case and the control groups (all P<0.05). TGFA/TGFB3/MSX1 gene rs3771494, rs1058213, rs3917201, rs2268626, rs3821949, and rs62636562 haplotype analysis showed that haplotype CCGTAC and TTACGT might be protective factors (both P<0.001), while TTGCGC might be a risk factor for the normal population (P<0.001). The other risk factors include paternal smoking, advanced maternal age, maternal sickness history, maternal contact with pesticides or similar drugs, maternal abortion history, maternal medication history, maternal passive smoking history during pregnancy, rs3771494 CT, rs2268626 CC and TC, and rs3821949 GG and AG genotypes were risk factors (all P<0.05), while maternal vitamin supplements during pregnancy, rs3917201 GA, rs62636562 TT and CT genotypes were protective factors for congenital NSHI (all P<0.05). CONCLUSIONS rs3771494, rs3917201, rs2268626, rs3821949 and rs62636562 might be associated with congenital NSHI. PMID:27356075

  11. Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population

    PubMed Central

    Du, Jihong; Deng, Jianhua

    2016-01-01

    Background The aim of this study was to investigate whether the TGFA/TGFB3/MSX1 gene polymorphisms and haplotypes lead to individual differences between congenital non-syndromic hearing impairment (NSHI) patients and normal people in a Chinese population and to analyze the risk factors for NSHI. Material/Methods Between December 2010 and September 2014, 343 congenital NSHI patients were recruited as cases, and 272 healthy subjects were recruited as controls. Denaturing high-performance liquid chromatography (DHPLC) was used to identify genotypes, SHEsis software was used to conduct gene linkage disequilibrium and haplotype analyses, and regression analysis was performed to identify risk factors for congenital NSHI. Results The distribution of genotype frequencies and allele frequencies of TGFA rs3771494, TGFB3 rs3917201 and rs2268626, and MSX1 rs3821949 and rs62636562 were significantly different between the case and the control groups (all P<0.05). TGFA/TGFB3/MSX1 gene rs3771494, rs1058213, rs3917201, rs2268626, rs3821949, and rs62636562 haplotype analysis showed that haplotype CCGTAC and TTACGT might be protective factors (both P<0.001), while TTGCGC might be a risk factor for the normal population (P<0.001). The other risk factors include paternal smoking, advanced maternal age, maternal sickness history, maternal contact with pesticides or similar drugs, maternal abortion history, maternal medication history, maternal passive smoking history during pregnancy, rs3771494 CT, rs2268626 CC and TC, and rs3821949 GG and AG genotypes were risk factors (all P<0.05), while maternal vitamin supplements during pregnancy, rs3917201 GA, rs62636562 TT and CT genotypes were protective factors for congenital NSHI (all P<0.05). Conclusions rs3771494, rs3917201, rs2268626, rs3821949 and rs62636562 might be associated with congenital NSHI. PMID:27356075

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

    PubMed

    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

    2015-04-01

    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. PMID:25880434

  13. Genome-Wide Association Study Identifies Nox3 as a Critical Gene for Susceptibility to Noise-Induced Hearing Loss

    PubMed Central

    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.

    2015-01-01

    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. PMID:25880434

  14. Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse.

    PubMed

    Rak, Kristen; Frenz, Silke; Radeloff, Andreas; Groh, Janos; Jablonka, Sibylle; Martini, Rudolf; Hagen, Rudolf; Mlynski, Robert

    2013-12-01

    The progressive motor neuronopathy (pmn/pmn) mouse, an animal model for a fast developing human motor neuron disorder, is additionally characterized by simultaneous progressive sensorineural hearing loss. The gene defect in the pmn/pmn mouse is localized to a missense mutation in the tubulin-specific chaperone E (TBCE) gene on mouse chromosome 13, which is one of the five tubulin-specific chaperons involved in tubulin folding and dimerization. The missense mutation leads to a disturbance of tubulin structures in the auditory nerve and a progressive outer hair cell loss due to apoptosis, which is accompanied by highly elevated ABR-thresholds and loss of DPOAEs. In addition the TBCE protein is selectively expressed in the outer hair cells and the transcellular processes of the inner pillar cells in the cochlea of control and pmn/pmn mouse. We conclude from our study that the mutation of the TBCE gene affects the auditory nerve and the cochlear hair cells simultaneously, leading to progressive hearing loss. This animal model will give the chance to test possible therapeutic strategies in special forms of hearing loss, in which the auditory nerve and the cochlear hair cells are simultaneously affected. PMID:24120439

  15. Noise and Hearing Protection

    MedlinePlus

    ... particularly because such exposure is avoidable. What causes hearing loss? The ear has three main parts: the outer, ... can I tell if my hearing is damaged? Hearing loss usually develops over a period of several years. ...

  16. Help with Hearing

    MedlinePlus

    ... hearing. This problem can make it more diffi- cult to learn speech sounds and language correctly. Take ... how your child is hearing. See how diffi- cult it is to hear words correctly? Some children ...

  17. Hearing Loss and Older Adults

    MedlinePlus

    ... Home » Health Info » Hearing, Ear Infections, and Deafness Hearing Loss and Older Adults On this page: What is ... about hearing loss and older adults? What is hearing loss? Hearing loss is a sudden or gradual decrease ...

  18. Junctional Music that the Nucleus Hears: Cell–Cell Contact Signaling and the Modulation of Gene Activity

    PubMed Central

    McCrea, Pierre D.; Gu, Dongmin; Balda, Maria S.

    2009-01-01

    Cell–cell junctions continue to capture the interest of cell and developmental biologists, with an emerging area being the molecular means by which junctional signals relate to gene activity in the nucleus. Although complexities often arise in determining the direct versus indirect nature of such signal transduction, it is clear that such pathways are essential for the function of tissues and that alterations may contribute to many pathological outcomes. This review assesses a variety of cell–cell junction-to-nuclear signaling pathways, and outlines interesting areas for further study. PMID:20066098

  19. MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

    PubMed Central

    Ballana, Ester; Mercader, Josep Maria; Fischel-Ghodsian, Nathan; Estivill, Xavier

    2007-01-01

    Background Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Biochemical and genetic data have suggested that nuclear background is the main factor involved in modulating the phenotypic expression of mutation A1555G. However, although a major nuclear modifying locus was located on chromosome 8p23.1 and regardless intensive screening of the region, the gene involved has not been identified. Methods With the aim to gain insights into the factors that determine the phenotypic expression of A1555G mutation, we have analysed in detail different genetic and genomic elements on 8p23.1 region (DEFA3 gene absence, CLDN23 gene and MRPS18CP2 pseudogene) in a group of 213 A1555G carriers. Results Family based association studies identified a positive association for a polymorphism on MRPS18CP2 and an overrepresentation of DEFA3 gene absence in the deaf group of A1555G carriers. Conclusion Although none of the factors analysed seem to have a major contribution to the phenotype, our findings provide further evidences of the involvement of 8p23.1 region as a modifying locus for A1555G 12S rRNA gene mutation. PMID:18154640

  20. Molecular and clinical characterisation of three Spanish families with maternally inherited non‐syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene

    PubMed Central

    Rodríguez‐Ballesteros, M; Olarte, M; Aguirre, L A; Galán, F; Galán, R; Vallejo, L A; Navas, C; Villamar, M; Moreno‐Pelayo, M A; Moreno, F; del Castillo, I

    2006-01-01

    Mutations in the 12S rRNA gene of the mitochondrial genome are responsible for maternally inherited non‐syndromic hearing loss (NSHL), and for increased susceptibility to the ototoxicity of aminoglycoside antibiotics. Among these mutations, 1555A→G is the most prevalent in all populations tested so far. Recently, the 1494C→T mutation was reported in two large Chinese pedigrees with maternally inherited NSHL. In this study, sequencing of the 12S rRNA gene in a Spanish family with maternally inherited NSHL showed the presence of the 1494C→T mutation. An additional screening of 1339 unrelated Spanish patients with NSHL allowed the authors to find two other families with the mutation. Audiological data were obtained from 17 confirmed 1494C→T carriers, which showed that the hearing loss was sensorineural, bilateral and symmetrical, with a remarkable variability in age of onset and severity. Three carriers were asymptomatic. Three affected carriers had a history of treatment with aminoglycoside antibiotics. The mitochondrial genome of one affected person from each of these three families was entirely sequenced, and it was established that they belong to different mitochondrial haplogroups (H, U5b, U6a). The study results further support the pathogenic role of 1494C→T on hearing, and show that this mutation can be found in different Caucasian mitochondrial DNA backgrounds. PMID:17085680

  1. Sound Strategies for Hearing Restoration

    PubMed Central

    Géléoc, Gwenaëlle S.G.; Holt, Jeffrey R.

    2014-01-01

    Hearing loss is the most common sensory deficit in humans with some estimates suggesting up to 300 million affected individuals worldwide. Both environmental and genetic factors contribute to hearing loss and can cause death of sensory cells and neurons. Since these cells do not regenerate, the damage tends to accumulate leading to profound deafness. Several biological strategies to restore auditory function are currently under investigation. Due to the success of cochlear implants, which offer partial recovery of auditory function for some profoundly deaf patients, potential biological therapies must extend hearing restoration to include greater auditory acuity and larger patient populations. Here we review the latest gene, stem-cell, and molecular strategies for restoring auditory function in animal models and the prospects for translating these approaches into viable clinical therapies. PMID:24812404

  2. Sound strategies for hearing restoration.

    PubMed

    Géléoc, Gwenaëlle S G; Holt, Jeffrey R

    2014-05-01

    Hearing loss is the most common sensory deficit in humans, with some estimates suggesting up to 300 million affected individuals worldwide. Both environmental and genetic factors contribute to hearing loss and can cause death of sensory cells and neurons. Because these cells do not regenerate, the damage tends to accumulate, leading to profound deafness. Several biological strategies to restore auditory function are currently under investigation. Owing to the success of cochlear implants, which offer partial recovery of auditory function for some profoundly deaf patients, potential biological therapies must extend hearing restoration to include greater auditory acuity and larger patient populations. Here, we review the latest gene, stem-cell, and molecular strategies for restoring auditory function in animal models and the prospects for translating these approaches into viable clinical therapies. PMID:24812404

  3. [Hearing preservation: Better hearing with advanced technology].

    PubMed

    Rader, T; Helbig, S; Stöver, T; Baumann, U

    2014-05-01

    Preservation of residual hearing after cochlear implantation allows patients the synergetic use of electric and acoustic stimulation (EAS). The application of specific surgical and therapeutic techniques enables the reduction of inner ear trauma, which leads otherwise to complete hearing loss. Due to simultaneous electric and acoustic stimulation, speech understanding is improved especially in noise. EAS is a well-accepted therapeutic treatment for subjects with profound hearing loss in the higher frequencies and no or mild hearing loss in the low frequencies. Several Manufacturers offer individual soft electrodes specially designed for hearing preservation as well as combined electric-acoustic audio processors. PMID:24782208

  4. The Master Hearing Aid

    PubMed Central

    Curran, James R.

    2013-01-01

    As early as the 1930s the term Master Hearing Aid (MHA) described a device used in the fitting of hearing aids. In their original form, the MHA was a desktop system that allowed for simulated or actual adjustment of hearing aid components that resulted in a changed hearing aid response. Over the years the MHA saw many embodiments and contributed to a number of rationales for the fitting of hearing aids. During these same years, the MHA was viewed by many as an inappropriate means of demonstrating hearing aids; the audio quality of the desktop systems was often superior to the hearing aids themselves. These opinions and the evolution of the MHA have molded the modern perception of hearing aids and the techniques used in the fitting of hearing aids. This article reports on a history of the MHA and its influence on the fitting of hearing aids. PMID:23686682

  5. Advances in genetic diagnostics for hereditary hearing loss.

    PubMed

    Idan, Natali; Brownstein, Zippora; Shivatzki, Shaked; Avraham, Karen B

    2013-01-01

    Hereditary hearing loss affects a significant proportion of the hearing impaired, with genetic mutations estimated to be responsible for its etiology in over 50% of this population. The methods for molecular diagnostics are changing as a result of the transition from linkage analysis to next generation sequencing to identify the genes responsible for hearing loss in affected families. In this review, we summarize the attitudes of the hearing impaired towards genetic testing, the latest techniques for identifying mutations, and provide a comprehensive list of the mutations found in the Israeli Jewish hearing-impaired population.

  6. Canine hearing loss management.

    PubMed

    Scheifele, Lesa; Clark, John Greer; Scheifele, Peter M

    2012-11-01

    Dog owners and handlers are naturally concerned when suspicion of hearing loss arises for their dogs. Questions frequently asked of the veterinarian center on warning signs of canine hearing loss and what can be done for the dog if hearing loss is confirmed. This article addresses warning signs of canine hearing loss, communication training and safety awareness issues, and the feasibility of hearing aid amplification for dogs.

  7. Biophysical Mechanisms Underlying Hearing Loss Associated with a Shortened Tectorial Membrane

    NASA Astrophysics Data System (ADS)

    Oghalai, John S.; Xia, Anping; Liu, Christopher C.; Gao, Simon S.; Applegate, Brian E.; Puria, Sunil; Rousso, Itay; Steele, Charles

    2011-11-01

    The tectorial membrane (TM) connects to the stereociliary bundles of outer hair cells (OHCs). Herein, we summarize key experimental data and modeling analyses that describe how biophysical alterations to these connections underlie hearing loss. The heterozygous C1509G mutation in alpha tectorin produces partial congenital hearing loss that progresses in humans. We engineered this mutation in mice, and histology revealed that the TM was shortened. DIC imaging of freshly-dissected cochlea as well as imaging with optical coherence tomography indicated that the TM is malformed and only stimulates the first row of OHCs. Noise exposure produced acute threshold shifts that fully recovered in Tecta+/+ mice although there was some OHC loss within all three rows at the cochlear base. In contrast, threshold shifts only partially recovered in TectaC1509G/+ mice. This was associated with OHC loss more apically and nearly entirely within the first row. Young's modulus of the TM, measured using atomic force microscopy, was substantially reduced at the middle and basal regions. Both the wild-type and heterozygous conditions were simulated in a computational model. This demonstrated that the normalized stress distribution levels between the TM and the tall cilia were significantly elevated in the middle region of the heterozygous cochlea. Another feature of the TectaC1509G/+ mutation is higher prestin expression within all three rows of OHCs. This increased electricallyevoked movements of the reticular lamina and otoacoustic emissions. Furthermore, electrical stimulation was associated with an increased risk of OHC death as measured by vital dye staining. Together, these findings indicate that uncoupling of the TM from some OHCs not only leads to partial hearing loss, but also puts the OHCs that remain coupled at higher risk. Both the mechanics of the malformed TM and increased electromotility contribute to this higher risk profile.

  8. Pannexin 1 deficiency can induce hearing loss.

    PubMed

    Zhao, Hong-Bo; Zhu, Yan; Liang, Chun; Chen, Jin

    Gap junctions play a critical role in hearing. Connexin gap junction gene mutations can induce a high incidence of hearing loss. Pannexin (Panx) gene also encodes gap junction proteins in vertebrates. Panx1 is a predominant pannexin isoform and has extensive expression in the cochlea. Here, we report that deletion of Panx1 in the cochlea could produce a progressive hearing loss. The auditory brainstem response (ABR) recording showed that hearing loss was moderate to severe and severe at high-frequencies. Distortion product otoacoustic emission (DPOAE), which reflects the activity of active cochlear mechanics that can amply acoustic stimulation to enhance hearing sensitivity and frequency selectivity, was also reduced. We further found that Panx1 deficiency could activate Caspase-3 cell apoptotic pathway in the cochlea to cause hair cells and other types of cells degeneration. These data indicate that like connexins Panx1 deficiency can also induce hearing loss. These data also suggest that pannexins play important rather than redundant roles in the cochlea and hearing.

  9. Low Iron Diet Increases Susceptibility to Noise-Induced Hearing Loss in Young Rats.

    PubMed

    Yu, Fei; Hao, Shuai; Yang, Bo; Zhao, Yue; Yang, Jun

    2016-01-01

    We evaluated the role of iron deficiency (ID) without anemia on hearing function and cochlear pathophysiology of young rats before and after noise exposure. We used rats at developmental stages as an animal model to induce ID without anemia by dietary iron restriction. We have established this dietary restriction model in the rat that should enable us to study the effects of iron deficiency in the absence of severe anemia on hearing and ribbon synapses. Hearing function was measured on Postnatal Day (PND) 21 after induction of ID using auditory brainstem response (ABR). Then, the young rats were exposed to loud noise on PND 21. After noise exposure, hearing function was again measured. We observed the morphology of ribbon synapses, hair cells and spiral ganglion cells (SGCs), and assessed the expression of myosin VIIa, vesicular glutamate transporter 3 and prestin in the cochlea. ID without anemia did not elevate ABR threshold shifts, but reduced ABR wave I peak amplitude of young rats. At 70, 80, and 90 dB SPL, amplitudes of wave I (3.11 ± 0.96 µV, 3.52 ± 1.31 µV, and 4.37 ± 1.08 µV, respectively) in pups from the ID group were decreased compared to the control (5.92 ± 1.67 µV, 6.53 ± 1.70 µV, and 6.90 ± 1.76 µV, respectively) (p < 0.05). Moreover, ID without anemia did not impair the morphology hair cells and SGCs, but decreased the number of ribbon synapses. Before noise exposure, the mean number of ribbon synapses per inner hair cell (IHC) was significantly lower in the ID group (8.44 ± 1.21) compared to that seen in the control (13.08 ± 1.36) (p < 0.05). In addition, the numbers of ribbon synapses per IHC of young rats in the control (ID group) were 6.61 ± 1.59, 3.07 ± 0.83, 5.85 ± 1.63 and 12.25 ± 1.97 (3.75 ± 1.45, 2.03 ± 1.08, 3.81 ± 1.70 and 4.01 ± 1.65) at 1, 4, 7 and 14 days after noise exposure, respectively. Moreover, ABR thresholds at 4 and 8 kHz in young rats from the ID group were significantly elevated at 7 and 14 days after

  10. Low Iron Diet Increases Susceptibility to Noise-Induced Hearing Loss in Young Rats

    PubMed Central

    Yu, Fei; Hao, Shuai; Yang, Bo; Zhao, Yue; Yang, Jun

    2016-01-01

    We evaluated the role of iron deficiency (ID) without anemia on hearing function and cochlear pathophysiology of young rats before and after noise exposure. We used rats at developmental stages as an animal model to induce ID without anemia by dietary iron restriction. We have established this dietary restriction model in the rat that should enable us to study the effects of iron deficiency in the absence of severe anemia on hearing and ribbon synapses. Hearing function was measured on Postnatal Day (PND) 21 after induction of ID using auditory brainstem response (ABR). Then, the young rats were exposed to loud noise on PND 21. After noise exposure, hearing function was again measured. We observed the morphology of ribbon synapses, hair cells and spiral ganglion cells (SGCs), and assessed the expression of myosin VIIa, vesicular glutamate transporter 3 and prestin in the cochlea. ID without anemia did not elevate ABR threshold shifts, but reduced ABR wave I peak amplitude of young rats. At 70, 80, and 90 dB SPL, amplitudes of wave I (3.11 ± 0.96 µV, 3.52 ± 1.31 µV, and 4.37 ± 1.08 µV, respectively) in pups from the ID group were decreased compared to the control (5.92 ± 1.67 µV, 6.53 ± 1.70 µV, and 6.90 ± 1.76 µV, respectively) (p < 0.05). Moreover, ID without anemia did not impair the morphology hair cells and SGCs, but decreased the number of ribbon synapses. Before noise exposure, the mean number of ribbon synapses per inner hair cell (IHC) was significantly lower in the ID group (8.44 ± 1.21) compared to that seen in the control (13.08 ± 1.36) (p < 0.05). In addition, the numbers of ribbon synapses per IHC of young rats in the control (ID group) were 6.61 ± 1.59, 3.07 ± 0.83, 5.85 ± 1.63 and 12.25 ± 1.97 (3.75 ± 1.45, 2.03 ± 1.08, 3.81 ± 1.70 and 4.01 ± 1.65) at 1, 4, 7 and 14 days after noise exposure, respectively. Moreover, ABR thresholds at 4 and 8 kHz in young rats from the ID group were significantly elevated at 7 and 14 days after

  11. Noise-Induced Hearing Loss

    MedlinePlus

    ... Info » Hearing, Ear Infections, and Deafness Noise-Induced Hearing Loss On this page: What is noise-induced hearing ... additional information about NIHL? What is noise-induced hearing loss? Every day, we experience sound in our environment, ...

  12. Actin in hair cells and hearing loss.

    PubMed

    Drummond, Meghan C; Belyantseva, Inna A; Friderici, Karen H; Friedman, Thomas B

    2012-06-01

    Hereditary deafness is genetically heterogeneous such that mutations of many different genes can cause hearing loss. This review focuses on the evidence and implications that several of these deafness genes encode actin-interacting proteins or actin itself. There is a growing appreciation of the contribution of the actin interactome in stereocilia development, maintenance, mechanotransduction and malfunction of the auditory system.

  13. [Hereditary hearing loss: Part 1: diagnostic overview and practical advice].

    PubMed

    Burke, W F; Lenarz, T; Maier, H

    2013-04-01

    Hearing loss is the most frequently occurring congenital sensory defect in humans. It is believed that between one and five of every 1000 children born suffers from hearing loss of at least 40 dB. The economic consequences of deafness are staggering and affect not only the individual patient but also society as a whole. A genetic cause is suspected in 50 %-70 % of cases of congenital hearing loss. To date over 130 loci have been associated with genetic hearing loss, with some loci containing more than one gene and others containing as yet unidentified genes. The present article is intended to provide some insight into the complex background issues involved and offer guidance on appropriate decision-making with regard to genetic testing in affected patients. Part 1 is concerned with non-syndromic hearing loss, while part 2 deals with syndromic hearing loss.

  14. Genetics of Hearing Loss

    MedlinePlus

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  15. Living with Hearing Loss

    MedlinePlus

    ... Issues Special Section: Focus on Communication Living with Hearing Loss Past Issues / Fall 2008 Table of Contents ... family, including dad Bob, have adapted to her hearing impairment. Photo courtesy of Stefan Radtke, www.stefanradtke. ...

  16. Hearing Aid Assembly

    NASA Technical Reports Server (NTRS)

    Grugel, Richard N. (Inventor)

    2002-01-01

    Progress in hearing aids has come a long way. Yet despite such progress hearing aids are not the perfect answer to many hearing problems. Some adult ears cannot accommodate tightly fitting hearing aids. Mouth movements such as chewing, talking, and athletic or other active endeavors also lead to loosely fitting ear molds. It is well accepted that loosely fitting hearing aids are the cause of feedback noise. Since feedback noise is the most common complaint of hearing aid wearers it has been the subject of various patents. Herein a hearing aid assembly is provided eliminating feedback noise. The assembly includes the combination of a hearing aid with a headset developed to constrict feedback noise.

  17. Can Baby Hear?

    MedlinePlus

    ... 000 children born in the United States are deaf or hard-of-hearing. Research shows that early ... to this, the average age of identification for deaf and hearing impaired children was close to three ...

  18. Hearing Disorders and Deafness

    MedlinePlus

    ... impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all. ... certain medicines, and surgery. NIH: National Institute on Deafness and Other Communication Disorders

  19. The Hearing Mechanism

    ERIC Educational Resources Information Center

    Sherbon, James W.

    1978-01-01

    An examination of the hearing mechanism and some of the factors involved in helping problems may offer encouragement for a regular schedule of hearing maintenance. It may also help music educators to become more aware and understanding of their own and students' hearing as it affects musical behavior. (Author)

  20. Hearing Conservation Medical Program

    NASA Technical Reports Server (NTRS)

    1993-01-01

    Background on hearing impairment is presented including causes and criteria for safe noise levels. The purpose of the Hearing Conservation Program at LeRC is outlined, and the specifics of the Medical Surveillance Program for Hearing Impairment at LeRC are discussed.

  1. Hearing-aid tester

    NASA Technical Reports Server (NTRS)

    Kessinger, R.; Polhemus, J. T.; Waring, J. G.

    1977-01-01

    Hearing aids are automatically checked by circuit that applies half-second test signal every thirty minutes. If hearing-aid output is distorted, too small, or if battery is too low, a warning lamp is activated. Test circuit is incorporated directly into hearing-aid package.

  2. Deafness and Hearing Loss.

    ERIC Educational Resources Information Center

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This brief overview provides information on the definition, incidence, and characteristics of children with hearing impairments and deafness. The federal definitions of hearing impairment and deafness are provided. The different types of hearing loss are noted, including: (1) conductive (caused by diseases or obstructions in the outer or middle…

  3. Implementing Hearing Safety

    ERIC Educational Resources Information Center

    Cliffe, Roger

    1978-01-01

    Hearing damage from noise exposure and approaches to implementing hearing safety in school industrial laboratories through noise reduction and protective equipment are discussed. Although all states have not adopted the Occupational Safety and Health Act, teachers should be aware of noise hazards and act to protect hearing. (MF)

  4. Rehabilitation of Hearing.

    ERIC Educational Resources Information Center

    World Federation of the Deaf, Rome (Italy).

    Rehabilitation of hearing is considered in five conference papers. Two papers come from Poland: "Rehabilitation of Hearing in Children 'Deaf' in First 5 Years of Age" by D. Borkowska-Gaertig and others and "Possibilities of Hearing Improvement in Adults with Conservative Methods" by T. Bystrzanowska. Also included are "Re-Education and…

  5. Hearing Problems in Children

    MedlinePlus

    ... before they are a month old. If your child has a hearing loss, it is important to consider the use of hearing devices and other communication options by age 6 months. That's because children start learning speech and language long before they talk. Hearing ...

  6. The LINC complex is essential for hearing.

    PubMed

    Horn, Henning F; Brownstein, Zippora; Lenz, Danielle R; Shivatzki, Shaked; Dror, Amiel A; Dagan-Rosenfeld, Orit; Friedman, Lilach M; Roux, Kyle J; Kozlov, Serguei; Jeang, Kuan-Teh; Frydman, Moshe; Burke, Brian; Stewart, Colin L; Avraham, Karen B

    2013-02-01

    Hereditary hearing loss is the most common sensory deficit. We determined that progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for the protein truncating mutation SYNE4 c.228delAT. SYNE4, a gene not previously associated with hearing loss, encodes nesprin-4 (NESP4), an outer nuclear membrane (ONM) protein expressed in the hair cells of the inner ear. The truncated NESP4 encoded by the families' mutation did not localize to the ONM. NESP4 and SUN domain-containing protein 1 (SUN1), which localizes to the inner nuclear membrane (INM), are part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. Mice lacking either Nesp4 or Sun1 were evaluated for hair cell defects and hearing loss. In both Nesp4-/- and Sun1-/- mice, OHCs formed normally, but degenerated as hearing matured, leading to progressive hearing loss. The nuclei of OHCs from mutant mice failed to maintain their basal localization, potentially affecting cell motility and hence the response to sound. These results demonstrate that the LINC complex is essential for viability and normal morphology of OHCs and suggest that the position of the nucleus in sensory epithelial cells is critical for maintenance of normal hearing.

  7. Neonatal hearing screening.

    PubMed

    Kenna, Margaret A

    2003-04-01

    Neonatal hearing screening can be performed using reliable and reproducible methods. Intervention before the age of 6 months with hearing aids and appropriate educational support services will give the infant the best possible opportunity to develop language. Potential barriers to efficient implementation of a neonatal hearing screening program include access to appropriate and timely diagnostic and support services and insurance to cover the services. Without universal neonatal hearing screening, many children with hearing loss will be missed, which will have a direct negative impact on their speech, language, educational, and social development. PMID:12809324

  8. Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).

    PubMed

    Barashkov, Nikolay A; Pshennikova, Vera G; Posukh, Olga L; Teryutin, Fedor M; Solovyev, Aisen V; Klarov, Leonid A; Romanov, Georgii P; Gotovtsev, Nyurgun N; Kozhevnikov, Andrey A; Kirillina, Elena V; Sidorova, Oksana G; Vasilyevа, Lena M; Fedotova, Elvira E; Morozov, Igor V; Bondar, Alexander A; Solovyevа, Natalya A; Kononova, Sardana K; Rafailov, Adyum M; Sazonov, Nikolay N; Alekseev, Anatoliy N; Tomsky, Mikhail I; Dzhemileva, Lilya U; Khusnutdinova, Elza K; Fedorova, Sardana A

    2016-01-01

    Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts-296, Russians-51, mixed and other ethnicities-46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut

  9. Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

    PubMed Central

    Posukh, Olga L.; Teryutin, Fedor M.; Solovyev, Aisen V.; Klarov, Leonid A.; Romanov, Georgii P.; Gotovtsev, Nyurgun N.; Kozhevnikov, Andrey A.; Kirillina, Elena V.; Sidorova, Oksana G.; Vasilyevа, Lena M.; Fedotova, Elvira E.; Morozov, Igor V.; Bondar, Alexander A.; Solovyevа, Natalya A.; Kononova, Sardana K.; Rafailov, Adyum M.; Sazonov, Nikolay N.; Alekseev, Anatoliy N.; Tomsky, Mikhail I.; Dzhemileva, Lilya U.; Khusnutdinova, Elza K.; Fedorova, Sardana A.

    2016-01-01

    Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts—296, Russians—51, mixed and other ethnicities—46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut

  10. Hearing loss in space

    NASA Technical Reports Server (NTRS)

    Buckey, J. C. Jr; Musiek, F. E.; Kline-Schoder, R.; Clark, J. C.; Hart, S.; Havelka, J.

    2001-01-01

    BACKGROUND: Temporary and, in some cases, permanent hearing loss has been documented after long-duration spaceflights. METHODS: We examined all existing published data on hearing loss after space missions to characterize the losses. RESULTS: Data from Russian missions suggest that the hearing loss, when it occurs, affects mainly mid to high frequencies and that using hearing protection often might prevent the loss. Several significant questions remain about hearing loss in space. While the hearing loss has been presumed to be noise-induced, no clear link has been established between noise exposure and hearing loss during spaceflight. In one documented case of temporary hearing loss from the Shuttle-Mir program, the pattern of loss was atypical for a noise-induced loss. Continuous noise levels that have been measured on the Mir and previous space stations, while above engineering standards, are not at levels usually associated with hearing loss in ground-based studies (which have usually been limited to 8-10 h exposure periods). Attempts to measure hearing in space using threshold-based audiograms have been unsuccessful in both the American and Russian programs due to noise interference with the measurements. CONCLUSIONS: The existing data highlight the need for reliable monitoring of both hearing and noise in long-duration spaceflight.

  11. [Neonatal hearing screening].

    PubMed

    Oudesluys-Murphy, A M; van Straaten, H L; Ens-Dokkum, M H; Kauffman-de Boer, M A

    2000-03-25

    Approximately 1 to 2 per thousand live-born infants suffer from a serious perceptive hearing loss. Normal hearing from birth is essential for optimal human development (language and speech, social and emotional development, communicative skills and learning). The earlier the hearing loss is diagnosed the better the prognosis for the infant with a hearing impairment. Suitable methods are now available for neonatal hearing screening: automated measurement of auditory brain stem response and measurement of oto-acoustic emissions. Screening must be viewed as only the first step in a program of diagnosis, treatment and habilitation of these children. The ultimate goal of the implementation of neonatal hearing screening is: identification of bilateral hearing losses before the age of 3 months and start of therapy and counselling before the age of 6 months.

  12. Research on Hearing and Balance--Current and Future Developments.

    ERIC Educational Resources Information Center

    Snow, James B., Jr.

    1997-01-01

    This article reviews current research that has located disease genes causing hearing impairments, discovered the ability of sensory cells of the inner ear to regenerate, developed vaccines to prevent otitis media, developed programmable hearing aids, improved cochlear implants, and demonstrated the positive effects of physical therapy with balance…

  13. ACEMg supplementation ameliorates progressive Connexin 26 hearing loss in a child.

    PubMed

    Thatcher, Aaron; Le Prell, Colleen; Miller, Josef; Green, Glenn

    2014-03-01

    Mutations in the gene encoding Connexin 26 are the most common cause of genetic hearing loss. The hearing loss is typically stable but may be progressive. The reason for progression is unknown. Antioxidants have been associated with attenuation of hearing loss from other insults. One antioxidant regimen consists of beta-carotene (metabolized to vitamin A), vitamin C, vitamin E, and magnesium (ACEMg). We present a child with Connexin 26 related hearing loss who experienced progressive hearing loss over 7 years of observation. He was given ACEMg daily for 3 years, during which time his progressive hearing loss was ameliorated.

  14. 42 CFR 405.720 - Hearing; right to hearing.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 2 2011-10-01 2011-10-01 false Hearing; right to hearing. 405.720 Section 405.720 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE... Part A § 405.720 Hearing; right to hearing. A person has a right to a hearing regarding any...

  15. Hearing Loss in Children: Types of Hearing Loss

    MedlinePlus

    ... the ear to the brain so that our brain pathways are part of our hearing. There are four types of hearing loss: Conductive Hearing Loss Hearing loss caused by something that stops sounds from getting through the outer or middle ear. This type of hearing loss can often ...

  16. 12 CFR 1209.12 - Public hearings; closed hearings.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 12 Banks and Banking 10 2014-01-01 2014-01-01 false Public hearings; closed hearings. 1209.12... PRACTICE AND PROCEDURE Rules of Practice and Procedure § 1209.12 Public hearings; closed hearings. (a... hearings shall be open to the public, except that the Director, in his discretion, may determine...

  17. 12 CFR 1209.12 - Public hearings; closed hearings.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 12 Banks and Banking 9 2012-01-01 2012-01-01 false Public hearings; closed hearings. 1209.12... PRACTICE AND PROCEDURE Rules of Practice and Procedure § 1209.12 Public hearings; closed hearings. (a... hearings shall be open to the public, except that the Director, in his discretion, may determine...

  18. Genetics of Nonsyndromic Congenital Hearing Loss.

    PubMed

    Egilmez, Oguz Kadir; Kalcioglu, M Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  19. Music and Hearing Aids

    PubMed Central

    Moore, Brian C. J.

    2014-01-01

    The signal processing and fitting methods used for hearing aids have mainly been designed to optimize the intelligibility of speech. Little attention has been paid to the effectiveness of hearing aids for listening to music. Perhaps as a consequence, many hearing-aid users complain that they are not satisfied with their hearing aids when listening to music. This issue inspired the Internet-based survey presented here. The survey was designed to identify the nature and prevalence of problems associated with listening to live and reproduced music with hearing aids. Responses from 523 hearing-aid users to 21 multiple-choice questions are presented and analyzed, and the relationships between responses to questions regarding music and questions concerned with information about the respondents, their hearing aids, and their hearing loss are described. Large proportions of the respondents reported that they found their hearing aids to be helpful for listening to both live and reproduced music, although less so for the former. The survey also identified problems such as distortion, acoustic feedback, insufficient or excessive gain, unbalanced frequency response, and reduced tone quality. The results indicate that the enjoyment of listening to music with hearing aids could be improved by an increase of the input and output dynamic range, extension of the low-frequency response, and improvement of feedback cancellation and automatic gain control systems. PMID:25361601

  20. Music and hearing aids.

    PubMed

    Madsen, Sara M K; Moore, Brian C J

    2014-10-31

    The signal processing and fitting methods used for hearing aids have mainly been designed to optimize the intelligibility of speech. Little attention has been paid to the effectiveness of hearing aids for listening to music. Perhaps as a consequence, many hearing-aid users complain that they are not satisfied with their hearing aids when listening to music. This issue inspired the Internet-based survey presented here. The survey was designed to identify the nature and prevalence of problems associated with listening to live and reproduced music with hearing aids. Responses from 523 hearing-aid users to 21 multiple-choice questions are presented and analyzed, and the relationships between responses to questions regarding music and questions concerned with information about the respondents, their hearing aids, and their hearing loss are described. Large proportions of the respondents reported that they found their hearing aids to be helpful for listening to both live and reproduced music, although less so for the former. The survey also identified problems such as distortion, acoustic feedback, insufficient or excessive gain, unbalanced frequency response, and reduced tone quality. The results indicate that the enjoyment of listening to music with hearing aids could be improved by an increase of the input and output dynamic range, extension of the low-frequency response, and improvement of feedback cancellation and automatic gain control systems.

  1. Music and hearing aids.

    PubMed

    Madsen, Sara M K; Moore, Brian C J

    2014-01-01

    The signal processing and fitting methods used for hearing aids have mainly been designed to optimize the intelligibility of speech. Little attention has been paid to the effectiveness of hearing aids for listening to music. Perhaps as a consequence, many hearing-aid users complain that they are not satisfied with their hearing aids when listening to music. This issue inspired the Internet-based survey presented here. The survey was designed to identify the nature and prevalence of problems associated with listening to live and reproduced music with hearing aids. Responses from 523 hearing-aid users to 21 multiple-choice questions are presented and analyzed, and the relationships between responses to questions regarding music and questions concerned with information about the respondents, their hearing aids, and their hearing loss are described. Large proportions of the respondents reported that they found their hearing aids to be helpful for listening to both live and reproduced music, although less so for the former. The survey also identified problems such as distortion, acoustic feedback, insufficient or excessive gain, unbalanced frequency response, and reduced tone quality. The results indicate that the enjoyment of listening to music with hearing aids could be improved by an increase of the input and output dynamic range, extension of the low-frequency response, and improvement of feedback cancellation and automatic gain control systems. PMID:25361601

  2. Do You Hear What Horton Hears?

    ERIC Educational Resources Information Center

    Snyder, Robert; Johnson, Jordan

    2010-01-01

    "I've never heard of a small speck of dust that is able to yell" says Horton of a sound he hears well (Geisel 1954). It is always valuable to connect science to student's interests and their everyday world--so what better way to teach concepts relating to sound than to read "Horton Hears a Who" by Dr. Seuss? Here the authors present several…

  3. New treatment options for hearing loss.

    PubMed

    Müller, Ulrich; Barr-Gillespie, Peter G

    2015-05-01

    Hearing loss is the most common form of sensory impairment in humans and affects more than 40 million people in the United States alone. No drug-based therapy has been approved by the Food and Drug Administration, and treatment mostly relies on devices such as hearing aids and cochlear implants. Over recent years, more than 100 genetic loci have been linked to hearing loss and many of the affected genes have been identified. This understanding of the genetic pathways that regulate auditory function has revealed new targets for pharmacological treatment of the disease. Moreover, approaches that are based on stem cells and gene therapy, which may have the potential to restore or maintain auditory function, are beginning to emerge. PMID:25792261

  4. Use of Hearing Aids by Adults with Hearing Loss

    MedlinePlus

    ... Epidemiology Use of Hearing Aids by Adults with Hearing Loss [text version] Note: Higher numbers are better. *This ... 2010 and 2020. The number of persons with hearing loss is calculated based on National Health and Nutrition ...

  5. [Inner Ear Hearing Loss].

    PubMed

    Hesse, G

    2016-06-01

    Hearing loss is one of the most dominant handicaps in modern societies, which additionally very often is not realized or not admitted. About one quarter of the general population suffers from inner ear hearing loss and is therefore restricted in communicational skills. Demographic factors like increasing age play an important role as well as environmental influences and an increasing sound and noise exposure especially in leisure activities. Thus borders between a "classical" presbyacusis - if it ever existed - and envirionmentally induced hearing loss disappear. Today restrictions in hearing ability develop earlier in age but at the same time they are detected and diagnosed earlier. This paper can eventually enlighten the wide field of inner ear hearing loss only fragmentarily; therefore mainly new research, findings and developments are reviewed. The first part discusses new aspects of diagnostics of inner ear hearing loss and different etiologies. PMID:27259171

  6. Universal newborn hearing screening.

    PubMed

    Declau, F; Doyen, A; Robillard, T; de Varebeke, S Janssens

    2005-01-01

    Hearing loss is one of the most common congenital anomalies, occurring in approximately 1-2 infants per 1000. Left undetected, hearing impairments in infants can negatively impact speech and language acquisition, academic achievement, social and emotional development. These negative impacts can be diminished and even eliminated through early intervention at or before 6 months of age. Reliable screening tests that minimize referral rates and maximize sensitivity and specificity are available. The goal of universal neonatal hearing screening is to maximize linguistic and communicative competence and literacy development for children who are hard of hearing or deaf. Audiologic and medical evaluations should be in progress before 3 months of age. Infants with confirmed hearing loss should receive intervention before 6 months of age from health care and education professionals with expertise in hearing loss and deafness in infants and young children. PMID:16363265

  7. Age-Related Hearing Loss

    MedlinePlus

    ... hearing loss. Here are the most common ones: Styles of hearing aids Source: NIH/NIDCD Hearing aids ... list of organizations, contact: NIDCD Information Clearinghouse 1 Communication Avenue Bethesda, MD 20892-3456 Toll-free Voice: ( ...

  8. Hearing or speech impairment - resources

    MedlinePlus

    Resources - hearing or speech impairment ... The following organizations are good resources for information on hearing impairment or speech impairment: Alexander Graham Bell Association for the Deaf and Hard of Hearing -- www.agbell. ...

  9. Hearing protection for miners

    SciTech Connect

    Schulz, T.

    2008-10-15

    A NIOSH analysis showed that at age 50 approximately 90% of coal miners have a hearing impairment, yet noise included hearing loss is 100% preventable. The article discusses requirements of the MSHA regulations, 30 CFR Part 62 - occupational noise exposure (2000) and a 2008-MSHA document describing technologically achievable and promising controls for several types of mining machinery. Hearing protection is still required for exposure to greater than 90 dBA. These are now commercially available ways to determine how much attenuation an individual gets from a given hearing protector, known as 'fit testing'. 3 refs., 1 fig., 1 tab., 1 photo.

  10. Physical principles of hearing

    NASA Astrophysics Data System (ADS)

    Martin, Pascal

    2015-10-01

    The following sections are included: * Psychophysical properties of hearing * The cochlear amplifier * Mechanosensory hair cells * The "critical" oscillator as a general principle of auditory detection * Bibliography

  11. SOX10 mutations mimic isolated hearing loss.

    PubMed

    Pingault, V; Faubert, E; Baral, V; Gherbi, S; Loundon, N; Couloigner, V; Denoyelle, F; Noël-Pétroff, N; Ducou Le Pointe, H; Elmaleh-Bergès, M; Bondurand, N; Marlin, S

    2015-10-01

    Ninety genes have been identified to date that are involved in non-syndromic hearing loss, and more than 300 different forms of syndromic hearing impairment have been described. Mutations in SOX10, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. In addition, rare mutations have been identified in patients with isolated signs of these diseases. We used the recent characterization of temporal bone imaging aspects in patients with SOX10 mutations to identify possible patients with isolated hearing loss due to SOX10 mutation. We selected 21 patients with isolated deafness and temporal bone morphological defects for mutational screening. We identified two SOX10 mutations and found that both resulted in a non-functional protein in vitro. Re-evaluation of the two affected patients showed that both had previously undiagnosed olfactory defects. Diagnosis of anosmia or hyposmia in young children is challenging, and particularly in the absence of magnetic resonance imaging (MRI), SOX10 mutations can mimic non-syndromic hearing impairment. MRI should complete temporal bones computed tomographic scan in the management of congenital deafness as it can detect brain anomalies, cochlear nerve defects, and olfactory bulb malformation in addition to inner ear malformations.

  12. Underwater hearing: A review

    NASA Astrophysics Data System (ADS)

    Al-Masri, M.; Martin, A.; Nedwell, J.

    1993-05-01

    In view of the prevalence of hearing loss among commercial divers and the absence of widely accepted noise exposure limits for occupational underwater use, a review of studies of underwater hearing thresholds and hearing mechanisms was undertaken with the ultimate aim of developing noise exposure limits. Previous studies of underwater hearing thresholds appear to show that the ear underwater is less sensitive than compared with air. However, a surprisingly wide range of values for underwater hearing thresholds was reported, for example 35-90 dB SPL(re 20 MuPa) at 0.25 kHz and 30-80 dB at 1 kHz. No representative single threshold curve can be extracted with any validity. Possible reasons for such a wide scatter of results include high underwater ambient noise levels which may have masked the subjects underwater hearing thresholds, ill defined stimuli and underwater sound fields, and variable and informal audiometric methodology. Previous authors have proposed three somewhat interlinked theories to explain how sound is transmitted from water to the cochlea. These involve: the 'auricular' conduction pathway, the bone conduction pathway, and the dual conduction pathway. Up to this day, no one pathway has been shown to predominate, and all of them have been poorly evaluated. It is also possible that the presence of air bubbles in the ear canal and increased water depth may have significant effects on underwater hearing thresholds. These effects may be dependent on the underwater hearing mechanism. Again, the studies reviewed give conflicting results and no valid conclusion can be drawn. It is apparent that further experimental studies are required to establish underwater hearing thresholds and to provide an understanding of the mechanisms of hearing underwater. These should be based upon suitable facilities and methodologies for testing hearing thresholds underwater following modern and scientific audio metric practice.

  13. Genetics of hearing and deafness.

    PubMed

    Angeli, Simon; Lin, Xi; Liu, Xue Zhong

    2012-11-01

    This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ∼ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today's clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention.

  14. Genetics of Hearing and Deafness

    PubMed Central

    ANGELI, SIMON; LIN, XI; LIU, XUE ZHONG

    2015-01-01

    This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ~ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today’s clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention. PMID:23044516

  15. Pseudo-immortalization of postnatal cochlear progenitor cells yields a scalable cell line capable of transcriptionally regulating mature hair cell genes.

    PubMed

    Walters, Brandon J; Diao, Shiyong; Zheng, Fei; Walters, Bradley J; Layman, Wanda S; Zuo, Jian

    2015-12-07

    The mammalian cochlea is a highly specialized organ within the inner ear. Sensory hair cells (HC) in the cochlea detect and transduce sound waves into electrical impulses that are sent to the brain. Studies of the molecular pathways regulating HC formation are hindered by the very sparse nature of HCs, where only ~3300 are found within an entire mouse cochlea. Current cell lines mimic certain aspects of HCs but lack terminal HC marker expression. Here we successfully "pseudo-immortalized" cochlear progenitor cells using the "conditional reprogramming" technique. These cells, termed "Conditionally Reprogrammed Otic Stem Cells" (CR-OSC), are able to bypass the senescence inherent to cochlear progenitor cells without genetic alterations, allowing for the generation of over 15 million cells from a single cochlea. These cells can be differentiated and up-regulate both early and terminal differentiation genes associated with HCs, including the terminal HC differentiation marker prestin. CR-OSCs also respond to known HC cues, including upregulation of HC genes in response to Atoh1 overexpression, and upregulation of prestin expression after thyroid hormone application. Overall, we describe the creation of a HC line capable of regulated expression of HC genes that can easily be recreated in any laboratory from any mouse of interest.

  16. Pseudo-immortalization of postnatal cochlear progenitor cells yields a scalable cell line capable of transcriptionally regulating mature hair cell genes

    PubMed Central

    Walters, Brandon J.; Diao, Shiyong; Zheng, Fei; Walters, Bradley J.; Layman, Wanda S.; Zuo, Jian

    2015-01-01

    The mammalian cochlea is a highly specialized organ within the inner ear. Sensory hair cells (HC) in the cochlea detect and transduce sound waves into electrical impulses that are sent to the brain. Studies of the molecular pathways regulating HC formation are hindered by the very sparse nature of HCs, where only ~3300 are found within an entire mouse cochlea. Current cell lines mimic certain aspects of HCs but lack terminal HC marker expression. Here we successfully “pseudo-immortalized” cochlear progenitor cells using the “conditional reprogramming” technique. These cells, termed “Conditionally Reprogrammed Otic Stem Cells” (CR-OSC), are able to bypass the senescence inherent to cochlear progenitor cells without genetic alterations, allowing for the generation of over 15 million cells from a single cochlea. These cells can be differentiated and up-regulate both early and terminal differentiation genes associated with HCs, including the terminal HC differentiation marker prestin. CR-OSCs also respond to known HC cues, including upregulation of HC genes in response to Atoh1 overexpression, and upregulation of prestin expression after thyroid hormone application. Overall, we describe the creation of a HC line capable of regulated expression of HC genes that can easily be recreated in any laboratory from any mouse of interest. PMID:26639154

  17. Hearing sensitivity in farmers.

    PubMed Central

    Karlovich, R S; Wiley, T L; Tweed, T; Jensen, D V

    1988-01-01

    Hearing sensitivity was measured for tones from 1,000 through 8,000 hertz (Hz) in 534 males and 278 females who resided in rural Wisconsin and ranged in age from 16 to 85 years. The hearing sensitivity for all subjects decreased with advancing age and at higher frequencies, but hearing loss over the range most susceptible to excessive noise exposure (3,000-6,000 Hz) was much greater for males than for females at all ages. The hearing loss was greater than could be accounted for by age and was similar whether the subject was a farmer or not. The results suggested that approximately 25 percent of the males had a communication handicap due to hearing loss by age 30, and the proportion rose to 50 percent by age 50. Less than 20 percent of farmers reported consistent use of personal hearing protection in their farm-related duties. Overall, the findings suggest that men who live in rural areas, including farmers, demonstrate a high prevalence of hearing loss and associated communication problems due to excessive noise exposure. This, in turn, clearly indicates a need for intensification of educational hearing conservation programs for the rural population. PMID:3124200

  18. Hearing loss and music

    MedlinePlus

    Noise induced hearing loss - music; Sensory hearing loss - music ... talking is 40 dB to 60 dB. A rock concert is between 110 dB and 120 ... when listening to music depends on: How loud the music is How ...

  19. School Hearing Test Program.

    ERIC Educational Resources Information Center

    Environmental Protection Agency, Washington, DC. Office of Noise Abatement and Control.

    The document offers guidelines for administration of the Hearing Test Noise Education Program, a program to teach students the harmful effects of excessive moise on their hearing and learning ability. Section 1 outlines the program strategy in terms of program initiation, suggested program coordination, suggested coordinator's responsibilities,…

  20. The Hearing Environment

    ERIC Educational Resources Information Center

    Capewell, Carmel

    2014-01-01

    Glue ear, a condition resulting in intermittent hearing loss in young children, affects about 80% of young children under seven years old. About 60% of children will spend a third of their time unable to hear within normal thresholds. Teachers are unlikely to consider the sound quality in classrooms. In my research young people provided…

  1. Hearing Loss and Cytomegalovirus.

    ERIC Educational Resources Information Center

    Strauss, Melvin

    1997-01-01

    Cytomegalovirus is the most common cause of congenital virally induced hearing loss. Maternal infection is most often asymptomatic as is the infection in the newborn. Hearing loss occurs in both clinically apparent infection and in the asymptomatic infection. Current methods of detection, treatment, and prevention and research efforts are…

  2. [Presbycusis - Age Related Hearing Loss].

    PubMed

    Fischer, N; Weber, B; Riechelmann, H

    2016-07-01

    Presbycusis or age related hearing loss can be defined as a progressive, bilateral and symmetrical sensorineural hearing loss due to age related degeneration of inner ear structures. It can be considered a multifactorial complex disorder with environmental and genetic factors. The molecular, electrophysiological and histological damage at different levels of the inner ear cause a progressive hearing loss, which usually affects the high frequencies of hearing. The resulting poor speech recognition has a negative impact on cognitive, emotional and social function in older adults. Recent investigations revealed an association between hearing impairment and social isolation, anxiety, depression and cognitive decline in elderly. These findings emphasize the importance of diagnosis and treating hearing loss in the elderly population. Hearing aids are the most commonly used devices for treating presbycusis. The technical progress of implantable hearing devices allows an effective hearing rehabilitation even in elderly with severe hearing loss. However, most people with hearing impairments are not treated adequately. PMID:27392191

  3. Hearing Aid Tester

    NASA Technical Reports Server (NTRS)

    1978-01-01

    Hearing aids often develop malfunctions that are not detected by the wearer. This is particularly true when the wearers are school-age children. Studies of selected groups showed that from 30 to more than 50 percent of school children were not getting adequate benefit from their hearing aids because of unrecognized malfunctions, usually low or dead batteries. This can be serious because hearing impairment retards a child's educational progress. NASA technology incorporated in the Hearing Aid Malfunction Detection Unit (HAMDU), the device pictured, is expected to provide an effective countermeasure to the childrens' hearing aid problem. A patent license has been awarded to a minority-owned firm, Hopkins International Company, a subsidiary of H. H. Aerospace Design Co., Inc., Elmford, New York. The company plans early commercial availability of its version of the device.

  4. [Hearing impairment and dementia].

    PubMed

    Kilimann, I; Óvari, A; Hermann, A; Witt, G; Pau, H W; Teipel, S

    2015-07-01

    The World Health Organization (WHO) burden of disease study identified dementia and hearing problems as leading causes of loss of quality of life in the industrial world. The prevalence of dementia and hearing problems increases in aging societies. Comorbidity of these two diseases causes increasing demands on healthcare systems. The similarity and possible interaction of symptoms renders diagnosis and therapy of dementia and hearing loss a challenge for neurologists, psychiatrists, ear, nose and throat (ENT) and hearing specialists. Knowledge of both diseases enables an early intervention and helps preserve participation in society and thereby reducing the risk of developing dementia. This paper focuses on the characteristics of the diagnosis and therapy of hearing problems and dementia.

  5. Individual Hearing Loss

    PubMed Central

    Dau, Torsten; Christensen-Dalsgaard, Jakob; Tranebjærg, Lisbeth; Andersen, Ture; Poulsen, Torben

    2016-01-01

    It is well-established that hearing loss does not only lead to a reduction of hearing sensitivity. Large individual differences are typically observed among listeners with hearing impairment in a wide range of suprathreshold auditory measures. In many cases, audiometric thresholds cannot fully account for such individual differences, which make it challenging to find adequate compensation strategies in hearing devices. How to characterize, model, and compensate for individual hearing loss were the main topics of the fifth International Symposium on Auditory and Audiological Research (ISAAR), held in Nyborg, Denmark, in August 2015. The following collection of papers results from some of the work that was presented and discussed at the symposium. PMID:27566802

  6. Sudden Sensorineural Hearing Loss

    PubMed Central

    Kuhn, Maggie; Heman-Ackah, Selena E.; Shaikh, Jamil A.

    2011-01-01

    Sudden sensorineural hearing loss (SSNHL) is commonly encountered in audiologic and otolaryngologic practice. SSNHL is most commonly defined as sensorineural hearing loss of 30dB or greater over at least three contiguous audiometric frequencies occurring within a 72-hr period. Although the differential for SSNHL is vast, for the majority of patients an etiologic factor is not identified. Treatment for SSNHL of known etiology is directed toward that agent, with poor hearing outcomes characteristic for discoverable etiologies that cause inner ear hair cell loss. Steroid therapy is the current mainstay of treatment of idiopathic SSNHL in the United States. The prognosis for hearing recovery for idiopathic SSNHL is dependent on a number of factors including the severity of hearing loss, age, presence of vertigo, and shape of the audiogram. PMID:21606048

  7. Hearing impairment in Stickler syndrome: a systematic review

    PubMed Central

    2012-01-01

    Background Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype. Methods English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation. Results 313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). Conclusions Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired. PMID:23110709

  8. Hearing Aids and Hearing Impaired Students in Rural Schools.

    ERIC Educational Resources Information Center

    Woodford, Charles

    This paper describes functions of the components of hearing aids and provides a detailed procedure to detect hearing aid dysfunctions. The most common type of hearing aids for school children are the behind the ear type. Various hearing aid components change sound into an electrical signal, which is amplified and adjusted by a volume control. The…

  9. Mutational analysis of the mitochondrial 12S rRNA and tRNA{sup Ser(UCN)} genes in Tunisian patients with nonsyndromic hearing loss

    SciTech Connect

    Mkaouar-Rebai, Emna . E-mail: emna_mkaouar@mail2world.com; Tlili, Abdelaziz; Masmoudi, Saber; Louhichi, Nacim; Charfeddine, Ilhem; Amor, Mohamed Ben; Lahmar, Imed; Driss, Nabil; Drira, Mohamed; Ayadi, Hammadi; Fakhfakh, Faiza

    2006-02-24

    We explored the mitochondrial 12S rRNA and the tRNA{sup Ser(UCN)} genes in 100 Tunisian families affected with NSHL and in 100 control individuals. We identified the mitochondrial A1555G mutation in one out of these 100 families and not in the 100 control individuals. Members of this family harbouring the A1555G mutation showed phenotypic heterogeneity which could be explained by an eventual nuclear-mitochondrial interaction. So, we have screened three nuclear genes: GJB2, GJB3, and GJB6 but we have not found correlation between the phenotypic heterogeneity and variants detected in these genes. We explored also the entire mitochondrial 12S rRNA and the tRNA{sup Ser(UCN)} genes. We detected five novel polymorphisms: T742C, T794A, A813G, C868T, and C954T, and 12 known polymorphisms in the mitochondrial 12S rRNA gene. None of the 100 families or the 100 controls were found to carry mutations in the tRNA{sup Ser(UCN)} gene. We report here First mutational screening of the mitochondrial 12S rRNA and the tRNA{sup Ser(UCN)} genes in the Tunisian population which describes the second family harbouring the A1555G mutation in Africa and reveals novel polymorphisms in the mitochondrial 12S rRNA gene.

  10. Hearing loss in older adults.

    PubMed

    Walling, Anne D; Dickson, Gretchen M

    2012-06-15

    Hearing loss affects approximately one-third of adults 61 to 70 years of age and more than 80 percent of those older than 85 years. Men usually experience greater hearing loss and have earlier onset compared with women. The most common type is age-related hearing loss; however, many conditions can interfere with the conduction of sound vibrations to the inner ear and their conversion to electrical impulses for conduction to the brain. Screening for hearing loss is recommended in adults older than 50 to 60 years. Office screening tests include the whispered voice test and audioscopy. Older patients who admit to having difficulty hearing may be referred directly for audiometry. The history can identify risk factors for hearing loss, especially noise exposure and use of ototoxic medications. Examination of the auditory canal and tympanic membrane can identify causes of conductive hearing loss. Audiometric testing is required to confirm hearing loss. Adults presenting with idiopathic sudden sensorineural hearing loss should be referred for urgent assessment. Management of hearing loss is based on addressing underlying causes, especially obstructions (including cerumen) and ototoxic medications. Residual hearing should be optimized by use of hearing aids, assistive listening devices, and rehabilitation programs. Surgical implants are indicated for selected patients. Major barriers to improved hearing in older adults include lack of recognition of hearing loss; perception that hearing loss is a normal part of aging or is not amenable to treatment; and patient nonadherence with hearing aids because of stigma, cost, inconvenience, disappointing initial results, or other factors.

  11. Noise and Hearing Loss Prevention

    MedlinePlus

    ... SafeInSound Noise and Hearing Loss on the NIOSH Science Blog Smartphone Sound Apps Music-induced Hearing Loss ... SafeInSound Noise and Hearing Loss on the NIOSH Science Blog Smartphone Sound Apps Music-induced Hearing Loss ...

  12. Can You Hear Me Now?

    ERIC Educational Resources Information Center

    Black, Susan

    2003-01-01

    Almost 15 percent of children from 6 to 19 years old have some degree of hearing loss in one or both ears. Offers guidelines for screening students' hearing and recommends that interventions begin with classroom acoustics, which affect all children including those with normal hearing. Includes strategies for accommodating hearing-impaired…

  13. Hearing in Cavefishes.

    PubMed

    Soares, Daphne; Niemiller, Matthew L; Higgs, Dennis M

    2016-01-01

    Caves and associated subterranean habitats represent some of the harshest environments on Earth, yet many organisms, including fishes, have colonized and thrive in these habitats despite the complete absence of light, and other abiotic and biotic constraints. Over 170 species of fishes are considered obligate subterranean inhabitants (stygobionts) that exhibit some degree of troglomorphy, including degeneration of eyes and reduction in pigmentation. To compensate for lack of vision, many species have evolved constructive changes to non-visual sensory modalities. In this chapter we review hearing in cavefishes, with particular emphasize on our own studies on amblyopsid cavefishes. Hearing in cavefishes has not been well studied to date, as hearing ability has only been examined in four species. Two species show no differences in hearing ability relative to their surface relatives, while the other two species (family Amblyopsidae) exhibit regression in the form of reduced hearing range and reduction in hair cell densities on sensory epithelia. In addition to reviewing our current knowledge on cavefish hearing, we offer suggestions for future avenues of research on cavefish hearing and discuss the influence of Popper and Fay on the field of cavefish bioacoustics.

  14. Hearing in Cavefishes.

    PubMed

    Soares, Daphne; Niemiller, Matthew L; Higgs, Dennis M

    2016-01-01

    Caves and associated subterranean habitats represent some of the harshest environments on Earth, yet many organisms, including fishes, have colonized and thrive in these habitats despite the complete absence of light, and other abiotic and biotic constraints. Over 170 species of fishes are considered obligate subterranean inhabitants (stygobionts) that exhibit some degree of troglomorphy, including degeneration of eyes and reduction in pigmentation. To compensate for lack of vision, many species have evolved constructive changes to non-visual sensory modalities. In this chapter we review hearing in cavefishes, with particular emphasize on our own studies on amblyopsid cavefishes. Hearing in cavefishes has not been well studied to date, as hearing ability has only been examined in four species. Two species show no differences in hearing ability relative to their surface relatives, while the other two species (family Amblyopsidae) exhibit regression in the form of reduced hearing range and reduction in hair cell densities on sensory epithelia. In addition to reviewing our current knowledge on cavefish hearing, we offer suggestions for future avenues of research on cavefish hearing and discuss the influence of Popper and Fay on the field of cavefish bioacoustics. PMID:26515315

  15. Restoration of hearing by hearing aids: conventional hearing aids – implantable hearing aids – cochlear implants – auditory brainstem implants

    PubMed Central

    Leuwer, R.; Müller, J.

    2005-01-01

    Aim of this report is to explain the current concept of hearing restoration using hearing aids. At present the main issues of conventional hearing aids are the relative benefits of analogue versus digital devices and different strategies for the improvement of hearing in noise. Implantable hearing aids provide a better sound quality and less distortion. The lack of directional microphones is the major disadvantage of the partially implantable hearing aids commercially available. Two different clinical studies about fully implantable hearing aids have been started in 2004. One of the most-promising developments seems to be the electric-acoustic stimulation. PMID:22073051

  16. Sudden sensorineural hearing loss.

    PubMed

    Stew, B T; Fishpool, S J C; Williams, H

    2012-02-01

    Sudden onset sensorineural hearing loss is a medical emergency that continues to be poorly understood despite being recognized in the literature since 1944 (De Kleyn, 1944). A commonly used criterion to qualify for this diagnosis is a sensorineural hearing loss over three contiguous pure-tone frequencies of 30 dB or more that develops within 72 hours. The vast majority of cases are unilateral and the estimated annual incidence is 20 per 100 000 persons (Nosrati-Zarenoe et al, 2007). A cause for the hearing loss is only identified in up to 10% of cases but 50% of patients will improve spontaneously (Penido et al, 2009).

  17. Micromechanics of hearing

    NASA Astrophysics Data System (ADS)

    Hudspeth, A. J.

    2015-12-01

    The following summarizes the key points addressed during a tutorial session on the Micromechanics of Hearing that took place at the 12th International Workshop on the Mechanics of Hearing held at Cape Sounio, Greece, in June 2014. The tutorial was intended to present an overview of basic ideas and to address topics of current interest relevant to the Workshop. The session was recorded, and the audio file and accompanying visual content of the presentation can be found in the Mechanics of Hearing Digital Library (www.mechanicsofhearing.org).

  18. Apps for hearing healthcare.

    PubMed

    Paglialonga, Alessia; Tognola, Gabriella; Pinciroli, Francesco

    2015-01-01

    The hearing healthcare scenario is rapidly evolving due to the pervasive use of m-Health solutions, in particular mobile apps. This brings along significant advantages and opportunities (e.g., accessibility, affordability, personalized healthcare, patient empowerment) as well as significant potential risks and threats (e.g., safety, misuse, quality issues, privacy). Our research aims at the identification and assessment of apps in the hearing healthcare domain. In this article we present an overview of the current availability, variety, and penetration of hearing-related apps.

  19. Sudden sensorineural hearing loss.

    PubMed

    Stew, B T; Fishpool, S J C; Williams, H

    2012-02-01

    Sudden onset sensorineural hearing loss is a medical emergency that continues to be poorly understood despite being recognized in the literature since 1944 (De Kleyn, 1944). A commonly used criterion to qualify for this diagnosis is a sensorineural hearing loss over three contiguous pure-tone frequencies of 30 dB or more that develops within 72 hours. The vast majority of cases are unilateral and the estimated annual incidence is 20 per 100 000 persons (Nosrati-Zarenoe et al, 2007). A cause for the hearing loss is only identified in up to 10% of cases but 50% of patients will improve spontaneously (Penido et al, 2009). PMID:22504750

  20. Screening of Connexin 26 in Nonsyndromic Hearing Loss

    PubMed Central

    Moreira, Danielle; Silva, Daniela da; Lopez, Priscila; Mantovani, Jair Cortez

    2014-01-01

    Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sensorineural hearing loss and their first degree relatives. Methods This transversal study included 72 patients from the local hospital. The patients were divided into three groups: group A, sensorineural hearing loss (n = 58); group B, first-degree relatives of group A with sensorineural hearing loss (n = 09); and group C, first-degree relatives of patients from group A without hearing loss (n = 05). All patients had audiological evaluation and genetic testing of the 35delG mutation. Results The 35delG mutation was found in four heterozygous mutations (three of them found in the same family). The other heterozygous mutation was found in a female patient with bilateral, moderate, prelingual, sensorineural hearing loss. A single homozygous mutation was found in a male patient, with severe sensorineural hearing loss in his right ear and profound hearing loss in the left ear. Conclusions The 35delG mutation was found in 7% of the cases. The test is easy to perform and inexpensive, but it is necessary to investigate other genes related to hearing loss. PMID:25992148

  1. The application of genome editing in studying hearing loss.

    PubMed

    Zou, Bing; Mittal, Rahul; Grati, M'hamed; Lu, Zhongmin; Shu, Yilai; Tao, Yong; Feng, Youg; Xie, Dinghua; Kong, Weijia; Yang, Shiming; Chen, Zheng-Yi; Liu, Xuezhong

    2015-09-01

    Targeted genome editing mediated by clustered, regularly interspaced, short palindromic repeat (CRISPR)/CRISPR-associated nuclease 9 (Cas9) technology has emerged as one of the most powerful tools to study gene functions, and with potential to treat genetic disorders. Hearing loss is one of the most common sensory disorders, affecting approximately 1 in 500 newborns with no treatment. Mutations of inner ear genes contribute to the largest portion of genetic deafness. The simplicity and robustness of CRISPR/Cas9-directed genome editing in human cells and model organisms such as zebrafish, mice and primates make it a promising technology in hearing research. With CRISPR/Cas9 technology, functions of inner ear genes can be studied efficiently by the disruption of normal gene alleles through non-homologous-end-joining (NHEJ) mechanism. For genetic hearing loss, CRISPR/Cas9 has potential to repair gene mutations by homology-directed-repair (HDR) or to disrupt dominant mutations by NHEJ, which could restore hearing. Our recent work has shown CRISPR/Cas9-mediated genome editing can be efficiently performed in the mammalian inner ear in vivo. Thus, application of CRISPR/Cas9 in hearing research will open up new avenues for understanding the pathology of genetic hearing loss and provide new routes in the development of treatment to restore hearing. In this review, we describe major methodologies currently used for genome editing. We will highlight applications of these technologies in studies of genetic disorders and discuss issues pertaining to applications of CRISPR/Cas9 in auditory systems implicated in genetic hearing loss.

  2. Occupational hearing loss

    MedlinePlus

    Over time, repeated exposure to loud noise and music can cause hearing loss. Sounds above 80 decibels ( ... Airline ground maintenance Construction Farming Jobs involving loud music or machinery Military jobs that involve combat, aircraft ...

  3. Implantable digital hearing aid

    NASA Technical Reports Server (NTRS)

    Kissiah, A. M., Jr.

    1979-01-01

    Hearing aid converts analog output of microphone into digital pulses in about 10 channels of audiofrequencies. Each pulse band could be directly connected to portion of auditory nerve most sensitive to that range.

  4. Types of Hearing Aids

    MedlinePlus

    ... They also have greater flexibility in hearing aid programming so that the sound they transmit can be ... 10903 New Hampshire Avenue Silver Spring, MD 20993 1-888-INFO-FDA (1-888-463-6332) Contact ...

  5. Diagnosis of Hearing Loss.

    ERIC Educational Resources Information Center

    World Federation of the Deaf, Rome (Italy).

    Seven conference papers from the U.S.S.R., India, Poland, Czechoslovakia, and Yugoslavia consider the diagnosis of hearing loss. They are "Examination of Hearing of Children, Aged from 2 to 5, by Means of Playing Audiometry" by A. P. Kossacheva, "A Study of the Etiology and Pattern of Deafness in a School for the Deaf in Madras, South India" by Y.…

  6. Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

    PubMed Central

    2012-01-01

    Background Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been detected using classical genetic methods, typically starting with linkage analysis in large families with hereditary hearing loss. However, these classical strategies are not well suited for mutation analysis in smaller families who have insufficient genetic information. Methods Eighty known hearing loss genes were selected and simultaneously sequenced by targeted next-generation sequencing (NGS) in 8 Korean families with autosomal dominant non-syndromic sensorineural hearing loss. Results Five mutations in known hearing loss genes, including 1 nonsense and 4 missense mutations, were identified in 5 different genes (ACTG1, MYO1F, DIAPH1, POU4F3 and EYA4), and the genotypes for these mutations were consistent with the autosomal dominant inheritance pattern of hearing loss in each family. No mutational hot-spots were revealed in these Korean families. Conclusion Targeted NGS allowed for the detection of pathogenic mutations in affected individuals who were not candidates for classical genetic studies. This report is the first documenting the effective use of an NGS technique to detect pathogenic mutations that underlie hearing loss in an East Asian population. Using this NGS technique to establish a database of common mutations in Korean patients with hearing loss and further data accumulation will contribute to the early diagnosis and fundamental therapies for hereditary hearing loss. PMID:22938506

  7. Hearing Aids and Music

    PubMed Central

    Chasin, Marshall; Russo, Frank A.

    2004-01-01

    Historically, the primary concern for hearing aid design and fitting is optimization for speech inputs. However, increasingly other types of inputs are being investigated and this is certainly the case for music. Whether the hearing aid wearer is a musician or merely someone who likes to listen to music, the electronic and electro-acoustic parameters described can be optimized for music as well as for speech. That is, a hearing aid optimally set for music can be optimally set for speech, even though the converse is not necessarily true. Similarities and differences between speech and music as inputs to a hearing aid are described. Many of these lead to the specification of a set of optimal electro-acoustic characteristics. Parameters such as the peak input-limiting level, compression issues—both compression ratio and knee-points—and number of channels all can deleteriously affect music perception through hearing aids. In other cases, it is not clear how to set other parameters such as noise reduction and feedback control mechanisms. Regardless of the existence of a “music program,” unless the various electro-acoustic parameters are available in a hearing aid, music fidelity will almost always be less than optimal. There are many unanswered questions and hypotheses in this area. Future research by engineers, researchers, clinicians, and musicians will aid in the clarification of these questions and their ultimate solutions. PMID:15497032

  8. VOT and hearing impairment

    NASA Astrophysics Data System (ADS)

    Lane, Harlan; Perkell, Joseph

    2001-05-01

    When deafened adults recover some hearing after receiving a cochlear implant, numerous changes in their speech occur at both phonemic and suprasegmental levels. If a change toward normative values is observed for some phonemic parameter, it may be attributed to the restored hearing; however, it may be a by-product of a suprasegmental change. Consistent with results reported for speakers with normal hearing, Lane et al. [J. Acoust. Soc. Am. 98, 3096-3106 (1995)] observed in implant users that VOT varies approximately linearly with syllable duration. Therefore, in comparing pre- and postimplant measures of VOT in five speakers, each token's VOT was adjusted for the change in syllable duration of that token relative to the mean syllable duration in a baseline session (called VOTc). Preimplant, the deaf speakers characteristically uttered plosives with abnormally short VOTc. With some hearing restored, four of the five lengthened VOTc. Changes in voiced plosives' VOTc with restored hearing were correlated with changes in SPL. Some of the reliable VOTc increases that were not correlated with SPL may have been caused by auditory validation of an internal model for phoneme production. Recent studies of VOT in hearing-impaired speakers will be reviewed in this light. [Work supported by NIDCD, NIH.

  9. Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.

    PubMed

    Carey, John C; Palumbos, Janice C

    2016-10-01

    Hearing loss represents the most common sensory disability of children. Remarkable advances in the identification of genes underlying nonsyndromic and syndromic hearing loss in just the last 2 decades have led to the ability to determine the specific genetic cause of hearing loss in many children. Surprisingly one gene, GJB2, encoding the protein connexin-26, accounts for about 20 % of sensorineural hearing loss (including in India) and is considered the first tier test in evaluating an infant with unexplained congenital hearing loss. Using the knowledge of the etiology of hearing loss, the authors propose a diagnostic reasoning process for the assessment of a child in the pediatric setting. Second tier testing consists of the multiple gene panels using whole exome sequencing strategies, and is becoming available in some regions of the world including the US. Referral to medical genetics is always a consideration in a child with no explanation for the hearing loss and in families with questions about recurrence risk.

  10. Restaurant noise, hearing loss, and hearing aids.

    PubMed Central

    Lebo, C P; Smith, M F; Mosher, E R; Jelonek, S J; Schwind, D R; Decker, K E; Krusemark, H J; Kurz, P L

    1994-01-01

    Our multidisciplinary team obtained noise data in 27 San Francisco Bay Area restaurants. These data included typical minimum, peak, and average sound pressure levels; digital tape recordings; subjective noise ratings; and on-site unaided and aided speech discrimination tests. We report the details and implications of these noise measurements and provide basic information on selecting hearing aids and suggestions for coping with restaurant noise. Images PMID:7941506

  11. 41 CFR 105-57.005 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...-ADMINISTRATION WAGE GARNISHMENT § 105-57.005 Hearing. (a) GSA will provide a hearing, which at the hearing... summary of the facts presented; (2) The hearing official's findings, analysis and conclusions; and (3)...

  12. Acquired Hearing Loss in Children.

    PubMed

    Kenna, Margaret A

    2015-12-01

    Hearing loss is the most common congenital sensory impairment. According to National Health and Nutrition Examination Survey data from 2001 to 2008, 20.3% of subjects aged greater than or equal to 12 had unilateral or bilateral hearing loss. The World Health Organization notes that, worldwide, there are 360 million people with disabling hearing loss, with 50% preventable. Although many hearing losses are acquired, many others are manifestations of preexisting conditions. The purpose of a pediatric hearing evaluation is to identify the degree and type of hearing loss and etiology and to outline a comprehensive strategy that supports language and social development and communication.

  13. 20 CFR 410.645 - Joint hearings.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 20 Employees' Benefits 2 2010-04-01 2010-04-01 false Joint hearings. 410.645 Section 410.645..., Finality of Decisions, and Representation of Parties § 410.645 Joint hearings. When two or more hearings... joint hearing, a joint hearing may not be held. Where joint hearings are held, a single record of...

  14. 20 CFR 410.645 - Joint hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 20 Employees' Benefits 2 2011-04-01 2011-04-01 false Joint hearings. 410.645 Section 410.645..., Finality of Decisions, and Representation of Parties § 410.645 Joint hearings. When two or more hearings... joint hearing, a joint hearing may not be held. Where joint hearings are held, a single record of...

  15. 18 CFR 1308.33 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 18 Conservation of Power and Water Resources 2 2011-04-01 2011-04-01 false Hearings. 1308.33... Prehearing and Hearing Procedures § 1308.33 Hearings. (a) TVA shall arrange for the verbatim reporting of evidentiary hearings before the Hearing Officer, and shall provide the Hearing Officer with the...

  16. 10 CFR 2.1308 - Oral hearings.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... for Hearings on License Transfer Applications § 2.1308 Oral hearings. Hearings under this subpart will be oral hearings, unless, within 15 days of the service of the notice or order granting the hearing... 10 Energy 1 2012-01-01 2012-01-01 false Oral hearings. 2.1308 Section 2.1308 Energy...

  17. 10 CFR 2.1308 - Oral hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... for Hearings on License Transfer Applications § 2.1308 Oral hearings. Hearings under this subpart will be oral hearings, unless, within 15 days of the service of the notice or order granting the hearing... 10 Energy 1 2011-01-01 2011-01-01 false Oral hearings. 2.1308 Section 2.1308 Energy...

  18. Underwater Hearing in Turtles.

    PubMed

    Willis, Katie L

    2016-01-01

    The hearing of turtles is poorly understood compared with the other reptiles. Although the mechanism of transduction of sound into a neural signal via hair cells has been described in detail, the rest of the auditory system is largely a black box. What is known is that turtles have higher hearing thresholds than other reptiles, with best frequencies around 500 Hz. They also have lower underwater hearing thresholds than those in air, owing to resonance of the middle ear cavity. Further studies demonstrated that all families of turtles and tortoises share a common middle ear cavity morphology, with scaling best suited to underwater hearing. This supports an aquatic origin of the group. Because turtles hear best under water, it is important to examine their vulnerability to anthropogenic noise. However, the lack of basic data makes such experiments difficult because only a few species of turtles have published audiograms. There are also almost no behavioral data available (understandable due to training difficulties). Finally, few studies show what kinds of sounds are behaviorally relevant. One notable paper revealed that the Australian snake-necked turtle (Chelodina oblonga) has a vocal repertoire in air, at the interface, and under water. Findings like these suggest that there is more to the turtle aquatic auditory scene than previously thought.

  19. Hearing is Believing

    NASA Technical Reports Server (NTRS)

    2003-01-01

    This paper presents a discussion on the cochlear implant. This device was developed by Adam Kissiah, who suffers from hearing loss. Driven by his own hearing problem and three failed corrective surgeries, Kissiah started working in the mid-1970s on this surgically implantable device that provides hearing sensation to persons with severe-to-profound hearing loss who receive little or no benefit from hearing aids. Uniquely, the cochlear implant concept was not based on theories of medicine, as Kissiah had no medical background whatsoever. Instead, he utilized the technical expertise he learned while working as an electronics instrumentation engineer at NASA s Kennedy Space Center for the basis of his invention. This took place over 3 years, when Kissiah would spend his lunch breaks and evenings in Kennedy s technical library, studying the impact of engineering principles on the inner ear. In April of 2003, Kissiah was inducted into the Space Foundation's U.S. Space Technology Hall of Fame for his invention

  20. How to Get Hearing Aids

    MedlinePlus

    ... to determine the type and amount of your hearing loss. The process begins with a medical and audiologic ... to rule out any medical reason for your hearing loss, such as infection, injury or deformity, ear wax ...

  1. Hearing loss in older adults.

    PubMed

    Walling, Anne D; Dickson, Gretchen M

    2012-06-15

    Hearing loss affects approximately one-third of adults 61 to 70 years of age and more than 80 percent of those older than 85 years. Men usually experience greater hearing loss and have earlier onset compared with women. The most common type is age-related hearing loss; however, many conditions can interfere with the conduction of sound vibrations to the inner ear and their conversion to electrical impulses for conduction to the brain. Screening for hearing loss is recommended in adults older than 50 to 60 years. Office screening tests include the whispered voice test and audioscopy. Older patients who admit to having difficulty hearing may be referred directly for audiometry. The history can identify risk factors for hearing loss, especially noise exposure and use of ototoxic medications. Examination of the auditory canal and tympanic membrane can identify causes of conductive hearing loss. Audiometric testing is required to confirm hearing loss. Adults presenting with idiopathic sudden sensorineural hearing loss should be referred for urgent assessment. Management of hearing loss is based on addressing underlying causes, especially obstructions (including cerumen) and ototoxic medications. Residual hearing should be optimized by use of hearing aids, assistive listening devices, and rehabilitation programs. Surgical implants are indicated for selected patients. Major barriers to improved hearing in older adults include lack of recognition of hearing loss; perception that hearing loss is a normal part of aging or is not amenable to treatment; and patient nonadherence with hearing aids because of stigma, cost, inconvenience, disappointing initial results, or other factors. PMID:22962895

  2. [Hearing disorders and rock music].

    PubMed

    Lindhardt, Bjarne Orskov

    2008-12-15

    Only few studies have investigated the frequency of hearing disorders in rock musicians. Performing rock music is apparently associated with a hearing loss in a fraction of musicians. Tinnitus and hyperacusis are more common among rock musicians than among the background population. It seems as if some sort of resistance against further hearing loss is developed over time. The use of ear protection devices have not been studied systematically but appears to be associated with diminished hearing loss.

  3. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  4. Upcoming hearings in Congress

    NASA Astrophysics Data System (ADS)

    Richman, Barbara T.

    The following hearings and markups have been tentatively scheduled for the coming weeks by the Senate and House of Representatives. Dates and times should be verified with the committee or subcommittee holding the hearing or markup; all offices on Capitol Hill may be reached by telephoning 202-224-3121. For guidelines on contacting a member of Congress, see AGU's Guide to Legislative Information and Contacts (Eos, August 28, 1984, p. 669).June 27: Hearing on legislation to impose user fees for some of the services provided by the National Oceanic and Atmospheric Administration by the Coast Guard Subcommit-tee of the House Merchant Marine and Fisheries Committee. Room 1334, Longworth Building, 9:30 A.M.

  5. 78 FR 11237 - Public Hearing

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-15

    ... SAFETY BOARD Public Hearing On Tuesday, February 26, 2013 the National Transportation Safety Board (NTSB) will convene an Investigative Hearing to gather additional factual information for the ongoing...) intermodal train No. AAMMLX-22 on June 24, 2012 near Goodwell, Oklahoma. The hearing will begin at 9:00...

  6. Eldercare at Home: Hearing Problems

    MedlinePlus

    ... members and friends to comment on how much communication has improved when your mother is wearing the hearing aid. If your mother is concerned about the appearance of a hearing aid, tell her that most women can style their hair to cover the hearing aids. Problem " ...

  7. The physics of hearing: fluid mechanics and the active process of the inner ear

    NASA Astrophysics Data System (ADS)

    Reichenbach, Tobias; Hudspeth, A. J.

    2014-07-01

    Most sounds of interest consist of complex, time-dependent admixtures of tones of diverse frequencies and variable amplitudes. To detect and process these signals, the ear employs a highly nonlinear, adaptive, real-time spectral analyzer: the cochlea. Sound excites vibration of the eardrum and the three miniscule bones of the middle ear, the last of which acts as a piston to initiate oscillatory pressure changes within the liquid-filled chambers of the cochlea. The basilar membrane, an elastic band spiraling along the cochlea between two of these chambers, responds to these pressures by conducting a largely independent traveling wave for each frequency component of the input. Because the basilar membrane is graded in mass and stiffness along its length, however, each traveling wave grows in magnitude and decreases in wavelength until it peaks at a specific, frequency-dependent position: low frequencies propagate to the cochlear apex, whereas high frequencies culminate at the base. The oscillations of the basilar membrane deflect hair bundles, the mechanically sensitive organelles of the ear's sensory receptors, the hair cells. As mechanically sensitive ion channels open and close, each hair cell responds with an electrical signal that is chemically transmitted to an afferent nerve fiber and thence into the brain. In addition to transducing mechanical inputs, hair cells amplify them by two means. Channel gating endows a hair bundle with negative stiffness, an instability that interacts with the motor protein myosin-1c to produce a mechanical amplifier and oscillator. Acting through the piezoelectric membrane protein prestin, electrical responses also cause outer hair cells to elongate and shorten, thus pumping energy into the basilar membrane's movements. The two forms of motility constitute an active process that amplifies mechanical inputs, sharpens frequency discrimination, and confers a compressive nonlinearity on responsiveness. These features arise because the

  8. The physics of hearing: fluid mechanics and the active process of the inner ear.

    PubMed

    Reichenbach, Tobias; Hudspeth, A J

    2014-07-01

    Most sounds of interest consist of complex, time-dependent admixtures of tones of diverse frequencies and variable amplitudes. To detect and process these signals, the ear employs a highly nonlinear, adaptive, real-time spectral analyzer: the cochlea. Sound excites vibration of the eardrum and the three miniscule bones of the middle ear, the last of which acts as a piston to initiate oscillatory pressure changes within the liquid-filled chambers of the cochlea. The basilar membrane, an elastic band spiraling along the cochlea between two of these chambers, responds to these pressures by conducting a largely independent traveling wave for each frequency component of the input. Because the basilar membrane is graded in mass and stiffness along its length, however, each traveling wave grows in magnitude and decreases in wavelength until it peaks at a specific, frequency-dependent position: low frequencies propagate to the cochlear apex, whereas high frequencies culminate at the base. The oscillations of the basilar membrane deflect hair bundles, the mechanically sensitive organelles of the ear's sensory receptors, the hair cells. As mechanically sensitive ion channels open and close, each hair cell responds with an electrical signal that is chemically transmitted to an afferent nerve fiber and thence into the brain. In addition to transducing mechanical inputs, hair cells amplify them by two means. Channel gating endows a hair bundle with negative stiffness, an instability that interacts with the motor protein myosin-1c to produce a mechanical amplifier and oscillator. Acting through the piezoelectric membrane protein prestin, electrical responses also cause outer hair cells to elongate and shorten, thus pumping energy into the basilar membrane's movements. The two forms of motility constitute an active process that amplifies mechanical inputs, sharpens frequency discrimination, and confers a compressive nonlinearity on responsiveness. These features arise because the

  9. [Hearing aid rehabilitation of hearing disorders in adults].

    PubMed

    Spillmann, T

    1993-09-01

    Hearing-aid provision is still partly a medical task, in spite of technological progress and a confusing variety of types and models of devices. The diagnosis of the underlying disease, the appreciation of the consequences of hearing loss and the counseling of the hearing impaired person are prerequisites of the treatment. The physician should try to determine the etiology of the hearing loss. Also, a state-of-the-art otologic examination should be performed and the physician should be sensitive to the psychological and social consequences of the patient's hearing loss. For the assessment of fitted hearing aids, basic knowledge of the technical background is required. To measure hearing-aid benefit in the ENT office, suprathreshold and speech audiometry are indispensable tools.

  10. Autism and Hearing Loss.

    ERIC Educational Resources Information Center

    Rosenhall, Ulf; Nordin, Viviann; Sandstrom, Mikael; Ahlsen, Gunilla; Gillberg, Christopher

    1999-01-01

    Children and adolescents (N=199) with autistic disorder were audiologically evaluated. Mild to moderate hearing loss was diagnosed in 7.9 percent, with deafness diagnosed in 3.5 percent of all cases, which represented a prevalence considerably above that in the general population and comparable to the prevalence found in populations with mental…

  11. Sudden Hearing Loss.

    ERIC Educational Resources Information Center

    Vaughan, John C.

    1997-01-01

    Patients with a sudden dramatic decline in hearing usually require rapid diagnosis and treatment. Unfortunately, the treatment of this condition continues to be controversial and an exact etiology in most cases has been inconclusive. Nevertheless, physicians have reached a consensus regarding several broad principles, which are presented in this…

  12. Hear and Now

    ERIC Educational Resources Information Center

    McKeon, Michael; Berry, Lincoln

    2006-01-01

    Classrooms often get the short shrift when it comes to designing a space that allows for optimum hearing conditions for students and speaking conditions for teachers. Over the last few years, increasing concern from state regulators and facility designers has focused greater attention on improving acoustics. The main acoustical issues to consider…

  13. Hearing, Listening and Phonosensitivity.

    ERIC Educational Resources Information Center

    Feldman, David

    This paper examines human phonosensitivity (the process by which an organism receives acoustic stimuli and integrates them into its behavior patterns), which is divided into two distinct but inseparable systems: hearing, which controls the reception, transmission, and perception of acoustic stimuli, and listening, which controls the discrimination…

  14. Parent Hearing Aid Experiences

    ERIC Educational Resources Information Center

    Munoz, Karen; Roberts, Mallory; Mullings, Day; Harward, Richard

    2012-01-01

    This study addresses parent experiences in obtaining and managing hearing aids for their young child. The purpose was to identify challenges parents encounter to determine what state agencies can do to improve parent access to amplification. Data were collected July through September of 2010; 40 parents of children ages birth to 3 years old…

  15. Hearing Impaired: Curriculum Guide.

    ERIC Educational Resources Information Center

    Alberta Dept. of Education, Edmonton.

    The curriculum guide is intended to assist families, school administrators, and teachers providing educational services to hearing impaired (HI) children in regular and special classes in Alberta, Canada. Explained in the introduction are such curriculum aspects as goals and purpose, population to be served, eligibility criteria, three…

  16. Devices for hearing loss

    MedlinePlus

    ... bring the sound from your TV, radio, or music player directly to your inner ear. Many listening devices now work through a wireless link and can connect directly to your hearing aid. There is also television closed-captioning, which shows ...

  17. Buying a Hearing Aid

    MedlinePlus

    ... requests or policy questions to our media and public relations staff at newsroom@entnet.org . I don't hear well. What should I do? What should I expect? First, visit a ... use and public sound systems. Other options, such as FM systems ...

  18. Innovative Technology in Hearing Instruments

    PubMed Central

    2011-01-01

    Hearing instrument technology research is almost entirely focused on the projected needs of the consumer market in the developed world. However, two thirds of the world’s population with hearing impairment live in developing countries and this proportion will increase in future, given present demographic trends. In developing regions, amplification and other hearing health needs may differ from those in industrialized nations, for cultural, health, or economic reasons. World Health Organization estimates indicate that at present only a small percentage of individuals in developing countries who are in need of amplification have access to hearing aid provision. New technologies, such as trainable hearing aids, advanced noise reduction algorithms, feedback reduction circuitry, nano coatings for hearing aid components, and innovative power options, may offer considerable potential benefits, both for individuals with hearing impairment in developing countries and for those who provide hearing health care services in these regions. This article considers the possible supporting role of innovative hearing instrument technologies in the provision of affordable hearing health care services in developing countries and highlights the need for research that considers the requirements of the majority of the world population in need of hearing instrument provision. PMID:22068223

  19. An introduction to hearing aids

    NASA Astrophysics Data System (ADS)

    Dyrlund, Ole

    2003-04-01

    This presentation reviews hearing-aid development from analog to advanced digital technology. A basic hearing aid consists of a microphone, an amplification circuit that provides a gain that varies with frequency to accommodate variations in hearing loss with frequency, and a small earphone. In recent years, hearing aid technology has developed rapidly. Digital hearing aids have become commonplace and their share of the marketplace is increasing rapidly. Therefore, the main focus of this talk is signal-processing schemes in advanced digital hearing aids, including microphones with digitally controlled directional characteristics, wide-dynamic-range compression in multiple channels that allow the compression characteristics to vary with frequency, noise reduction, and feedback cancellation. Each of these signal-processing functions help address the needs of individuals with hearing losses.

  20. Hearing and hearing conservation practices among Australia's professional orchestral musicians.

    PubMed

    O'Brien, Ian; Ackermann, Bronwen J; Driscoll, Tim

    2014-01-01

    Orchestral musicians are an at-risk population for noise-induced hearing loss. Following strategic approaches to mitigate exposure, many must use earplugs to safeguard their hearing, although reported usage rates are poor. Australia has progressive hearing conservation programs within many of its orchestras, yet little is known of earplug usage rates, abilities with earplugs or self-perceived hearing loss in this population. To help direct and inform future approaches to hearing conservation in Australia's orchestras a questionnaire assessing hearing conservation behaviors and the prevalence of self-perceived hearing loss was distributed. A total of 580 musicians across eight professional orchestras were surveyed, with 367 completed surveys (63%) returned. Eighty percent of respondents reported a risk of hearing damage in the orchestra, 64% used earplugs of some type at least some of the time and 83% found this use difficult/impossible. Forty-three percent reported a hearing loss, including 54% in pit orchestras and 46% of those ≤50 years of age. Brass players were least likely to use earplugs, most likely to report usage difficulties and most likely of those ≤50 years of age to report a hearing loss. While earplug usage rates in Australia are encouraging and may be linked to hearing conservation measures in the orchestras, the widespread difficulty reported with the use of these earplugs, the prevalence of self-reported hearing loss and the continued vulnerability of those most at-risk indicate improvements in both earplug design and further education for musicians are required to progress hearing conservation options for this population.

  1. Bone Anchored Hearing Aid

    PubMed Central

    2002-01-01

    Executive Summary Objective The objective of this health technology policy assessment was to determine the effectiveness and cost-effectiveness of bone-anchored hearing aid (BAHA) in improving the hearing of people with conduction or mixed hearing loss. The Technology The (BAHA) is a bone conduction hearing device that includes a titanium fixture permanently implanted into the mastoid bone of the skull and an external percutaneous sound processor. The sound processor is attached to the fixture by means of a skin penetrating abutment. Because the device bypasses the middle ear and directly stimulates the cochlea, it has been recommended for individuals with conduction hearing loss or discharging middle ear infection. The titanium implant is expected to last a lifetime while the external sound processor is expected to last 5 years. The total initial device cost is approximately $5,300 and the external sound processor costs approximately $3,500. Review of BAHA by the Medical Advisory Secretariat The Medical Advisory Secretariat’s review is a descriptive synthesis of findings from 36 research articles published between January 1990 and May 2002. Summary of Findings No randomized controlled studies were found. The evidence was derived from level 4 case series with relative small sample sizes (ranging from 30-188). The majority of the studies have follow-up periods of eight years or longer. All except one study were based on monaural BAHA implant on the side with the best bone conduction threshold. Safety Level 4 evidence showed that BAHA has been be implanted safely in adults and children with success rates of 90% or higher in most studies. No mortality or life threatening morbidity has been reported. Revision rates for tissue reduction or resiting were generally under 10% for adults but have been reported to be as high as 25% in pediatric studies. Adverse skin reaction around the skin penetration site was the most common complication reported. Most of these

  2. [Practical medico-genetic counseling for congenital and early loss of hearing in children].

    PubMed

    Markova, T G; Poliakov, A V; Kunel'skaia, N L

    2008-01-01

    Current knowledge of hereditary loss of hearing provides a basis for effective diagnosis and prevention of hearing disorder. There is a little doubt of the necessity of medico-genetic counseling (MGC) for families facing this with problem. New molecular methods for the detection of its causes give hope to many couples in terms of rational family planning. We had an opportunity to compare results of MGC for the loss of hearing using these methods and without DNA-diagnosis and would like to familiarize clinicians with our experience in counseling such families. The majority of the children in whom hereditary loss of hearing was due to 35delG mutation in the connexin gene 26 (Cx26) had no hearing problems in the family history and their parents had normal hearing abilities. Hereditary loss of hearing in such patients can be diagnosed only by DNA analysis. We describe more complex variants of hearing disdetection in the counseled families and illustrate the importance of whole gene Cx26 analysis in 10 of them by the DNA sequencing technique. Testing for a single mutation is insufficient for correct diagnosis. Identification of such families provides data for the extension of the group at risk of congenital loss of hearing. Effective diagnosis can be achieved by improved molecular analysis and close cooperation between specialists conducting prospective and retrospective family counseling.

  3. Pediatric Sudden Sensorineural Hearing Loss.

    PubMed

    Kizilay, Ahmet; Koca, Çiğdem Firat

    2016-06-01

    Sudden sensorineural hearing loss is defined as sudden unilateral or bilateral sensorineural hearing loss with at least 30 dB decrease in threshold in 3 contiguous test frequencies occurring over 72 hours or less. It is rare among children. The mechanism of the process and prognosis of the disorder remains unclear. The current incidence of sudden sensorineural hearing loss among pediatric population is unknown. The authors carried out a retrospective chart analysis of patients under 15 years of age from 2004 to 2015, who consulted to the Otolaryngology Head and Neck Surgery Department of Inonu University Medical Faculty. Age, sex, number of affected ear and side, audiometric evaluations, medical follow-up, treatment method, duration of treatment recovery, associated complaints; tinnitus and/or vertigo, presence of mumps disease were recorded for each patient. A 4-frequency pure-tone average (500, 1000, 2000, and 4000 Hz) was calculated for each ear. Complete recovery, defined as some hearing level compared with the nonaffected ear, was observed in 3 patients (21.4 %) and there was no partial hearing recovery. The hearing loss of 11 patient remained unchanged after prednisolone treatment. Two of the 11 patients had bilaterally total sensorineural hearing loss and evaluated as appropriate for cochlear implantation. Sex of patient and laterality of hearing loss were not correlated with hearing recovery. Sensorineural hearing loss among pediatrics has been the issue of otolaryngologists. The incidence, etiology, and treatment methods should be more studied.

  4. 42 CFR 498.54 - Joint hearings.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 5 2010-10-01 2010-10-01 false Joint hearings. 498.54 Section 498.54 Public Health... PROGRAM Hearings § 498.54 Joint hearings. When two or more affected parties have requested hearings and... joint hearings are held, a single record of the preceedings is made and a separate decision issued...

  5. 42 CFR 498.54 - Joint hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 5 2011-10-01 2011-10-01 false Joint hearings. 498.54 Section 498.54 Public Health... PROGRAM Hearings § 498.54 Joint hearings. When two or more affected parties have requested hearings and... joint hearings are held, a single record of the preceedings is made and a separate decision issued...

  6. 42 CFR 498.54 - Joint hearings.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 5 2012-10-01 2012-10-01 false Joint hearings. 498.54 Section 498.54 Public Health... PROGRAM Hearings § 498.54 Joint hearings. When two or more affected parties have requested hearings and... joint hearings are held, a single record of the preceedings is made and a separate decision issued...

  7. 42 CFR 423.1040 - Joint hearings.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 3 2010-10-01 2010-10-01 false Joint hearings. 423.1040 Section 423.1040 Public... § 423.1040 Joint hearings. When two or more affected parties have requested hearings and the same or... the prehearing conference or hearing and conduct all proceedings jointly. If joint hearings are...

  8. 42 CFR 423.1040 - Joint hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 3 2011-10-01 2011-10-01 false Joint hearings. 423.1040 Section 423.1040 Public... § 423.1040 Joint hearings. When two or more affected parties have requested hearings and the same or... the prehearing conference or hearing and conduct all proceedings jointly. If joint hearings are...

  9. 42 CFR 422.1040 - Joint hearings.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 3 2013-10-01 2013-10-01 false Joint hearings. 422.1040 Section 422.1040 Public....1040 Joint hearings. When two or more affected parties have requested hearings and the same or... the prehearing conference or hearing and conduct all proceedings jointly. If joint hearings are...

  10. 42 CFR 422.1040 - Joint hearings.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 3 2014-10-01 2014-10-01 false Joint hearings. 422.1040 Section 422.1040 Public....1040 Joint hearings. When two or more affected parties have requested hearings and the same or... the prehearing conference or hearing and conduct all proceedings jointly. If joint hearings are...

  11. 42 CFR 422.1040 - Joint hearings.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 3 2012-10-01 2012-10-01 false Joint hearings. 422.1040 Section 422.1040 Public....1040 Joint hearings. When two or more affected parties have requested hearings and the same or... the prehearing conference or hearing and conduct all proceedings jointly. If joint hearings are...

  12. 42 CFR 498.54 - Joint hearings.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 5 2014-10-01 2014-10-01 false Joint hearings. 498.54 Section 498.54 Public Health... PROGRAM Hearings § 498.54 Joint hearings. When two or more affected parties have requested hearings and... joint hearings are held, a single record of the proceedings is made and a separate decision issued...

  13. 42 CFR 498.54 - Joint hearings.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 5 2013-10-01 2013-10-01 false Joint hearings. 498.54 Section 498.54 Public Health... PROGRAM Hearings § 498.54 Joint hearings. When two or more affected parties have requested hearings and... joint hearings are held, a single record of the proceedings is made and a separate decision issued...

  14. 12 CFR 308.160 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 4 2011-01-01 2011-01-01 false Hearings. 308.160 Section 308.160 Banks and... Hearings. (a) Hearing dates. The Executive Secretary shall order a hearing to be commenced within 60 days after receipt of a request for hearing on an application filed pursuant to § 308.159. Upon the...

  15. 34 CFR 668.88 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 34 Education 3 2011-07-01 2011-07-01 false Hearing. 668.88 Section 668.88 Education Regulations of... Proceedings § 668.88 Hearing. (a) A hearing is an orderly presentation of arguments and evidence conducted by a hearing official. (b) If the hearing official, the designated department official who brought...

  16. 36 CFR 1211.620 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 36 Parks, Forests, and Public Property 3 2011-07-01 2011-07-01 false Hearings. 1211.620 Section... Procedures § 1211.620 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is... may request of the designated agency official that the matter be scheduled for hearing; or (2)...

  17. 40 CFR 57.807 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 5 2011-07-01 2011-07-01 false Hearing. 57.807 Section 57.807... § 57.807 Hearing. (a) Composition of hearing panel. The Presiding Officer shall preside at the hearing held under this subpart. An EPA panel shall also take part in the hearing. In general, the...

  18. 12 CFR 308.160 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 4 2010-01-01 2010-01-01 false Hearings. 308.160 Section 308.160 Banks and... Hearings. (a) Hearing dates. The Executive Secretary shall order a hearing to be commenced within 60 days after receipt of a request for hearing on an application filed pursuant to § 308.159. Upon the...

  19. 10 CFR 431.426 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 10 Energy 3 2011-01-01 2011-01-01 false Hearing. 431.426 Section 431.426 Energy DEPARTMENT OF... § 431.426 Hearing. The Secretary may hold a public hearing, and publish notice in the Federal Register of the date and location of the hearing, when he determines that such a hearing is necessary...

  20. 12 CFR 308.164 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 4 2011-01-01 2011-01-01 false Hearings. 308.164 Section 308.164 Banks and... Where a Felony ls Charged § 308.164 Hearings. (a) Hearing dates. The Executive Secretary shall order a hearing to be commenced within 30 days after receipt of a request for hearing filed pursuant to §...

  1. 45 CFR 1203.9 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 4 2011-10-01 2011-10-01 false Hearings. 1203.9 Section 1203.9 Public Welfare... Hearings. (a) Opportunity for hearing. When an opportunity for a hearing is required by § 1203.8(c... matter be scheduled for hearing; or (2) Advise the applicant or recipient that the matter in question...

  2. 12 CFR 308.155 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 4 2011-01-01 2011-01-01 false Hearing. 308.155 Section 308.155 Banks and... Pursuant to Section 32 of the FDIA § 308.155 Hearing. (a) Hearing dates. The Executive Secretary shall order a hearing to be commenced within 30 days after receipt of a request for a hearing filed...

  3. 14 CFR 13.79 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Hearing. 13.79 Section 13.79 Aeronautics....79 Hearing. If an alleged violator requests a hearing in accordance with § 13.75, the procedure of Subpart D of this part applies. At the close of the hearing, the Hearing Officer, on the record...

  4. 34 CFR 668.88 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false Hearing. 668.88 Section 668.88 Education Regulations of... Proceedings § 668.88 Hearing. (a) A hearing is an orderly presentation of arguments and evidence conducted by a hearing official. (b) If the hearing official, the designated department official who brought...

  5. 45 CFR 73b.5 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 1 2011-10-01 2011-10-01 false Hearings. 73b.5 Section 73b.5 Public Welfare... § 73b.5 Hearings. (a) Hearings shall be stenographically recorded and transcribed and the testimony of witnesses shall be taken under oath or affirmation. Hearings will be closed unless an open hearing...

  6. 39 CFR 957.13 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 39 Postal Service 1 2011-07-01 2011-07-01 false Hearings. 957.13 Section 957.13 Postal Service... SUSPENSION FROM CONTRACTING § 957.13 Hearings. (a) Hearings are held at 2101 Wilson Boulevard, Suite 600... than 7 days prior to the scheduled date of a hearing, file a request that such hearing be held at...

  7. 45 CFR 16.11 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 1 2011-10-01 2011-10-01 false Hearing. 16.11 Section 16.11 Public Welfare... BOARD § 16.11 Hearing. (a) Electing a hearing. If the appellant believes a hearing is appropriate, the... appeal file). The Board will approve a request (and may schedule a hearing on its own or in response to...

  8. 7 CFR 400.132 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 6 2011-01-01 2011-01-01 false Hearings. 400.132 Section 400.132 Agriculture... Years § 400.132 Hearings. (a) If an employee timely files a petition for a hearing, the FCIC Official will select the date, time, and location for the hearing. (b) The hearing shall be conducted by...

  9. 45 CFR 73b.5 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Hearings. 73b.5 Section 73b.5 Public Welfare... § 73b.5 Hearings. (a) Hearings shall be stenographically recorded and transcribed and the testimony of witnesses shall be taken under oath or affirmation. Hearings will be closed unless an open hearing...

  10. 37 CFR 11.44 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2010-07-01 2010-07-01 false Hearings. 11.44 Section 11.44... Proceedings; Jurisdiction, Sanctions, Investigations, and Proceedings § 11.44 Hearings. (a) The hearing officer shall preside over hearings in disciplinary proceedings. The hearing officer shall set the...

  11. 10 CFR 205.172 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 10 Energy 3 2011-01-01 2011-01-01 false Hearings. 205.172 Section 205.172 Energy DEPARTMENT OF ENERGY OIL ADMINISTRATIVE PROCEDURES AND SANCTIONS Conferences, Hearings, and Public Hearings § 205.172 Hearings. (a) The DOE in its discretion may direct that a hearing be convened on its own initiative or...

  12. 49 CFR 209.115 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Hearing. 209.115 Section 209.115 Transportation... Hearing. (a) When a hearing is requested and scheduled under § 209.113, a hearing officer designated by the Chief Counsel convenes and presides over the hearing. If requested by respondent and...

  13. 15 CFR 8.12 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 15 Commerce and Foreign Trade 1 2011-01-01 2011-01-01 false Hearings. 8.12 Section 8.12 Commerce... Compliance § 8.12 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is required by... hearing, or (2) advise the recipient or other party that the matter in question has been set down...

  14. 10 CFR 205.173 - Public hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 3 2010-01-01 2010-01-01 false Public hearings. 205.173 Section 205.173 Energy DEPARTMENT OF ENERGY OIL ADMINISTRATIVE PROCEDURES AND SANCTIONS Conferences, Hearings, and Public Hearings § 205.173 Public hearings. (a) A public hearing shall be convened incident to a rulemaking: (1) When...

  15. 10 CFR 2.1308 - Oral hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Oral hearings. 2.1308 Section 2.1308 Energy NUCLEAR REGULATORY COMMISSION RULES OF PRACTICE FOR DOMESTIC LICENSING PROCEEDINGS AND ISSUANCE OF ORDERS Procedures for Hearings on License Transfer Applications § 2.1308 Oral hearings. Hearings under this subpart will be oral hearings, unless, within 15 days...

  16. 10 CFR 2.1308 - Oral hearings.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 10 Energy 1 2014-01-01 2014-01-01 false Oral hearings. 2.1308 Section 2.1308 Energy NUCLEAR... Applications § 2.1308 Oral hearings. Hearings under this subpart will be oral hearings, unless, within 15 days of the service of the notice or order granting the hearing, the parties unanimously agree and file...

  17. 10 CFR 2.1308 - Oral hearings.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 10 Energy 1 2013-01-01 2013-01-01 false Oral hearings. 2.1308 Section 2.1308 Energy NUCLEAR... Applications § 2.1308 Oral hearings. Hearings under this subpart will be oral hearings, unless, within 15 days of the service of the notice or order granting the hearing, the parties unanimously agree and file...

  18. 22 CFR 34.15 - Outside hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... the origin, nature, and amount of the debt; (ii) The hearing official's findings, analysis, and... hearings shall be conducted by a hearing official not under the supervision or control of STATE. (c) Procedure. (1) After the employee requests a hearing, the hearing official shall notify the employee of...

  19. Narrative Schemata in Hearing-Impaired Readers.

    ERIC Educational Resources Information Center

    Knight, David L.

    The study involving 82 hearing and 78 hearing impaired undergraduates was undertaken to test the hypothesis that hearing impaired Ss would cluster prepositions into different sentence groups when operating from scrambled story presentations than would hearing Ss. It was also hypothesized that hearing impaired Ss would show different cluster…

  20. 45 CFR 96.66 - Hearing procedure.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 45 Public Welfare 1 2013-10-01 2013-10-01 false Hearing procedure. 96.66 Section 96.66 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION BLOCK GRANTS Hearing Procedure § 96.66 Hearing procedure. (a) A hearing is public, except when the Secretary or the presiding officer determines that all or part of a hearing...

  1. 34 CFR 300.181 - Hearing procedures.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... evidentiary hearing and estimation of time for each presentation; or (E) Completion of the review and the... proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and other issues at any stage of...) Each party must file with the Hearing Official or Hearing Panel all written motions, briefs, and...

  2. 34 CFR 303.233 - Hearing procedures.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... evidentiary hearing and an estimation of time for each presentation; and (E) Completion of the review and the... at any stage of the proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and... fee. (q) Each party must file with the Hearing Official or Hearing Panel all written motions,...

  3. 34 CFR 300.181 - Hearing procedures.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... evidentiary hearing and estimation of time for each presentation; or (E) Completion of the review and the... proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and other issues at any stage of...) Each party must file with the Hearing Official or Hearing Panel all written motions, briefs, and...

  4. 34 CFR 300.181 - Hearing procedures.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... evidentiary hearing and estimation of time for each presentation; or (E) Completion of the review and the... proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and other issues at any stage of...) Each party must file with the Hearing Official or Hearing Panel all written motions, briefs, and...

  5. 34 CFR 300.181 - Hearing procedures.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... evidentiary hearing and estimation of time for each presentation; or (E) Completion of the review and the... proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and other issues at any stage of...) Each party must file with the Hearing Official or Hearing Panel all written motions, briefs, and...

  6. 34 CFR 303.233 - Hearing procedures.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... evidentiary hearing and an estimation of time for each presentation; and (E) Completion of the review and the... at any stage of the proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and... fee. (q) Each party must file with the Hearing Official or Hearing Panel all written motions,...

  7. 34 CFR 300.181 - Hearing procedures.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... evidentiary hearing and estimation of time for each presentation; or (E) Completion of the review and the... proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and other issues at any stage of...) Each party must file with the Hearing Official or Hearing Panel all written motions, briefs, and...

  8. 34 CFR 303.233 - Hearing procedures.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... evidentiary hearing and an estimation of time for each presentation; and (E) Completion of the review and the... at any stage of the proceedings. (h) The Hearing Official or Hearing Panel may rule on motions and... fee. (q) Each party must file with the Hearing Official or Hearing Panel all written motions,...

  9. Idiopathic Sudden Sensorineural Hearing Loss With Minimal Hearing Impairment

    PubMed Central

    Cho, Chin Saeng

    2015-01-01

    Objectives The aim of the study was to determine the characteristics of patients who did not match the audiometric criteria of idiopathic sudden sensorineural hearing loss (SSNHL) but complained of acute hearing loss. Methods By thorough medical chart reviews, historical cohort study was performed with consecutive data of 589 patients complaining of acute unilateral sensorineural hearing loss without identifiable causes between 2005 and 2013. Those patients demonstrating a hearing loss of at least 30 dB at three consecutive frequencies based on pure tone audiometry were classified as group I; the others were classified as group II. Patients' characteristics, final hearing, and hearing improvement rate (HIR) between the two groups were compared. Results Group II exhibited distinctive characteristics, including an early age of onset of the hearing loss (P<0.01), an absence of accompanying diabetes (P<0.01) and hypertension (P<0.01), and better unaffected hearing and final hearing compared with group I (P<0.001). However, the HIR of the patients in the two groups was not significantly different (P>0.05). Conclusion Patients who did not meet the audiological criteria of SSNHL exhibited distinctive characteristics compared to SSNHL patients. PMID:26622953

  10. Directional Hearing Aid

    NASA Technical Reports Server (NTRS)

    Jhabvala, M.; Lin, H. C.

    1989-01-01

    Hearing-aid device indicates visually whether sound is coming from left, right, back, or front. Device intended to assist individuals who are deaf in at least one ear and unable to discern naturally directions to sources of sound. Device promotes safety in street traffic, on loading docks, and in presence of sirens, alarms, and other warning sounds. Quadraphonic version of device built into pair of eyeglasses and binaural version built into visor.

  11. Frequency-Shift Hearing Aid

    NASA Technical Reports Server (NTRS)

    Weinstein, Leonard M.

    1994-01-01

    Proposed hearing aid maps spectrum of speech into band of lower frequencies at which ear remains sensitive. By redirecting normal speech frequencies into frequency band from 100 to 1,500 Hz, hearing aid allows people to understand normal conversation, including telephone calls. Principle operation of hearing aid adapted to other uses such as, clearing up noisy telephone or radio communication. In addition, loud-speakers more easily understood in presence of high background noise.

  12. 19 CFR 111.67 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... Cancellation, Suspension, or Revocation of License or Permit, and Monetary Penalty in Lieu of Suspension or Revocation § 111.67 Hearing. (a) Hearing officer. The hearing officer must be an administrative law...

  13. 29 CFR 1450.22 - Hearing.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... outside the control or authority of FMCS. In determining the type of hearing, the hearing officer will..., findings, and conclusions, in the light of the hearing, as to— (A) The employee's and/or agency's...

  14. 29 CFR 1450.22 - Hearing.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... outside the control or authority of FMCS. In determining the type of hearing, the hearing officer will..., findings, and conclusions, in the light of the hearing, as to— (A) The employee's and/or agency's...

  15. Hearing Loss in Children: Screening and Diagnosis

    MedlinePlus

    ... Form Controls NCBDDD Cancel Submit Search The CDC Hearing Loss in Children Note: Javascript is disabled or is ... message, please visit this page: About CDC.gov . Hearing Loss Homepage Facts Noise-Induced Hearing Loss Genetics of ...

  16. 7 CFR 273.15 - Fair hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ..., notification of the hearing decision will be required within 70 days from the date of the request for a hearing... migrant farmworkers, that plan to move from the jurisdiction of the hearing official before the...

  17. The Stigma of Hearing Loss

    PubMed Central

    Wallhagen, Margaret I.

    2010-01-01

    Purpose: To explore dimensions of stigma experienced by older adults with hearing loss and those with whom they frequently communicate to target interventions promoting engagement and positive aging. Design and Methods: This longitudinal qualitative study conducted interviews over 1 year with dyads where one partner had hearing loss. Participants were naive to or had not worn hearing aids in the past year. Data were analyzed using grounded theory, constant comparative methodology. Results: Perceived stigma emerged as influencing decision-making processes at multiple points along the experiential continuum of hearing loss, such as initial acceptance of hearing loss, whether to be tested, type of hearing aid selected, and when and where hearing aids were worn. Stigma was related to 3 interrelated experiences, alterations in self-perception, ageism, and vanity and was influenced by dyadic relationships and external societal forces, such as health and hearing professionals and media. Implications: Findings are discussed in relation to theoretical perspectives regarding stigma and ageism and suggest the need to destigmatize hearing loss by promoting its assessment and treatment as well as emphasizing the importance of remaining actively engaged to support positive physical and cognitive functioning. PMID:19592638

  18. [Case report: swallowed hearing aid].

    PubMed

    Walther, E K

    1995-11-01

    An 86-year-old man presented ambulatory with acute dysphagia. Radiologic examination and endoscopy revealed a swallowed postauricular hearing aid. The earmold of the hearing aid became visible in the hypopharynx after mucus and saliva were removed. It could be extracted without effort once the connecting tube was disconnected from the coupling device lodged in the upper esophageal sphincter. The hearing aid itself was impacted in the proximal esophagus and was extracted without any problems. The postoperative phase was uneventful with normal swallowing and discharge. Technical inspection revealed that the hearing aid no longer worked. Diffusion of toxic substances (zinc, mercury) from the impacted batteries is not to be expected.

  19. Middle Ear Infection (Chronic Otitis Media) and Hearing Loss

    MedlinePlus

    ... You Middle Ear Infection (Chronic Otitis Media) and Hearing Loss Middle Ear Infection (Chronic Otitis Media) and Hearing ... learning important speech and language skills. Types of hearing loss Conductive hearing loss is a form of hearing ...

  20. 20 CFR 410.630 - Hearing; right to hearing.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 410.630 Employees' Benefits SOCIAL SECURITY ADMINISTRATION FEDERAL COAL MINE HEALTH AND SAFETY ACT OF..., Administrative Review, Finality of Decisions, and Representation of Parties § 410.630 Hearing; right to hearing... reconsideration of the determination have been made by the Social Security Administration concerning a...

  1. 20 CFR 410.630 - Hearing; right to hearing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 410.630 Employees' Benefits SOCIAL SECURITY ADMINISTRATION FEDERAL COAL MINE HEALTH AND SAFETY ACT OF..., Administrative Review, Finality of Decisions, and Representation of Parties § 410.630 Hearing; right to hearing... reconsideration of the determination have been made by the Social Security Administration concerning a...

  2. 49 CFR 1113.1 - Scheduling hearings; continued hearings.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 49 Transportation 8 2013-10-01 2013-10-01 false Scheduling hearings; continued hearings. 1113.1 Section 1113.1 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... posted on the Board's Web site, will be served upon the parties and such other persons as may be...

  3. 49 CFR 1113.1 - Scheduling hearings; continued hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 8 2011-10-01 2011-10-01 false Scheduling hearings; continued hearings. 1113.1 Section 1113.1 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... posted on the Board's Web site, will be served upon the parties and such other persons as may be...

  4. 49 CFR 1113.1 - Scheduling hearings; continued hearings.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 49 Transportation 8 2014-10-01 2014-10-01 false Scheduling hearings; continued hearings. 1113.1 Section 1113.1 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... posted on the Board's Web site, will be served upon the parties and such other persons as may be...

  5. 49 CFR 1113.1 - Scheduling hearings; continued hearings.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 49 Transportation 8 2012-10-01 2012-10-01 false Scheduling hearings; continued hearings. 1113.1 Section 1113.1 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... posted on the Board's Web site, will be served upon the parties and such other persons as may be...

  6. 49 CFR 1113.1 - Scheduling hearings; continued hearings.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 8 2010-10-01 2010-10-01 false Scheduling hearings; continued hearings. 1113.1 Section 1113.1 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... posted on the Board's Web site, will be served upon the parties and such other persons as may be...

  7. 42 CFR 405.720 - Hearing; right to hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Hearing; right to hearing. 405.720 Section 405.720 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE PROGRAM FEDERAL HEALTH INSURANCE FOR THE AGED AND DISABLED Reconsiderations and Appeals Under...

  8. 28 CFR 541.8 - Discipline Hearing Officer (DHO) hearing.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Administrative Remedy Program, 28 CFR part 542, subpart B. ... 28 Judicial Administration 2 2012-07-01 2012-07-01 false Discipline Hearing Officer (DHO) hearing... MANAGEMENT INMATE DISCIPLINE AND SPECIAL HOUSING UNITS Inmate Discipline Program § 541.8 Discipline...

  9. 28 CFR 541.8 - Discipline Hearing Officer (DHO) hearing.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Administrative Remedy Program, 28 CFR part 542, subpart B. ... 28 Judicial Administration 2 2011-07-01 2011-07-01 false Discipline Hearing Officer (DHO) hearing... MANAGEMENT INMATE DISCIPLINE AND SPECIAL HOUSING UNITS Inmate Discipline Program § 541.8 Discipline...

  10. 28 CFR 541.8 - Discipline Hearing Officer (DHO) hearing.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... Administrative Remedy Program, 28 CFR part 542, subpart B. ... 28 Judicial Administration 2 2014-07-01 2014-07-01 false Discipline Hearing Officer (DHO) hearing... MANAGEMENT INMATE DISCIPLINE AND SPECIAL HOUSING UNITS Inmate Discipline Program § 541.8 Discipline...

  11. 28 CFR 541.8 - Discipline Hearing Officer (DHO) hearing.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... Administrative Remedy Program, 28 CFR part 542, subpart B. ... 28 Judicial Administration 2 2013-07-01 2013-07-01 false Discipline Hearing Officer (DHO) hearing... MANAGEMENT INMATE DISCIPLINE AND SPECIAL HOUSING UNITS Inmate Discipline Program § 541.8 Discipline...

  12. [An update on bone anchored hearing aids].

    PubMed

    Fries, S; Maire, R; Grosjean, P; George, M; Simon, C; Zaugg, Y

    2014-10-01

    Hearing loss represents a hidden handicapwith various repercussions on development and social life. In the majority of cases, classical hearing aids address most hearing losses. However, the enhancement required for severe deafness frequently involves sound distortions which are very uncomfortable for patients. With the advent of bone anchored hearing aids, conductive hearing losses as well as mixed hearing losses are now better rehabilitated. Recently their indications have been expanded to profound to severe sensorineural hearing loss. The emergence of new materials as well as subcutaneous implants has lead to lessen skin complications and has diminished the aesthetic discomfort of this type of hearing devices.

  13. Universal newborn hearing screening coming soon: "hear's" why.

    PubMed

    Knott, C

    2001-12-01

    Screening the hearing of all newborns, both NICU and well nursery, is rapidly becoming the standard of care. The impetus for universal newborn hearing screening (UNHS) has come from outside the domain of nursing and the newborn nursery. Because nursing will be involved in nearly all aspects of UNHS, nurses need a thorough knowledge base about permanent childhood hearing loss (PCHL) and UNHS. Technology exisits today that can objectively and physiologically screen for this condition at a cost comparable to metabolic screening. PCHL occurs more than twice as often as all the hemoglobinopathies and inborn errors of metabolism combined. Undiagnosed hearing loss often leads to permanent developmental delays. The ultimate goal of early diagnosis and intervention for a congenital hearing loss is to enable the child to develop language and communication skills that correspond to his chronological age and innate cognitive abilities.

  14. Hearing symptoms personal stereos

    PubMed Central

    da Luz, Tiara Santos; Borja, Ana Lúcia Vieira de Freitas

    2012-01-01

    Summary Introduction: Practical and portable the personal stereos if had become almost indispensable accessories in the day the day. Studies disclose that the portable players of music can cause auditory damages in the long run for who hear music in high volume for a drawn out time. Objective: to verify the prevalence of auditory symptoms in users of amplified players and to know its habits of use Method: Observational prospective study of transversal cut carried through in three institutions of education of the city of Salvador BA, being two of public net and one of the private net. 400 students had answered to the questionnaire, of both the sex, between 14 and 30 years that had related the habit to use personal stereos. Results: The symptoms most prevalent had been hyperacusis (43.5%), auricular fullness (30.5%) and humming (27.5), being that the humming is the symptom most present in the population youngest. How much to the daily habits: 62.3% frequent use, 57% in raised intensities, 34% in drawn out periods. An inverse relation between exposition time was verified and the band of age (p = 0,000) and direct with the prevalence of the humming. Conclusion: Although to admit to have knowledge on the damages that the exposition the sound of high intensity can cause the hearing, the daily habits of the young evidence the inadequate use of the portable stereos characterized by long periods of exposition, raised intensities, frequent use and preference for the insertion phones. The high prevalence of symptoms after the use suggests a bigger risk for the hearing of these young. PMID:25991931

  15. Noise-induced hearing loss.

    PubMed

    Catlin, F I

    1986-03-01

    Hearing loss affects 30 million people in the United States; of these, 21 million are over the age of 65 years. This disorder may have several causes: heredity, noise, aging, and disease. Hearing loss from noise has been recognized for centuries but was generally ignored until some time after the Industrial Revolution. Hearing loss from occupational exposure to hazardous noise was identified as a compensable disability by the United States courts in 1948 to 1959. Development of noisy jet engines and supersonic aircraft created additional claims for personal and property damage in the 1950s and 1960s. These conditions led to legislation for noise control in the form of the Occupational Safety and Health Act of 1970 and the Noise Control Act of 1972. Protection of the noise-exposed employee was also an objective of the Hearing Conservation Act of 1971. Subsequent studies have confirmed the benefits of periodic hearing tests for workers exposed to hazardous noise and of otologic evaluation as part of the hearing conservation process. Research studies in laboratory animals, using scanning electron microscopical techniques, have demonstrated that damage to the inner ear and organ of hearing can occur even though subjective (conditioned) response to sound stimuli remains unaffected. Some investigators have employed an epidemiologic approach to identify risk factors and to develop profiles to susceptibility to noise-induced hearing loss. The need for joint involvement of workers and employers in the reduction and control of occupational noise hazards is evident.

  16. Noise-induced hearing loss.

    PubMed

    Catlin, F I

    1986-03-01

    Hearing loss affects 30 million people in the United States; of these, 21 million are over the age of 65 years. This disorder may have several causes: heredity, noise, aging, and disease. Hearing loss from noise has been recognized for centuries but was generally ignored until some time after the Industrial Revolution. Hearing loss from occupational exposure to hazardous noise was identified as a compensable disability by the United States courts in 1948 to 1959. Development of noisy jet engines and supersonic aircraft created additional claims for personal and property damage in the 1950s and 1960s. These conditions led to legislation for noise control in the form of the Occupational Safety and Health Act of 1970 and the Noise Control Act of 1972. Protection of the noise-exposed employee was also an objective of the Hearing Conservation Act of 1971. Subsequent studies have confirmed the benefits of periodic hearing tests for workers exposed to hazardous noise and of otologic evaluation as part of the hearing conservation process. Research studies in laboratory animals, using scanning electron microscopical techniques, have demonstrated that damage to the inner ear and organ of hearing can occur even though subjective (conditioned) response to sound stimuli remains unaffected. Some investigators have employed an epidemiologic approach to identify risk factors and to develop profiles to susceptibility to noise-induced hearing loss. The need for joint involvement of workers and employers in the reduction and control of occupational noise hazards is evident. PMID:2938482

  17. A Hearing Aid Primer 1

    ERIC Educational Resources Information Center

    Yetter, Carol J.

    2009-01-01

    This hearing aid primer is designed to define the differences among the three levels of hearing instrument technology: conventional analog circuit technology (most basic), digitally programmable/analog circuit technology (moderately advanced), and fully digital technology (most advanced). Both moderate and advanced technologies mean that hearing…

  18. Intellectual Disabilities and Hearing Loss

    ERIC Educational Resources Information Center

    Herer, Gilbert R.

    2012-01-01

    Undetected/untreated hearing loss imposes significant limitations upon individuals with intellectual disabilities (ID). It can interfere with cognitive development, impede communicative and social interactions, and limit vocational aspirations. Over the past decade, the hearing of 9961 people with ID was evaluated at Special Olympics sports…

  19. The Stigma of Hearing Loss

    ERIC Educational Resources Information Center

    Wallhagen, Margaret I.

    2010-01-01

    Purpose: To explore dimensions of stigma experienced by older adults with hearing loss and those with whom they frequently communicate to target interventions promoting engagement and positive aging. Design and Methods: This longitudinal qualitative study conducted interviews over 1 year with dyads where one partner had hearing loss. Participants…

  20. Noise-induced hearing loss

    SciTech Connect

    Catlin, F.I.

    1986-03-01

    Hearing loss affects 30 million people in the United States; of these, 21 million are over the age of 65 years. This disorder may have several causes: heredity, noise, aging, and disease. Hearing loss from noise has been recognized for centuries but was generally ignored until some time after the Industrial Revolution. Hearing loss from occupational exposure to hazardous noise was identified as a compensable disability by the United States courts in 1948 to 1959. Development of noisy jet engines and supersonic aircraft created additional claims for personal and property damage in the 1950s and 1960s. These conditions led to legislation for noise control in the form of the Occupational Safety and Health Act of 1970 and the Noise Control Act of 1972. Protection of the noise-exposed employee was also an objective of the Hearing Conservation Act of 1971. Subsequent studies have confirmed the benefits of periodic hearing tests for workers exposed to hazardous noise and of otologic evaluation as part of the hearing conservation process. Research studies in laboratory animals, using scanning electron microscopical techniques, have demonstrated that damage to the inner ear and organ of hearing can occur even though subjective (conditioned) response to sound stimuli remains unaffected. Some investigators have employed an epidemiologic approach to identify risk factors and to develop profiles to susceptibility to noise-induced hearing loss. The need for joint involvement of workers and employers in the reduction and control of occupational noise hazards is evident. 19 references.

  1. Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice

    PubMed Central

    Nolan, Lisa S.; Maier, Hannes; Hermans-Borgmeyer, Irm; Girotto, Giorgia; Ecob, Russell; Pirastu, Nicola; Cadge, Barbara A.; Hübner, Christian; Gasparini, Paolo; Strachan, David P.; Davis, Adrian; Dawson, Sally J.

    2013-01-01

    Since estrogen is thought to protect pre-menopausal women from age-related hearing loss, we investigated whether variation in estrogen-signalling genes is linked to hearing status in the 1958 British Birth Cohort. This analysis implicated the estrogen-related receptor gamma (ESRRG) gene in determining adult hearing function and was investigated further in a total of 6134 individuals in 3 independent cohorts: (i) the 1958 British Birth Cohort; (ii) a London ARHL case-control cohort; and (iii) a cohort from isolated populations of Italy and Silk Road countries. Evidence of an association between the minor allele of single nucleotide polymorphism (SNP) rs2818964 and hearing status was found in females, but not in males in 2 of these cohorts: p = 0.0058 (London ARHL) and p = 0.0065 (Carlantino, Italy). Furthermore, assessment of hearing in Esrrg knock-out mice revealed a mild 25-dB hearing loss at 5 weeks of age. At 12 weeks, average hearing thresholds in female mice(-/-) were 15 dB worse than in males(-/-). Together these data indicate ESRRG plays a role in maintenance of hearing in both humans and mice. PMID:23540940

  2. Articulation index and hearing handicap.

    PubMed

    Holcomb, L M; Nerbonne, M A; Konkle, D F

    2000-04-01

    This investigation examined the relationship between perceived hearing handicap and the Articulation Index (AI) and the extent to which this relationship was influenced by the variables age, gender, degree of hearing loss, and audiometric slope. Subject age, gender, pure-tone thresholds, and scores for the Self-Assessment of Communication (SAC) and the Significant Other Assessment of Communication (SOAC) were extracted retrospectively from 373 patient files (194 males, 179 females). Correlation analysis revealed a significant (p < .01) negative relationship between AI values and both measures of hearing handicap, and also indicated that SAC/SOAC total scores correlated significantly (p < .01) with each other. Partial correlation analyses revealed that degree of hearing loss was the only variable under study that had substantial influence on the strength of AI/hearing handicap correlations. PMID:10783925

  3. Hearing aid malfunction detection system

    NASA Technical Reports Server (NTRS)

    Kessinger, R. L. (Inventor)

    1977-01-01

    A malfunction detection system for detecting malfunctions in electrical signal processing circuits is disclosed. Malfunctions of a hearing aid in the form of frequency distortion and/or inadequate amplification by the hearing aid amplifier, as well as weakening of the hearing aid power supply are detectable. A test signal is generated and a timed switching circuit periodically applies the test signal to the input of the hearing aid amplifier in place of the input signal from the microphone. The resulting amplifier output is compared with the input test signal used as a reference signal. The hearing aid battery voltage is also periodically compared to a reference voltage. Deviations from the references beyond preset limits cause a warning system to operate.

  4. De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

    PubMed Central

    Moteki, Hideaki; Shearer, A Eliot; Izumi, Shuji; Kubota, Yamato; Azaiez, Hela; Booth, Kevin T; Sloan, Christina M; Kolbe, Diana L; Smith, Richard JH; Usami, Shin-ichi

    2015-01-01

    Objective In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene. Methods One hundred ninety-four (194) Japanese subjects from unrelated and families were enrolled in this study. We used targeted genomic enrichment and massively parallel sequencing of all known non-syndromic hearing loss genes for identifying the genetic causes of hearing loss. Results A novel de novo frameshift mutation of POU3F4, to c.727_728insA (p.N244KfsX26) was identified. The patient was a 7-year-old male with congenital progressive hearing loss and inner ear deformity. Although the patient had received a cochlear implant, auditory skills were still limited. The patient also exhibited developmental delays similar to those previously associated with POU3F4 mutation. Conclusion This is the first report of a mutation in POU3F4 causing hearing loss in a Japanese patient without a family history of hearing loss. This study underscores the importance of comprehensive genetic testing of patients with hearing loss for providing accurate prognostic information and guiding the optimal management of patient rehabilitation. PMID:25792666

  5. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

    PubMed

    Azaiez, Hela; Booth, Kevin T; Bu, Fengxiao; Huygen, Patrick; Shibata, Seiji B; Shearer, A Eliot; Kolbe, Diana; Meyer, Nicole; Black-Ziegelbein, E Ann; Smith, Richard J H

    2014-07-01

    Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal-dominant nonsyndromic hearing loss (NSHL), we used OtoSCOPE® to exclude mutations in known deafness genes and then performed segregation mapping and whole-exome sequencing to identify a unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype. TBC1D24 encodes a GTPase-activating protein expressed in the cochlea. Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders. PMID:24729539

  6. 20 CFR 416.1415 - Disability hearing-disability hearing officers.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 20 Employees' Benefits 2 2010-04-01 2010-04-01 false Disability hearing-disability hearing... Reopening of Determinations and Decisions Reconsideration § 416.1415 Disability hearing—disability hearing officers. (a) General. Your disability hearing will be conducted by a disability hearing officer who...

  7. 20 CFR 416.1415 - Disability hearing-disability hearing officers.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 20 Employees' Benefits 2 2011-04-01 2011-04-01 false Disability hearing-disability hearing... Reopening of Determinations and Decisions Reconsideration § 416.1415 Disability hearing—disability hearing officers. (a) General. Your disability hearing will be conducted by a disability hearing officer who...

  8. 20 CFR 416.1415 - Disability hearing-disability hearing officers.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 20 Employees' Benefits 2 2014-04-01 2014-04-01 false Disability hearing-disability hearing... Reopening of Determinations and Decisions Reconsideration § 416.1415 Disability hearing—disability hearing officers. (a) General. Your disability hearing will be conducted by a disability hearing officer who...

  9. 20 CFR 416.1415 - Disability hearing-disability hearing officers.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 20 Employees' Benefits 2 2013-04-01 2013-04-01 false Disability hearing-disability hearing... Reopening of Determinations and Decisions Reconsideration § 416.1415 Disability hearing—disability hearing officers. (a) General. Your disability hearing will be conducted by a disability hearing officer who...

  10. 20 CFR 416.1415 - Disability hearing-disability hearing officers.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 20 Employees' Benefits 2 2012-04-01 2012-04-01 false Disability hearing-disability hearing... Reopening of Determinations and Decisions Reconsideration § 416.1415 Disability hearing—disability hearing officers. (a) General. Your disability hearing will be conducted by a disability hearing officer who...

  11. [Advances in hereditary hearing loss caused by TMC1 mutations].

    PubMed

    Wu, Kaiwen; Wang, Hongyang; Wang, Qiuju

    2016-03-01

    Hearing loss is the most frequent sensorineural disorder worldwild, among which about 50% are caused by genetic factors. TMC1 is one of the common genes causing hereditary hearing loss. TMC1 mutations can cause pre-lingual profound/severe autosomal recessive (DFNB7/11) and post-lingual progressive autosomal dominant (DFNA36) non-syndromic hearing loss. Murine models studies show that TMC1, 2 are expressed in cochlea inner and outer hair cells and maintain normal mechanoelectrical transduction (MET) functions of the hair cells. A growing number of evidence indicate that TMC1, 2 are components of the MET complex. It is necessary to definite the precise distribution and exact function of TMC1, 2, because it is important to understand the regulating mechanism of auditory function. PMID:27033582

  12. 32 CFR 195.10 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... NONDISCRIMINATION IN FEDERALLY ASSISTED PROGRAMS OF THE DEPARTMENT OF DEFENSE-EFFECTUATION OF TITLE VI OF THE CIVIL RIGHTS ACT OF 1964 § 195.10 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing... shall be deemed to be a waiver of the right to a hearing under section 602 of the......

  13. 32 CFR 195.10 - Hearings.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... NONDISCRIMINATION IN FEDERALLY ASSISTED PROGRAMS OF THE DEPARTMENT OF DEFENSE-EFFECTUATION OF TITLE VI OF THE CIVIL RIGHTS ACT OF 1964 § 195.10 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing... shall be deemed to be a waiver of the right to a hearing under section 602 of the......

  14. 32 CFR 195.10 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... NONDISCRIMINATION IN FEDERALLY ASSISTED PROGRAMS OF THE DEPARTMENT OF DEFENSE-EFFECTUATION OF TITLE VI OF THE CIVIL RIGHTS ACT OF 1964 § 195.10 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing... shall be deemed to be a waiver of the right to a hearing under section 602 of the......

  15. 42 CFR 423.1040 - Joint hearings.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 3 2014-10-01 2014-10-01 false Joint hearings. 423.1040 Section 423.1040 Public... Penalties § 423.1040 Joint hearings. When two or more affected parties have requested hearings and the same... and place for the prehearing conference or hearing and conduct all proceedings jointly. If...

  16. 42 CFR 423.1040 - Joint hearings.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 3 2013-10-01 2013-10-01 false Joint hearings. 423.1040 Section 423.1040 Public... Penalties § 423.1040 Joint hearings. When two or more affected parties have requested hearings and the same... and place for the prehearing conference or hearing and conduct all proceedings jointly. If...

  17. 42 CFR 423.1040 - Joint hearings.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 3 2012-10-01 2012-10-01 false Joint hearings. 423.1040 Section 423.1040 Public... Penalties § 423.1040 Joint hearings. When two or more affected parties have requested hearings and the same... and place for the prehearing conference or hearing and conduct all proceedings jointly. If...

  18. 21 CFR 1313.51 - Hearings generally.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    .... 100-690), by 21 CFR 1313.52-1313.57, and by the procedures for administrative hearings under the... 21 Food and Drugs 9 2012-04-01 2012-04-01 false Hearings generally. 1313.51 Section 1313.51 Food... AND LIST II CHEMICALS Hearings § 1313.51 Hearings generally. In any case where a regulated...

  19. 32 CFR 723.5 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 32 National Defense 5 2011-07-01 2011-07-01 false Hearing. 723.5 Section 723.5 National Defense... § 723.5 Hearing. (a) Convening of board. The Board will convene, recess and adjourn at the call of the Chair or Acting Chair. (b) Conduct of hearing. (1) The hearing shall be conducted by the Chair or...

  20. 9 CFR 202.5 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 9 Animals and Animal Products 2 2011-01-01 2011-01-01 false Hearing. 202.5 Section 202.5 Animals... STOCKYARDS ACT Rules of Practice Applicable to Rate Proceedings § 202.5 Hearing. The hearing will be oral unless all parties waive oral hearing. It will be written if not oral. Notice of the date, time and...

  1. 29 CFR 101.34 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 2 2010-07-01 2010-07-01 false Hearing. 101.34 Section 101.34 Labor Regulations Relating... Section 10(k) of the Act § 101.34 Hearing. If the parties have not adjusted the dispute or agreed upon methods of voluntary adjustment, a hearing, usually open to the public, is held before a hearing...

  2. 45 CFR 33.6 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 1 2011-10-01 2011-10-01 false Hearings. 33.6 Section 33.6 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION SALARY OFFSET § 33.6 Hearings. (a) Petitions for hearing. (1) To request a hearing concerning the existence or amount of the debt or the...

  3. 49 CFR 240.409 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Hearings. 240.409 Section 240.409 Transportation... Hearings. (a) An administrative hearing for a locomotive engineer qualification petition shall be conducted... conduct of the hearing for the purpose of achieving a prompt and fair determination of all material...

  4. 38 CFR 18.9 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2011-07-01 2011-07-01 false Hearings. 18.9 Section 18... THE CIVIL RIGHTS ACT OF 1964 General § 18.9 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is required by § 18.8(c), reasonable notice shall be given by registered...

  5. 15 CFR 904.103 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 15 Commerce and Foreign Trade 3 2011-01-01 2011-01-01 false Hearing. 904.103 Section 904.103 Commerce and Foreign Trade Regulations Relating to Commerce and Foreign Trade (Continued) NATIONAL OCEANIC... Penalties § 904.103 Hearing. (a) Any hearing request under § 904.102(a)(3) is governed by the hearing...

  6. 5 CFR 1639.23 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 5 Administrative Personnel 3 2011-01-01 2011-01-01 false Hearing. 1639.23 Section 1639.23... Hearing. (a) Request for hearing. Except as provided in paragraph (b) of this section, an employee who desires a hearing concerning the existence or amount of the debt or the proposed offset schedule must...

  7. 15 CFR 280.214 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 15 Commerce and Foreign Trade 1 2011-01-01 2011-01-01 false Hearings. 280.214 Section 280.214... Enforcement § 280.214 Hearings. (a) Scheduling. The administrative law judge, by agreement with the parties or upon notice to all parties of not less than 30 days, will schedule a hearing. All hearings will be...

  8. 10 CFR 2.1405 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Hearing. 2.1405 Section 2.1405 Energy NUCLEAR REGULATORY... with Oral Hearings § 2.1405 Hearing. (a) No later than twenty (20) days after the conclusion of the prehearing conference, the presiding officer shall hold a hearing on any contention that remains in...

  9. 45 CFR 1110.9 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 45 Public Welfare 3 2010-10-01 2010-10-01 false Hearings. 1110.9 Section 1110.9 Public Welfare... NONDISCRIMINATION IN FEDERALLY ASSISTED PROGRAMS § 1110.9 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is required by § 1110.8(c), reasonable notice shall be given by registered...

  10. 15 CFR 719.14 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 15 Commerce and Foreign Trade 2 2011-01-01 2011-01-01 false Hearings. 719.14 Section 719.14... Hearings. (a) Scheduling. Upon receipt of a written and dated request for a hearing, the ALJ shall, by agreement with all the parties or upon notice to all parties of at least 30 days, schedule a hearing....

  11. 5 CFR 1639.23 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 5 Administrative Personnel 3 2010-01-01 2010-01-01 false Hearing. 1639.23 Section 1639.23... Hearing. (a) Request for hearing. Except as provided in paragraph (b) of this section, an employee who desires a hearing concerning the existence or amount of the debt or the proposed offset schedule must...

  12. 34 CFR 668.116 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 34 Education 3 2011-07-01 2011-07-01 false Hearing. 668.116 Section 668.116 Education Regulations... Program Review Determinations § 668.116 Hearing. (a) A hearing is a process conducted by the hearing official whereby an orderly presentation of arguments and evidence is made by the parties. (b) The...

  13. 20 CFR 901.44 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 20 Employees' Benefits 3 2011-04-01 2011-04-01 false Hearings. 901.44 Section 901.44 Employees... § 901.44 Hearings. (a) In general. The Administrative Law Judge shall preside at the hearing on a complaint for the suspension or termination of an enrolled actuary. Hearings shall be...

  14. 18 CFR 156.10 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 18 Conservation of Power and Water Resources 1 2010-04-01 2010-04-01 false Hearings. 156.10... GAS ACT § 156.10 Hearings. The Commission will schedule each application for public hearing at the... protests or petitions to intervene, issue the requested order without hearing....

  15. 39 CFR 3001.30 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 39 Postal Service 1 2011-07-01 2011-07-01 false Hearings. 3001.30 Section 3001.30 Postal Service... § 3001.30 Hearings. (a) How initiated. Hearings for the purpose of taking evidence shall be initiated by... hearings shall be held before the Commission sitting en banc, or a duly designated presiding officer....

  16. 75 FR 12584 - Sunshine Act; Public Hearing

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-16

    ... CORPORATION Sunshine Act; Public Hearing March 17, 2010. OPIC's Sunshine Act notice of its Public Hearing in... record; therefore, OPIC's public hearing scheduled for 3 p.m., March 17, 2010 in conjunction with OPIC's...: Information on the hearing cancellation may be obtained from Connie M. Downs at (202) 336-8438, via...

  17. 12 CFR 268.108 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 3 2010-01-01 2010-01-01 false Hearings. 268.108 Section 268.108 Banks and... REGARDING EQUAL OPPORTUNITY Board Program To Promote Equal Opportunity § 268.108 Hearings. (a) When a complainant requests a hearing, the Commission shall appoint an administrative judge to conduct a hearing...

  18. 75 FR 67145 - Sunshine Act: Public Hearing

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-01

    ... CORPORATION Sunshine Act: Public Hearing TIME AND DATE: 2 p.m., Wednesday, November 24, 2010. PLACE: Offices...: Hearing open to the Public at 2 p.m. PURPOSE: Public Hearing in conjunction with each meeting of OPIC's... the Corporation. pROCEDURES: Individuals wishing to address the hearing orally must provide...

  19. 12 CFR 308.142 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 12 Banks and Banking 4 2011-01-01 2011-01-01 false Hearing. 308.142 Section 308.142 Banks and... Exchange Act of 1934 § 308.142 Hearing. (a) Proceedings are informal. Formal rules of evidence, the... Local Rules shall not apply to hearings under this subpart. (b) Hearing Procedure. (1) Parties to...

  20. 5 CFR 831.1106 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 5 Administrative Personnel 2 2010-01-01 2010-01-01 false Hearing. 831.1106 Section 831.1106...) RETIREMENT Prohibition on Payments of Annuities § 831.1106 Hearing. (a) OPM's hearing examiner shall preside at any hearing held pursuant to this subpart, unless OPM designates another presiding officer....

  1. 18 CFR 1307.11 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 18 Conservation of Power and Water Resources 2 2011-04-01 2011-04-01 false Hearings. 1307.11... WITH RESPECT TO HANDICAP § 1307.11 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is required by § 1307.10, reasonable notice shall be given by registered or certified mail,...

  2. 39 CFR 775.14 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 39 Postal Service 1 2011-07-01 2011-07-01 false Hearings. 775.14 Section 775.14 Postal Service....14 Hearings. (a) Public hearings must be held whenever there is: (1) Substantial environmental controversy concerning a proposed action and a request for a hearing by any responsible individual...

  3. 19 CFR 351.310 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearings. 351.310 Section 351.310 Customs Duties... Argument § 351.310 Hearings. (a) Introduction. This section sets forth the procedures for requesting a hearing, indicates that the Secretary may consolidate hearings, and explains when the Secretary may...

  4. 22 CFR 209.9 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 22 Foreign Relations 1 2011-04-01 2011-04-01 false Hearings. 209.9 Section 209.9 Foreign Relations... INTERNATIONAL DEVELOPMENT-EFFECTUATION OF TITLE VI OF THE CIVIL RIGHTS ACT OF 1964 § 209.9 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is required by § 209.8(c), reasonable...

  5. 41 CFR 50-203.8 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 41 Public Contracts and Property Management 1 2011-07-01 2009-07-01 true Hearing. 50-203.8 Section...-Healey Public Contracts Act § 50-203.8 Hearing. (a) The hearing for the purpose of taking evidence upon a... law judge may be designated to take his place. Such hearings shall be open to the public...

  6. 5 CFR 1215.5 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... Federal Claims Collection Standards 4 CFR 102.3(c). The burden shall be on the employee to demonstrate... 5 Administrative Personnel 3 2011-01-01 2011-01-01 false Hearing. 1215.5 Section 1215.5... § 1215.5 Hearing. (a) Request for hearing. (1) An employee must file a petition for a hearing...

  7. 49 CFR 209.321 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Hearing. 209.321 Section 209.321 Transportation... TRANSPORTATION RAILROAD SAFETY ENFORCEMENT PROCEDURES Disqualification Procedures § 209.321 Hearing. (a) Upon receipt of a hearing request complying with § 209.311, an administrative hearing for review of a notice...

  8. 15 CFR 766.13 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 15 Commerce and Foreign Trade 2 2011-01-01 2011-01-01 false Hearings. 766.13 Section 766.13... PROCEEDINGS § 766.13 Hearings. (a) Scheduling. The administrative law judge, by agreement with the parties or upon notice to all parties of not less than 30 days, will schedule a hearing. All hearings will be...

  9. 29 CFR 30.16 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 29 Labor 1 2011-07-01 2011-07-01 false Hearings. 30.16 Section 30.16 Labor Office of the Secretary of Labor EQUAL EMPLOYMENT OPPORTUNITY IN APPRENTICESHIP AND TRAINING § 30.16 Hearings. (a) Within 10 days after receiving a request for a hearing, the Secretary shall designate a hearing officer....

  10. 19 CFR 207.66 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearing. 207.66 Section 207.66 Customs Duties... EXPORTS TO THE UNITED STATES Five-Year Reviews § 207.66 Hearing. (a) In general. The Commission shall hold a hearing in each full review. The date of the hearing shall be specified in the scheduling...

  11. 19 CFR 207.112 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearings. 207.112 Section 207.112 Customs Duties... and Committee Proceedings § 207.112 Hearings. (a) Purpose of and scheduling of hearings. An opportunity for a hearing before an administrative law judge shall be provided for each action initiated...

  12. 29 CFR 301.7 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 2 2010-07-01 2010-07-01 false Hearings. 301.7 Section 301.7 Labor Regulations Relating to Labor NATIONAL RAILROAD ADJUSTMENT BOARD RULES OF PROCEDURE § 301.7 Hearings. (a) Oral hearings will be... and date of the hearing. (b) The parties are, however, charged with the duty and responsibility...

  13. 45 CFR 96.51 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 1 2011-10-01 2011-10-01 false Hearings. 96.51 Section 96.51 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION BLOCK GRANTS Enforcement § 96.51 Hearings. (a... notice of the order and an opportunity for a hearing. Opportunity for a hearing will not be...

  14. 19 CFR 354.12 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 19 Customs Duties 3 2010-04-01 2010-04-01 false Hearing. 354.12 Section 354.12 Customs Duties... ANTIDUMPING OR COUNTERVAILING DUTY ADMINISTRATIVE PROTECTIVE ORDER § 354.12 Hearing. (a) Scheduling of hearing. The presiding official will schedule the hearing at a reasonable time, date, and place, which will...

  15. 22 CFR 18.15 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 22 Foreign Relations 1 2011-04-01 2011-04-01 false Hearings. 18.15 Section 18.15 Foreign Relations... Enforcement Proceedings § 18.15 Hearings. Hearings shall be stenographically recorded and transcribed and the testimony of witnesses shall be taken under oath or affirmation. Hearings will be closed unless an...

  16. 45 CFR 1110.9 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 3 2011-10-01 2011-10-01 false Hearings. 1110.9 Section 1110.9 Public Welfare... NONDISCRIMINATION IN FEDERALLY ASSISTED PROGRAMS § 1110.9 Hearings. (a) Opportunity for hearing. Whenever an opportunity for a hearing is required by § 1110.8(c), reasonable notice shall be given by registered...

  17. 22 CFR 18.15 - Hearings.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Hearings. 18.15 Section 18.15 Foreign Relations... Enforcement Proceedings § 18.15 Hearings. Hearings shall be stenographically recorded and transcribed and the testimony of witnesses shall be taken under oath or affirmation. Hearings will be closed unless an...

  18. 49 CFR 386.56 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 49 Transportation 5 2011-10-01 2011-10-01 false Hearings. 386.56 Section 386.56 Transportation... and Hearings § 386.56 Hearings. (a) As soon as practicable after his/her appointment, the administrative law judge shall issue an order setting the date, time, and place for the hearing. The order...

  19. Learning Aids for the Hearing Impaired Child.

    ERIC Educational Resources Information Center

    National Learning Resource Center of Pennsylvania, King of Prussia.

    Intended for parents, the booklet provides a practical guide to the types of learning aids that are helpful to the hearing impaired child. Sections cover the following: an explanation of residual hearing; types of hearing aids and hearing aid equipment; language development aids (brief descriptions are provided for materials in beginning language,…

  20. 21 CFR 16.60 - Hearing procedure.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 1 2012-04-01 2012-04-01 false Hearing procedure. 16.60 Section 16.60 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL REGULATORY HEARING BEFORE THE FOOD AND DRUG ADMINISTRATION Procedures for Regulatory Hearing § 16.60 Hearing procedure....

  1. 21 CFR 16.60 - Hearing procedure.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 1 2013-04-01 2013-04-01 false Hearing procedure. 16.60 Section 16.60 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL REGULATORY HEARING BEFORE THE FOOD AND DRUG ADMINISTRATION Procedures for Regulatory Hearing § 16.60 Hearing procedure....

  2. 13 CFR 134.222 - Oral hearing.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 13 Business Credit and Assistance 1 2013-01-01 2013-01-01 false Oral hearing. 134.222 Section 134... BEFORE THE OFFICE OF HEARINGS AND APPEALS Rules of Practice § 134.222 Oral hearing. (a) Availability. A party may obtain an oral hearing only if: (1) It is required by regulation; or (2) Following the...

  3. 13 CFR 134.222 - Oral hearing.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 13 Business Credit and Assistance 1 2012-01-01 2012-01-01 false Oral hearing. 134.222 Section 134... BEFORE THE OFFICE OF HEARINGS AND APPEALS Rules of Practice § 134.222 Oral hearing. (a) Availability. A party may obtain an oral hearing only if: (1) It is required by regulation; or (2) Following the...

  4. 13 CFR 134.222 - Oral hearing.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 13 Business Credit and Assistance 1 2010-01-01 2010-01-01 false Oral hearing. 134.222 Section 134... BEFORE THE OFFICE OF HEARINGS AND APPEALS Rules of Practice for Most Cases § 134.222 Oral hearing. (a) Availability. A party may obtain an oral hearing only if: (1) It is required by regulation; or (2)...

  5. 13 CFR 134.222 - Oral hearing.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 13 Business Credit and Assistance 1 2014-01-01 2014-01-01 false Oral hearing. 134.222 Section 134... BEFORE THE OFFICE OF HEARINGS AND APPEALS Rules of Practice § 134.222 Oral hearing. (a) Availability. A party may obtain an oral hearing only if: (1) It is required by regulation; or (2) Following the...

  6. 13 CFR 134.222 - Oral hearing.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 13 Business Credit and Assistance 1 2011-01-01 2011-01-01 false Oral hearing. 134.222 Section 134... BEFORE THE OFFICE OF HEARINGS AND APPEALS Rules of Practice § 134.222 Oral hearing. (a) Availability. A party may obtain an oral hearing only if: (1) It is required by regulation; or (2) Following the...

  7. 14 CFR § 1250.108 - Hearings.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... PROGRAMS OF NASA-EFFECTUATION OF TITLE VI OF THE CIVIL RIGHTS ACT OF 1964 § 1250.108 Hearings. (a... of hearing. Hearings shall be held at NASA Headquarters in Washington, DC, at a time fixed by the... NASA requires that another place be selected. Hearings shall be held before the Administrator, or,...

  8. 45 CFR 16.11 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... would be significantly aided by a hearing, or if the Board determines that its decisionmaking otherwise... at the hearing; scheduling the hearing; and any other matter that may aid in resolving the appeal... 45 Public Welfare 1 2010-10-01 2010-10-01 false Hearing. 16.11 Section 16.11 Public...

  9. 28 CFR 104.33 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Hearing. 104.33 Section 104.33 Judicial..., Assistance, and Review Procedures § 104.33 Hearing. (a) Supplemental submissions. The claimant may prepare... Supplemental Submissions. (b) Conduct of hearings. Hearings shall be before the Special Master or his...

  10. 20 CFR 725.460 - Consolidated hearings.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 20 Employees' Benefits 3 2011-04-01 2011-04-01 false Consolidated hearings. 725.460 Section 725... FEDERAL MINE SAFETY AND HEALTH ACT, AS AMENDED Hearings § 725.460 Consolidated hearings. When two or more... on his or her own motion, order that a consolidated hearing be conducted. Where consolidated...

  11. 20 CFR 725.460 - Consolidated hearings.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Consolidated hearings. 725.460 Section 725... MINE SAFETY AND HEALTH ACT, AS AMENDED Hearings § 725.460 Consolidated hearings. When two or more... on his or her own motion, order that a consolidated hearing be conducted. Where consolidated...

  12. 7 CFR 900.56 - Consolidated hearings.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 8 2011-01-01 2011-01-01 false Consolidated hearings. 900.56 Section 900.56... Consolidated hearings. At the discretion of the judge, hearings upon two or more petitions pertaining to the same order may be consolidated, and the evidence taken at such consolidated hearing may be embodied...

  13. 7 CFR 900.56 - Consolidated hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Consolidated hearings. 900.56 Section 900.56... Consolidated hearings. At the discretion of the judge, hearings upon two or more petitions pertaining to the same order may be consolidated, and the evidence taken at such consolidated hearing may be embodied...

  14. 32 CFR 1697.5 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 32 National Defense 6 2010-07-01 2010-07-01 false Hearing. 1697.5 Section 1697.5 National Defense Other Regulations Relating to National Defense SELECTIVE SERVICE SYSTEM SALARY OFFSET § 1697.5 Hearing. (a) Request for hearing. (1) An employee must file a petition for a hearing in accordance with the instructions outlined in the agency's notice...

  15. 39 CFR 955.9 - Hearing election.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 39 Postal Service 1 2011-07-01 2011-07-01 false Hearing election. 955.9 Section 955.9 Postal... CONTRACT APPEALS § 955.9 Hearing election. Link to an amendment published at 76 FR 37660, June 28, 2011. As... hearing as prescribed in § 955.12. If a hearing is elected, the election should state where and when...

  16. 37 CFR 251.41 - Formal hearings.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... ARBITRATION ROYALTY PANEL RULES AND PROCEDURES COPYRIGHT ARBITRATION ROYALTY PANEL RULES OF PROCEDURE Procedures of Copyright Arbitration Royalty Panels § 251.41 Formal hearings. (a) The formal hearings that... distribution hearings. All parties intending to participate in a hearing of a Copyright Arbitration...

  17. 10 CFR 110.102 - Hearing docket.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 2 2010-01-01 2010-01-01 false Hearing docket. 110.102 Section 110.102 Energy NUCLEAR REGULATORY COMMISSION (CONTINUED) EXPORT AND IMPORT OF NUCLEAR EQUIPMENT AND MATERIAL Hearings § 110.102 Hearing docket. For each hearing, the Secretary will maintain a docket which will include the...

  18. 10 CFR 110.100 - Public hearings.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 2 2010-01-01 2010-01-01 false Public hearings. 110.100 Section 110.100 Energy NUCLEAR REGULATORY COMMISSION (CONTINUED) EXPORT AND IMPORT OF NUCLEAR EQUIPMENT AND MATERIAL Hearings § 110.100 Public hearings. Hearings under this part will be public unless the Commission directs otherwise....

  19. 45 CFR 160.534 - The hearing.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 1 2011-10-01 2011-10-01 false The hearing. 160.534 Section 160.534 Public... GENERAL ADMINISTRATIVE REQUIREMENTS Procedures for Hearings § 160.534 The hearing. (a) The ALJ must conduct a hearing on the record in order to determine whether the respondent should be found liable...

  20. 45 CFR 160.534 - The hearing.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 45 Public Welfare 1 2014-10-01 2014-10-01 false The hearing. 160.534 Section 160.534 Public... GENERAL ADMINISTRATIVE REQUIREMENTS Procedures for Hearings § 160.534 The hearing. (a) The ALJ must conduct a hearing on the record in order to determine whether the respondent should be found liable...

  1. 22 CFR 51.71 - The hearing.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 22 Foreign Relations 1 2011-04-01 2011-04-01 false The hearing. 51.71 Section 51.71 Foreign... and Revocations § 51.71 The hearing. (a) The Department will name a hearing officer, who will make findings of fact and submit recommendations based on the record of the hearing as defined in § 51.72 to...

  2. 45 CFR 160.534 - The hearing.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 45 Public Welfare 1 2013-10-01 2013-10-01 false The hearing. 160.534 Section 160.534 Public... GENERAL ADMINISTRATIVE REQUIREMENTS Procedures for Hearings § 160.534 The hearing. (a) The ALJ must conduct a hearing on the record in order to determine whether the respondent should be found liable...

  3. 22 CFR 51.71 - The hearing.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 22 Foreign Relations 1 2013-04-01 2013-04-01 false The hearing. 51.71 Section 51.71 Foreign... and Revocations § 51.71 The hearing. (a) The Department will name a hearing officer, who will make findings of fact and submit recommendations based on the record of the hearing as defined in § 51.72 to...

  4. 22 CFR 51.71 - The hearing.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 22 Foreign Relations 1 2014-04-01 2014-04-01 false The hearing. 51.71 Section 51.71 Foreign... and Revocations § 51.71 The hearing. (a) The Department will name a hearing officer, who will make findings of fact and submit recommendations based on the record of the hearing as defined in § 51.72 to...

  5. 45 CFR 160.534 - The hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false The hearing. 160.534 Section 160.534 Public... GENERAL ADMINISTRATIVE REQUIREMENTS Procedures for Hearings § 160.534 The hearing. (a) The ALJ must conduct a hearing on the record in order to determine whether the respondent should be found liable...

  6. 22 CFR 51.71 - The hearing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false The hearing. 51.71 Section 51.71 Foreign... and Revocations § 51.71 The hearing. (a) The Department will name a hearing officer, who will make findings of fact and submit recommendations based on the record of the hearing as defined in § 51.72 to...

  7. Play It by Ear. Hearing Conservation Curriculum.

    ERIC Educational Resources Information Center

    Olson, Dianne R.

    This curriculum was designed to help teachers teach their fourth-grade students about hearing and the effects of loud noises on hearing. The program describes the human ear and how it works, explains the health effects of noise, and offers ways for students to protect their hearing from unsafe noise levels. Students are taught how hearing is…

  8. 17 CFR 204.64 - Hearing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... Chief Administrative Law Judge shall select, pursuant to 17 CFR 200.30-10, the administrative law judge... decision by a hearing official pursuant to 17 CFR 201.431(c), a decision by a hearing official shall become... Administrative Wage Garnishment § 204.64 Hearing. (a) Request for hearing. The Commission will order a...

  9. 17 CFR 204.64 - Hearing.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... Chief Administrative Law Judge shall select, pursuant to 17 CFR 200.30-10, the administrative law judge... decision by a hearing official pursuant to 17 CFR 201.431(c), a decision by a hearing official shall become... Administrative Wage Garnishment § 204.64 Hearing. (a) Request for hearing. The Commission will order a...

  10. Occupational Hearing Loss in Korea

    PubMed Central

    2010-01-01

    In this article, current status of noise exposure in workplaces, trend of workers with noise-induced hearing loss (NIHL), and prevalence of NIHL in workers by industry and job category in Korea were reviewed. In addition, trends of research on the audiological effects such as hearing loss from noise and occupational hearing loss from non-noise in Korea were addressed through reports in industrial audiology. Though noise exposure level has improved, noise still shows the highest rate of cases exceeding exposure limit among workplace hazards. NIHL is the most common occupational disease except work-related disease such as musculoskeletal disorders and cerebrovascular diseases, and NIHL prevalence is thought to be much higher than reported in official publications. Noise affecting hearing comes from various sources such as workplaces, military settings, areas with exposure to high noise, and specific noise sources. There is also occupational hearing loss by non-noise including chemicals such as organic solvents and heavy metals, barotrauma, and trauma due to welding spark. Noise affects daily life through audiological effects such as hearing loss and tinnitus, non-audiological physical effects (e.g., cardiovascular), and psychosocial and behavioral effects. Development of systematic and comprehensive hearing conservation programs for lowering the noise level in workplaces and preventing the NIHL, and preparation of technological, administrative system for its settlement at workplace are urgently needed. PMID:21258593

  11. Hearing Loss in Palliative Care

    PubMed Central

    Jain, Nelia; Wallhagen, Margaret L.

    2015-01-01

    Abstract Background: Age-related hearing loss is remarkably common, affecting more than 60% of adults over the age of 75. Moreover, hearing loss has detrimental effects on quality of life and communication, outcomes that are central to palliative care. Despite its high prevalence, there is remarkably little written on the impact of hearing loss in the palliative care literature. Objective: The objective was to emphasize its importance and the need for further study. We use a case as a springboard for discussing what is known and unknown about the epidemiology, presentation, screening methodologies, and treatment strategies for age-related hearing loss in palliative care. Discussion: The case describes a 65-year-old man with acute myelogenous leukemia (AML) that has progressed despite treatment. No concerns are raised about communication challenges during conversations between the palliative care team and the patient in his quiet room. However, in the midst of a family meeting, shortly after discussing prognosis, the patient reports that he cannot hear what anyone is saying. Conclusion: We describe simple methods of screening patients for hearing loss, and suggest that practical approaches should be used universally in patient encounters. These include facing the patient, pitching one's voice low, using a pocket talker, and creating a hearing-friendly environment when planning a family or group meeting. PMID:25867966

  12. Hearing loss in shipyard employees

    PubMed Central

    Alexopoulos, Evangelos C.; Tsouvaltzidou, Thomaella

    2015-01-01

    Background: Noise-induced hearing loss (NIHL) is one of the most prevalent occupational illnesses, with a higher incidence in the heavy industry. Objectives of the Study: The aim of this study is to investigate the prevalence of NIHL in Greece and explore its correlations with other job and individual-related factors. Materials and Methods: Questionnaires were administered, and audiograms were conducted to 757 employees of a shipyard company in Greece, both white- and blue-collar, during the period 2006–2009. A modification of the 1979' equation of the American Academy of Otolaryngology was used to calculate hearing loss. Statistical analysis was conducted by means of the SPSS v. 17. Results: A 27.1% of the employees were hearing handicap. Hearing loss was correlated with age, past medical history of ear disease (Meniere's disease, acoustic neuroma, otosclerosis) or injury, hyperlipidemia, job title and level of education. A few questions on subjective hearing ability and symptoms showed strong discriminatory power of hearing pathology. Conclusions: The results of this study emphasize the burden of disease in the shipyard industry, and the need for continuous monitoring, implementation of preventive measures and hearing conservation programs. PMID:26023266

  13. Hearing and underwater noise exposure

    NASA Astrophysics Data System (ADS)

    Smith, P. F.

    1985-08-01

    Exposure of divers to intense noise in water is increasing, yet there is no general hearing conservation standard for such exposures. This paper reviews three theories of underwater hearing as well as empirical data in order to identify some requirements that an underwater conservation standard must meet. Among the problems considered are hearing sensitivity in water, the frequency and dynamic ranges of the water-immersed ear, and nonauditory effects of underwater sound. It is concluded that: first, no well developed theoretical basis exists for extrapolating hearing conservation standards for airborne noise to the underwater situation; second, the empirical data on underwater hearing suggest that the frequency range covered by an underwater hearing conservation standard must be broader than is the case in air; third, in order to establish a general hearing conservation standard for underwater noise exposure further research is required on the dynamic range of the ear in water; fourth, underwater noise exposure may involve hazards to other body systems than the ear; and fifth, some exposure conditions may interfere with job performance of divers.

  14. Hearing loss in Australian divers.

    PubMed

    Edmonds, C; Freeman, P

    1985-11-11

    Permanent hearing loss of the sensorineural type has been demonstrated to be an occupational hazard of professional SCUBA divers. An audiometric survey was performed on a group of professional abalone divers, all of whom had experienced excessive exposure to dysbaric conditions. The results of this survey revealed that, even allowing for the very liberal requirements of the Australian Standard for divers, over 60% had unacceptable sensorineural, high frequency deafness. In half these cases deafness was unilateral, and in half bilateral. Making allowance for age, two-thirds had hearing loss to a degree which is compensable, according to the method of the National Acoustic Laboratories (1974) for determining proportional loss of hearing.

  15. 39 CFR 964.4 - Hearings.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 39 Postal Service 1 2011-07-01 2011-07-01 false Hearings. 964.4 Section 964.4 Postal Service... DELIVERY PURSUANT TO 39 U.S.C. 3003, 3004 § 964.4 Hearings. Hearings are held at 2101 Wilson Boulevard... than 10 days prior to the date fixed for the hearing, a party may file a request that a hearing be...

  16. The neuromechanics of hearing

    NASA Astrophysics Data System (ADS)

    Araya, Mussie K.; Brownell, William E.

    2015-12-01

    Hearing requires precise detection and coding of acoustic signals by the inner ear and equally precise communication of the information through the auditory brainstem. A membrane based motor in the outer hair cell lateral wall contributes to the transformation of sound into a precise neural code. Structural, molecular and energetic similarities between the outer hair cell and auditory brainstem neurons suggest that a similar membrane based motor may contribute to signal processing in the auditory CNS. Cooperative activation of voltage gated ion channels enhances neuronal temporal processing and increases the upper frequency limit for phase locking. We explore the possibility that membrane mechanics contribute to ion channel cooperativity as a consequence of the nearly instantaneous speed of electromechanical signaling and the fact that membrane composition and mechanics modulate ion channel function.

  17. Childhood Hearing Health: Educating for Prevention of Hearing Loss

    PubMed Central

    Lacerda, Adriana Bender Moreira; Gonçalves, Claudia Giglio de Oliveira; Lacerda, Giselle; Lobato, Diolén Conceição Barros; Santos, Luciana; Moreira, Aline Carlezzo; Ribas, Angela

    2014-01-01

    Introduction The presence of noise in our society has attracted the attention of health professionals, including speech-language pathologists, who have been charged along with educators with developing hearing conservation programs in schools. Objective To describe the results of three strategies for awareness and hearing preservation in first to fourth grades in public elementary schools. Methods The level of environmental noise in classrooms was assessed, and 638 elementary school students from first to fourth grades, 5 to 10 years of age, were audiologically evaluated. After the evaluations, educational activities were presented to children and educators. Results The noise level in the classroom ranged from 71.8 to 94.8 A-weighted decibels. The environment of the classroom was found to promote sound reverberation, which hinders communication. Thirty-two students (5.1%) presented hearing alterations. Conclusion The application of strategies for a hearing conservation program at the school showed that noise is present in the room, and hearing loss, sometimes silent, affects schoolchildren. Students and teachers were aware that hearing problems can be prevented. Avoiding exposure to noise and improving the acoustics in classrooms are essential. PMID:25992146

  18. Idiopathic sensorineural hearing loss in the only hearing ear.

    PubMed

    Berrettini, S; De Vito, A; Bruschini, L; Fortunato, S; Forli, F

    2016-04-01

    A retrospective chart review was used for 31 patients with sudden, progressive or fluctuating sensorineural hearing loss (SHL) in the only hearing ear who had been consecutively evaluated at the ENT, Audiology and Phoniatrics Unit of the University of Pisa. The group of patients was evaluated with a complete history review, clinical evaluation, imaging exam (MRI, CT), audiologic tests (tone and speech audiometry, tympanometry, study of stapedial reflexes, ABR and otoacoustic emission) evaluation. In order to exclude genetic causes, patients were screened for CX 26 and CX30 mutations and for mitochondrial DNA mutation A1555G. Patients with sudden or rapidly progressive SHL in the only hearing ear were treated with osmotic diuretics and corticosteroids. In patients who did not respond to intravenous therapy we performed intratympanic injections of corticosteroid. Hearing aids were fitted when indicated and patients who developed severe to profound SHL were scheduled for cochlear implant surgery. The aim of this study is to report and discuss the epidemiology, aetiopathogenesis, therapy and clinical characteristic of patients affected by SHL in the only hearing hear and to discuss the issues related to the cochlear implant procedure in some of these patients, with regard to indications, choice of the ear to implant and results.

  19. Curing hearing loss: Patient expectations, health care practitioners, and basic science

    PubMed Central

    Oshima, Kazuo; Suchert, Steffen; Blevins, Nikolas H.; Heller, Stefan

    2010-01-01

    Millions of patients are debilitated by hearing loss, mainly caused by degeneration of sensory hair cells in the cochlea. The underlying reasons for hair cell loss are highly diverse, ranging from genetic disposition, drug side effects, traumatic noise exposure, to the effects of aging. Whereas modern hearing aids offer some relief of the symptoms of mild hearing loss, the only viable option for patients suffering from profound hearing loss is the cochlear implant. Despite their successes, hearing aids and cochlear implants are not perfect. Particularly frequency discrimination and performance in noisy environments and general efficacy of the devises vary among individual patients. The advent of regenerative medicine, the publicity of stem cells and gene therapy, and recent scientific achievements in inner ear cell regeneration have generated an emerging spirit of optimism among scientists, healthcare practitioners, and patients. In this review, we place the different points of view of these three groups in perspective with the goal of providing an assessment of patient expectations, healthcare reality, and potential future treatment options for hearing disorders. Learning outcomes (1) Readers will be encouraged to put themselves in the position of a hearing impaired patient or family member of a hearing impaired person. (2) Readers will be able to explain why diagnosis of the underlying pathology of hearing loss is difficult. (3) Readers will be able to list the main directions of current research aimed to cure hearing loss. (4) Readers will be able to understand the different viewpoints of patients and their relatives, health care providers, and scientists with respect to finding novel treatments for hearing loss. PMID:20434163

  20. [Universal hearing screening in newborns -- recommendations for organizing and conducting universal hearing screening for congenital hearing loss in Germany].

    PubMed

    Gross, M

    2005-11-01

    The Interdisciplinary Consensus Conference for Newborn Hearing Screening (IKKNHS) has worked out joint recommendations for universal hearing screening of newborns. In the consensus paper, 11 professional associations and scientific societies in the fields of gynecology and obstetrics, ENT, pediatrics, and phoniatrics and pedaudiology came to an agreement how to implement newborn hearing screening in Germany. The paper deals with the following topics: goals of universal newborn hearing screening, target group of hearing screening, schedule for screening, personnel involved in the screening program, technologies and framework conditions of hearing screening, documentation, continuous quality control of screening, confirmation diagnostics for conspicuous test subjects, motivation to take part in screening, information on newborn hearing screening, tracking, various infrastructural situations in urban and rural regions, follow-up care, in-patient vs. out-patient screening, cost factors of screening, reporting children with permanent hearing loss to the German Central Registry for hearing loss in children.

  1. Sudden hearing loss in children.

    PubMed

    Ječmenica, Jovana; Bajec-Opančina, Aleksandra

    2014-08-01

    Sudden sensorineural hearing loss (SSHL) is defined as a unilateral or bilateral sensorineural hearing loss with at least 30 dB decrease in threshold in 3 contiguous test frequencies occurring over 72 hours or less. It is very rare in children. Sudden hearing loss is a symptom that suggests that there is a problem in the inner ear, surrounding structures, or the whole organism. The etiology and development of this disorder are still not fully understood. The literature contains numerous models of the pathogenesis of SSHL, with childhood SSHL having certain peculiarities. In practical terms, the multifactorial nature of SSHL is important in the choice of diagnostic methods and treatment methods. It is important to determine the cause and effect relationship between the underlying disease and hearing loss.

  2. Audiometry and other hearing tests.

    PubMed

    Davies, R A

    2016-01-01

    Hearing tests of the peripheral auditory system are well established and the pure-tone audiogram is generally regarded as the screening test of choice in adults. It allows the distinction to be made between conductive, i.e., outer- and middle-ear, and sensorineural, i.e., cochlear, hearing loss, and also to describe the configuration of the hearing thresholds in terms of severity and the frequency affected. Electrophysiologic testing with auditory potentials, e.g., the auditory brainstem response, can identify sites of lesion in the eighth nerve, brainstem, and more centrally. However, it is only in the last two decades that a battery of central auditory tests has been established that can probe the central pathways in more details, i.e., when the pure-tone audiogram may be normal, and yet the patient still has symptoms of hearing dysfunction. PMID:27638069

  3. Resounding Facts on Hearing Loss

    ERIC Educational Resources Information Center

    Apfel, Robert E.

    1977-01-01

    Provides a brief description of the physiology of the human ear. The effect of sustained noise levels on hearing loss is discussed, as well as the establishment of maximum noise levels for American industries. (CP)

  4. The Role of the Transcription Factor Foxo3 in Hearing Maintenance: Informed Speculation on a New Player in the Cochlea

    PubMed Central

    2016-01-01

    Molecular genetics has proven to be a powerful approach for understanding early-onset hearing loss. Recent work in late-onset hearing loss uses mouse genetics to identify molecular mechanisms that promote the maintenance of hearing. One such gene, Foxo3, is ontologically involved in preserving mitochondrial function. Significant evidence exists to support the idea that mitochondrial dysfunction is correlated with and can be causal for hearing loss. Foxo3 is also ontologically implicated in driving the circadian cycle, which has recently been shown to influence the molecular response to noise damage. In this review, the molecular framework connecting these cellular processes is discussed in relation to the cellular pathologies observed in human specimens of late-onset hearing loss. In bringing these observations together, the possibility arises that distinct molecular mechanisms work in multiple cell types to preserve hearing. This diversity offers great opportunities to understand and manipulate genetic processes for therapeutic gain.

  5. 10 CFR 710.25 - Appointment of Hearing Officer; prehearing conference; commencement of hearings.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... Administrative Review § 710.25 Appointment of Hearing Officer; prehearing conference; commencement of hearings... or other physical evidence, administering oaths and affirmations, ruling upon motions,...

  6. Course of hearing recovery according to frequency in patients with acute acoustic sensorineural hearing loss.

    PubMed

    Harada, Hirofumi; Ichikawa, Daisuke; Imamura, Akihide

    2008-01-01

    Through pure-tone audiometry, we studied the course of hearing recovery in 24 ears of 20 men (ages 18-48 years) who had acute acoustic sensorineural hearing loss (ASHL). All subjects were members of the Japanese Self-Defense Force. The hearing level in 5 ears returned to normal, the hearing level of 13 ears recovered but was not within the normal range, and the hearing level of 6 ears was unchanged. The time from noise exposure to presentation was longer in patients with unchanged hearing than in other patients. Recovery of hearing was poorest at 4,000 Hz, followed by 8,000 and 2,000 Hz. We concluded that hearing in patients with acute ASHL is likely to return to normal when the hearing level at 4,000 Hz recovers gradually; partial recovery of hearing is expected when the hearing level at 4,000 Hz reaches an early plateau. PMID:18616091

  7. 17 CFR 204.38 - Pre-offset hearing.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... form and content of hearings granted under this section, pursuant to 31 CFR 901.3(e). All oral hearings... and persuasion. (c) The hearing official shall: (1) Conduct a fair and impartial hearing; (2)...

  8. 17 CFR 204.38 - Pre-offset hearing.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... form and content of hearings granted under this section, pursuant to 31 CFR 901.3(e). All oral hearings... and persuasion. (c) The hearing official shall: (1) Conduct a fair and impartial hearing; (2)...

  9. 49 CFR 599.512 - Hearing location and costs.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... party requests a hearing at which the party appears before the Hearing Officer in Washington, DC, the... Transportation in Washington, DC. (b) The Hearing Officer may transfer a case to another Hearing Officer at...

  10. 49 CFR 599.512 - Hearing location and costs.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... party requests a hearing at which the party appears before the Hearing Officer in Washington, DC, the... Transportation in Washington, DC. (b) The Hearing Officer may transfer a case to another Hearing Officer at...

  11. Psychosocial Aspects of Hearing Loss in Children.

    PubMed

    Sorkin, Donna L; Gates-Ulanet, Patricia; Mellon, Nancy K

    2015-12-01

    Pediatric hearing loss changed more in the past two decades than it had in the prior 100 years with children now identified in the first weeks of life and fit early with amplification. Dramatic improvements in hearing technology allow children the opportunity to listen, speak and read on par with typically hearing peers. National laws mandate that public and private schools, workplaces, and anywhere people go must be accessible to individuals with disabilities. In 2015, most children with hearing loss attended mainstream schools with typically hearing peers. Psychosocial skills still present challenges for some children with hearing loss.

  12. Psychosocial Aspects of Hearing Loss in Children.

    PubMed

    Sorkin, Donna L; Gates-Ulanet, Patricia; Mellon, Nancy K

    2015-12-01

    Pediatric hearing loss changed more in the past two decades than it had in the prior 100 years with children now identified in the first weeks of life and fit early with amplification. Dramatic improvements in hearing technology allow children the opportunity to listen, speak and read on par with typically hearing peers. National laws mandate that public and private schools, workplaces, and anywhere people go must be accessible to individuals with disabilities. In 2015, most children with hearing loss attended mainstream schools with typically hearing peers. Psychosocial skills still present challenges for some children with hearing loss. PMID:26429333

  13. Hearing and hearing loss: Causes, effects, and treatments

    NASA Astrophysics Data System (ADS)

    Schmiedt, Richard A.

    2003-04-01

    Hearing loss can have multiple causes. The outer and middle ears are conductive pathways for acoustic energy to the inner ear (cochlea) and help shape our spectral sensitivity. Conductive hearing loss is mechanical in nature such that the energy transfer to the cochlea is impeded, often from eardrum perforations or middle ear fluid buildup. Beyond the middle ear, the cochlea comprises three interdependent systems necessary for normal hearing. The first is that of basilar-membrane micromechanics including the outer hair cells. This system forms the basis of the cochlear amplifier and is the most vulnerable to noise and drug exposure. The second system comprises the ion pumps in the lateral wall tissues of the cochlea. These highly metabolic cells provide energy to the cochlear amplifier in the form of electrochemical potentials. This second system is particularly vulnerable to the effects of aging. The third system comprises the inner hair cells and their associated sensory nerve fibers. This system is the transduction stage, changing mechanical vibrations to nerve impulses. New treatments for hearing loss are on the horizon; however, at present the best strategy is avoidance of cochlear trauma and the proper use of hearing aids. [Work supported by NIA and MUSC.

  14. Hearing in three dimensions

    NASA Astrophysics Data System (ADS)

    Shinn-Cunningham, Barbara

    2003-04-01

    One of the key functions of hearing is to help us monitor and orient to events in our environment (including those outside the line of sight). The ability to compute the spatial location of a sound source is also important for detecting, identifying, and understanding the content of a sound source, especially in the presence of competing sources from other positions. Determining the spatial location of a sound source poses difficult computational challenges; however, we perform this complex task with proficiency, even in the presence of noise and reverberation. This tutorial will review the acoustic, psychoacoustic, and physiological processes underlying spatial auditory perception. First, the tutorial will examine how the many different features of the acoustic signals reaching a listener's ears provide cues for source direction and distance, both in anechoic and reverberant space. Then we will discuss psychophysical studies of three-dimensional sound localization in different environments and the basic neural mechanisms by which spatial auditory cues are extracted. Finally, ``virtual reality'' approaches for simulating sounds at different directions and distances under headphones will be reviewed. The tutorial will be structured to appeal to a diverse audience with interests in all fields of acoustics and will incorporate concepts from many areas, such as psychological and physiological acoustics, architectural acoustics, and signal processing.

  15. Cartilage conduction hearing.

    PubMed

    Shimokura, Ryota; Hosoi, Hiroshi; Nishimura, Tadashi; Yamanaka, Toshiaki; Levitt, Harry

    2014-04-01

    Sound information is known to travel to the cochlea via either air or bone conduction. However, a vibration signal, delivered to the aural cartilage via a transducer, can also produce a clearly audible sound. This type of conduction has been termed "cartilage conduction." The aural cartilage forms the outer ear and is distributed around the exterior half of the external auditory canal. In cartilage conduction, the cartilage and transducer play the roles of a diaphragm and voice coil of a loudspeaker, respectively. There is a large gap between the impedances of cartilage and skull bone, such that cartilage vibrations are not easily transmitted through bone. Thus, these methods of conduction are distinct. In this study, force was used to apply a transducer to aural cartilage, and it was found that the sound in the auditory canal was amplified, especially for frequencies below 2 kHz. This effect was most pronounced at an application force of 1 N, which is low enough to ensure comfort in the design of hearing aids. The possibility of using force adjustments to vary amplification may also have applications for cell phone design.

  16. Vertigo and hearing loss.

    PubMed

    Newman-Toker, David E; Della Santina, Charles C; Blitz, Ari M

    2016-01-01

    Symptoms referable to disorders affecting the inner ear and vestibulocochlear nerve (eighth cranial nerve) include dizziness, vertigo, tinnitus, and hearing loss, in various combinations. Similar symptoms may occur with involvement of the central nervous system, principally the brainstem and cerebellum, to which the vestibular and auditory systems are connected. Imaging choices should be tailored to patient symptoms and the clinical context. Computed tomography (CT) should be used primarily to assess bony structures. Magnetic resonance imaging (MRI) should be used primarily to assess soft-tissue structures. Vascular imaging by angiography or venography should be obtained when vascular lesions are suspected. No imaging should be obtained in patients with typical presentations of common peripheral vestibular or auditory disorders. In current clinical practice, neuroimaging is often overused, especially CT in the assessment of acute dizziness and vertigo in the emergency department. Despite low sensitivity for ischemic strokes, CT is often used to rule out neurologic causes. When ischemic stroke is the principal concern in acute vestibular presentations, imaging should almost always be by MRI with diffusion-weighted images, rather than CT. In this chapter, we describe recommended strategies for audiovestibular imaging based on patient symptoms and signs. PMID:27430449

  17. Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

    PubMed

    Brownstein, Zippora; Abu-Rayyan, Amal; Karfunkel-Doron, Daphne; Sirigu, Serena; Davidov, Bella; Shohat, Mordechai; Frydman, Moshe; Houdusse, Anne; Kanaan, Moien; Avraham, Karen B

    2014-06-01

    Hereditary hearing loss is genetically heterogeneous, with a large number of genes and mutations contributing to this sensory, often monogenic, disease. This number, as well as large size, precludes comprehensive genetic diagnosis of all known deafness genes. A combination of targeted genomic capture and massively parallel sequencing (MPS), also referred to as next-generation sequencing, was applied to determine the deafness-causing genes in hearing-impaired individuals from Israeli Jewish and Palestinian Arab families. Among the mutations detected, we identified nine novel mutations in the genes encoding myosin VI, myosin VIIA and myosin XVA, doubling the number of myosin mutations in the Middle East. Myosin VI mutations were identified in this population for the first time. Modeling of the mutations provided predicted mechanisms for the damage they inflict in the molecular motors, leading to impaired function and thus deafness. The myosin mutations span all regions of these molecular motors, leading to a wide range of hearing phenotypes, reinforcing the key role of this family of proteins in auditory function. This study demonstrates that multiple mutations responsible for hearing loss can be identified in a relatively straightforward manner by targeted-gene MPS technology and concludes that this is the optimal genetic diagnostic approach for identification of mutations responsible for hearing loss.

  18. Do Hearing Aids Improve Affect Perception?

    PubMed

    Schmidt, Juliane; Herzog, Diana; Scharenborg, Odette; Janse, Esther

    2016-01-01

    Normal-hearing listeners use acoustic cues in speech to interpret a speaker's emotional state. This study investigates the effect of hearing aids on the perception of the emotion dimensions arousal (aroused/calm) and valence (positive/negative attitude) in older adults with hearing loss. More specifically, we investigate whether wearing a hearing aid improves the correlation between affect ratings and affect-related acoustic parameters. To that end, affect ratings by 23 hearing-aid users were compared for aided and unaided listening. Moreover, these ratings were compared to the ratings by an age-matched group of 22 participants with age-normal hearing.For arousal, hearing-aid users rated utterances as generally more aroused in the aided than in the unaided condition. Intensity differences were the strongest indictor of degree of arousal. Among the hearing-aid users, those with poorer hearing used additional prosodic cues (i.e., tempo and pitch) for their arousal ratings, compared to those with relatively good hearing. For valence, pitch was the only acoustic cue that was associated with valence. Neither listening condition nor hearing loss severity (differences among the hearing-aid users) influenced affect ratings or the use of affect-related acoustic parameters. Compared to the normal-hearing reference group, ratings of hearing-aid users in the aided condition did not generally differ in both emotion dimensions. However, hearing-aid users were more sensitive to intensity differences in their arousal ratings than the normal-hearing participants.We conclude that the use of hearing aids is important for the rehabilitation of affect perception and particularly influences the interpretation of arousal. PMID:27080645

  19. Genetics of hearing loss: where are we standing now?

    PubMed

    Mahboubi, Hossein; Dwabe, Sami; Fradkin, Matthew; Kimonis, Virginia; Djalilian, Hamid R

    2012-07-01

    Hearing loss (HL) is the most common sensory impairment and is caused by a broad range of inherited to environmental causes. Inherited HL consists 50-60% of all HL cases. The inherited form of HL is further classified to different categories. More than 300 syndromes and 40 genes have been identified to result in different levels of HL. Although several diagnostic or screening tests have been developed, yet there are controversies around their use. PMID:22218850

  20. Vestibular hearing and speech processing.

    PubMed

    Emami, Seyede Faranak; Pourbakht, Akram; Sheykholeslami, Kianoush; Kamali, Mohammad; Behnoud, Fatholah; Daneshi, Ahmad

    2012-01-01

    Vestibular hearing in human is evoked as a result of the auditory sensitivity of the saccule to low-frequency high-intensity tone. The objective was to investigate the relationship between vestibular hearing using cervical vestibular-evoked myogenic potentials (cVEMPs) and speech processing via word recognition scores in white noise (WRSs in wn). Intervention comprised of audiologic examinations, cVEMPs, and WRS in wn. All healthy subjects had detectable cVEMPs (safe vestibular hearing). WRSs in wn were obtained for them (66.9 ± 9.3% in the right ears and 67.5 ± 11.8% in the left ears). Dizzy patients in the affected ears, had the cVEMPs abnormalities (insecure vestibular hearing) and decreased the WRS in wn (51.4 ± 3.8% in the right ears and 52.2 ± 3.5% in the left ears). The comparison of the cVEMPs between the subjects revealed significant differences (P < 0.05). Therefore, the vestibular hearing can improve the speech processing in the competing noisy conditions. PMID:23724272

  1. Pragmatic Abilities of Children with Hearing Loss Using Cochlear Implants or Hearing Aids Compared to Hearing Children

    ERIC Educational Resources Information Center

    Most, Tova; Shina-August, Ella; Meilijson, Sara

    2010-01-01

    This study characterized the profile of pragmatic abilities among 24 children with hearing loss (HL) aged 6.3-9.4 years, 13 using hearing aids (HAs) and 11 using cochlear implants (CIs), in comparison to those of 13 hearing children with similar chronological and language ages. All the children with HL used spoken language, attended regular…

  2. 45 CFR 213.11 - Notice of hearing or opportunity for hearing.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... PRACTICE AND PROCEDURE FOR HEARINGS TO STATES ON CONFORMITY OF PUBLIC ASSISTANCE PLANS TO FEDERAL REQUIREMENTS Preliminary Matters-Notice and Parties § 213.11 Notice of hearing or opportunity for hearing... the State. The notice shall state the time and place for the hearing, and the issues which will...

  3. 45 CFR 213.11 - Notice of hearing or opportunity for hearing.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... PRACTICE AND PROCEDURE FOR HEARINGS TO STATES ON CONFORMITY OF PUBLIC ASSISTANCE PLANS TO FEDERAL REQUIREMENTS Preliminary Matters-Notice and Parties § 213.11 Notice of hearing or opportunity for hearing... the State. The notice shall state the time and place for the hearing, and the issues which will...

  4. 45 CFR 213.11 - Notice of hearing or opportunity for hearing.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... PRACTICE AND PROCEDURE FOR HEARINGS TO STATES ON CONFORMITY OF PUBLIC ASSISTANCE PLANS TO FEDERAL REQUIREMENTS Preliminary Matters-Notice and Parties § 213.11 Notice of hearing or opportunity for hearing... the State. The notice shall state the time and place for the hearing, and the issues which will...

  5. 20 CFR 220.56 - Securing medical evidence at the hearings officer hearing level.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... medical evidence at the hearings officer hearing level. (a) Where there is a conflict in the medical... reasoning will be explained in the decision rationale. Where such resolution is not possible, the hearings..., prognosis, etc.) to resolve the conflict. Even in the absence of a conflict, the hearings officer will...

  6. 45 CFR 81.51 - Notice of hearing or opportunity for hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Notice of hearing or opportunity for hearing. 81.51 Section 81.51 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL ADMINISTRATION PRACTICE AND PROCEDURE FOR HEARINGS UNDER PART 80 OF THIS TITLE Proceedings Prior to Hearing § 81.51...

  7. 40 CFR 24.10 - Scheduling the hearing; pre-hearing submissions by respondent.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 1 2011-07-01 2011-07-01 false Scheduling the hearing; pre-hearing submissions by respondent. 24.10 Section 24.10 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY... Hearings on Orders Requiring Investigations or Studies § 24.10 Scheduling the hearing;...

  8. 40 CFR 24.10 - Scheduling the hearing; pre-hearing submissions by respondent.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 40 Protection of Environment 1 2013-07-01 2013-07-01 false Scheduling the hearing; pre-hearing submissions by respondent. 24.10 Section 24.10 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY... Hearings on Orders Requiring Investigations or Studies § 24.10 Scheduling the hearing;...

  9. 40 CFR 24.10 - Scheduling the hearing; pre-hearing submissions by respondent.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 40 Protection of Environment 1 2012-07-01 2012-07-01 false Scheduling the hearing; pre-hearing submissions by respondent. 24.10 Section 24.10 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY... Hearings on Orders Requiring Investigations or Studies § 24.10 Scheduling the hearing;...

  10. 40 CFR 24.10 - Scheduling the hearing; pre-hearing submissions by respondent.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 40 Protection of Environment 1 2014-07-01 2014-07-01 false Scheduling the hearing; pre-hearing submissions by respondent. 24.10 Section 24.10 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY... Hearings on Orders Requiring Investigations or Studies § 24.10 Scheduling the hearing;...

  11. 40 CFR 24.10 - Scheduling the hearing; pre-hearing submissions by respondent.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 1 2010-07-01 2010-07-01 false Scheduling the hearing; pre-hearing submissions by respondent. 24.10 Section 24.10 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY... Hearings on Orders Requiring Investigations or Studies § 24.10 Scheduling the hearing;...

  12. Preference for Consonance over Dissonance by Hearing Newborns of Deaf Parents and of Hearing Parents

    ERIC Educational Resources Information Center

    Masataka, Nobuo

    2006-01-01

    Behavioral preferences for consonance over dissonance were tested in hearing infants of deaf parents and in hearing infants of hearing parents when they were 2 days old. Using a modified visual-fixation-based, auditory-preference procedure, I found that both 2-day-old infants of deaf parents and those of hearing parents looked longer at a visual…

  13. 20 CFR 220.56 - Securing medical evidence at the hearings officer hearing level.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... medical evidence at the hearings officer hearing level. (a) Where there is a conflict in the medical... reasoning will be explained in the decision rationale. Where such resolution is not possible, the hearings..., prognosis, etc.) to resolve the conflict. Even in the absence of a conflict, the hearings officer will...

  14. Assistive Hearing Technologies among Students with Hearing Impairment: Factors that Promote Satisfaction

    ERIC Educational Resources Information Center

    Rekkedal, Ann Mette

    2012-01-01

    Hearing technology can play an essential part in the education of deaf and hard-of-hearing children in inclusive schools. Few studies have examined these children's experiences with this technology. This article explores factors pertaining to children's use of and attitudes toward hearing technologies, such as hearing aids, cochlear implants,…

  15. 45 CFR 213.11 - Notice of hearing or opportunity for hearing.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... PRACTICE AND PROCEDURE FOR HEARINGS TO STATES ON CONFORMITY OF PUBLIC ASSISTANCE PLANS TO FEDERAL REQUIREMENTS Preliminary Matters-Notice and Parties § 213.11 Notice of hearing or opportunity for hearing... the State. The notice shall state the time and place for the hearing, and the issues which will...

  16. 45 CFR 213.11 - Notice of hearing or opportunity for hearing.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... PRACTICE AND PROCEDURE FOR HEARINGS TO STATES ON CONFORMITY OF PUBLIC ASSISTANCE PLANS TO FEDERAL REQUIREMENTS Preliminary Matters-Notice and Parties § 213.11 Notice of hearing or opportunity for hearing... the State. The notice shall state the time and place for the hearing, and the issues which will...

  17. 12 CFR 19.123 - Informal hearing.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... hearing shall be open to the public. In addition, the applicant and any other hearing participant may... presiding officer may exclude data or materials deemed to be improper or irrelevant. Formal rules...

  18. 12 CFR 19.123 - Informal hearing.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... hearing shall be open to the public. In addition, the applicant and any other hearing participant may... presiding officer may exclude data or materials deemed to be improper or irrelevant. Formal rules...

  19. 47 CFR 1.1928 - Hearing.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... by the hearing official who shall be a person outside the control or authority of the Commission... conclusions, in the light of the hearing, as to— (A) The employee's and/or agency's grounds, (B) The...

  20. 40 CFR 790.97 - Hearing procedures.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... preclude a joint hearing. (c) EPA will notify each applicant of EPA's decision within 60 days after the...'s basis for appealing EPA's decision. (b) If more than one applicant has requested a hearing...