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Hearing Disorders: HELP
Articles by Herminio Pérez Garrigues
Based on 13 articles published since 2010
(Why 13 articles?)

Between 2010 and 2020, H. Perez-Garrigues wrote the following 13 articles about Hearing Disorders.
+ Citations + Abstracts
1 Article Valencia's Cathedral Church Bell Acoustics Impact on the Hearing Abilities of Bell Ringers. 2019

García, Laura / Parra, Lorena / Gomis, Blanca Pastor / Cavallé, Laura / Pérez Guillén, Vanesa / Pérez Garrigues, Herminio / Lloret, Jaime. ·Instituto de Investigación para la Gestión Integrada de zonas Costeras, Universitat Politècnica de València, C/Paranimf 1, Grau de Gandia, 46730 Valencia, Spain. laugarg2@teleco.upv.es. · Instituto de Investigación para la Gestión Integrada de zonas Costeras, Universitat Politècnica de València, C/Paranimf 1, Grau de Gandia, 46730 Valencia, Spain. loparbo@doctor.upv.es. · Sección de Otoneurología del Hospital Universitario La Fe, 46026 Valencia, Spain. bpastorgomis@gmail.com. · Sección de Otoneurología del Hospital Universitario La Fe, 46026 Valencia, Spain. cavallelaura@gmail.com. · Sección de Otoneurología del Hospital Universitario La Fe, 46026 Valencia, Spain. perez_mva@gva.es. · Sección de Otoneurología del Hospital Universitario La Fe, 46026 Valencia, Spain. perez_her@gva.es. · Instituto de Investigación para la Gestión Integrada de zonas Costeras, Universitat Politècnica de València, C/Paranimf 1, Grau de Gandia, 46730 Valencia, Spain. jlloret@dcom.upv.es. ·Int J Environ Res Public Health · Pubmed #31060256.

ABSTRACT: Studies on the effect of occupational noise have been widely performed for occupations such as construction workers, workers of factories or even musicians and workers of nightclubs. However, studies on the acoustics of church bells are very scarce and usually reported in languages other than English. In Spain, although the tradition of bell ringers is progressively getting lost, some bell ringers that continue transmitting the tradition remain. Church bells create sound with a large sound pressure level that can be heard from a great distance. However, despite the characteristics of the sound of church bells, bell ringers do not present symptoms of occupational hearing loss unlike musicians and construction workers. To determine the effects of the sound of the church bells on bell ringers, in this paper, an acoustic study of the church bells and a physiological study of the hearing abilities of bell ringers. Results show sound pressure levels reaching 120 dB inside the bell tower. The resulting hearing loss in bell ringers is small considering the great intensity of the sound produced by the bells. This is likely due to the short amount of time that bell ringers are exposed to the sound even if it reaches high sound pressure levels.

2 Article Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. 2017

Sivera, Rafael / Cavalle, Laura / Vílchez, Juan J / Espinós, Carmen / Pérez Garrigues, Herminio / Sevilla, Teresa. ·Department of Neurology, Hospital Francisco de Borja, Av Medicina 6, Gandia, Spain. rafasivera@gmail.com. ·J Int Adv Otol · Pubmed #28555600.

ABSTRACT: OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. Vestibulopathy caused by the dysfunction of cranial nerve VIII has been demonstrated in a high percentage of these patients, but the presence and degree of auditory neuropathy are unknown. The aim of the study was to characterize the hearing abnormalities of a series of patients with CMT4C and to determine the presence and severity of auditory neuropathy (AN) in these patients. MATERIALS AND METHODS: Ten patients with genetically confirmed CMT4C underwent comprehensive clinical and audiological testing. The results were compared among patients in different age groups and also to the results of vestibular testing that had already been performed. RESULTS: Only 3 patients had hearing problems, but 9 had hearing abnormalities on ancillary testing that were compatible with different degrees of auditory nerve dysfunction. In the mildest cases, only the abnormality of the stapedial reflex and distortion of wave I in auditory brainstem responses could be detected. In the more severe cases, tonal audiometry revealed asymmetric hearing loss. These findings were more severe in older patients, even after correcting for age-related hypoacusia. In these patients, vestibular dysfunction could also be detected and seemed to be more profound and symmetric than hearing loss. CONCLUSION: This report confirms and defines the presence of different degrees of auditory neuropathy in all patients with CMT4C, being detectable, usually unilaterally, during infancy, and worsening with disease progression.

3 Article Extended phenotype and clinical subgroups in unilateral Meniere disease: A cross-sectional study with cluster analysis. 2017

Frejo, L / Martin-Sanz, E / Teggi, R / Trinidad, G / Soto-Varela, A / Santos-Perez, S / Manrique, R / Perez, N / Aran, I / Almeida-Branco, M S / Batuecas-Caletrio, A / Fraile, J / Espinosa-Sanchez, J M / Perez-Guillen, V / Perez-Garrigues, H / Oliva-Dominguez, M / Aleman, O / Benitez, J / Perez, P / Lopez-Escamez, J A / Anonymous7350895. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine- Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. · Department of Otolaryngology, Hospital Universitario de Getafe, Getafe, Spain. · Department of Otolaryngology, San Raffaelle Scientific Institute, Milan, Italy. · Division of Otoneurology, Department of Otorhinolaryngology, Complejo Hospitalario Universitario de Badajoz, Badajoz, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain. · Department of Otolaryngology, Clinica Universidad de Navarra, Pamplona, Spain. · Department of Otolaryngology, Complexo Hospitalario de Pontevedra, Pontevedra, Spain. · Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain. · Department of Otolaryngology, Hospital Universitario Salamanca, Salamanca, Spain. · Department of Otolaryngology, Hospital Miguel Servet, Zaragoza, Spain. · Department of Otorhinolaryngology, Hospital San Agustin, Linares, Jaen, Spain. · Department of Otorhinolaryngology, Hospital Universitario La Fe, Valencia, Spain. · Department of Otorhinolaryngology, Hospital Costa del Sol, Marbella, Malaga, Spain. · Department of Otolaryngology, Hospital General Universitario de Alicante, Alicante, Spain. · Department of Otolaryngology, Hospital Universitario de Gran Canaria Dr Negrin, Las Palmas, Spain. · Department of Otorhinolaryngology, Hospital Universitario de Cabueñes, Gijon, Spain. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospitalario Universidad de Granada (CHUGRA), Granada, Spain. ·Clin Otolaryngol · Pubmed #28166395.

ABSTRACT: OBJECTIVES: To define clinical subgroups by cluster analysis in patients with unilateral Meniere disease (MD) and to compare them with the clinical subgroups found in bilateral MD. DESIGN: A cross-sectional study with a two-step cluster analysis. SETTINGS: A tertiary referral multicenter study. PARTICIPANTS: Nine hundred and eighty-eight adult patients with unilateral MD. MAIN OUTCOME MEASURES: best predictors to define clinical subgroups with potential different aetiologies. RESULTS: We established five clusters in unilateral MD. Group 1 is the most frequently found, includes 53% of patients, and it is defined as the sporadic, classic MD without migraine and without autoimmune disorder (AD). Group 2 is found in 8% of patients, and it is defined by hearing loss, which antedates the vertigo episodes by months or years (delayed MD), without migraine or AD in most of cases. Group 3 involves 13% of patients, and it is considered familial MD, while group 4, which includes 15% of patients, is linked to the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by a comorbid AD. We found significant differences in the distribution of AD in clusters 3, 4 and 5 between patients with uni- and bilateral MD. CONCLUSIONS: Cluster analysis defines clinical subgroups in MD, and it extends the phenotype beyond audiovestibular symptoms. This classification will help to improve the phenotyping in MD and facilitate the selection of patients for randomised clinical trials.

4 Article Response Over Time of Vertigo Spells to Intratympanic Dexamethasone Treatment in Meniere's Disease Patients. 2016

Atrache Al Attrache, Nabil / Krstulovic, Claudio / Pérez Guillen, Vanesa / Morera Pérez, Constantino / Pérez Garrigues, Herminio. ·Department of Otolaryngology, Hospital Universitario La Fe, Valencia, Spain. nabil_atrache@hotmail.com. ·J Int Adv Otol · Pubmed #27340991.

ABSTRACT: OBJECTIVE: To assess the effectiveness and response over time of intratympanic dexamethasone on the symptoms of Meniere's disease. MATERIALS AND METHODS: We performed a matched cohort study of 24 patients with Meniere's disease who were unresponsive to initial treatment and underwent 3 sessions of weekly intratympanic dexamethasone injections using a concentration of 16 mg/mL and 24 matched controls with the same characteristics with regard to vertigo spells. RESULTS: Compared with control subjects, intratympanic dexamethasone injections resulted in a decrease in the frequency of vertigo spells in the first 6-month period. In the dexamethasone-treated group, a ≥60% decrease in vertigo spells was achieved by 70.8% of patients in the first 6 months. Total remission was achieved by 20.8% of patients in the first 8 months, but after this, the effect tapered. A slight improvement in Tinnitus loudness and no changes in hearing levels were found. The stage of Meniere's disease, years from disease onset, and mean number of vertigo spells per month did not have any effects on the percentage of decrease in vertigo spells. CONCLUSION: Intratympanic dexamethasone temporarily reduces the frequency of vertigo spells during the initial months but does not remove the probability of having further spells in the future. This therapy provides a valuable tool to accomplish a rapid decrease in vertigo spells in subjects with Meniere's disease, and it is considered an alternative to chemical or surgical labyrinthectomy.

5 Article Allelic variants in TLR10 gene may influence bilateral affectation and clinical course of Meniere's disease. 2013

Requena, Teresa / Gazquez, Irene / Moreno, Antonia / Batuecas, Angel / Aran, Ismael / Soto-Varela, Andres / Santos-Perez, Sofia / Perez, Nicolas / Perez-Garrigues, Herminio / Lopez-Nevot, Alicia / Martin, Eduardo / Sanz, Ricardo / Perez, Paz / Trinidad, Gabriel / Alarcon-Riquelme, Marta E / Teggi, Roberto / Zagato, Laura / Lopez-Nevot, Miguel A / Lopez-Escamez, Jose A. ·Human DNA Variability Department, Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. ·Immunogenetics · Pubmed #23370977.

ABSTRACT: Toll-like receptors trigger the innate immune response by activating various cell types such us macrophages and lymphocytes. We genotyped SNV of TLR3, TRL7, TLR8 and TLR10 in 863 Spanish and 150 Italian patients with Meniere's disease (MD) and 1,013 controls by using Taqman assays. Real-Time qPCR was used to measure the expression level of TLR10 in peripheral blood leukocytes. The overall dataset showed that the C allele and the CC genotype of rs11096955 in TLR10 gene were more commonly observed in controls than patients (corrected p = 1 × 10(-3), OR = 0.68 [95 % confidence interval, 0.54-0.84] for CC genotype; corrected p = 1.5 × 10(-5), OR = 0.75 [0.66-0.85] for allele C). Moreover, the CC genotype was more frequent in patients with uni- (19 %) than bilateral sensorineural hearing loss (SNHL) (13 %). Logistic regression demonstrated that the time since the onset of MD, Tumarkin crises, hearing stage and rs11096955 were independent factors influencing the risk of bilateral SNHL. In addition, rs11096955 influenced hearing loss progression in patients with bilateral MD. No change in expression of TLR10 was observed according to CC, CA or AA genotypes. Our data suggest that allelic variants of TLR10 gene may influence the susceptibility and time-course of hearing loss of MD in the European population.

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

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

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

7 Article MICA-STR A.4 is associated with slower hearing loss progression in patients with Ménière's disease. 2012

Gazquez, Irene / Moreno, Antonia / Aran, Ismael / Soto-Varela, Andres / Santos, Sofia / Perez-Garrigues, Herminio / Lopez-Nevot, Alicia / Requena, Teresa / Lopez-Nevot, Miguel Angel / Lopez-Escamez, Jose Antonio. ·Otology and Neurotology Group CTS495, GENYO, Centro de Genómica e Investigación Oncológica-Pfizer/Universidad de Granada/Junta de Andalucía, Granada, Spain. ·Otol Neurotol · Pubmed #22222578.

ABSTRACT: HYPOTHESIS: Immune response may influence hearing outcome in Ménière's disease (MD). BACKGROUND: Major histocompatibility complex class I chain-related A (MICA) encodes a highly polymorphic stress-inducible protein, which interacts with NKGD2 receptor on the surface of NK, γδ T cells and T CD8 lymphocytes. We investigated the association of MICA gene with hearing outcome in MD and its linkage disequilibrium (LD) with human leukocyte antigen (HLA)-B. METHODS: MICA short tandem repeat polymorphism (MICA-STR) was genotyped using a polymerase chain reaction-based method in a total of 302 Spanish patients with MD and 420 healthy controls. Genotyping of HLA-B was performed using polymerase chain reaction and detected with reverse sequence-specific oligonucleotide probe system in 292 patients and 1,014 controls. RESULTS: Hearing loss was associated with the duration of MD (p = 0.001). We found that MICA*A5 alelle was significantly associated in the Mediterranean set (Pc = 0.04, odds ratio = 0.51 [95% confidence interval, 0.30-0.84]), but this finding was not replicated in the Galicia population. However, median time to develop hearing loss greater than 40 dB was 16 years (95% confidence interval, 9-23) for patients with the MICA*A.4 allele and 10 years (95% confidence interval, 9-11) for patients with another MICA-STR allele (log-rank test, p = 0.0038). We did not find statistical differences in the distribution of B locus between the MD and the control group. In the LD analysis, MICA*A5.1-HLA-B*07 (8.8%), MICA*A6-HLA-B*44 (8.3%), and MICA*A6-HLA-B*51 (8.3%) were the most common haplotypes, and the stronger LD was found for haplotypes MICA*A.4-HLA-B*18 (r2 = 0.41) and MICA*A.4-HLA-B*27(r2 = 0.29). CONCLUSION: The allelic variant MICA*A.4 is significantly associated with slower progression of hearing loss in patients with MD. This suggests that the immune response influence hearing level in MD.

8 Article Evolution of symptoms in Ménière's disease. 2012

Belinchon, Antonio / Perez-Garrigues, Herminio / Tenias, Jose Maria. ·Department of Otorhinolaryngology, Complejo Hospitalario Universitario Albacete, Albacete, Spain. belinchon@comv.es ·Audiol Neurootol · Pubmed #21985844.

ABSTRACT: OBJECTIVE: To investigate the sequence and correlation of symptoms of Ménière's disease (MD) depending on their order of manifestation. METHODS: Descriptive, longitudinal study of the symptoms in 237 tertiary hospital patients who had been diagnosed with definite MD according to the criteria of the American Academy of Otolaryngology. Patients were followed for 1-31 years. RESULTS: Disease began with the three classic symptoms in only 40% of the patients. We recorded the mean, median and maximum time needed to complete the symptoms as well as the time elapsed in some patients from disease onset in one ear to bilateral involvement. CONCLUSIONS: We reckon that this study may be of great help in ruling out a diagnosis of MD when the patient presents with only one or two symptoms of the triad. Furthermore, regarding the planning of treatment, the time interval between unilateral and bilateral involvement (5-7 years) is very important since bilateral involvement has great repercussions on treatment, especially surgical treatment.

9 Article High prevalence of systemic autoimmune diseases in patients with Menière's disease. 2011

Gazquez, Irene / Soto-Varela, Andres / Aran, Ismael / Santos, Sofia / Batuecas, Angel / Trinidad, Gabriel / Perez-Garrigues, Herminio / Gonzalez-Oller, Carlos / Acosta, Lourdes / Lopez-Escamez, Jose A. ·Genyo, Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/Junta de Andalucia, Granada, Spain. ·PLoS One · Pubmed #22053211.

ABSTRACT: BACKGROUND: Autoimmunity appears to be associated with the pathophysiology of Meniere's disease (MD), an inner ear disorder characterized by episodes of vertigo associated with hearing loss and tinnitus. However, the prevalence of autoimmune diseases (AD) in patients with MD has not been studied in individuals with uni or bilateral sensorineural hearing loss (SNHL). METHODS AND FINDINGS: We estimated the prevalence of AD in 690 outpatients with MD with uni or bilateral SNHL from otoneurology clinics at six tertiary referral hospitals by using clinica criteria and an immune panel (lymphocyte populations, antinuclear antibodies, C3, C4 and proinflammatory cytokines TNFα, INFγ). The observed prevalence of rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) was higher than expected for the general population (1.39 for RA, 0.87 for SLE and 0.70 for AS, respectively). Systemic AD were more frequently observed in patients with MD and diagnostic criteria for migraine than cases with MD and tension-type headache (p = 0.007). There were clinical differences between patients with uni or bilateral SNHL, but no differences were found in the immune profile. Multiple linear regression showed that changes in lymphocytes subpopulations were associated with hearing loss and persistence of vertigo, suggesting a role for the immune response in MD. CONCLUSIONS: Despite some limitations, MD displays an elevated prevalence of systemic AD such as RA, SLE and AS. This finding, which suggests an autoimmune background in a subset of patients with MD, has important implications for the treatment of MD.

10 Article Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population. 2011

Gazquez, Irene / Lopez-Escamez, Jose A / Moreno, Antonia / Campbell, Colleen A / Meyer, Nicole C / Carey, John P / Minor, Lloyd B / Gantz, Bruce J / Hansen, Marlan R / Della Santina, Charles C / Aran, Ismael / Soto-Varela, Andres / Santos, Sofia / Batuecas, Angel / Perez-Garrigues, Herminio / Lopez-Nevot, Alicia / Smith, Richard J H / Lopez-Nevot, Miguel A. ·Otology and Neurotology Group CTS495, GENYO, Centro de Genómica e Investigación Oncológica-Pfizer, Universidad de Granada, Junta de Andalucía, Granada, Spain. ·DNA Cell Biol · Pubmed #21612410.

ABSTRACT: Hearing loss in Ménière's disease (MD) is associated with loss of spiral ganglion neurons and hair cells. In a guinea pig model of endolymphatic hydrops, nitric oxide synthases (NOS) and oxidative stress mediate loss of spiral ganglion neurons. To test the hypothesis that functional variants of NOS1 and NOS2A are associated with MD, we genotyped three functional variants of NOS1 (rs41279104, rs2682826, and a cytosine-adenosine microsatellite repeat in exon 1f) and the CCTTT repeat in the promoter of NOS2A gene (rs3833912) in two independent MD sets (273 patients in total) and 550 controls. A third cohort of American patients was genotyped as replication cohort for the CCTTT repeat. Neither allele nor genotype frequencies of rs41279104 and rs2682826 were associated with MD, although longer alleles of the cytosine-adenosine microsatellite repeat were marginally significant (corrected p = 0.05) in the Mediterranean cohort but not in a second Galicia cohort. Shorter numbers of the CCTTT repeat in NOS2A were significantly more frequent in Galicia controls (OR = 0.37 [CI, 0.18-0.76], corrected p = 0.04), but this finding could not be replicated in Mediterranean or American case-control populations. Meta-analysis did not support an association between CCTTT repeats and risk for MD. Severe hearing loss (>75 dB) was also not associated with any functional variants studied. Functional variants of NOS1 and NOS2A do not confer susceptibility for MD.

11 Article Hearing assessment in Menière's disease. 2011

Belinchon, Antonio / Perez-Garrigues, Herminio / Tenias, Jose Maria / Lopez, Alberto. ·Department of Otorhinolaryngology, Complejo Hospitalario Universitario Albacete, Albacete, Spain. belinchon@comv.es ·Laryngoscope · Pubmed #21305548.

ABSTRACT: OBJECTIVES: To investigate the level of hearing loss and the configuration of the mean audiometric curve over the course of Menière's disease, correcting the data according to patient age. STUDY DESIGN: A retrospective study of 3,963 hearing tests. METHODS: Descriptive, longitudinal study of pure-tone audiometries of 237 patients at a tertiary hospital who had been diagnosed with definitive Menière's disease according to the American Academy of Otorhinolaryngology criteria. All audiometric results were age-corrected, and patients were followed for 1 to 31 years. In patients who had undergone surgery, only the data collected before the operation were assessed. RESULTS: In patients with unilateral disease, the mean hearing loss was characteristically low frequency, even in very advanced stages of the disease. Hearing loss was accentuated at 5 and 15 years from onset. In bilateral cases, hearing loss was slightly more severe and the average loss produced a flatter audiometric curve than in unilateral cases. CONCLUSIONS: In Menière's disease, audiometry results corrected for patient age show an inherent upward-sloping configuration of the mean audiometric curve at all time points during the disease. The hearing pattern differs between unilateral and bilateral disease. The audiometric curve configuration may be an indicator of future bilateral disease.

12 Article Novel mutations in the USH1C gene in Usher syndrome patients. 2010

Aparisi, María José / García-García, Gema / Jaijo, Teresa / Rodrigo, Regina / Graziano, Claudio / Seri, Marco / Simsek, Tulay / Simsek, Enver / Bernal, Sara / Baiget, Montserrat / Pérez-Garrigues, Herminio / Aller, Elena / Millán, José María. ·Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS-La Fe, Valencia, Spain. ·Mol Vis · Pubmed #21203349.

ABSTRACT: PURPOSE: Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population. METHODS: Thirty-three patients were screened for mutations in the USH1C gene by direct sequencing. Some had already been screened for mutations in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found. RESULTS: Two novel mutations were found in the USH1C gene: a non-sense mutation (p.C224X) and a frame-shift mutation (p.D124TfsX7). These mutations were found in a homozygous state in two unrelated USH1 patients. CONCLUSIONS: In the present study, we detected two novel pathogenic mutations in the USH1C gene. Our results suggest that mutations in USH1C are responsible for 1.5% of USH1 disease in patients of Spanish origin (considering the total cohort of 65 Spanish USH1 patients since 2005), indicating that USH1C is a rare form of USH in this population.

13 Article [Clinical characteristics of tinnitus in Ménière's disease]. 2010

Romero Sánchez, Iballa / Pérez Garrigues, Herminio / Rodríguez Rivera, Verónica. ·Servicio de Otorrinolaringología, Hospital Universitario La Fe, Valencia, España. iballa_cmt@hotmail.com ·Acta Otorrinolaringol Esp · Pubmed #20832768.

ABSTRACT: INTRODUCTION: Ménière's disease is characterised by vertigo, hearing loss and tinnitus. Various studies assess the problem of vertigo and audition deficit in Ménière's disease, but only a few of these relate to the clinical characteristics of tinnitus, the aim of this study. MATERIAL AND METHODS: A transversal descriptive study of the behaviour of tinnitus in 88 patients in different stages of Ménière's disease treated in a tertiary hospital was carried out. The different characteristics of disease were analysed: intensity was evaluated with an analogue-visual scale, subjective tonality through tonal shade references, the impact on the patient's quality of life was tested by a self-appraisal questionnaire, and competence level was evaluated with the Tinnitus Handicap Inventory. Epidemiologic factors, personal records, hearing thresholds and evolution in the number of vertiginous crises in the previous six months were also taken into account. RESULTS: The average time of evolution of the disease was 15.4 years. The results evidence the development of tinnitus of moderate intensity (5/10) and low frequency (46%), with a slight impact on quality of life. Worsening in the quality of life related to hearing affectation and/or advanced stages of the disease was also observed. We identified high frequency tonality, a medical record of depression and youth as unfavourable prognostic factors. There was no relationship found with the years of evolution of the disease or with the number of vertigo crises. CONCLUSION: In large samples of long evolution Ménière's disease, patients do not perceive tinnitus as a problem that produces serious impairment in their quality of life.