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Hearing Disorders: HELP
Articles by Jose Antonio Lopez-Escamez
Based on 20 articles published since 2009
(Why 20 articles?)
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Between 2009 and 2019, J. A. Lopez-Escamez wrote the following 20 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Guideline Diagnostic criteria for Menière's disease. 2015

Lopez-Escamez, Jose A / Carey, John / Chung, Won-Ho / Goebel, Joel A / Magnusson, Måns / Mandalà, Marco / Newman-Toker, David E / Strupp, Michael / Suzuki, Mamoru / Trabalzini, Franco / Bisdorff, Alexandre / Anonymous1830827 / Anonymous1840827 / Anonymous1850827 / Anonymous1860827 / Anonymous1870827. ·Otology and Neurotology Group CTS495, Department of Genomic Medicine, Centre for Genomics and Oncology Research - Pfizer/Universidad de Granada/Junta de Andalucía (GENyO), PTS, Granada, Spain Department of Otolaryngology, Hospital de Poniente, El Ejido, Almeria, Spain. · Department of Otolaryngology, Head and Neck Surgery, John Hopkins University School of Medicine, Baltimore, MD, USA. · Department of Otolaryngology, Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan Univerisity School of Medicine, Seoul, Korea. · Department of Otolaryngology, Head and Neck Surgery, Washington University School of Medicine, Saint Louis, MO, USA. · Department of Otolaryngology, University of Lund, Lund, Sweden. · Otology and Skull Base Department, Azienda Ospedaliera Universitaria Senese, Siena, Italy. · Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD, USA. · Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig-Maximilians University, Munich, Germany. · Department of Otolaryngology, Tokyo Medical University, Tokyo, Japan. · Department of Neurology, Centre Hospitalier Emile Mayrisch, Esch-sur-Alzette, Luxembourg. ·J Vestib Res · Pubmed #25882471.

ABSTRACT: This paper presents diagnostic criteria for Menière's disease jointly formulated by the Classification Committee of the Bárány Society, The Japan Society for Equilibrium Research, the European Academy of Otology and Neurotology (EAONO), the Equilibrium Committee of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) and the Korean Balance Society. The classification includes two categories: definite Menière's disease and probable Menière's disease. The diagnosis of definite Menière's disease is based on clinical criteria and requires the observation of an episodic vertigo syndrome associated with low- to medium-frequency sensorineural hearing loss and fluctuating aural symptoms (hearing, tinnitus and/or fullness) in the affected ear. Duration of vertigo episodes is limited to a period between 20 minutes and 12 hours. Probable Menière's disease is a broader concept defined by episodic vestibular symptoms (vertigo or dizziness) associated with fluctuating aural symptoms occurring in a period from 20 minutes to 24 hours.

2 Review Towards personalized medicine in Ménière's disease. 2018

Lopez-Escamez, Jose Antonio / Batuecas-Caletrio, Angel / Bisdorff, Alexandre. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine, Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain. · Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. · Department of Otolaryngology, Instituto de Investigación Biosanitaria, ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada, Spain. · Department of Otolaryngology, Hospital Universitario de Salamanca, IBSAL, Salamanca, Spain. · Clinique du Vertige, Centre Hospitalier Emile Mayrisch, Esch-sur-Alzette, Luxembourg. ·F1000Res · Pubmed #30430003.

ABSTRACT: Ménière's disease (MD) represents a heterogeneous group of relatively rare disorders with three core symptoms: episodic vertigo, tinnitus, and sensorineural hearing loss involving 125 to 2,000 Hz frequencies. The majority of cases are considered sporadic, although familial aggregation has been recognized in European and Korean populations, and the search for familial MD genes has been elusive until the last few years. Detailed phenotyping and cluster analyses have found several clinical predictors for different subgroups of patients, which may indicate different mechanisms, including genetic and immune factors. The genes associated with familial MD are

3 Review [Diagnostic criteria for Menière's disease according to the Classification Committee of the Bárány Society]. 2017

Lopez-Escamez, J A / Carey, J / Chung, W-H / Goebel, J A / Magnusson, M / Mandalà, M / Newman-Toker, D E / Strupp, M / Suzuki, M / Trabalzini, F / Bisdorff, A. ·Otology and Neurotology Group CTS495, Department of Genomic Medicine - Centre for Genomics and Oncology Research, Pfizer/Universidad de Granada/Junta de Andalucía (GENyO), PTS Avda de la Ilustracion 114, 18016, Granada, Spanien. antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Hospital de Poniente, El Ejido, Spanien. antonio.lopezescamez@genyo.es. · Department of Otolaryngology - Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA. · Department of Otolaryngology, Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Südkorea. · Department of Otolaryngology - Head and Neck Surgery, Washington University School of Medicine, Saint Louis, MO, USA. · Department of Otolaryngology, University of Lund, Lund, Schweden. · Otology and Skull Base Department, Azienda Ospedaliera Universitaria Senese, Siena, Italien. · Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD, USA. · Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig-Maximilians University, München, Deutschland. · Department of Otolaryngology, Tokyo Medical University, Tokyo, Japan. · Department of Neurology, Centre Hospitalier Emile Mayrisch, Esch an der Alzette, Luxemburg. ·HNO · Pubmed #28770282.

ABSTRACT: This paper presents diagnostic criteria for Menière's disease jointly formulated by the Classification Committee of the Bárány Society, The Japan Society for Equilibrium Research, the European Academy of Otology and Neurotology (EAONO), the Equilibrium Committee of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) and the Korean Balance Society. The classification includes two categories: definite Menière's disease and probable Menière's disease. The diagnosis of definite Menière's disease is based on clinical criteria and requires the observation of an episodic vertigo syndrome associated with low- to medium-frequency sensorineural hearing loss and fluctuating aural symptoms (hearing, tinnitus and/or fullness) in the affected ear. Duration of vertigo episodes is limited to a period between 20 min and 12 h. Probable Menière's disease is a broader concept defined by episodic vestibular symptoms (vertigo or dizziness) associated with fluctuating aural symptoms occurring in a period from 20 min to 24 h.

4 Review Perspectives for the treatment of sensorineural hearing loss by cellular regeneration of the inner ear. 2015

Almeida-Branco, Mario S / Cabrera, Sonia / Lopez-Escamez, Jose A. ·Grupo de Otología y Otoneurología CTS495, Área de Medicina Genómica-Centro de Genómica e Investigación Oncológica-Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, España; Servicio de Otorrinolaringología, Hospital Universitario Granada, Granada, España. · Grupo de Otología y Otoneurología CTS495, Área de Medicina Genómica-Centro de Genómica e Investigación Oncológica-Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, España. · Grupo de Otología y Otoneurología CTS495, Área de Medicina Genómica-Centro de Genómica e Investigación Oncológica-Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, España; Departamento de Otorrinolaringología, Hospital de Poniente, El Ejido, Almería, España. Electronic address: antonio.lopezescamez@genyo.es. ·Acta Otorrinolaringol Esp · Pubmed #25459416.

ABSTRACT: Sensorineural hearing loss is a caused by the loss of the cochlear hair cells with the consequent deafferentation of spiral ganglion neurons. Humans do not show endogenous cellular regeneration in the inner ear and there is no exogenous therapy that allows the replacement of the damaged hair cells. Currently, treatment is based on the use of hearing aids and cochlear implants that present different outcomes, some difficulties in auditory discrimination and a limited useful life. More advanced technology is hindered by the functional capacity of the remaining spiral ganglion neurons. The latest advances with stem cell therapy and cellular reprogramming have developed several possibilities to induce endogenous regeneration or stem cell transplantation to replace damaged inner ear hair cells and restore hearing function. With further knowledge of the cellular and molecular biology of the inner ear and its embryonic development, it will be possible to use induced stem cells as in vitro models of disease and as replacement cellular therapy. Investigation in this area is focused on generating cellular therapy with clinical use for the treatment of profound sensorineural hearing loss.

5 Review [Pharmacotherapy for tinnitus: much ado about nothing]. 2014

Espinosa-Sánchez, Juan M / Heitzmann-Hernández, Teresa / López-Escámez, José A. ·Hospital San Agustin, Linares, Espana. ·Rev Neurol · Pubmed #25059267.

ABSTRACT: INTRODUCTION: Chronic tinnitus affects 5-15% of the general population; in 1% of individuals with tinnitus this condition severely affects their quality of life. Pharmacological treatment is one of the options for the management of tinnitus patients, but their efficacy remains controversial. AIM. To evaluate the level of evidence to support the use of different drugs in reducing the severity of tinnitus. DEVELOPMENT: The pharmacological groups that have been investigated for the treatment of tinnitus include anesthetics, anticonvulsants, antidepressants, antihistamines, benzodiazepines, diuretics, corticosteroids, and of other substances. Intravenous lidocaine seems to be effective, but the short duration of the effect and the adverse reactions prevent its use. Compared with placebo, carbamazepine and gabapentine have not demonstrated effectiveness although they may be effective in some patients with auditory nerve vascular compression or myoclonus. Tricyclic antidepressants are no more effective than placebo at reducing tinnitus severity although they may improve comorbid depression. There is insufficient evidence to evaluate the effectiveness of selective serotonin reuptake inhibitors and benzodiazepines. Acamprosate may decrease the severity of tinnitus, but the level of evidence is low. There are no consistent results in the studies with intratympanic gentamicin or steroids in tinnitus associated with Meniere's disease. CONCLUSIONS: The use of pharmacotherapy in reducing the severity of tinnitus is not well supported by prospective, randomized, placebo-controlled clinical trials. Various drugs have been shown to be effective in some studies, but the clinical evidence is limited. Large randomized clinical trials are needed.

6 Article Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research. 2019

Szczepek, Agnieszka J / Frejo, Lidia / Vona, Barbara / Trpchevska, Natalia / Cederroth, Christopher R / Caria, Helena / Lopez-Escamez, Jose A. ·Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany. · Department of ORL, Head and Neck Surgery, Berlin Institute of Health, Berlin, Germany. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/Junta de Andalucía (GENyO), Granada, Spain. · Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany. · Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. · Biosystems and Integrative Sciences Institute (BioISI), Lisbon, Portugal. · Biomedical Sciences Department, School of Health, Polytechnic Institute of Setubal, Setubal, Portugal. · Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. · Department of Otolaryngology, Instituto de Investigación Biosanitaria, ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Granada, Spain. ·Ear Hear · Pubmed #29889665.

ABSTRACT: OBJECTIVES: Research on the genetic basis of tinnitus is still in its first steps. A group of scientists dedicated to tinnitus genetics within European Tinnitus Network (TINNET) network recognize that further progress requires multicenter collaborative efforts for defining contributing genes. The purpose of the present work is to provide instructions regarding collection, processing, storage, and shipment of samples intended for genetic studies in auditory research. DESIGN: One part of the recommendations has a general character; another part is of particular importance for auditory healthcare practitioners such as otolaryngology physicians, audiologists, and general practitioners. RESULTS: We provide a set of instructions and various options for obtaining samples. We give advice regarding sample processing, storage, and shipment and define the minimal and essential clinical information that should accompany the samples collected for genetic processing. CONCLUSIONS: These recommendations offer a basis to standardize and optimize collaborations between geneticists and healthcare practitioners specialized in tinnitus and hearing disorders.

7 Article Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort. 2017

Maas, Iris Lianne / Brüggemann, Petra / Requena, Teresa / Bulla, Jan / Edvall, Niklas K / Hjelmborg, Jacob V B / Szczepek, Agnieszka J / Canlon, Barbara / Mazurek, Birgit / Lopez-Escamez, Jose A / Cederroth, Christopher R. ·Department of Psychosomatic Medicine, Center for Internal Medicine and Dermatology, Charité-Universitätsmedizin Berlin, Berlin, Germany. · Tinnitus Center, Charité-Universitätsmedizin Berlin, Berlin, Germany. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Center for Genomics and Oncological Research-Pfizer, University of Granada, Junta de Andalucía, PTS, Granada, Spain. · Department of Mathematics, University of Bergen, Bergen, Norway. · Experimental Audiology, Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. · Department of Epidemiology, Biostatistics and Biodemography, University of Southern Denmark, Odense, Denmark. · Department of ORL, Head and Neck Surgery, Research Laboratory, Charité-Universitätsmedizin Berlin, Berlin, Germany. · Department of Otolaryngology, Complejo Hospitalario Universidad de Granada (CHUGRA), ibs.granada, Granada, Spain. ·Genet Med · Pubmed #28333916.

ABSTRACT: PURPOSE: Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). METHODS: Cross-sectional data from the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total variance attributable to genetic factors) were calculated using biometrical model fitting procedures. RESULTS: Stratification of tinnitus cases into subtypes according to laterality (unilateral versus bilateral) revealed that heritability of bilateral tinnitus was 0.56; however, it was 0.27 for unilateral tinnitus. Heritability was greater in men (0.68) than in women (0.41). However, when female pairs younger than 40 years of age were selected, heritability of 0.62 was achieved with negligible effects of shared environment. CONCLUSION: Unlike unilateral tinnitus, bilateral tinnitus is influenced by genetic factors and might constitute a genetic subtype. Overall, our study provides the initial evidence for a tinnitus phenotype with a genetic influence.Genet Med advance online publication 23 March 2017.

8 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 / Anonymous8990895. ·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.

9 Article High-frequency sensorineural hearing loss associated with vestibular episodic syndrome. 2017

Martin-Sanz, E / Esteban, J / Vaduva, C / Sanz, R / Lopez-Escamez, J A. ·Department of Otolaryngology, University Hospital of Getafe, Madrid, Spain. · Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/ Junta de Andalucía, PTS, Granada, Spain. · Department of Otolaryngology, Complejo Hospitalario Universitario, University of Granada, Granada, Spain. ·Clin Otolaryngol · Pubmed #27443791.

ABSTRACT: -- No abstract --

10 Article A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease. 2016

Martín-Sierra, Carmen / Requena, Teresa / Frejo, Lidia / Price, Steven D / Gallego-Martinez, Alvaro / Batuecas-Caletrio, Angel / Santos-Pérez, Sofía / Soto-Varela, Andrés / Lysakowski, Anna / Lopez-Escamez, Jose A. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain. · Dept. of Anatomy and Cell Biology, Univ. of Illinois at Chicago, Chicago, IL 60612, USA. · Department of Otolaryngology, Hospital Universitario Salamanca 37007, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela 15706, Spain. · Dept. of Otolaryngology-Head and Neck Surgery, Univ. of Illinois at Chicago, Chicago IL 60612, USA. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, Granada 18016, Spain antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospitalario Universidad de Granada (CHUGRA) Granada 18016, Spain. ·Hum Mol Genet · Pubmed #27329761.

ABSTRACT: Meniere's Disease (MD) is a complex disorder associated with an accumulation of endolymph in the membranous labyrinth in the inner ear. It is characterized by recurrent attacks of spontaneous vertigo associated with sensorineural hearing loss (SNHL) and tinnitus. The SNHL usually starts at low and medium frequencies with a variable progression to high frequencies. We identified a novel missense variant in the PRKCB gene in a Spanish family with MD segregating low-to-middle frequency SNHL. Confocal imaging showed strong PKCB II protein labelling in non-sensory cells, the tectal cells and inner border cells of the rat organ of Corti with a tonotopic expression gradient. The PKCB II signal was more pronounced in the apical turn of the cochlea when compared with the middle and basal turns. It was also much higher in cochlear tissue than in vestibular tissue. Taken together, our findings identify PRKCB gene as a novel candidate gene for familial MD and its expression gradient in supporting cells of the organ of Corti deserves attention, given the role of supporting cells in K

11 Article Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease. 2014

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. ·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 Neurology, Icahn School of Medicine at Mount Sinai, New York City, New York, United States of America. · Group of Genetics of Complex Diseases, 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 Gran Canaria Dr Negrin, Las Palmas, Spain. · Department of Otolaryngology, Clinica Universidad de Navarra, Pamplona, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complejo Hospitalario Badajoz, Badajoz, Spain. · Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain. · Department of Otolaryngology, Hospital Universitario de Getafe, Getafe, Spain. · Department of Otolaryngology, Hospital Miguel Servet, Zaragoza, Spain. · Department of Otorhinolaryngology, Hospital Cabueñes, Gijón, Spain. · Department of Otolaryngology, Hospital Universitario Salamanca, Salamanca, Spain. · 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 Otorhinolaryngology, Hospital San Agustin, Linares, Jaen, Spain. · Department of Otolaryngology, Complexo Hospitalario de Pontevedra, Pontevedra, Spain. · 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 de Poniente, El Ejido, Almería, Spain. ·PLoS One · Pubmed #25397881.

ABSTRACT: 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.

12 Article Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 2014

Shearer, A Eliot / Eppsteiner, Robert W / Booth, Kevin T / Ephraim, Sean S / Gurrola, José / Simpson, Allen / Black-Ziegelbein, E Ann / Joshi, Swati / Ravi, Harini / Giuffre, Angelica C / Happe, Scott / Hildebrand, Michael S / Azaiez, Hela / Bayazit, Yildirim A / Erdal, Mehmet Emin / Lopez-Escamez, Jose A / Gazquez, Irene / Tamayo, Marta L / Gelvez, Nancy Y / Leal, Greizy Lopez / Jalas, Chaim / Ekstein, Josef / Yang, Tao / Usami, Shin-ichi / Kahrizi, Kimia / Bazazzadegan, Niloofar / Najmabadi, Hossein / Scheetz, Todd E / Braun, Terry A / Casavant, Thomas L / LeProust, Emily M / Smith, Richard J H. ·Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. · Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA. · Agilent Technologies, Cedar Creek, TX 78612, USA. · Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg, VIC 3084, Australia. · Department of Otolaryngology, Faculty of Medicine, Medipol University, Istanbul 34083, Turkey. · Department of Medical Biology and Genetics, University of Mersin, Mersin 33160, Turkey. · Otology and Neurotology Group CTS495, Center for Genomic and Oncological Research (GENyO), Granada 18012, Spain. · Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá 11001000, Colombia. · Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY 11204, USA. · Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY 11211, USA. · Department of Otorhinolaryngology-Head and Neck Surgery, Xinhua Hospital, and the Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai 20025, China. · Department of Otorhinolaryngology, School of Medicine, Shinshu University, Matsumoto, Nagano 390-8621, Japan. · Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran. · Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA; Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, IA 52242, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA. · Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address: richard-smith@uiowa.edu. ·Am J Hum Genet · Pubmed #25262649.

ABSTRACT: Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and dbSNP to generate a comprehensive list of reported pathogenic NSHL variants and re-evaluated these variants in the context of 8,595 individuals from 12 populations and 6 ethnically distinct major human evolutionary phylogenetic groups from three sources (Exome Variant Server, 1000 Genomes project, and a control set of individuals created for this study, the OtoDB). Of the 2,197 reported pathogenic deafness variants, 325 (14.8%) were present in at least one of the 8,595 controls, indicating a minor allele frequency (MAF) > 0.00006. MAFs ranged as high as 0.72, a level incompatible with pathogenicity for a fully penetrant disease like NSHL. Based on these data, we established MAF thresholds of 0.005 for autosomal-recessive variants (excluding specific variants in GJB2) and 0.0005 for autosomal-dominant variants. Using these thresholds, we recategorized 93 (4.2%) of reported pathogenic variants as benign. Our data show that evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity. The proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL. All data are publicly available to facilitate interpretation of genetic variants causing deafness.

13 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.

14 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.

15 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.

16 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.

17 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.

18 Article Vestibular evoked myogenic potentials and health-related quality of life in patients with vestibular neuritis. 2010

Viciana, David / Lopez-Escamez, Jose A. ·Otology and Neurotology Group CTS495, Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain. ·Otol Neurotol · Pubmed #20684061.

ABSTRACT: OBJECTIVE: To evaluate the usefulness of vestibular evoked myogenic potentials (VEMPs) in subjects with vestibular neuritis (VN) and to determine the impact of the disease in health-related quality of life (HRQoL). STUDY DESIGN: Case series. SETTING: Tertiary referral center. PATIENTS: Fifty patients with VN (episode of sudden onset of prolonged vertigo [>24 h] associated with peripheral vestibular hypofunction, imbalance in absence of hearing loss, or other neurologic symptoms). INTERVENTION: VEMPs were measured in 41 patients by using an air-conducted 500 Hz tone burst. HRQoL was evaluated in all cases by the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36) and Dizziness Handicap Inventory Short Form (DHI-S) instruments, after the acute episode was resolved. MAIN OUTCOME MEASURE: Latencies P1 or N1 peaks, corrected amplitude or the absence of response, for VEMPs; scores obtained in SF-36 and DHI-S instruments. RESULTS: VEMPs showed abnormal results in 21 (51%) of 41 cases, with an increase in ipsilateral latencies for P1 and N1 peaks being the most common finding. Three patients (7%) had ipsilateral abnormal VEMP response with normal caloric response, indicating isolated involvement of inferior vestibular nerve. The total score obtained for the DHI-S was 14.76 +/- 11.07 (range, 0-34/40), suggesting a variable impact among patients with VN. For the SF-36, scores in men with VN were worse than their age-matched controls for all dimensions, except for mental health. However, women only showed lower scores for general health and social function. CONCLUSION: Abnormal VEMP responses demonstrate the involvement of the inferior vestibular nerve in half of the patients with VN. Moreover, VN has a moderate impact in HRQoL, and it is perceived more disabling by men than women.

19 Article Impact of bilaterality and headache on health-related quality of life in Meniere's disease. 2009

Lopez-Escamez, Jose A / Viciana, David / Garrido-Fernandez, Pablo. ·Otology and Neurotology Group CTS495, Dept of Otolaryngology, Hospital de Poniente de Almeria, Ctra de Almerimar s/n, 04700 El Ejido, Almería, Spain. ·Ann Otol Rhinol Laryngol · Pubmed #19663372.

ABSTRACT: OBJECTIVES: We analyzed the impact of bilaterality and headache on the health-related quality of life (HRQL) of patients with Meniere's disease (MD). METHODS: A case series including 86 patients with a diagnosis of definite MD according to the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) diagnostic criteria was evaluated by the Short Form 36 (SF-36) Health Instrument and the Dizziness Handicap Inventory Short Form (DHI-S). RESULTS: The scores on all scales of the SF-36 were significantly lower for bilateral MD than for unilateral cases, except for body pain. Both groups had scores worse than those of their sex- and age-matched normative population on all SF-36 scales (p = 0.017 to p = 0.0001), except for body pain in men. The DHI-S scores were also better for unilateral than for bilateral cases (p = 0.04), suggesting that the dizziness is perceived to be more disabling in bilateral MD. Migraine was significantly associated with bilateral MD (odds ratio, 3.58 [95% confidence interval, 1.25 to 10.31]; p = 0.021). Headache and score on the AAO-HNS functional scale, which evaluates the effect of vertigo attacks on daily activities, were two independent factors that explained a great part of the variability on all SF-36 scales, except for "role emotional" in bilateral MD. CONCLUSIONS: Patients with bilateral MD perceived their dizziness to be more disabling and had a worse HRQL than did patients with unilateral MD. Migraine was more frequently found in patients with bilateral involvement. Headache and score on the AAO-HNS functional scale were factors associated with the HRQL in bilateral MD.

20 Minor Migraine, sudden sensorineural hearing loss and autoimmune ear disease. 2013

Espinosa-Sanchez, Juan M / Lopez-Escamez, Jose A. ·Department of Otorhinolaryngology, Hospital San Agustin, Spain. ·Cephalalgia · Pubmed #23615491.

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