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Hearing Disorders: HELP
Articles by Jose Antonio Lopez-Escamez
Based on 33 articles published since 2009
(Why 33 articles?)
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Between 2009 and 2019, J. A. Lopez-Escamez wrote the following 33 articles about Hearing Disorders.
 
+ Citations + Abstracts
Pages: 1 · 2
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 Genetic contribution to vestibular diseases. 2018

Gallego-Martinez, Alvaro / Espinosa-Sanchez, Juan Manuel / Lopez-Escamez, Jose Antonio. ·Otology and Neurotology Group CTS495, Department of Genomic Medicine, Centre for Genomics and Oncological Research-Pfizer/University of Granada/Andalusian Regional Government (GENYO), Avda de la Ilustración, 114, 18016, Granada, Spain. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Granada, Spain. · Otology and Neurotology Group CTS495, Department of Genomic Medicine, Centre for Genomics and Oncological Research-Pfizer/University of Granada/Andalusian Regional Government (GENYO), Avda de la Ilustración, 114, 18016, Granada, Spain. antonio.lopezescamez@genyo.es. · Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Granada, Spain. antonio.lopezescamez@genyo.es. ·J Neurol · Pubmed #29582143.

ABSTRACT: Growing evidence supports the contribution of allelic variation to vestibular disorders. Heritability attributed to rare allelic variants is found in familial vestibular syndromes such as enlarged vestibular aqueduct syndrome or familial Meniere disease. However, the involvement of common allelic variants as key regulators of physiological processes in common and rare vestibular diseases is starting to be deciphered, including motion sickness or sporadic Meniere disease. The genetic contribution to most of the vestibular disorders is still largely unknown. This review will outline the role of common and rare variants in human genome to episodic vestibular syndromes, progressive vestibular syndrome, and hereditary sensorineural hearing loss associated with vestibular phenotype. Future genomic studies and network analyses of omic data will clarify the pathway towards a personalized stratification of treatments.

4 Review Genetics of vestibular syndromes. 2018

Roman-Naranjo, Pablo / Gallego-Martinez, Alvaro / Lopez Escamez, Jose A. ·Otology & Neurotology Group CTS495, Department of Genomic Medicine, Centre for Genomics and Oncological Research - Pfizer/University of Granada/Andalusian Regional Government (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, Granada, Spain. ·Curr Opin Neurol · Pubmed #29095749.

ABSTRACT: PURPOSE OF REVIEW: The increased availability of next generation sequencing has enabled a rapid progress in the discovery of genetic variants associated with vestibular disorders. We have summarized molecular genetics finding in vestibular syndromes during the last 18 months. RECENT FINDINGS: Genetic studies continue to shed light on the genetic background of vestibular disorders. Novel genes affecting brain development and otolith biogenesis have been associated with motion sickness. Exome sequencing has made possible to identify three rare single nucleotide variants in PRKCB, DPT and SEMA3D linked with familial Meniere disease. Moreover, superior canal dehiscence syndrome might be related with variants in CDH3 gene, by increasing risk of its development. On the other hand, the association between vestibular schwannoma and enlarged vestibular aqueduct with variants in NF2 and SLC26A4, respectively, seems increasingly clear. Finally, the use of mouse models is allowing further progress in the development gene therapy for hearing and vestibular monogenic disorders. SUMMARY: Most of episodic or progressive syndromes show familial clustering. A detailed phenotyping with a complete familial history of vestibular symptoms is required to conduct a genetic study. Progress in these studies will allow us to understand diseases mechanisms and improve their current medical treatments.

5 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.

6 Review Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development. 2016

Lopez-Escamez, Jose A / Bibas, Thanos / Cima, Rilana F F / Van de Heyning, Paul / Knipper, Marlies / Mazurek, Birgit / Szczepek, Agnieszka J / Cederroth, Christopher R. ·Otology and Neurotology Group, Department of Genomic Medicine, Pfizer - Universidad de Granada - Junta de Andalucía Centro de Genómica e Investigación Oncológica, PTSGranada, Spain; Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospital Universitario GranadaGranada, Spain. · 1st Department of Otolaryngology, National and Kapodistrian University of Athens, Hippocrateion HospitalAthens, Greece; Ear Institute, UCLLondon, UK. · Department of Clinical Psychological Science, Maastricht University Maastricht, Netherlands. · University Department ENT and Head and Neck Surgery, Antwerp University Hospital, University of Antwerp Antwerp, Belgium. · Hearing Research Centre Tübingen, Molecular Physiology of Hearing Tübingen, Germany. · Tinnitus Center, Charité-Universitätsmedizin Berlin Berlin, Germany. · Department of ORL, Charité-Universitätsmedizin Berlin Berlin, Germany. · Experimental Audiology, Department of Physiology and Pharmacology, Karolinska Institutet Stockholm, Sweden. ·Front Neurosci · Pubmed #27594824.

ABSTRACT: Subjective tinnitus is the perception of sound in the absence of external or bodily-generated sounds. Chronic tinnitus is a highly prevalent condition affecting over 70 million people in Europe. A wide variety of comorbidities, including hearing loss, psychiatric disorders, neurodegenerative disorders, and temporomandibular joint (TMJ) dysfunction, have been suggested to contribute to the onset or progression of tinnitus; however, the precise molecular mechanisms of tinnitus are not well understood and the contribution of genetic and epigenetic factors remains unknown. Human genetic studies could enable the identification of novel molecular therapeutic targets, possibly leading to the development of novel pharmaceutical therapeutics. In this article, we briefly discuss the available evidence for a role of genetics in tinnitus and consider potential hurdles in designing genetic studies for tinnitus. Since multiple diseases have tinnitus as a symptom and the supporting genetic evidence is sparse, we propose various strategies to investigate the genetic underpinnings of tinnitus, first by showing evidence of heritability using concordance studies in twins, and second by improving patient selection according to phenotype and/or etiology in order to control potential biases and optimize genetic data output. The increased knowledge resulting from this endeavor could ultimately improve the drug development process and lead to the preventive or curative treatment of tinnitus.

7 Review Genetics of vestibular disorders: pathophysiological insights. 2016

Frejo, Lidia / Giegling, Ina / Teggi, Roberto / Lopez-Escamez, Jose A / Rujescu, Dan. ·Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, 18016, Granada, Spain. · German Center for Vertigo and Balance Disorders, Munich, Germany. · Department of Otolaryngology, San Raffaelle Scientific Institute, Milan, Italy. · Otology and Neurotology Group CTS495, Department of Genomic Medicine, GENYO - Centre for Genomics and Oncological Research - Pfizer/University of Granada/Junta de Andalucía, PTS, 18016, Granada, Spain. antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Granada University Hospital, 18012, Granada, Spain. antonio.lopezescamez@genyo.es. ·J Neurol · Pubmed #27083884.

ABSTRACT: The two most common vestibular disorders are motion sickness and vestibular migraine, affecting 30 and 1-2% of the population respectively. Both are related to migraine and show a familial trend. Bilateral vestibular hypofunction is a rare condition, and some of patients also present cerebellar ataxia and neuropathy. We present recent advances in the genetics of vestibular disorders with familial aggregation. The clinical heterogeneity observed in different relatives of the same families suggests a variable penetrance and the interaction of several genes in each family. Some Mendelian sensorineural hearing loss also exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28. However, the most relevant finding during the past years is the familial clustering observed in Meniere's disease. By using whole exome sequencing and combining bioinformatics tools, novel variants in DTNA and FAM136A genes have been identified in familial Meniere's disease, and this genomic strategy will facilitate the discovery of the genetic basis of familial vestibular disorders.

8 Review Early Diagnosis and Management of Acute Vertigo from Vestibular Migraine and Ménière's Disease. 2015

Seemungal, Barry / Kaski, Diego / Lopez-Escamez, Jose Antonio. ·Division of Brain Sciences, Charing Cross Hospital, Imperial College London, London, W6 8RF, UK. Electronic address: b.seemungal@imperial.ac.uk. · Division of Brain Sciences, Charing Cross Hospital, Imperial College London, London, W6 8RF, UK. · Otology and Neurotology Group CTS495, Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, Spain. ·Neurol Clin · Pubmed #26231275.

ABSTRACT: Vestibular migraine is the most common cause of acute episodic vestibular symptoms after benign paroxysmal positional vertigo. In contrast, Ménière's disease is an uncommon disorder. For both conditions, early and accurate diagnosis (or its exclusion) enables the correct management of patients with acute episodic vestibular symptoms. Long-term management of migraine requires changes in lifestyle to avoid triggers of migraine and/or prophylactic drugs if attacks become too frequent. The long-term management of Ménière's disease also involves lifestyle changes (low salt diet), medications (betahistine, steroids), and ablative therapy applied to the diseased ear (eg, intratympanic gentamicin).

9 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.

10 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.

11 Article Systematic review of magnetic resonance imaging for diagnosis of Meniere disease. 2019

Lopez-Escamez, Jose A / Attyé, Arnaud. ·Otology and Neurotology Group CTS495, Department of Genomic Medicine- Centro de Genómica e Investigación Oncológica - Pfizer/Universidad de Granada/Junta de Andalucía (Genyo), PTS, Granada, Spain. · Department of Otolaryngology, Instituto de Investigación Biosanitaria, ibs.Granada, Hospital Universitario Virgen de las Nieves, Granada, Spain. · Department of Neuroradiology and MRI, Grenoble, France. · IRMaGe Facility, Grenoble Alps University, Grenoble, France. ·J Vestib Res · Pubmed #31356219.

ABSTRACT: The diagnostic criteria for Meniere Disease (MD) are clinical and include two categories: definite MD and probable MD, based on clinical examination and without the necessity of advanced vestibular or audiological testing. The condition is a heterogeneous disorder and it is associated with endolymphatic hydrops (EH), an accumulation of endolymph in the inner ear that causes damage to the ganglion cells. Patients with suspected EH can be examined by Magnetic Resonance Imaging (MRI), offering new insights into these inner ear disorders. Results of imaging studies using the hydrops protocols show conflicting results in MD patients. These discrepancies can be dependent either on the MRI sequence parameters or on the method of hydrops grading or the inclusion criteria to select patients. The visualization of EH can be classified based on a semi-quantitative ratio between endolymph and perilymph liquids, or on the distinction between the saccule and the utricle structures. In addition, MRI can also be used to evaluate whether cochleovestibular nerves can present with imaging signs of axonal loss.In this systematic review, we have selected case-controlled studies to better characterize the potential added value in the diagnosis and management of patients with MD. Using different techniques, studies have identified the saccule as the most specifically involved structure in MD, and saccular hydrops seems to be associated with low to medium-tone sensorineural hearing loss degree. However, early symptoms still appear too subtle for identification using MRI and the reproducibility of the hydrops protocols with various MRI scan manufacturers is debatable, thus limiting expansion of these techniques into clinical practice for the diagnosis of MD at this time.Further research is needed. The future inclusion of semicircular canal hydrops location in the imaging signs and the application of MRI in patients with atypical presentations hold promise.

12 Article Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. 2019

Gallego-Martinez, Alvaro / Requena, Teresa / Roman-Naranjo, Pablo / Lopez-Escamez, Jose A. ·Otology and Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENyO), Pfizer, University of Granada, Andalusian Regional Government, Granada, Spain. · Department of Otolaryngology, Instituto de Investigación Biosanitaria (ibs. GRANADA), Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada, Spain. ·Front Genet · Pubmed #30828346.

ABSTRACT: Meniere's disease (MD) is a clinical spectrum of rare disorders characterized by vertigo attacks, associated with sensorineural hearing loss (SNHL) and tinnitus involving low to medium frequencies. Although it shows familial aggregation with incomplete phenotypic forms and variable expressivity, most cases are considered sporadic. The aim of this study was to investigate the burden for rare variation in SNHL genes in patients with sporadic MD. We conducted a targeted-sequencing study including SNHL and familial MD genes in 890 MD patients to compare the frequency of rare variants in cases using three independent public datasets as controls. Patients with sporadic MD showed a significant enrichment of missense variants in SNHL genes that was not found in the controls. The list of genes includes

13 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.

14 Article Clinical Features, Familial History, and Migraine Precursors in Patients With Definite Vestibular Migraine: The VM-Phenotypes Projects. 2018

Teggi, Roberto / Colombo, Bruno / Albera, Roberto / Asprella Libonati, Giacinto / Balzanelli, Cristiano / Batuecas Caletrio, Angel / Casani, Augusto / Espinoza-Sanchez, Juan Manuel / Gamba, Paolo / Lopez-Escamez, Jose A / Lucisano, Sergio / Mandalà, Marco / Neri, Giampiero / Nuti, Daniele / Pecci, Rudy / Russo, Antonio / Martin-Sanz, Eduardo / Sanz, Ricardo / Tedeschi, Gioacchino / Torelli, Paola / Vannucchi, Paolo / Comi, Giancarlo / Bussi, Mario. ·ENT Department, San Raffaele Scientific Hospital, Milan, Italy. · Headache Unit, Department of Neurology, San Raffaele Scientific Hospital, Milan, Italy. · Dipartimento di Scienze, Chirurgiche Università di Torino, Turin, Italy. · U.O.S.D. "Vestibologia e Otorinolaringoiatria" Presidio Ospedaliero "Giovanni Paolo II,", Policoro, MT, Italy. · Department of Otolaryngology, Spedali Civili, University of Brescia, Brescia, Italy. · Otoneurology Unit, Department of Otorhinolaryngology, University Hospital of Salamanca, IBSAL, Salamanca, Spain; Skull Base Unit, Department of Otorhinolaryngology, University Hospital of Salamanca, IBSAL, Salamanca, Spain. · Department of Otorhinolaryngology-Pisa University Medical School Otorhinolaryngology, Pisa University Medical School, Pisa, Italy. · Otology and Neurotology Group, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Junta de Andalucia, Granada, Spain. · Department of Otolaryngology, Hospital San Agustin, Linares, Jaen, Spain. · Department of Otorhinolaryngology-Head and Neck Surgery, Poliambulanza Foundation Hospital, Brescia, Italy. · Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research, Pfizer/University of Granada/Junta de Andalucia, PTS, Granada, Spain. · Division of Otoneurology, Department of Otolaryngology, Hospital Universitario Virgen de las Nieves, Granada, Spain. · Otology and Skull Base Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy. · Department of Neurosciences, Imaging and Clinical Sciences, University of Chieti-Pescara, Chieti, Italy. · Unit of Audiology, Department of Surgical Sciences and Translational Medicine, Careggi Hospital, University of Florence, Florence, Italy. · University of Campania Luigi Vanvitelli, Naples, Italy. · Department of Otolaryngology, University Hospital of Getafe, Madrid, Spain. · Department of Neurosciences, Headache Centre, University of Parma, Parma, Italy. ·Headache · Pubmed #29205326.

ABSTRACT: OBJECTIVE: The aim of this work was to assess through a questionnaire the features of vertiginous episodes, accompanying symptoms, familial history, and migraine precursors in a sample of 252 subjects with a diagnosis of definite vestibular migraine. BACKGROUND: Migraine is a common neurological disorder characterized by episodic headaches with specific features. About two-thirds of cases run in families, and patients may refer symptoms occurring in infancy and childhood, defined as episodic syndromes that may be associated with migraine. Migraine is associated with episodic vertigo, called vestibular migraine, whose diagnosis mainly relies on clinical history showing a temporary association of symptoms. METHODS: In this cross-sectional multicentric study, 252 subjects were recruited in different centers; a senior specialist through a structured questionnaire assessed features of vestibular symptoms and accompanying symptoms. RESULTS: The age of onset of migraine was 23 years, while onset of vertigo was at 38 years. One hundred and eighty-four subjects reported internal vertigo (73%), while 63 subjects (25%) reported external vertigo. The duration of vertigo attacks was less than 5 minutes in 58 subjects (23%), between 6 and 60 minutes in 55 (21.8%), between 1 and 4 hours in 29 (11.5%), 5 and 24 hours in 44 (17.5%), up to 3 days in 14 (5.5%), and more than 3 days in seven (2.8%); 14 subjects (5.5%) referred attacks lasting from less than 5 minutes and up to 1 hour, nine (3.6%) referred attacks lasting from less than 5 minutes and up to 1 to 4 hours, six (2.4%) referred attacks lasting from less than 5 minutes and up to 5 to 24 hours, and five (2%) cases referred attacks lasting from less than 5 minutes and up to days. Among accompanying symptoms, patients referred the following usually occurring, in order of frequency: nausea (59.9%), photophobia (44.4%), phonophobia (38.9%), vomiting (17.8%), palpitations (11.5%), tinnitus (10.7%), fullness of the ear (8.7%), and hearing loss (4%). In total, 177 subjects referred a positive family history of migraine (70.2%), while 167 (66.3%) reported a positive family history of vertigo. In the sample, 69% of patients referred at least one of the pediatric precursors, in particular, 42.8% of subjects referred motion sickness. The age of onset of the first headache was lower in the subsample with a familial history of migraine than in the total sample. Among the pediatric precursors, benign paroxysmal vertigo - BPV, benign paroxysmal torticollis, and motion sickness were predictive of a lower age of onset of vertigo in adulthood; cyclic vomiting was predictive for vomiting during vertigo attacks in adults. CONCLUSIONS: Our results may indicate that vestibular symptoms in pediatric patients may act as a predisposing factor to develop vestibular migraine at an earlier age in adulthood.

15 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.

16 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.

17 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 --

18 Article Clinical Subgroups in Bilateral Meniere Disease. 2016

Frejo, Lidia / Soto-Varela, Andres / Santos-Perez, Sofía / Aran, Ismael / Batuecas-Caletrio, Angel / Perez-Guillen, Vanesa / Perez-Garrigues, Herminio / Fraile, Jesus / Martin-Sanz, Eduardo / Tapia, Maria C / Trinidad, Gabriel / García-Arumi, Ana María / González-Aguado, Rocío / Espinosa-Sanchez, Juan M / Marques, Pedro / Perez, Paz / Benitez, Jesus / Lopez-Escamez, Jose A. ·Otology and 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, Division of Otoneurology, Complexo Hospitalario Universitario , Santiago de Compostela , Spain. · Department of Otolaryngology, Complexo Hospitalario de Pontevedra , Pontevedra , Spain. · Department of Otolaryngology, Hospital Universitario Salamanca , Salamanca , Spain. · Department of Otorhinolaryngology, Hospital Universitario La Fe , Valencia , Spain. · Department of Otolaryngology, Hospital Miguel Servet , Zaragoza , Spain. · Department of Otolaryngology, Hospital Universitario de Getafe , Getafe , Spain. · Department of Otorhinolaryngology, Instituto Antolí Candela , Madrid , Spain. · Department of Otorhinolaryngology, Division of Otoneurology, Complejo Hospitalario Badajoz , Badajoz , Spain. · Department of Otorhinolaryngology, Hospital Universitario Vall d'Hebron , Barcelona , Spain. · Department of Otorhinolaryngology, Hospital Universitario Marqués de Valdecilla , Santander, Cantabria , Spain. · Otology and 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 Otorhinolaryngology, Centro Hospitalar de São João, EPE, University of Porto Medical School , Porto , Portugal. · Department of Otorhinolaryngology, Hospital Cabueñes , Gijón , Spain. · Department of Otolaryngology, Hospital Universitario de Gran Canaria Dr. Negrin , Las Palmas , Spain. · Otology and 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, Instituto de Investigación Biosanitaria ibs.GRANADA, Complejo Hospitalario Universidad de Granada (CHUGRA), Granada, Spain. ·Front Neurol · Pubmed #27822199.

ABSTRACT: Meniere disease (MD) is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms, and tinnitus associated with several comorbidities, such as migraine or autoimmune disorders (AD). The frequency of bilateral involvement may range from 5 to 50%, and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD (BMD) to identify the best predictors to define clinical subgroups with a potential different etiology to improve the phenotyping of BMD and to develop new treatments. We have defined five clinical variants in BMD. Group 1 is the most frequently found, includes 46% of patients, and is defined by metachronic hearing loss without migraine and without AD. Group 2 is found in 17% of patients, and it is defined by synchronic hearing loss without migraine or AD. Group 3, with 13% of patients, is characterized by familial MD, while group 4, that includes 12% of patients, is associated by the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by AD. This approach can be helpful in selecting patients for genetic and clinical research. However, further studies will be required to improve the phenotyping in these clinical variants for a better understanding of the diverse etiological factors contributing to BMD.

19 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

20 Article [Diagnostic criteria for Menière's disease. Consensus document of the Bárány Society, the Japan Society for Equilibrium Research, the European Academy of Otology and Neurotology (EAONO), the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) and the Korean Balance Society]. 2016

Lopez-Escamez, José 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. ·Grupo de Otología y Otoneurotología CTS495, Department of Genomic Medicine, Centre for Genomics and Oncology Research, Pfizer, Universidad de Granada, Junta de Andalucía (GENyO), PTS, Department of Otolaryngology, Hospital de Poniente, El Ejido, Almería, España. Electronic address: antonio.lopezescamez@genyo.es. · Department of Otolaryngology, Head and Neck Surgery, John Hopkins University School of Medicine, Baltimore, MD, EE. UU. · Department of Otolaryngology, Head and Neck Surgery, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seúl, Korea. · Department of Otolaryngology, Head and Neck Surgery Washington University School of Medicine, Saint Louis, MO, EE. UU. · Department of Otolaryngology, University of Lund, Lund, Suecia. · Otology and Skull Base Department, Azienda Ospedaliera Universitaria Senese, Siena, Italia. · Department of Neurology, John Hopkins University School of Medicine, Baltimore, MD, EE. UU. · Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig-Maximilians University, Múnich, Alemania. · Department of Otolaryngology, Tokyo Medical University, Tokyo, Japón. · Department of Neurology, Centre Hospitalier Emile Mayrisch, Esch-sur-Alzette, Luxemburgo, Luxemburgo. ·Acta Otorrinolaringol Esp · Pubmed #26277738.

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 2 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 12h. 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 24h.

21 Article Accompanying Symptoms Overlap during Attacks in Menière's Disease and Vestibular Migraine. 2014

Lopez-Escamez, Jose Antonio / Dlugaiczyk, Julia / Jacobs, Julien / Lempert, Thomas / Teggi, Roberto / von Brevern, Michael / Bisdorff, Alexandre. ·Otology and Neurotology Group CTS495, Department of Genomic Medicine, Centre for Genomics and Oncology Research, Pfizer/Universidad de Granada/Junta de Andalucía (GENyO) , Granada , Spain ; Department of Otolaryngology, Hospital de Poniente, El Ejido , Almeria , Spain. · Department of Otorhinolaryngology, Saarland University Medical Center , Homburg , Germany. · Public Research Centre for Health (CRP-Santé), Center for Health Studies , Luxembourg , Luxembourg. · Department of Neurology, Schlosspark-klinik , Berlin , Germany. · ENT Division, San Raffaele Scientific Institute , Milan , Italy. · Department of Neurology, Park-Klinik Weissensee , Berlin , Germany. · Department of Neurology, Centre Hospitalier Emile Mayrisch , Esch-sur-Alzette , Luxembourg. ·Front Neurol · Pubmed #25566172.

ABSTRACT: Menière's disease and vestibular migraine (VM) are the most common causes of spontaneous recurrent vertigo. The current diagnostic criteria for the two disorders are mainly based on patients' symptoms, and no biological marker is available. When applying these criteria, an overlap of the two disorders is occasionally observed in clinical practice. Therefore, the present prospective multicenter study aimed to identify accompanying symptoms that may help to differentiate between MD, VM, and probable vestibular migraine (pVM). Two hundred and sixty-eight patients were included in the study (MD: n = 119, VM: n = 84, pVM: n = 65). Patients with MD suffered mainly from accompanying auditory symptoms (tinnitus, fullness of ear, and hearing loss), while accompanying migraine symptoms (migraine-type headache, photo-/phonophobia, visual aura), anxiety, and palpitations were more common during attacks of VM. However, it has to be noted that a subset of MD patients also experienced (migraine-type) headache during the attacks. On the other hand, some VM/pVM patients reported accompanying auditory symptoms. The female/male ratio was statistically higher in VM/pVM as compared to MD, while the age of onset was significantly lower in the former two. The frequency of migraine-type headache was significantly higher in VM as compared to both pVM and MD. Accompanying headache of any type was observed in declining order in VM, pVM, and MD. In conclusion, the present study confirms a considerable overlap of symptoms in MD, VM, and pVM. In particular, we could not identify any highly specific symptom for one of the three entities. It is rather the combination of symptoms that should guide diagnostic reasoning. The identification of common symptom patterns in VM and MD may help to refine future diagnostic criteria for the two disorders.

22 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.

23 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.

24 Article Hearing and vestibular disorders in patients with systemic lupus erythematosus. 2013

Batuecas-Caletrío, A / del Pino-Montes, J / Cordero-Civantos, C / Calle-Cabanillas, M I / Lopez-Escamez, J A. ·Department of Otolaryngology, IBSAL, Hospital Universitario Salamanca, Spain. abatuc@yahoo.es ·Lupus · Pubmed #23423252.

ABSTRACT: OBJECTIVES: Systemic lupus erythematosus (SLE) is associated with several comorbidities, including hearing and vestibular disorders. We recently described an increase of SLE prevalence in patients with Menierés disease (MD). The aim of this study is to explore if a subset of SLE patients may have a common inner ear disorder and determine the potential relationship with migraine. METHODS; Eighty-nine patients with SLE (according to the American College of Rheumatology criteria for the diagnosis of SLE) were evaluated for audiovestibular symptoms by a telephone interview carried out by two experienced otoneurologists. Twenty-one patients with SLE were referred to the otoneurology clinic for a detailed clinical history for criteria assessment for MD and a complete audiovestibular examination (audiogram, oculomotor, and caloric testing with video-oculography). RESULTS: Recurrent headache was found in 50/89 patients, and 26 of them had diagnostic criteria for migraine. Twenty-four percent of patients reported sensorineural hearing loss (SNHL) or episodic vertigo. Among the eight patients (9%) with episodic vertigo, one had criteria for definite MD and another two patients had criteria for possible MD. SNHL was found to be associated with a history of episodic vertigo (Fisher's test, p=0.02), but not with headache or migraine. SLE and episodic vertigo were not associated with tinnitus, migraine, lupus nephritis, antinuclear antibodies or antiphospholipid syndrome. CONCLUSIONS: Migraine, SNHL and episodic vertigo are comorbid conditions in patients with SLE, but migraine is not associated with SNHL or vertigo in these patients. However, SNHL and vertigo are associated conditions in SLE, suggesting a common audiovestibular dysfunction.

25 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.

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