Jose A Lopez-Escamez

Jose A Lopez-Escamez
Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica | GENYO · Otology and Neurotology Research Group

MD, PhD
Professor Otolaryngology, Universidad de Granada Neurotology, Hospital Virgen de las Nieves, Genyo, ibs.GRANADA

About

216
Publications
86,119
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
4,582
Citations
Additional affiliations
May 2018 - April 2020
Instituto de Investigacion Biosanitario de Granada (ibs.GRANADA)
Position
  • Managing Director
January 2012 - present
University of Granada
Position
  • PhD supervisor Biomedicine Doctorate
February 2011 - present
Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica
Position
  • Principal Investigator

Publications

Publications (216)
Article
Low-frequency sensorineural hearing loss (SNHL) is a rare hearing impairment affecting frequencies below 1000 Hz, previously associated with DIAPH1, WSF1, MYO7A, TNC, SLC26A4 or CCDC50 genes. By exome sequencing, we report a novel nonsense variant in CENPP gene, segregating low-frequency SNHL in five affected members in a Swiss family with autosoma...
Article
Full-text available
Tinnitus disorder is a bothersome perception of a composite noise or tone in the ears in the absence of an external source, associated with emotional distress, cognitive dysfunction, and/or autonomic arousal [...]
Preprint
Full-text available
Background Meniere’s disease (MD) is an inner ear disease defined by episodes of vertigo associated with sensorineural hearing loss initially affecting low- to medium frequencies, tinnitus, and aural fullness. Familial aggregation has been reported in 9-10% of MD patients showing, mostly, an autosomal dominant inheritance pattern with incomplete pe...
Article
Full-text available
Background: Tinnitus is a heterogeneous condition. The aim of this study as to compare the online and hospital responses to the Spanish version of European School for Interdisciplinary Tinnitus Research screening-questionnaire (ESIT-SQ) in tinnitus individuals by an unsupervised age clustering. Methods: A cross-sectional study was performed incl...
Article
Full-text available
Meniere disease (MD) is a rare set of conditions associated with the accumulation of endolymph in the cochlear duct and the vestibular labyrinth with a decrease of endocochlear potential. It is considered a chronic inflammatory disorder of the inner ear with a multifactorial origin. The clinical syndrome includes several groups of patients with a c...
Article
Full-text available
Background Tinnitus represents a relatively common condition in the global population accompanied by various comorbidities and severe burden in many cases. Nevertheless, there is currently no general treatment or cure, presumable due to the heterogeneity of tinnitus with its wide variety of etiologies and tinnitus phenotypes. Hence, most treatment...
Article
Full-text available
Objectives: Meniere disease (MD) is defined by a clinical syndrome of recurrent attacks of spontaneous vertigo associated with tinnitus, aural fullness, and sensorineural hearing loss (SNHL). Most patients have unilateral SNHL, but some of them will develop contralateral SNHL during the course of the disease. Several studies have reported a freque...
Article
Full-text available
Meniere Disease (MD) is a multifactorial disorder of the inner ear characterized by vertigo attacks associated with sensorineural hearing loss and tinnitus with a significant heritability. Although MD has been associated with several genes, no epigenetic studies have been performed on MD. Here we performed whole-genome bisulfite sequencing in 14 MD...
Preprint
Full-text available
Meniere Disease (MD) is a multifactorial disorder of the inner ear characterized by vertigo attacks associated with sensorineural hearing loss and tinnitus with a significant heritability. Although MD has been associated with several genes, no epigenetic studies have been performed in MD. Here we performed whole genome bisulfite sequencing in 14 MD...
Article
Full-text available
Background: Meniere disease (MD) is an inner ear disorder associated with comorbidities such as autoimmune diseases or migraine. This study describes clinical and cytokine profiles in MD according to the age of onset of the condition. Methods: A cross-sectional study including 83 MD patients: 44 with early-onset MD (EOMD, <35 years old), and 39...
Preprint
Full-text available
Background: Meniere disease (MD) is an inner ear disorder associated with comorbidities such as autoimmune diseases or migraine. This study describes clinical and cytokine profile in MD according to the age of onset of the condition. Methods: A cross-sectional study including 83 MD patients: 44 with early onset MD (EOMD, <35 years old), and 39 with...
Article
Full-text available
The MYO7A gene encodes a motor protein with a key role in the organization of stereocilia in auditory and vestibular hair cells. Rare variants in the MYO7A (Myosin VIIa) gene may cause autosomal dominant (AD) or autosomal recessive (AR) sensorineural hearing loss (SNHL) accompanied by vestibular dysfunction and/or retinitis pigmentosa (Usher syndro...
Article
Full-text available
Despite the huge progress in the definition and classification of vestibular disorders within the last decade, there are still patients whose recurrent vestibular symptoms cannot be attributed to any of the recognized episodic vestibular syndromes, such as Menière's disease (MD), vestibular migraine (VM), benign paroxysmal positional vertigo (BPPV)...
Article
The original version of this chapter unfortunately contained two errors: in author name and order of author.
Preprint
Full-text available
Background Tinnitus represents a relatively common condition in the global population accompanied by various comorbidities and severe burden in many cases. Nevertheless, there is currently no general treatment or cure, presumable due to the heterogeneity of tinnitus with its wide variety of etiologies and tinnitus phenotypes. Hence, most treatment...
Article
Full-text available
Background: tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies...
Article
Introduction: Vestibular migraine (VM) is a complex disease characterized by recurrent episodes of migraine associated with vertigo attacks that are observed in 1-3% of the general population. According to its high prevalence and the impact on the health system, it is important to characterize these patients, in order to offer an accurate diagnosis...
Chapter
Background: Residual Inhibition is considered as tinnitus alteration immediately after exposure to sound. Its clinical significance and correlation with the pathophysiology and treatment prognosis of tinnitus remain enigmatic. The objective of this review is to critically appraise scientific evidence regarding the residual inhibition prevalence and...
Chapter
This volume has highlighted the many recent advances in tinnitus theory, models, diagnostics, therapies, and therapeutics. But tinnitus knowledge is far from complete. In this chapter, contributors to the Behavioral Neuroscience of Tinnitus consider emerging topics and areas of research needed in light of recent findings. New research avenues and m...
Article
Full-text available
We present diagnostic criteria for motion sickness, visually induced motion sickness (VIMS), motion sickness disorder (MSD), and VIMS disorder (VIMSD) to be included in the International Classification of Vestibular Disorders. Motion sickness and VIMS are normal physiological responses that can be elicited in almost all people, but susceptibility a...
Article
Full-text available
The stria vascularis generates the endocochlear potential and is involved in processes that underlie ionic homeostasis in the cochlear endolymph, both which play essential roles in hearing. The histological hallmark of Meniere's disease (MD) is endolymphatic hydrops, which refers to the bulging or expansion of the scala media, which is the endolymp...
Chapter
Tinnitus is the perception of a phantom sound and the patient's reaction to it. Although much progress has been made, tinnitus remains a scientific and clinical enigma of high prevalence and high economic burden, with an estimated prevalence of 10%–20% among the adult population. The EU is funding a new collaborative project entitled “Unification o...
Chapter
As for hypertension, chronic pain, epilepsy and other disorders with particular symptoms, a commonly accepted and unambiguous definition provides a common ground for researchers and clinicians to study and treat the problem. The WHO's ICD11 definition only mentions tinnitus as a nonspecific symptom of a hearing disorder, but not as a clinical entit...
Chapter
Balance disorders include a large number of syndromes and diseases that affect the central or peripheral vestibular pathways, the cerebellum, or the sensory pathways associated with proprioception. Such disorders usually present with one of two mayor symptoms: vertigo or ataxia. The aim of this chapter is to offer a general overview of the pharmaco...
Article
Full-text available
Congenital cytomegalovirus (CMV) infection induces a clinical syndrome usually associated with hearing loss. However, the effect of acquired CVM infection in adults and children has not been clearly defined. The objective of this review is to critically appraise scientific evidence regarding the association of acquired CMV infection with postnatal...
Article
Full-text available
Familial Meniere Disease (FMD) is a rare inner ear disorder characterized by episodic vertigo associated with sensorineural hearing loss, tinnitus and/or aural fullness. We conducted a systematic review to find sequencing studies segregating rare variants in FMD to obtain evidence to support candidate genes for MD. After evaluating the quality of t...
Article
Full-text available
Meniere disease (MD) represents a heterogeneous group of relatively rare disorders of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL) involving low and medium frequencies, tinnitus, and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based o...
Article
Full-text available
Twin and adoption studies point towards a genetic contribution to tinnitus; however, how the genetic risk applies to different forms of tinnitus is poorly understood. Here, we perform a familial aggregation study and determine the relative recurrence risk for tinnitus in siblings (λs). Four different Swedish studies (N = 186,598) were used to estim...
Article
Full-text available
The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish...
Article
Full-text available
Exome sequencing has been commonly used to characterize rare diseases by selecting multiplex families or singletons with an extreme phenotype (EP) and searching for rare variants in coding regions. The EP strategy covers both extreme ends of a disease spectrum and it has been also used to investigate the contribution of rare variants to the heritab...
Article
Full-text available
Background: Vestibular migraine (VM) is complex disorder consisting of episodes of migraine and vertigo with an estimated prevalence of 1–3%. As migraine, it is considered that VM has genetic predisposition; however, evidence to support a genetic contribution has not been critically appraised. Objective: The aim of this systematic review is to asse...
Article
Full-text available
Many individuals with tinnitus report experiencing hyperacusis (enhanced sensitivity to sounds). However, estimates of the association between hyperacusis and tinnitus is lacking. Here, we investigate this relationship in a Swedish study. A total of 3645 participants (1984 with tinnitus and 1661 without tinnitus) were enrolled via LifeGene, a study...
Chapter
Tinnitus is the abnormal perception of sound that affects more than 15% of adult population around the globe. Severe tinnitus is considered a complex disorder that arises as result of the interaction of genetic and environmental factors, and it is associated with several comorbidities such as hearing loss, anxiety, and insomnia. We begin this revie...
Preprint
Full-text available
Exome sequencing has been commonly used in rare diseases by selecting multiplex families or singletons with an extreme phenotype (EP) to search for rare variants in coding regions. The EP strategy covers both extreme ends of a disease spectrum and it has been also used to investigate the contribution of rare variants to heritability in complex clin...
Article
Introduction The term Meniere disease (MD) gathers a set of rare diseases involving the inner ear characterized by episodic vertigo associated with fluctuating auditory symptoms. Five clinical subgroups of patients have been defined, including familial MD, autoimmune MD, and MD with migraine. The diagnosis is based on clinical criteria as no biomar...
Article
Full-text available
The heterogeneity of tinnitus is likely accounting for the lack of effective treatment approaches. Headaches have been related to tinnitus, yet little is known on how headaches impact tinnitus. We use cross-sectional data from the Swedish Tinnitus Outreach Project to i) evaluate the association between headaches and tinnitus (n = 1,984 cases and 1,...
Article
Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo, and tinnitus. Familial MD has been reported in 6 to 9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA3D, and DPT have been involved in single families, suggesting genetic heterogeneity. In this study...
Article
Tinnitus is the perception of sound in the absence of an external source. Genetic studies on families, twins, and adoptees cohorts have been conducted supporting tinnitus heritability, with higher heritability in men with bilateral tinnitus at any age, and young women with bilateral tinnitus, but not in unilateral tinnitus. The condition is associa...
Article
Meniere's disease (MD) is a set of uncommon disorders with core phenotype of tinnitus, episodic vertigo, and sensorineural hearing loss. MD shows a genetic predisposition and a family history is found in 10% cases, with an autosomal dominant inheritance pattern. It is a multifactorial condition whose onset and development are triggered by the combi...
Article
Meniere's disease (MD) is a complex disorder of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL), tinnitus and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms and the demonstratio...
Article
Full-text available
Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translate...
Article
Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translate...
Preprint
Full-text available
Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo and tinnitus. Familial MD has been reported in 6-9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA3D and DPT have been involved in single families, suggesting genetic heterogeneity. In this study, the...
Article
Introduction Meniere’s disease (MD) is a rare inner ear disorder with a significant genetic contribution defined by a core phenotype: episodic vertigo, sensorineural hearing loss and tinnitus. It has been mostly described in sporadic cases, familial cases being around 10% of the observed individuals. It is associated with an accumulation of endolym...
Article
Tinnitus is a heterogeneous condition in Meniere’s Disease. The type of tinnitus in Meniere’s Disease ranged from pure tones to noise‐like tinnitus (white, brown and pink noise). Meniere’s Disease patients with tonal tinnitus present higher scores in Tinnitus Handicap Inventory compared to Meniere’s Disease patients with noise‐like tinnitus. There...
Book
Full-text available
Tinnitus is the perception of a sound when no external sound is present. The severity of tinnitus varies but it can be debilitating for many patients. With more than 100 million people with chronic tinnitus worldwide, tinnitus is a disorder of high prevalence. The increased knowledge in the neuroscience of tinnitus has led to the emergence of promi...
Article
Full-text available
Vestibular Migraine (VM) and Meniere's Disease (MD) are episodic vestibular syndromes defined by a set of associated symptoms such as tinnitus, hearing loss or migraine features during the attacks. Both conditions may show symptom overlap and there is no biological marker to distinguish them. Two subgroups of MD patients have been reported, accordi...
Article
Vestibular medicine is emerging as a recognized discipline to increase diagnostic accuracy in vestibular disorders. During the last decade, the discipline has been coordinated by the Bárány Society, an international multidisciplinary scientific society, originally founded in 1960, that includes basic scientists and clinicians engaged in vestibular...
Article
Background: The heterogeneity of tinnitus is substantial. Its numerous pathophysiological mechanisms and clinical manifestations have hampered fundamental and treatment research significantly. A decade ago, the Tinnitus Research Initiative introduced the Tinnitus Sample Case History Questionnaire, a case history instrument for standardised collect...
Article
Full-text available
Purpose of review: To provide an update on the most frequent peripheral vestibular disorders. Recent findings: The on-going classification of vestibular disorders by the Bárány Society represents major progress. The diagnosis of bilateral vestibulopathy (BVP) requires quantitative testing of vestibular function. 'Acute unilateral peripheral vest...
Article
Full-text available
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 s...
Article
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...
Article
Benign paroxysmal positional vertigo is the most frequent episodic vestibular disorder. The purpose of this guide, requested by the committee on otoneurology of the Spanish Society of Otolaryngology and Head and Neck Surgery, is to supply a consensus document providing practical guidance for the management of BPPV. It is based on the Barany Society...
Article
Full-text available
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 processe...
Article
Full-text available
Introduction Publishing in scientific journals is an indicator of hospital quality and has become a standard of excellence for medical doctors and institutions. The aim of the study is to identify the scientific publications performed by Otolaryngology Departments in Spain within the period 2011–2015 and to compare them to a previous period between...
Preprint
Full-text available
Meniere’s disease (MD) is a clinical spectrum of rare disorders with an estimated prevalence of 75/ 100.000 individuals, characterized by vertigo attacks, associated with sensorineural hearing loss (SNHL) and tinnitus involving low to medium frequencies. Although it shows familial aggregation with variable expressivity with incomplete phenotypic fo...
Article
Full-text available
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...
Article
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 instructio...