An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.

Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of familial MD (FMD) has been reported, being 9-10% in Europeans compared to 6% in East Asians. A broad genetic heterogeneity in FMD has been described, OTOG being the most common mutated gene, with a compound heterozygous recessive inheritance. We hypothesize that an OTOG-related founder effect may explain the higher prevalence of FMD in the European population. Therefore, the present study aimed to compare the allele frequency (AF) and distribution of OTOG rare variants across different populations. For this purpose, the coding regions with high constraint (low density of rare variants) were retrieved in the OTOG coding sequence in Non-Finnish European (NFE).. Missense variants (AF < 0.01) were selected from a 100 FMD patient cohort, and their population AF was annotated using gnomAD v2.1. A linkage analysis was performed, and odds ratios were calculated to compare AF between NFE and other populations. Thirteen rare missense variants were observed in 13 FMD patients, with 2 variants (rs61978648 and rs61736002) shared by 5 individuals and another variant (rs117315845) shared by two individuals. The results confirm the observed enrichment of OTOG rare missense variants in FMD. Furthermore, eight variants were enriched in the NFE population, and six of them were in constrained regions. Structural modeling predicts five missense variants that could alter the otogelin stability. We conclude that several variants reported in FMD are in constraint regions, and they may have a founder effect and explain the burden of FMD in the European population.

Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.

PURPOSE: To describe the clinical, audiological, and psychometric features observed in patients with chronic tinnitus and rare variants in the ANK2 gene. METHODS: We report a case series of 12 patients with chronic tinnitus and heterozygous variants in the ANK2 gene. Tinnitus phenotyping included audiological (standard and high-frequency audiometry, Auditory Brainstem Responses (ABR) and Auditory Middle Latency Responses (AMLR)), psychoacoustic and psychometric assessment by a Visual Analog Scale (VAS) for tinnitus annoyance, the Tinnitus Handicap Inventory (THI), the test on Hypersensitivity to Sound (THS-GÜF), the Patient Health Questionnaire (PHQ-9), the Hospital Anxiety and Depression Scale (HADS) and the Montreal Cognitive Assessment (MoCA). RESULTS: All patients reported a persistent, unilateral noise-type tinnitus, mainly described as white noise or narrowband noise. Seven patients (58%) were considered to have extreme phenotype (THI score > 76), and all patients reported some degree of hyperacusis (THS-GÜF score > 18 in 75% of patients). Seven patients scored MoCA < 26, regardless of the age reported, suggesting a mild cognitive disorder. ABR showed no significant differences in latencies and amplitudes between ears with or without tinnitus. Similarly, the latencies of Pa, Pb waves, and NaPa complex in the AMLR did not differ based on the presence of tinnitus. However, there were statistical differences in the amplitudes of Pa waves in AMLR, with significantly greater amplitudes observed in ears with tinnitus. CONCLUSION: Patients with ANK2 variants and severe tinnitus exhibit an endophenotype featuring hyperacusis, persistent noise-like tinnitus, high-frequency hearing loss, and decreased amplitudes in AMLR. However, anxiety, depression, and cognitive symptoms vary among individuals.

Treatment of Meniere's disease with simultaneous triple semicircular canal occlusion and cochlear implantation.

OBJECTIVE: Report three cases of simultaneous triple semicircular canal occlusion (TSCO) and cochlear implantation (CI) as the treatment of intractable Meniere's disease (MD). CASE REPORTS: Patients with MD can present occasionally with intractable vertigo and profound sensorineural hearing loss (SNHL). TSCO and CI have been proposed to control vertigo and restore profound deafness in patients with MD separately. However, a few studies have reported simultaneous TSCO and CI in the same surgical procedure for the treatment of MD. In the present study, we described three patients with MD showing incapacitating vertigo and severe SNHL who underwent simultaneous TSCO and CI after examinations of auditory system, vestibular system, and imaging. Their symptoms were significantly alleviated during the follow-up period. CONCLUSION: The combined TSCO and CI remains a viable treatment option which is effective for the control of vertigo as well as the restoring of hearing in patients with MD.

A systematic review on the contribution of DNA methylation to hearing loss.

BACKGROUND: DNA methylation may have a regulatory role in monogenic sensorineural hearing loss and complex, polygenic phenotypic forms of hearing loss, including age-related hearing impairment or Meniere disease. The purpose of this systematic review is to critically assess the evidence supporting a functional role of DNA methylation in phenotypes associated with hearing loss. RESULTS: The search strategy yielded a total of 661 articles. After quality assessment, 25 records were selected (12 human DNA methylation studies, 5 experimental animal studies and 8 studies reporting mutations in the DNMT1 gene). Although some methylation studies reported significant differences in CpG methylation in diverse gene promoters associated with complex hearing loss phenotypes (ARHI, otosclerosis, MD), only one study included a replication cohort that supported a regulatory role for CpG methylation in the genes TCF25 and POLE in ARHI. Conversely, several studies have independently confirmed pathogenic mutations within exon 21 of the DNMT1 gene, which encodes the DNA (cytosine-5)-methyltransferase 1 enzyme. This methylation enzyme is strongly associated with a rare disease defined by autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN). Of note, rare variants in DNMT1 and DNMT3A genes have also been reported in noise-induced hearing loss. CONCLUSIONS: Evidence supporting a functional role for DNA methylation in hearing loss is limited to few genes in complex disorders such as ARHI. Mutations in the DNMT1 gene are associated with ADCA-DN, suggesting the CpG methylation in hearing loss genes deserves further attention in hearing research.

Update on the pathophysiology, diagnosis and management of Ménière's disease.

PURPOSE OF THE REVIEW: The aim of this work is to summarize the main advances on the pathophysiology, diagnosis, and treatment of Meniere's disease (MD). RECENT FINDINGS: Different immune responses to biotic stimuli may trigger MD, with subgroups identified based on cytokine and genetic profile, suggesting potential benefits from immune therapy, including antiallergic medication. Genetic and epigenetic research, along with imaging studies, reveal the complexity of MD, involving inflammation, immunity, and metabolic processes. Advanced imaging techniques define specific temporal bone features and endolymphatic hydrops, while machine learning models enhance diagnostic accuracy through clinical and laboratory data analysis. Differentiating MD from vestibular migraine remains challenging due to overlapping symptoms, but combining vestibular tests, audiological assessments, and biomarkers like cytokines and chemokines shows promise. Pharmacological treatments such as betahistine or corticosteroids show varying effectiveness and require further research according to immune subgroups. Surgical options like endolymphatic sac decompression, semicircular canal occlusion and labyrinthectomy are restricted to intractable cases. SUMMARY: Research into MD aims to improve diagnosis and treatment through genetic, immunological, and advanced imaging studies. Current treatments include pharmacological, intratympanic, and surgical interventions, but current research supports a personalized approach based on clinical and molecular re-definition of patient subgroups.

A Systematic Review on the Genetic Contribution to Tinnitus.

PURPOSE: To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus. METHODS: After a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved. Studies that did not include data on hearing assessment were excluded. Relative frequencies were used for qualitative variables to compare different studies and to obtain average values. Genetic variants and genes were listed and clustered according to their potential role in tinnitus development. RESULTS: The average prevalence of tinnitus estimated from population-based studies was 26.3% for any tinnitus, and 20% of patients with tinnitus reported it as an annoying symptom. One study has reported population-specific differences in the prevalence of tinnitus, the white ancestry being the population with a higher prevalence. Genome-wide association studies have identified and replicated two common variants in the Chinese population (rs2846071; rs4149577) in the intron of TNFRSF1A, associated with noise-induced tinnitus. Moreover, gene burden analyses in sequencing data from Spanish and Swede patients with severe tinnitus have identified and replicated ANK2, AKAP9, and TSC2 genes. CONCLUSIONS: The genetic contribution to tinnitus is starting to be revealed and it shows population-specific effects in European and Asian populations. The common allelic variants associated with tinnitus that showed replication are associated with noise-induced tinnitus. Although severe tinnitus has been associated with rare variants with large effect, their role on hearing or hyperacusis has not been established.

A Systematic Review on Heritability of Sudden Sensorineural Hearing Loss.

OBJECTIVE: To assess the evidence supporting the heritability and genetic basis of sudden sensorineural hearing loss (SSNHL). DATA SOURCE: Records were extracted from PubMed, Scopus, and Cochrane databases. REVIEW METHODS: The protocol was registered on PROSPERO (CRD42022357389) and includes a systematic review on the genetic contribution to SSNHL. The search strategy yielded 1.483 articles from electronic databases. After quality assessment, 34 records were selected, including 369.650 patients with SSNHL from nine prevalence studies, two familial aggregation studies, one twin study, and 22 genetic studies. The prevalence of SSNHL was calculated from data on its incidence from population-based studies (period prevalence). To evaluate the heritability of SSNHL, the sibling recurrence risk ratio (λs) was calculated, by comparing the prevalence of SSNHL among siblings within the same generation to the estimated prevalence in the overall population. Genetic variants were grouped, based on the pathological mechanism related to SSNHL. RESULTS: The prevalence of SSNHL ranged from 0.1% to 0.0003% in America to 0.12%-0.0093% in Asia. The estimated sibling recurrence risk ratio for SSNHL (λs = 20.8-83.3) supports a significant familial aggregation. Although several genetic variants were reported to be associated with SSHL in controlled studies, neither was replicated in an independent cohort. CONCLUSIONS: Evidence supporting heritability of SSNHL is limited to epidemiological studies showing prevalence differences across different populations and familial aggregation. Genetic studies are of low quality and they lack replication cohort to confirm their findings. According to its low prevalence, exome or genome sequencing familial-based studies are needed to identify rare genetic variants in SSNHL. LEVEL OF EVIDENCE: NA Laryngoscope, 134:3447-3457, 2024.

Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease.

Meniere disease (MD) is a debilitating disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. Severe tinnitus, which occurs in around 1% of patients, is a multiallelic disorder associated with a burden of rare missense single nucleotide variants in synaptic genes. Rare structural variants (SVs) may also contribute to MD and severe tinnitus. In this study, we analyzed exome sequencing data from 310 MD Spanish patients and selected 75 patients with severe tinnitus based on a Tinnitus Handicap Inventory (THI) score > 68. Three rare deletions were identified in two unrelated individuals overlapping the ERBB3 gene in the positions: NC_000012.12:g.56100028_56100172del, NC_000012.12:g.56100243_56101058del, and NC_000012.12:g.56101359_56101526del. Moreover, an ultra-rare large duplication was found covering the AP4M1, COPS6, MCM7, TAF6, MIR106B, MIR25, and MIR93 genes in another two patients in the NC_000007.14:g.100089053_100112257dup region. All the coding genes exhibited expression in brain and inner ear tissues. These results confirm the contribution of large SVs to severe tinnitus in MD and pinpoint new candidate genes to get a better molecular understanding of the disease.

Análisis de la producción científica en otorrinolaringología en España durante el periodo 2011-2015 / Analysis of scientific production in otolaryngology in Spain in the period 2011-2015

INTRODUCCIÓN: La publicación de artículos científicos es un indicador de calidad del hospital y se ha convertido en un criterio de excelencia entre los indicadores clínicos que acreditan a un profesional o a una institución. Se evaluaron las publicaciones científicas realizadas en los servicios de otorrinolaringología españoles durante el período 2011-2015 comparándolas con el periodo 1998-2002. MATERIAL Y MÉTODOS: Se extrajeron los artículos de Pubmed publicados por los servicios de ORL de España en el periodo 2011-2015, clasificándose según el tipo de revista (Acta Otorrinolaringológica Española o internacional) y el área de conocimiento: otología, audiología y otoneurología, cirugía de cabeza y cuello incluyendo oncología, rinología y ORL pediátrica. Se estableció un ranking de hospitales considerando el número total de originales, el factor de impacto acumulado y el número total de publicaciones. RESULTADOS: En el periodo 2011-2015 se han identificado 49.342 publicaciones, de las cuales el 1,44% proceden de España, mientras que entre 1998-2002 el 3,80% proceden de España. De los 712 artículos hay 389 publicados en Acta Otorrinolaringológica Española y 323 internacionales. De estas últimas el 20,7% pertenecen a la sección de otología, el 19,2% a audiología-otoneurología, el 30,6% a cirugía de cabeza y cuello, el 15,2% a rinología y el 3,4% ORL pediátrica. Cinco centros hospitalarios publicaron al menos 10 artículos originales en el período estudiado. CONCLUSIONES: La producción científica de la ORL española a nivel internacional ha descendido en los últimos 12 años. Se observa un fenómeno de concentración en determinados centros, asociado a un incremento considerable del factor de impacto acumulado

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 1998-2002. MATERIAL AND METHODS: Original papers published by Otolaryngology Departments in Spain in PubMed within 2011-2015 were retrieved. They were classified according to the type of journal published (international or Acta ORL Española) and the following subspecialty areas: Otology, Audiology and Neuro-Otology, Head and Neck Surgery (including Oncology), Rhinology and Paediatric ENT. Hospitals were ranked according to: number of original papers, accumulated impact factor and total number of publications. RESULTS: Between 2011 and 2015, 49342 publications were included in PubMed, 1.44% from Otolaryngology Departments in Spain. Between 1998 and 2002, 3.80% publications were from Spanish ENT departments. Of the 712 papers published within the period 2011-2015, 389 were published in Acta ORL Española and 323 in international journals. From the latter, 20.7% belong to the Otology area, 19.2% to Audiology-Neuro-otology, 30.6% to Head and Neck Surgery, 15.2% to Rhinology and 3.4% to Paediatric ENT. Five tertiary centres published at least 10 original papers in the same period. CONCLUSIONS: Spanish otolaryngology's contribution to international journals has decreased in the last 12 years. A few institutions are responsible for the majority of publications and they have notably increased the cumulative impact factor

Guía de Práctica Clínica Para el Diagnóstico y Tratamiento del Vértigo Posicional Paroxístico Benigno. Documento de Consenso de la Comisión de Otoneurología Sociedad Española de Otorrinolaringlogía y Cirugía de Cabeza y Cuello / Practice Guidelines for the Diagnosis and Management of Benign Paroxysmal Positional Vertigo Otoneurology Committee of Spanish Otorhinolaryngology and Head and Neck Surgery Consensus Document

El vértigo posicional paroxístico benigno (VPPB) es la causa más frecuente de vértigo vestibular episódico. EL propósito de esta guía, encomendada por la Comisión de Otoneurología de la SEORL CCC, es disponer de un documento de consenso que sirva de guía práctica para el manejo del VPPB en la clínica diaria. El punto de partida es la clasificación elaborada por la Barany Society, con sus variantes clínicas. Incluye una descripción de las pruebas diagnósticas y de las maniobras terapéuticas para cada una de las variantes establecidas, habiéndose seleccionado aquellas con estudios con nivel adecuado de evidencia o con suficientes series de soporte. Se ha incluido también un capítulo de diagnóstico diferencial, así como un apartado de aspectos generales básicos en el manejo de los pacientes con VPPB

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 criteria for the diagnosis of BPPV. This guideline provides recommendations on each variant of BPPV, with a description of the different diagnostic tests and the therapeutic manoeuvres. For this purpose, we have selected the tests and manoeuvres supported by evidence-based studies or extensive series. Finally, we have also included a chapter on differential diagnosis and a section relating to general aspects in the management of BPPV

Criterios diagnósticos de enfermedad de Menière. Documento de consenso de la Bárány Society, la Japan Society for Equilibrium Research, la European Academy of Otology and Neurotology (EAONO), la American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) y la Korean Balance Society / 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

Este trabajo presenta los criterios diagnósticos de enfermedad de Menière elaborados de forma conjunta por el Comité de Clasificación de los Trastornos Vestibulares de la Bárány Society, la Japan Society for Equilibrium Research, la European Academy of Otology and Neurotology (EAONO), el Comité de Equilibrio de American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) y la Korean Balance Society. La clasificación establece 2 categorías: enfermedad de Menière definida y enfermedad de Menière probable. El diagnóstico de enfermedad de Menière definida se basa en criterios clínicos y requiere la observación de un síndrome vestibular episódico asociado con hipoacusia neurosensorial de frecuencias bajas y medias y síntomas auditivos fluctuantes (hipoacusia, acúfenos o plenitud ótica) en el oído afectado. La duración de los episodios de vértigo se limita a un período entre 20 min y 12 h. La enfermedad de Menière probable es un concepto más amplio definido por síntomas vestibulares episódicos (vértigo o mareo) asociados a síntomas auditivos fluctuantes que ocurren en un periodo entre 20 min y 24 h (AU)

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 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 (AU)

La depresión de la investigación en otorrinolaringología en España tiene solución / The downturn in ENT research in Spain has a solution

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Perspectivas para el tratamiento de la hipoacusia neurosensorial mediante regeneración celular del oído interno / Perspectives for the treatment of sensorineural hearing loss by cellular regeneration of the inner ear

La hipoacusia neurosensorial es un problema que se debe principalmente a la pérdida de células ciliadas cocleares, con la consecuente desaferenciación de las neuronas del ganglio espiral. En los humanos no existe regeneración celular endógena en el oído interno, ni una terapia exógena que permita la sustitución de las células dañadas. El tratamiento actual se basa en las prótesis auditivas y los implantes cocleares. Estos dispositivos presentan resultados variables entre pacientes, con limitaciones en la discriminación auditiva y una vida útil limitada. La tecnología, cada vez más avanzada, está limitada por la capacidad funcional de las neuronas restantes del ganglio espiral. Las terapias emergentes, con células madre y reprogramación celular, han desarrollado varias posibilidades para inducir la regeneración endógena o para trasplantar células madre que puedan sustituir las células dañadas y restaurar la función auditiva. El conocimiento de la biología celular y molecular del oído interno y su desarrollo embrionario permite plantear el uso de células madre inducidas como modelos in vitro de enfermedad y terapia celular sustitutiva. La investigación traslacional en la hipoacusia neurosensorial está orientada al desarrollo de una terapia celular con aplicación clínica para el tratamiento de la hipoacusia neurosensorial profunda (AU)

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 (AU)

Tratamiento farmacológico de los acúfenos: mucho ruido y pocas nueces / Pharmacotherapy for tinnitus: much ado about nothing

Introducción. El 5-15% de la población general presenta acúfenos crónicos, que afectan de manera grave a la calidad de vida del 1% de los casos. El tratamiento farmacológico es una de las opciones terapéuticas en el abordaje de pacientes con acúfenos, aunque su eficacia es controvertida. Objetivo. Evaluar el nivel de evidencia que sustenta el uso de diferentes fármacos para reducir la intensidad de los acúfenos. Desarrollo. Se han revisado varios grupos farmacológicos incluyendo anestésicos, antiepilépticos, antidepresivos, antihistamínicos, benzodiacepinas, diuréticos, corticoides y otras sustancias. La lidocaína intravenosa parece ser eficaz aunque la breve duración de su efecto y la aparición de reacciones adversas han llevado a descartarla. La carbamacepina y la gabapentina no han mostrado eficacia frente a placebo, si bien podrían ser eficaces en algunos pacientes con compresión neurovascular o mioclonías. Los antidepresivos tricíclicos no son más eficaces que el placebo aunque pueden mejorar una depresión coexistente. La evidencia es insuficiente para evaluar la eficacia de los inhibidores selectivos de la recaptación de serotonina y las benzodiacepinas. El acamprosato podría reducir la intensidad de los acúfenos, aunque el nivel de evidencia es bajo. No disponemos de resultados consistentes para el tratamiento de los acúfenos de la enfermedad de Ménière empleando gentamicina intratimpánica o corticoides. Conclusiones. La utilización de medicamentos para reducir la intensidad de los acúfenos no está bien apoyada por ensayos clínicos controlados, aleatorizados y prospectivos. Algunos fármacos son eficaces en algunos estudios, pero la evidencia es limitada. Se necesitan ensayos clínicos aleatorizados más amplios (AU)

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 Ménière’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 (AU)

Migraña vestibular: un diagnóstico emergente / Vestibular migraine: An emerging diagnosis

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Estudio piloto de la salud sexual en pacientes con enfermedad de Ménière / A pilot study of sexual health in patients with Ménière's disease

Introducción y objetivos: La enfermedad de Meniere (EM) es una enfermedad crónica del oído interno que afecta la calidad de vida relacionada con la salud en el 85% de los pacientes. Aunque numerosos trabajos han evaluado el impacto de la EM sobre la calidad de vida, la salud sexual no ha sido investigada en estos pacientes. El objetivo de este trabajo es el estudio de la salud sexual en los pacientes con EM. Métodos: Se ha realizado un estudio piloto transversal, utilizando el cuestionario de salud general SF-36, el Dizziness Handicap Inventory Short Form (DHI-S) y los cuestionarios específicos de la función sexual, el Female Sexual Function Index (FSFI) para mujeres y el Internacional Index of Erectile Function (IIEF) para hombres. El análisis estadístico de los cuestionarios compara las puntuaciones con valores de referencia, así como una correlación entre dominios de los distintos cuestionarios. El nivel de significación aceptado es p < 0,05. Resultados: Se estudiaron 48 individuos (26 mujeres y 22 hombres) con una media de edad de 55 años y un nivel cultural bajo-medio. Los varones mostraban una alta prevalencia de disfunción eréctil, que dobla la media nacional. Las mujeres presentaron alterados los dominios de satisfacción sexual y dolor. En ambos casos, las alteraciones de la función sexual fueron dependientes de los dominios del SF-36 que hacen referencia a problemas emocionales. Conclusiones: Los problemas emocionales asociados a la EM pueden provocar alteraciones de la función sexual, concretamente problemas de deseo sexual en las mujeres y de disfunción eréctil en los hombres (AU)

Introduction and objectives: Ménière's disease (MD) is a chronic disorder of the inner ear affecting health-related quality of life in 85% of patients. Although different studies have evaluated the impact of MD on quality of life, sexual health has not been investigated in these patients. The aim of this study was to assess sexual health in patients with MD. Material and methods: A cross-sectional pilot study was carried out using the general health instrument SF-36, the Dizziness Handicap Inventory Short Form (DHI-S) and two specific questionnaires on sexual functioning, the Female Sexual Function Index (FSFI) for women and the International Index of Erectile Function (IIEF) for men. A statistical analysis of domains of the instruments was performed to compare the score obtained to reference values, and correlation coefficients were calculated to determine the association among different instruments. The level of significance accepted was p<0.05. Results: Forty-eight individuals (26 women and 22 men) with a mean age of 55 and a low-medium culture level were studied. Men showed a high prevalence of erectile dysfunction, twice the national reference values; women had alterations in the sexual satisfaction and pain domains. In both situations, sexual function disorders were dependent upon the SF-36 emotional domains. Conclusions: Emotional problems associated with Ménière's disease may be associated with sexual function disorders, including sexual desire in women and erectile dysfunction in men (AU)

Abordaje práctico del vértigo posicional paroxístico benigno recurrente / Practical approach to recurrent benign paroxysmal positional vertigo

El vértigo posicional paroxístico benigno es el trastorno vestibular más frecuente y tiene un impacto significativo en la calidad de vida relacionada con la salud. Probablemente,l a enfermedad se origina por la acumulación de un material litiásico procedente de la membrana otolítica delutrículo. Los pacientes sufren múltiples crisis de vértigo, que duran segundos, cuando se acuestan o se dan la vuelta en la cama. Existen varias formas clínicas que pueden afectar a los conductos posterior, horizontal o anterior y que en algunos casos afectan a dos conductos simultáneamente. El diagnóstico se realiza mediante el registro video oculográfico del nistagmo posicional al realizar las pruebas posicionales para localizar el conducto afecto. Para cada variante clínica hay maniobras terapéuticas específicas con elevada efectividad a corto plazo (AU)

Benign paroxysmal positional vertigo is the most common vestibular disorder and it has a significant impact on health-related quality of life. The disease is probably caused by the accumulation of lithiasis material from the otolithic membrane of the utricle. Patients experience multiple short vertigo crises lasting seconds when they go to bed or turnover. There are several clinical variants affecting posterior, horizontal or anterior canals and in some cases vestibular lithiasis can occur in two canals simultaneously. Diagnosisis by video-oculographic recording of positional nystagmus during positional tests to identify the canal affected. There are specific treatment man oeuvres for each clinical variant, which a high degree of short-term effectiveness (AU)