OBJECTIVES Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural... more 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, the authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD. DESIGN Exome sequencing data from MD patients were analyzed to search for rare variants in hearing loss genes in a case-control study. A total of 109 patients with MD (73 familial cases and 36 early-onset sporadic patients) diagnosed according to the diagnostic criteria defined by the Barany Society were recruited in 11 hospitals. The allelic frequencies of rare variants in hearing loss genes were calculated in individuals with familial MD. A single rare variant analysis and a gene burden analysis (GBA) were conducted in the dataset selecting 1 patient from each family. Allelic frequencies from European and Spanish reference datasets were used as controls. RESULTS A total of 5136 single-nucleotide variants in hearing loss genes were considered for single rare variant analysis in familial MD cases, but only 1 heterozygous likely pathogenic variant in the OTOG gene (rs552304627) was found in 2 unrelated families. The gene burden analysis found an enrichment of rare missense variants in the OTOG gene in familial MD. So, 15 of 46 families (33%) showed at least 1 rare missense variant in the OTOG gene, suggesting a key role in familial MD. CONCLUSIONS The authors found an enrichment of multiplex rare missense variants in the OTOG gene in familial MD. This finding supports OTOG as a relevant gene in familial MD and set the groundwork for genetic testing in MD.
Introduccion El vertigo posicional paroxistico benigno (VPPB) es el trastorno vestibular mas frec... more Introduccion El vertigo posicional paroxistico benigno (VPPB) es el trastorno vestibular mas frecuente, pero no parece que se lo identifique bien fuera del ambito especializado especifico. Objetivo Determinar el conocimiento del VPPB fuera de la consulta otoneurologica. Pacientes y metodo Estudio retrospectivo de una serie de 69 pacientes con VPPB tratados en la consulta especializada entre junio de 2005 y diciembre de 2006, analizando las rutas de derivacion, sus pormenores y los tiempos transcurridos desde el inicio de los sintomas. Resultados 42 (61 %) pacientes llegaron por la via convencional (atencion primaria-otorrinolaringologo extrahospitalario), 17 (25 %) procedian de urgencias (un tercio fueron ingresados); el resto procedia de consultas de pasillo o durante ingresos por otras causas (el 9 y el 5 %, respectivamente). Solo 1 paciente fue remitido con el diagnostico especifico de VPPB. El tiempo medio de evolucion de los sintomas fue de 20 ± 32 semanas, significativamente mayor (p Conclusiones El VPPB sigue siendo una enfermedad poco conocida en la atencion no especializada, por lo que se retrasan el diagnostico y el tratamiento y se consumen recursos innecesarios para su resolucion.
Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineura... more 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 authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD. Design: Exome sequencing data from MD patients were analyzed to search for rare variants in hearing loss genes in a case-control study. A total of 109 patients with MD (73 familial cases and 36 early-onset sporadic patients) diagnosed according to the diagnostic criteria defined by the Barany Society were recruited in 11 hospitals. The allelic frequencies of rare variants in hearing loss genes were calculated in individuals with familial MD. A single rare variant analysis (SRVA) and a gene burden analysis (GBA) were conducted i...
Meniere’s disease is an episodic vestibular syndrome associated with sensorineural hearing loss (... more 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-kB pathway, such as REL, TNFAIP3, NFKB1 and TNIP1, have been associated with two or more
Benign Paroxysmal Positional Vertigo is the most frequent episodic vestibular disorder. The purpo... more 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.
ABSTRACT IntroductionIn 2008, the Otoneurology committee of the SEORL-PCF published a classificat... more ABSTRACT IntroductionIn 2008, the Otoneurology committee of the SEORL-PCF published a classification of peripheral vertigo, based on clinical criteria. The objective of this study was to validate this classification through analysing the diagnostic agreement among several medical assessors.
Benign paroxysmal positional vertigo (BPPV) is the most frequent episodic vestibular disorder. It... more Benign paroxysmal positional vertigo (BPPV) is the most frequent episodic vestibular disorder. It is due to otolith rests that are free into the canals or attached to the cupulas. Well over 90% of patients can be successfully treated with manoeuvres that move the particles back to the utriculus. Among the great variety of procedures that have been described, the manoeuvres that are supported by evidenced-based studies or extensive series are commented in this review. Some topics regarding BPPV treatment, such as controlling the accuracy of the procedures or the utility of post-manoeuvre restrictions are also discussed.
espanolEl etanol puede producir nistagmo y vertigo por un mecanismo de flotacion cupular, plantea... more espanolEl etanol puede producir nistagmo y vertigo por un mecanismo de flotacion cupular, planteando el diagnostico diferencial con vertigos posicionales atipicos o centrales. Presentamos y comentamos el caso de una paciente con una afectacion de estas caracteristicas atribuible al etanol contenido como excipiente en varios preparados medicinales. EnglishEthanol can cause nistagmus and dizziness by a buoyancy mechanism. Its differential diagnosis includes atypical or central positional vertigo. We report the case of a woman whose positional symptoms were caused by ethanol contained in some mixtures.
SE ESTUDIO LA PRESENCIA DE ACTIVACION DE LOS GENES RAS EN 31 PACIENTES AFECTOS DE ADENOCARCINOMAS... more SE ESTUDIO LA PRESENCIA DE ACTIVACION DE LOS GENES RAS EN 31 PACIENTES AFECTOS DE ADENOCARCINOMAS NASOSINUSALES. SE UTILIZO LA REACCION EN CADENA DE LA POLIMERASA (PCR) PARA AMPLIFICAR LAS SECUENCIAS ESPECIFICAS DE LOS GENES RAS A PARTIR DE MUESTRAS DE TEJIDO CONGELADO O DE ESPECIMENES INCLUIDOS EN PARAFINA. LA DETECCION DE LAS MUTACIONES SE LLEVO A CABO POR MEDIO DE HIBRIDACION CON SONDAS OLIGONUCLEOTIDICAS ESPECIFICAS DE MUTACION. LOS CASOS POSITIVOS SE SOMETIERON A SECUENCIACION DIRECTA. SE ENCONTRARON MUTACIONES EN EL CODON 12 DE H-RAS EN 6 TUMORES (5 PRIMARIOS Y UNA RECIDIVA). TODAS LAS MUTACIONES HALLADAS CONSISTIAN EN UNA TRANSVERSION G POR T QUE DETERMINA LA SUSTITUCION DEL AMINOACIDO GLICINA POR UNA VALINA. LOS TUMORES PORTADORES DE DICHA MUTACION SE CARACTERIZABAN POR PRESENTAR UN MAYOR RIESGO DE DESARROLLAR RECIDIVAS (P=0,04) Y POR UNA SUPERVIVENCIA ACORTADA (P=0,01). NO SE ENCONTRO NINGUNA RELACION ENTRE LA PRESENCIA DE MUTACION Y LA EXPOSICION PREVIA DE LOS PACIENTES AL...
espanolLa prueba calorica es una de las pruebas funcionales vestibulares que mas han sido emplead... more espanolLa prueba calorica es una de las pruebas funcionales vestibulares que mas han sido empleadas en la clinica. Se realiza una revision con un enfoque practico de su metodologia y de la interpretacion de sus resultados. Metodo: revision narrativa. Resultados y Discusion: La prueba esta sujeta a ciertas limitaciones, como ser solo indicativa de la funcion del conducto semicircular horizontal y no tener valores absolutos de normalidad. Esto condiciona su realizacion y el analisis de sus resultados, que deben ser interpretados con cautela. Para interpretar correctamenteel test es necesario descartar y corregir artefactos y errores tecnicos. Conclusiones: El test calorico sigue siendo una prueba muy util, sobre todo por su capacidad para marcar el lado patologico. Pero debe ser puesta en el contexto clinico del paciente y combinarse con el resto de las exploraciones funcionales vestibulares para poder aproximar un diagnostico o plantear un tratamiento EnglishCaloric test has been the...
Benign Paroxysmal Positional Vertigo is the most frequent episodic vestibular disorder. The purpo... more 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.
OBJECTIVES Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural... more 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, the authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD. DESIGN Exome sequencing data from MD patients were analyzed to search for rare variants in hearing loss genes in a case-control study. A total of 109 patients with MD (73 familial cases and 36 early-onset sporadic patients) diagnosed according to the diagnostic criteria defined by the Barany Society were recruited in 11 hospitals. The allelic frequencies of rare variants in hearing loss genes were calculated in individuals with familial MD. A single rare variant analysis and a gene burden analysis (GBA) were conducted in the dataset selecting 1 patient from each family. Allelic frequencies from European and Spanish reference datasets were used as controls. RESULTS A total of 5136 single-nucleotide variants in hearing loss genes were considered for single rare variant analysis in familial MD cases, but only 1 heterozygous likely pathogenic variant in the OTOG gene (rs552304627) was found in 2 unrelated families. The gene burden analysis found an enrichment of rare missense variants in the OTOG gene in familial MD. So, 15 of 46 families (33%) showed at least 1 rare missense variant in the OTOG gene, suggesting a key role in familial MD. CONCLUSIONS The authors found an enrichment of multiplex rare missense variants in the OTOG gene in familial MD. This finding supports OTOG as a relevant gene in familial MD and set the groundwork for genetic testing in MD.
Introduccion El vertigo posicional paroxistico benigno (VPPB) es el trastorno vestibular mas frec... more Introduccion El vertigo posicional paroxistico benigno (VPPB) es el trastorno vestibular mas frecuente, pero no parece que se lo identifique bien fuera del ambito especializado especifico. Objetivo Determinar el conocimiento del VPPB fuera de la consulta otoneurologica. Pacientes y metodo Estudio retrospectivo de una serie de 69 pacientes con VPPB tratados en la consulta especializada entre junio de 2005 y diciembre de 2006, analizando las rutas de derivacion, sus pormenores y los tiempos transcurridos desde el inicio de los sintomas. Resultados 42 (61 %) pacientes llegaron por la via convencional (atencion primaria-otorrinolaringologo extrahospitalario), 17 (25 %) procedian de urgencias (un tercio fueron ingresados); el resto procedia de consultas de pasillo o durante ingresos por otras causas (el 9 y el 5 %, respectivamente). Solo 1 paciente fue remitido con el diagnostico especifico de VPPB. El tiempo medio de evolucion de los sintomas fue de 20 ± 32 semanas, significativamente mayor (p Conclusiones El VPPB sigue siendo una enfermedad poco conocida en la atencion no especializada, por lo que se retrasan el diagnostico y el tratamiento y se consumen recursos innecesarios para su resolucion.
Objectives: Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineura... more 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 authors recruited 46 families with MD to search for relevant candidate genes for hearing loss in familial MD. Design: Exome sequencing data from MD patients were analyzed to search for rare variants in hearing loss genes in a case-control study. A total of 109 patients with MD (73 familial cases and 36 early-onset sporadic patients) diagnosed according to the diagnostic criteria defined by the Barany Society were recruited in 11 hospitals. The allelic frequencies of rare variants in hearing loss genes were calculated in individuals with familial MD. A single rare variant analysis (SRVA) and a gene burden analysis (GBA) were conducted i...
Meniere’s disease is an episodic vestibular syndrome associated with sensorineural hearing loss (... more 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-kB pathway, such as REL, TNFAIP3, NFKB1 and TNIP1, have been associated with two or more
Benign Paroxysmal Positional Vertigo is the most frequent episodic vestibular disorder. The purpo... more 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.
ABSTRACT IntroductionIn 2008, the Otoneurology committee of the SEORL-PCF published a classificat... more ABSTRACT IntroductionIn 2008, the Otoneurology committee of the SEORL-PCF published a classification of peripheral vertigo, based on clinical criteria. The objective of this study was to validate this classification through analysing the diagnostic agreement among several medical assessors.
Benign paroxysmal positional vertigo (BPPV) is the most frequent episodic vestibular disorder. It... more Benign paroxysmal positional vertigo (BPPV) is the most frequent episodic vestibular disorder. It is due to otolith rests that are free into the canals or attached to the cupulas. Well over 90% of patients can be successfully treated with manoeuvres that move the particles back to the utriculus. Among the great variety of procedures that have been described, the manoeuvres that are supported by evidenced-based studies or extensive series are commented in this review. Some topics regarding BPPV treatment, such as controlling the accuracy of the procedures or the utility of post-manoeuvre restrictions are also discussed.
espanolEl etanol puede producir nistagmo y vertigo por un mecanismo de flotacion cupular, plantea... more espanolEl etanol puede producir nistagmo y vertigo por un mecanismo de flotacion cupular, planteando el diagnostico diferencial con vertigos posicionales atipicos o centrales. Presentamos y comentamos el caso de una paciente con una afectacion de estas caracteristicas atribuible al etanol contenido como excipiente en varios preparados medicinales. EnglishEthanol can cause nistagmus and dizziness by a buoyancy mechanism. Its differential diagnosis includes atypical or central positional vertigo. We report the case of a woman whose positional symptoms were caused by ethanol contained in some mixtures.
SE ESTUDIO LA PRESENCIA DE ACTIVACION DE LOS GENES RAS EN 31 PACIENTES AFECTOS DE ADENOCARCINOMAS... more SE ESTUDIO LA PRESENCIA DE ACTIVACION DE LOS GENES RAS EN 31 PACIENTES AFECTOS DE ADENOCARCINOMAS NASOSINUSALES. SE UTILIZO LA REACCION EN CADENA DE LA POLIMERASA (PCR) PARA AMPLIFICAR LAS SECUENCIAS ESPECIFICAS DE LOS GENES RAS A PARTIR DE MUESTRAS DE TEJIDO CONGELADO O DE ESPECIMENES INCLUIDOS EN PARAFINA. LA DETECCION DE LAS MUTACIONES SE LLEVO A CABO POR MEDIO DE HIBRIDACION CON SONDAS OLIGONUCLEOTIDICAS ESPECIFICAS DE MUTACION. LOS CASOS POSITIVOS SE SOMETIERON A SECUENCIACION DIRECTA. SE ENCONTRARON MUTACIONES EN EL CODON 12 DE H-RAS EN 6 TUMORES (5 PRIMARIOS Y UNA RECIDIVA). TODAS LAS MUTACIONES HALLADAS CONSISTIAN EN UNA TRANSVERSION G POR T QUE DETERMINA LA SUSTITUCION DEL AMINOACIDO GLICINA POR UNA VALINA. LOS TUMORES PORTADORES DE DICHA MUTACION SE CARACTERIZABAN POR PRESENTAR UN MAYOR RIESGO DE DESARROLLAR RECIDIVAS (P=0,04) Y POR UNA SUPERVIVENCIA ACORTADA (P=0,01). NO SE ENCONTRO NINGUNA RELACION ENTRE LA PRESENCIA DE MUTACION Y LA EXPOSICION PREVIA DE LOS PACIENTES AL...
espanolLa prueba calorica es una de las pruebas funcionales vestibulares que mas han sido emplead... more espanolLa prueba calorica es una de las pruebas funcionales vestibulares que mas han sido empleadas en la clinica. Se realiza una revision con un enfoque practico de su metodologia y de la interpretacion de sus resultados. Metodo: revision narrativa. Resultados y Discusion: La prueba esta sujeta a ciertas limitaciones, como ser solo indicativa de la funcion del conducto semicircular horizontal y no tener valores absolutos de normalidad. Esto condiciona su realizacion y el analisis de sus resultados, que deben ser interpretados con cautela. Para interpretar correctamenteel test es necesario descartar y corregir artefactos y errores tecnicos. Conclusiones: El test calorico sigue siendo una prueba muy util, sobre todo por su capacidad para marcar el lado patologico. Pero debe ser puesta en el contexto clinico del paciente y combinarse con el resto de las exploraciones funcionales vestibulares para poder aproximar un diagnostico o plantear un tratamiento EnglishCaloric test has been the...
Benign Paroxysmal Positional Vertigo is the most frequent episodic vestibular disorder. The purpo... more 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.
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