Aumento de microorganismos no habituales en la neumonía adquirida en la comunidad / Increasing incidence of community-acquired pneumonia caused by atypical microorganisms

Introducción. Conocer los microorganismos más frecuentes en nuestro medio nos puede ayudar a tomar decisiones terapéuticas empíricas. El objetivo del estudio fue evaluar la etiología microbiológica de las neumonías adquiridas en la comunidad. Pacientes y métodos. Estudio observacional descriptivo prospectivo. Se incluyeron sujetos≥14 años con diagnóstico clínico-radiográfico de neumonía adquirida en la comunidad durante 383 días consecutivos. Se recogieron variables sociodemográficas, antecedentes personales, escalas pronósticas de gravedad, evolución y agentes patógenos. Para obtener un diagnóstico etiológico se realizaron hemocultivos, detección de antígenos urinarios de Streptococcus pneumoniae y Legionella pneumophila, cultivo de esputo, virus influenza y detección de Streptococcus pyogenes. Se describieron las variables categóricas como valor absoluto y porcentaje y las variables continuas por sus medias y desviaciones estándar. Resultados. Fueron incluidos en el estudio 287 pacientes (42% mujeres; edad media 66±22 años). Falleció el 10,45%, ingresando el 70%. Se consiguió un diagnóstico etiológico en 43 pacientes (14,98%), determinándose 16 microorganismos en 59 muestras positivas. El patógeno más frecuentemente aislado fue Streptococcus pneumoniae (24/59, 41%), seguido de bacilos entéricos gramnegativos, Klebsiella pneumoniae, Escherichia coli, Serratia marcescens y Enterobacter cloacae, aislados en un 20% de las muestras (12/59), virus influenza (5/59, 9%), Staphylococcus aureus, todos resistentes a meticilina (3/59, 5%), Pseudomonas aeruginosa (2/59, 3%), Moraxella catarrhalis (2/59, 3%), Legionella pneumophila (2/59, 3%) y Haemophilus influenzae (2/59, 3%). Las infecciones polimicrobianas supusieron el 14% (8/59). Conclusión. Encontramos un alto porcentaje de microorganismos no habituales en neumonías adquiridas en la comunidad (AU)

Introduction. Knowing the most common microorganisms in our environment can help us to make proper empirical treatment decisions. The aim is to identify those microorganisms causing community-acquired pneumonia. Patients and methods. An observational, descriptive and prospective study was conducted, including patients over 14 years with a clinical and radiographic diagnosis of community-acquired pneumonia during a 383 consecutive day period. A record was made of sociodemographic variables, personal history, prognostic severity scales, progress, and pathogenic agents. The aetiological diagnosis was made using blood cultures, detection of Streptococcus pneumoniae and Legionella pneumophila urinary antigens, sputum culture, influenza virus and Streptococcus pyogenes detection. Categorical variables are presented as absolute values and percentages, and continuous variables as their means and standard deviations. Results. Of the 287 patients included in the study (42% women, mean age 66±22 years), 10.45% died and 70% required hospital admission. An aetiological diagnosis was achieved in 43 patients (14.98%), with 16 microorganisms found in 59 positive samples. The most frequently isolated pathogen was Streptococcus pneumonia (24/59, 41%), followed by gram-negative enteric bacilli, Klebsiella pneumonia, Escherichia coli, Serratia marcescens and Enterobacter cloacae isolated in 20% of the samples (12/59), influenza virus (5/59, 9%), methicillin-resistant Staphylococcus aureus (3/59, 5%), Pseudomonas aeruginosa (2/59, 3%), Moraxella catarrhalis (2/59, 3%), Legionella pneumophila (2/59, 3%), and Haemophilus influenza (2/59, 3%). Polymicrobial infections accounted for 14% (8/59). Conclusion. A high percentage of atypical microorganisms causing community-acquired pneumonia were found (AU)

[Increasing incidence of community-acquired pneumonia caused by atypical microorganisms]. / Aumento de microorganismos no habituales en la neumonía adquirida en la comunidad.

INTRODUCTION: Knowing the most common microorganisms in our environment can help us to make proper empirical treatment decisions. The aim is to identify those microorganisms causing community-acquired pneumonia. PATIENTS AND METHODS: An observational, descriptive and prospective study was conducted, including patients over 14 years with a clinical and radiographic diagnosis of community-acquired pneumonia during a 383 consecutive day period. A record was made of sociodemographic variables, personal history, prognostic severity scales, progress, and pathogenic agents. The aetiological diagnosis was made using blood cultures, detection of Streptococcus pneumoniae and Legionella pneumophila urinary antigens, sputum culture, influenza virus and Streptococcus pyogenes detection. Categorical variables are presented as absolute values and percentages, and continuous variables as their means and standard deviations. RESULTS: Of the 287 patients included in the study (42% women, mean age 66±22 years), 10.45% died and 70% required hospital admission. An aetiological diagnosis was achieved in 43 patients (14.98%), with 16 microorganisms found in 59 positive samples. The most frequently isolated pathogen was Streptococcus pneumonia (24/59, 41%), followed by gram-negative enteric bacilli, Klebsiella pneumonia, Escherichia coli, Serratia marcescens and Enterobacter cloacae isolated in 20% of the samples (12/59), influenza virus (5/59, 9%), methicillin-resistant Staphylococcus aureus (3/59, 5%), Pseudomonas aeruginosa (2/59, 3%), Moraxella catarrhalis (2/59, 3%), Legionella pneumophila (2/59, 3%), and Haemophilus influenza (2/59, 3%). Polymicrobial infections accounted for 14% (8/59). CONCLUSION: A high percentage of atypical microorganisms causing community-acquired pneumonia were found.

Concentración del fragmento aminoterminal del NT-proBNPen plasma: ¿un nuevo marcador biológico predictivo en las neumonías adquiridas en la comunidad? / N-terminal fragment of pro-brain natriuretic peptide plasma concentration: a new predictive biomarker for community acquired pneumonia?

Objetivo: Evaluar la relación entre la concentración plasmática del fragmento aminoterminal del pro-péptido natriurético cerebral (NT-ProBNP) en el momento del diagnóstico de neumonía adquiridad en la comunidad (NAC) en urgencias y su gravedad determinada como mortalidad a los 30 días. Método: Estudio observacional prospectivo tipo cohortes en el que se determina NTProBNP (medido en ng/l) como factor exposición, se realiza seguimiento durante 30 días y se analiza la frecuencia de mortalidad. Incluimos a los pacientes con diagnóstico clínico-radiográfico de NAC atendidos consecutivamente en el servicio de urgencias desde el 1 de febrero al 30 de abril de 2012. Resultados: Se valoraron 110 pacientes, y 96 fueron incluidos en el estudio (87%), 44% mujeres. La edad media fue 66 (DE 22) años. Los valores medios en sangre de NT-Pro BNP extraídos fueron de 3.747 ng/l (DE 10.732) y mediana 506 ng/l (RIC2.490). Fallecieron 13 pacientes en los primeros 30 días (14%). Los valores de NTproBNP medios en los pacientes fallecidos fueron 17.805 ng/l (DE 24.952) comparados con 1.545 ng/l (DE 2.467) en los pacientes supervivientes (p = 0,003). Conclusiones: Los valores de NT-ProBNP en el momento del diagnóstico de NAC en elSU son un buen predictor de mortalidad precoz a los 30 días (AU)

Objective: To assess the association between plasma concentration of the N-terminal fragment of the precursor to brain type natriuretic peptide (NT-proBNP) and severity of community-acquired pneumonia (CAP) (30-day mortality) at the moment of emergency department diagnosis. Methods: Prospective observational cohort study of NT-proBNP plasma concentration as the potential indicator of risk of 30-day mortality. Emergency department patients with a clinical-radiographic diagnosis of CAP were enrolled consecutively from February 1 to April 30, 2012. Results: A total of 110 patients were recruited; 96 (87%) were included. Women comprised 44% of the cohort. The mean (SD) age was 66 (22) years. The mean NT-proBNP concentration was 3747 (10 732) ng/L; the median concentration was 506 ng/L (interquartile range, 2490 ng/L). Thirteen patients (14%) died within 30 days. The mean NT-proBNP concentration was 17 804.85 (24 952) ng/L in patients who died and 1545 (2467) ng/L in survivors (P=.003). Conclusions: NT-proBNP concentration at the time of CAP diagnosis in the emergency department provides a good predictor of early (30-day) mortality (AU)

[Open rhinolalia, a typical symptom of velo-cardio-facial syndrome]. / Rinolalia abierta, un síntoma característico del síndrome velocardiofacial.

The Velocardiofacial (VCF) syndrome is a relatively frequent cromosomopathy that usually associates various otorhinolaryngological features, as hipenasal speech, typical facies and auricular anomalies. We report a patient with VCF syndrome that before being diagnosed had undergone adenoidectomy with a postoperative worsening in speech. Otorhinolaryngological clinical features of the VCF syndrome are discussed and a diagnostic protocol is proposed to achieve an early diagnosis and to prevent iatrogenic interventions in these patients.

Rinolalia abierta, un síntoma característico del síndrome velocardiofacial / Open rinolalia a typical symptom of velo-cardio-facial syndrome

El síndrome velocardiofacial (VCF) es una cromosomopatía relativamente frecuente que habitualmente asocia varias manifestaciones otorrinolaringológicas, como rinolalia abierta severa, secundaria a un paladar hendido submucoso, rasgos faciales característicos y anomalías auriculares. Se presenta el caso clínico de una paciente con síndrome VCF que antes de ser diagnosticada había sido sometida a una adenoidectomía y presentando en el postoperatorio un empeoramiento severo del lenguaje. Se resumen los datos de sospecha del síndrome VCF y se propone un protocolo de estudio para conseguir un diagnóstico precoz en estos pacientes y evitar intervenciones iatrogénicas

The Velocardiofacial (VCF) syndrome is a relatively frequent cromosomopathy that usually associates various otorhinolaryngological features, as hipernasal speech, typical facies and auricular anomalies. We report a patient with VCF syndrome that before being diagnosed had undergone adenoidectomy with a postoperative worsening in speech. Otorhinolaryngological clinical features of the VCF syndrome are discussed and a diagnostic protocol is proposed to achieve an early diagnosis and to prevent iatrogenic interventions in these patients

[Sensorineural hearing loss in cerebral palsy patients]. / Hipoacusia neurosensorial en pacientes con parálisis cerebral.

INTRODUCTION: Cerebral palsy (CP) is the most common chronic motor disorder in children and frequently associates sensorial pathology. The objective of our study was to establish the prevalence and characteristics of sensorineural hearing loss in children with CP. METHODS: We performed a retrospective study of patients born between the years 1975 and 2004, diagnosed of CP in the "Marqués de Valdecilla" University Hospital. Clinical data were collected including the presence of sensorineural hearing loss, age at diagnosis, treatment and associated pathology. RESULTS: Sixty four patients had confirmed CP. Audiological testing had been performed in thirty patients (47%) of them 18 (60%) had sensorineural hearing loss (12 bilateral and 6 unilateral). In thirteen cases hearing loss was associated with mental retardation. The age at diagnosis ranged from 3 months to 7 years (mean 23.2 months). Eight patients were treated with hearing aids and one with a cochlear implant. CONCLUSIONS: Sensorineural hearing loss is frequent in CP patients. Management of this problem is difficult in this setting because of the motor disorder and the associated pathology. Early audiological assessment is very important to improve the language outcome in these children.

[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment]. / Neuropatia auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF) en un lactante sometido a screening neonatal de hipoacusia.

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs.

Hipoacusia neurosensorial en pacientes con parálisis cerebral / Sensorineural hearing loss in cerebral palsy patients

Introducción: La parálisis cerebral (PC) es el trastorno motor crónico más frecuente en la infancia. Es habitual la presencia de trastornos sensoriales asociados a la misma. El objetivo de nuestro estudio fue conocer la frecuencia y características de aparición de hipoacusia neurosensorial en pacientes con PC. Métodos: Se realizó un estudio retrospectivo de los pacientes diagnosticados de PC en el Hospital Universitario Marqués de Valdecilla nacidos entre los años 1975 y 2004. Se evaluó la presencia/ausencia de hipoacusia neurosensorial, edad en el momento del diagnóstico, tratamiento realizado y la existencia de patología severa asociada. Resultados: Sesenta y cuatro pacientes (37 varones y 27 mujeres) fueron diagnosticados de parálisis cerebral durante dicho periodo. Treinta (47%) tenían realizado un estudio auditivo, de los cuales 18 (60%) presentaban hipoacusia neurosensorial (12 bilateral y 6 unilateral), trece de ellos con retraso mental asociado. La edad de diagnóstico osciló entre los 3 meses y los 7 años (media 23,2 meses). Ocho pacientes fueron tratados con audioprótesis y a uno le fue realizado un implante coclear. Conclusiones: La PC se asocia con frecuencia a hipoacusia neurosensorial. Su diagnóstico y tratamiento es complejo en este grupo de pacientes debido al trastorno motor que presentan y a la frecuente asociación con patología severa

INTRODUCTION: Cerebral palsy (CP) is the most common chronic motor disorder in children and frequently associates sensorial pathology. The objective of our study was to establish the prevalence and characteristics of sensorineural hearing loss in children with CP. METHODS: We performed a retrospective study of patients born between the years 1975 and 2004, diagnosed of CP in the "Marques de Valdecilla" University Hospital. Clinical data were collected including the presence of sensorineural hearing loss, age at diagnosis, treatment and associated pathology. RESULTS: Sixty four patients had confirmed CP. Audiological testing had been performed in thirty patients (47%) of them 18 (60%) had sensorineural hearing loss (12 bilateral and 6 unilateral). In thirteen cases hearing loss was associated with mental retardation. The age at diagnosis ranged from 3 months to 7 years (mean 23.2 months). Eight patients were treated with hearing aids and one with a cochlear implant. CONCLUSIONS: Sensorineural hearing loss is frequent in CP patients. Management of this problem is difficult in this setting because of the motor disorder and the associated pathology. Early audiological assessment is very important to improve the language outcome in these children

Neuropatía auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF) en el lactante sometido a screening neonatal de hipoacusia / Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment

Presentamos el caso de un niño con neuropatía auditiva secundaria a la mutación Q829X en el gen de la otoferlina (OTOF). Dentro de un programa universal de detección precoz de hipoacusia en neonatos, el paciente pasó la prueba realizada mediante otoemisiones acústicas (OEAs). Al existir antecedentes familiares de sordera, se realizaron potenciales evocados auditivos del tronco cerebral (PEATC), mediante los cuales se le diagnosticó una pérdida auditiva profunda. El estudio genético confirmó que el paciente era homocigoto para la mutación Q829X en OTOF. El paciente ha seguido tratamiento con implante coclear obteniéndose resultados satisfactorios. La relativa frecuencia de esta mutación en la población española hace que un número no despreciable de casos puedan escapar a la fase de screening mediante OEAs de los programas de detección precoz de sorderas

We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a universal newborn hearing screening program, the subject passed the otoacoustic emission (OAEs) test. Given that the infant had a familial history of deafness auditory brainstem response (ABR) testing was performed, revealing a profound hearing impairment. The genetic study confirmed that the subject was homozygous for the Q829X mutation in OTOF. The patient underwent a cochlear implant, obtaining satisfactory results. The moderately high prevalence of this mutation in the Spanish population could produce a significant false negative rate in newborn hearing screening programs using OAEs

[Otorhinolaryngo logical manifestations in patients with Down syndrome]. / Manifestaciones otorrinolaringológicas en el síndrome de Down.

OBJECTIVE: The objective [corrected] of our study was to assess the most frequent otorhinolaryngological manifestations in patients with Down syndrome, and to propose diagnostic and management guidelines to improve their quality of life. METHODS: Patients with Down's syndrome referred to the ENT Department of two Spanish Hospitals during a 4-year period were retrospectively reviewed. Data of the following variables were collected: main symptoms, diagnosis, comorbidities, surgical procedures, and complications. RESULTS: Thirty patients with Down's syndrome were included in our study. The most frequent reasons for referral were hearing loss and newborns from the Hearing Impairment Screening Program. Otitis media with effusion, adenoid hypertrophy and obstructive sleep apnea were the most common diagnosis. Five patients underwent head and neck surgical procedures without complications. CONCLUSIONS: Hearing loss secondary to chronic otitis media with effusion and upper airway obstruction are frequent pathologies in patients with Down syndrome.

Manifestaciones otorrinolaringológicas en el síndrome de Down / Otorhinolaryngological manifestations in patients with Down syndrome

Introducción: El objetivo de nuestro estudio fue conocer las manifestaciones otorrinolaringológicas más frecuentes en pacientes con síndrome de Down y proponer un protocolo de manejo de las mismas para que tengan el menor impacto en su calidad de vida. Métodos: Se realizó un estudio retrospectivo de los pacientes con síndrome de Down vistos en los Servicios de ORL de dos centros hospitalarios durante 4 años. Las siguientes variables fueron recogidas de la historia clínica: motivo de consulta, diagnóstico, comorbilidad, intervenciones quirúrgicas realizadas y sus complicaciones. Resultados: Treinta pacientes con síndrome de Down fueron incluidos en nuestro estudio. La mayor parte consultó por problemas auditivos o procedente del Programa de Detección de Hipoacusia Neonatal de Cantabria. El diagnóstico más frecuente fueron la otitis serosa, la hipertrofia adenoidea y el síndrome de apnea obstructiva del sueño. Cinco pacientes fueron sometidos a procedimientos quirúrgicos de cabeza y cuello sin presentar complicaciones. Conclusiones: Los pacientes con síndrome de Down presentan con frecuencia manifestaciones otorrinolaringológicas, sobre todo hipoacusia secundaria a patología de oído medio y obstrucción de vías aéreas superiores

Objective: The objetive of our study was to assess the most frequent otorhinolaryngological manifestations in patients with Down syndrome, and to propose diagnostic and management guidelines to improve their quality of life. Methods: Patients with Down’s syndrome referred to the ENT Department of two spanish Hospitals during a 4-year period were retrospectively reviewed. Data of the following variables were collected: main symptoms, diagnosis, comorbidities, surgical procedures, and complications. Results: Thirty patients with Down’s syndrome were included in our study. The most frequent reasons for referral were hearing loss and newborns from the Hearing Impairment Screening Program. Otitis media with effusion, adenoid hypertrophy and obstructive sleep apnea were the most common diagnosis. Five patients underwent head and neck surgical procedures without complications. Conclusions: Hearing loss secondary to chronic otitis media with effusion and upper airway obstruction are frequent pathologies in patients with Down syndrome

Prevalencia de las mutaciones 35delG en el gen GJB2, del (GJB6-D13S1830) en el gen GJB6, Q829X en el gen OTOF y A1555G en el gen del ARNr 12S mitocondrial en sujetos con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia / Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset

Introducción: Las mutaciones responsables de hipoacusia no sindrómica que se han encontrado con mayor frecuencia en la población española son la mutación 35delG en el gen de la conexina 26 (GJB2), la deleción del(GJB6- D13S1830) en el gen de la conexina 30 (GJB6), la mutación Q829X en el gen de la otoferlina (OTOF) y la mutación A1555G en el gen del ARN ribosómico (ARNr) 12S del genoma mitocondrial. Pacientes y métodos: Se determinó la presencia de estas mutaciones en 38 pacientes de Cantabria con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia. Resultados: Se detectó la mutación A1555G en homoplasmia en 9 pacientes (23,7%). Presentaban la mutación 35delG en heterozigosis 3 individuos (7,9%). Se encontró la deleción del(GJB6-D13S1830) en heterozigosis en un caso (2,6%). Era portador en homozigosis de la mutación Q829X un paciente (2,6%). Conclusiones: Estas cuatro mutaciones están presentes en el 36,8% de los casos de hipoacusia no sindrómica de nuestra muestra

Introduction: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome. Patients and methods: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset. Results: The A1555G mutation was detected in homoplasmy in 9 patients (23,7%). Three individuals were heterozygous for the 35delG mutation (7,9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2,6%). One subject was homozygous for the Q829X mutation (2,6%). Conclusions: These four mutations are present in 36,8% of all cases of non-syndromic hearing impairment in our population

Crisis otolíticas de Tumarkin o drop attacks en pacientes con enfermedad de Meniere / Vestibular drop attacks or Tumarkin’s otolithic crisis in patients with Meniere’s disease

Introducción: Los pacientes con enfermedad deMeniere pueden presentar a lo largo de su evolución crisisotolíticas de Tumarkin o drop attacks (DA) que consisten encaídas bruscas al suelo sin pródromos previo ni pérdida deconciencia, de segundos de duración. El objetivo de nuestroestudio fue determinar la frecuencia y características delos DA en el contexto de la enfermedad de Meniere. Métodos:Se incluyó en nuestro estudio una cohorte de 40 pacientescon enfermedad de Meniere definitivo, seguidos entre6 meses y 12 años. Todos ellos fueron entrevistadospara valorar la aparición de crisis otolíticas de Tumarkin alo largo de la evolución de su enfermedad y recoger las característicasde las mismas. Resultados: 13 pacientes (32,5%),presentaron crisis otolíticas de Tumarkin. El número deepisodios osciló entre 1 (en 6 pacientes) y 14. En ningúnpaciente constituyeron el síntoma de inicio de la enfermedad,apareciendo entre 3 meses y 18 años después deldiagnóstico de la misma. Ningún paciente precisó tratamientopara los DA. Conclusiones: Las crisis otolíticas deTumarkin son frecuentes en pacientes con enfermedad deMeniere. Pueden aparecer en cualquier momento del desarrollode la misma. Normalmente se presentan en brotesde varios meses de duración y generalmente no precisantratamiento

Introduction: Drop attacks (DA) are a sudden fall that comes without warning and without loss of consciousness, with no associated neurological symptoms and normal neurological examination. A certain number of patients with Meniere´s disease, develop Tumarkin´s otolithic crisis or DA. The purpose of this study is to document the frequency and clinical features of DA in patients with Meniere ´s disease. Methods: A cohort of 40 patients with "definitive" Meniere´s Disease were followed up between six months and 12 years. The presence and characteristics of Tumarkin´s otolithic crisis were recorded. Results: Thirteen (32.5%) patients developed DA during the outcome of their Meniere´s disease. The interval between the onset of typical symptoms of Meniere´s disease and the DA ranged from less than one year to 18 years. The number of DA varied from 1 to 14. The attacks typically occurred in a flurry during a period of 1 year or less. Six patients had only one DA. No patient requiered treatment for the DA. Conclusions: Tumarkin´s otolithic crisis in Meniere´s disease are not uncommon. They can occur at any time during the course of the disease, generally in a flurry of less than one year. Most patients have a spontaneus remission of the DA

[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset]. / Prevalencia de las mutaciones 35delG en el gen GJB2, del (GJB6-D13S1830) en el gen GJB6, Q829X en el gen OTOF y A1555G en el gen del ARNr 12S mitocondrial en sujetos con hipoacusia neurosensorial no sindrómica de inicio congénito o en la infancia.

INTRODUCTION: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome. PATIENTS AND METHODS: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset. RESULTS: The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%). CONCLUSIONS: These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.

[Vestibular drop attacks or Tumarkin's otolithic crisis in patients with Meniere's disease]. / Crisis otolíticas de Tumarkin o drop attacks en pacientes con enfermedad de Meniere.

INTRODUCTION: Drop attacks (DA) are a sudden fall that comes without warning and without loss of consciousness, with no associated neurological symptoms and normal neurological examination. A certain number of patients with Meniere's disease, develop Tumarkin's otolithic crisis or DA. The purpose of this study is to document the frequency and clinical features of DA in patients with Meniere's disease. METHODS: A cohort of 40 patients with "definitive" Meniere's Disease were followed up between six months and 12 years. The presence and characteristics of Tumarkin's otolithic crisis were recorded. RESULTS: Thirteen (32.5%) patients developed DA during the outcome of their Meniere's disease. The interval between the onset of typical symptoms of Meniere's disease and the DA ranged from less than one year to 18 years. The number of DA varied from 1 to 14. The attacks typically occurred in a flurry during a period of 1 year or less. Six patients had only one DA. No patient requiered treatment for the DA. CONCLUSIONS: Tumarkin's otolithic crisis in Meniere's disease are not uncommon. They can occur at any time during the course of the disease, generally in a flurry of less than one year. Most patients have a spontaneus remission of the DA.

[Etiology of severe/profound, pre/perilingual bilateral hearing loss in Cantabria (Spain)]. / Etiología de la hipoacusia severa/profunda bilateral pre/perilocutiva en Cantabria.

OBJECTIVE: To know the etiology of preiperlingual bilateral hearing loss in children. MATERIALS AND METHODS: All the patients diagnosed with bilateral severe/profound, pre or perilingual hearing loss at Sierrallana and Marqués de Valdecilla Hospitals (Cantabria, Spain) during the last 20 years were included in this study. RESULTS: A hundred patients were diagnosed with bilateral severe/profound pre/perilingual hearing loss. The most frequent etiology was hereditary (49%), followed by severe perinatal hypoxia (11%), ototoxicity (5%), meningitis (3%), hyperbilirubinemia (3%) and rubella (2%). In 21% of cases was not known. CONCLUSIONS: The two most frequent etiologies found in severe/profound hearing loss in children in our area were hereditary and non infectious perinatal problems. Infectious disease were scarce. Will decrease when genetic test were used as clinical basis.

[Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity]. / Prevalencia de la mutación A1555G en el ADN mitocondrial en pacientes con patología auditiva o vestibular debida a la ototoxicidad de los aminoglucósidos.

OBJECTIVE: To determine the frequency of the A1555G mutation in the mitochondrial genome among Spanish patients with aminoglycoside-induced ototoxicity. PATIENTS AND METHODS: We screened 25 unrelated cases, totalling 39 individuals with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity. This group was made up of 18 subjects from 4 unrelated families with a history of aminoglycoside ototoxicity in more than one relative, 8 subjects from 8 families that also had other relatives with hearing loss in absence of aminoglycoside exposure, and 13 sporadic cases. Among the 13 sporadic cases, there were 3 patients with vestibular involvement. Detection of the A1555G mutation was seen by mean of techniques for molecular diagnosis. RESULTS: The A1555G mutation was identified in all of the individuals from 4 families with aminoglycoside-induced cochlear damage and in 6 of 8 individuals with familial hearing loss. None of the sporadic cases carried the mutation. CONCLUSIONS: A high proportion of patients with cochlear damage due to aminoglycoside ototoxicity and having a familial history of hearing loss, related or not to aminoglycoside exposure, harbor the A1555G mutation.

Etiología de la hipoacusia severa/profunda bilateral pre/perilocutiva en Cantabria / Etiology of severe/profound, pre/perilingual bilateral hearing loss in Cantabria (Spain)

Objetivo: Conocer las causas implicadas en el desarrollo de hipoacusia bilateral severa/profunda de inicio en la infancia. Métodos: Se realizó un estudio retrospectivo de todos los pacientes diagnosticados de hipoacusia bilateral severa/profunda pre/perilocutiva en los Servicios de ORL del Hospital Sierrallana (Torrelavega) y Marqués de Valdecilla (Santander) en la Comunidad de Cantabria durante los últimos 20 años. Resultados: Cien pacientes fueron diagnosticados de hipoacusia severa/profunda bilateral pre/perilocutiva durante dicho periodo. La etiología más frecuentemente encontrada fue hereditaria (49%),seguida de la hipoxia severa perinatal (11%), ototoxicidad (5%),meningitis (3%), hiperbilirrubinemia (3%) y rubéola (2%). En un21% de los casos no se llegó a determinar la etiología de la misma. Conclusiones: Actualmente las causas más frecuente de hipoacusia severa/profunda en la infancia en nuestro medio son la hereditaria y los trastornos perinatales. Es infrecuente la secundaria a problemas infecciosos. Es probable que con la generalización en la realización de estudios genéticos el número de casos de etiología desconocida disminuya de forma importante en el futuro (AU)

OBJECTIVE: To know the etiology of preiperlingual bilateral hearing loss in children. MATERIALS AND METHODS: All the patients diagnosed with bilateral severe/profound, pre or perilingual hearing loss at Sierrallana and Marqués de Valdecilla Hospitals (Cantabria, Spain) during the last 20 years were included in this study. RESULTS: A hundred patients were diagnosed with bilateral severe/profound pre/perilingual hearing loss. The most frequent etiology was hereditary (49%), followed by severe perinatal hypoxia (11%), ototoxicity (5%), meningitis (3%), hyperbilirubinemia (3%) and rubella (2%). In 21% of cases was not known. CONCLUSIONS: The two most frequent etiologies found in severe/profound hearing loss in children in our area were hereditary and non infectious perinatal problems. Infectious disease were scarce. Will decrease when genetic test were used as clinical basis (AU)

[Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene]. / Estudio de una familia con hipoacusia neurosensorial secundaria a la mutación Q829X en el gen OTOF.

OBJECTIVE: To determine the features of hearing loss due to the Q829X mutation in the OTOF gene, the third most frequent mutation causing prelingual deafness reported so far in the Spanish population. MATERIALS AND METHODS: We carried out genetic characterisation of 16 individuals from a consanguineous family from Cantabria, in which 4 members were affected by deafness. RESULTS: All 4 hearing impaired individuals were homozygous for the Q829X mutation in the OTOF gene. The auditory defect was a profound, bilateral, symmetrical, sensorineural hearing loss of prelingual onset. No other clinical alterations were observed. Individuals heterozygous for the Q829X mutation were unaffected. CONCLUSIONS: The Q829X mutation in the OTOF gene causes severe to profound sensorineural hearing loss of prelingual onset. Early detection of individuals carrying this mutation is important for the application of palliative treatment and special education.

Prevalencia de la mutación A1555G En El ADN mitocondrial en pacientes con patología auditiva o vestibular debida a la ototoxicidad de los aminoglucosidos / Prevalence of the A1555g mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity

Objetivos: determinar ta frecuencia de la mutación A1555G del genoma mitocondrial en pacientes españoles con ototoxicidad por aminoglucósidos. Pacientes y métodos: se estudiaron 25 casos independientes, con un total de 39 individuos con patología auditiva o vestibular causada por la ototoxicidad de los aminoglucósidos. De ellos, 18 pertenecían a 4 familias no relacionadas con historia de ototoxicidad por aminoglucósidos en más de un miembro de la familia, 8 sujetos pertenecían a 8 familias en las que había otros miembros con hipoacusia sin exposición a aminoglucósidos, y 13 eran casos esporádicos. Entre los 13 casos esporádicos, había 3 pacientes con afectación vestibular, sin hipoacusia. Los 36 individuos restantes presentaban daño coclear. Se realizó la detección de la mutación A1555G mediante técnicas de diagnóstico molecular. Resultados: se identificó la mutación A1555G en todos los individuos de las 4 familias con daño auditivo por aminoglucósidos y en 6 de los 8 individuos con historia familiar de hipoacusia. Ninguno de los casos esporádicos portaba la mutación. Conclusiones: una alta proporción de los pacientes con daño auditivo debido a la ototoxicidad de los aminoglucósidos y que tienen antecedentes familiares de hipoacusia (relacionada o no con ototoxicidad) portan la mutación A1555G (AU)

OBJECTIVE: To determine the frequency of the A1555G mutation in the mitochondrial genome among Spanish patients with aminoglycoside-induced ototoxicity. PATIENTS AND METHODS: We screened 25 unrelated cases, totalling 39 individuals with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity. This group was made up of 18 subjects from 4 unrelated families with a history of aminoglycoside ototoxicity in more than one relative, 8 subjects from 8 families that also had other relatives with hearing loss in absence of aminoglycoside exposure, and 13 sporadic cases. Among the 13 sporadic cases, there were 3 patients with vestibular involvement. Detection of the A1555G mutation was seen by mean of techniques for molecular diagnosis. RESULTS: The A1555G mutation was identified in all of the individuals from 4 families with aminoglycoside-induced cochlear damage and in 6 of 8 individuals with familial hearing loss. None of the sporadic cases carried the mutation. CONCLUSIONS: A high proportion of patients with cochlear damage due to aminoglycoside ototoxicity and having a familial history of hearing loss, related or not to aminoglycoside exposure, harbor the A1555G mutation (AU)