[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.

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

Objetivo: Determinar las características de la hipoacusia secundaria a la mutación Q829X en el gen OTOF, que ha sido descrita como la tercera causa genética más frecuente de hipoacusia prelocutiva en la población española. Material y métodos: Se realizó un estudio clínico y genético de 16 individuos pertenecientes a una familia consanguínea de Cantabria en la que cuatro miembros presentaban hipoacusia. Resultados: Se detectó en homozigosis la mutación Q829X en el gen OTOF en los cuatro individuos que presentaban déficit auditivo. La hipoacusia era neurosensorial, bilateral, simétrica, de intensidad profunda y de comienzo prelocutivo. No se encontraron otras alteraciones asociadas. En los portadores heterozigotos de la mutación la audición era normal. Conclusiones: La mutación Q829X en el gen OTOF produce hipoacusia neurosensorial de intensidad severa-profunda y de inicio prelocutivo. Es importante la detección precoz de individuos afectados portadores de esta mutación, para iniciar un tratamiento lo antes posible (AU)

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 (AU)

[Program of hearing loss early detection in newborn infants in Cantabria. Results of the first year of activities]. / Programa de detección precoz de la hipoacusia en neonatos en Cantabria. Resultados del primer año de funcionamiento.

AIMS: To report the findings in the first year of follow-up of the Cantabrian Program to screen newborn babies for congenital permanent hearing loss. METHODS: The study population consisted of infants born during a year period in Cantabria (Spain). Universal hearing screening by transient evoked otoacoustic emissions (TEOAE) in 2 stage protocol was performed. Infants with failure scores in these 2 stages and those with risk factors for hearing loss were referred for diagnostic evaluation with auditory brainstem response. Hearing aids were recommended for those infants who had bilateral hearing loss and referrals to infant speech and language rehabilitation. RESULTS: Out of the 4117 eligible babies, 3987 were studied. One hundred and ten (2.6) had risk factors for hearing loss, 3.5% were referred for audiological assessment and 1.2/1000 were diagnosed as having a permanent hearing loss. The false-positive rate was 0.72% after the two-stage screening procedure was performed. Positive predictive value for permanent hearing loss was 10%. CONCLUSIONS: During the first year working with the Cantabrian Screening Program for congenital permanent hearing loss in newborn babies, the most part of the proposed aims have been achieved.

Programa de detección precoz de la hipoacusia en neonatos en Cantabria. Resultados del primer año de funcionamiento / Early hearing loss detection program for newborn babies in Cantabria. First year results

Objetivos: Evaluar los hallazgos obtenidos en el primer año de funcionamiento del Programa Cántabro para la Detección Precoz de la Hipoacusia Neonatal. Métodos: El ámbito de estudio incluyó a todos los recién nacidos en la Comunidad Autónoma de Cantabria (España) entre el 1 de abril de 2001 y 31 de marzo de 2002. El programa se dividió en 4 fases; las 3 primeras son las que se incluyen en este estudio: fase de screening con otoemisiones acústicas automatizadas (OAE), fase de diagnóstico con potenciales evocados auditivos (neonatos con OAE negativas y/o factores de riesgo de hipoacusia) y fase de tratamiento (adaptación de prótesis auditivas y rehabilitación logopédica). Resultados: Durante el periodo de estudio nacieron 4.117 niños, de los que 110 (2,6%) tenían factores de riesgo. Un 0,8 por ciento de los neonatos sin factores de riesgo y un 3,5 por ciento del total de los incluidos en el programa fueron remitidos a la fase de diagnóstico. 3.987 niños (96,8%) completaron el estudio. La incidencia de hipoacusia permanente fue de 1.2/1000. El valor predictivo positivo en los neonatos sin factores de riesgo fue del 10% y el porcentaje de falsos positivos respecto a la población sometida a screening del 0,72%. Conclusiones: En el primer año de funcionamiento del Programa Cántabro de Detección Precoz de la Hipoacusia Infantil se han cumplido la mayor parte de los objetivos de calidad propuestos (AU)

AIMS: To report the findings in the first year of follow-up of the Cantabrian Program to screen newborn babies for congenital permanent hearing loss. METHODS: The study population consisted of infants born during a year period in Cantabria (Spain). Universal hearing screening by transient evoked otoacoustic emissions (TEOAE) in 2 stage protocol was performed. Infants with failure scores in these 2 stages and those with risk factors for hearing loss were referred for diagnostic evaluation with auditory brainstem response. Hearing aids were recommended for those infants who had bilateral hearing loss and referrals to infant speech and language rehabilitation. RESULTS: Out of the 4117 eligible babies, 3987 were studied. One hundred and ten (2.6) had risk factors for hearing loss, 3.5% were referred for audiological assessment and 1.2/1000 were diagnosed as having a permanent hearing loss. The false-positive rate was 0.72% after the two-stage screening procedure was performed. Positive predictive value for permanent hearing loss was 10%. CONCLUSIONS: During the first year working with the Cantabrian Screening Program for congenital permanent hearing loss in newborn babies, the most part of the proposed aims have been achieved (AU)

[Diagnosis and treatment of cervical esophageal perforation in adults]. / Diagnóstico y tratamiento de las perforaciones de esófago cervical en adultos.

OBJECTIVE: To evaluate the management of cervical esophageal perforation in adult patients. MATERIAL AND METHODS: A retrospective clinical review was made of all cervical esophageal perforations diagnosed in adult patients in the ear, nose and throat department of Marqués de Valdecilla Hospital (Santander, Spain) between January 1989 and December 1996. Age, sex, symptoms, cause of perforation, time to diagnosis, diagnostic studies, treatment, and evolution were obtained from the clinical records. RESULTS: Eleven patients with perforation of the cervical esophagus, age range 38 to 84 years, were seen in the study period. In 8 cases, perforation was caused by a foreign body and 3 cases were iatrogenic (after rigid esophagoscopy). The most frequent symptoms of presentation were cervical pain and odinophagia. Nine patients were treated with broad-spectrum intravenous antibiotic therapy and no oral feeding. Two patients were treated surgically. There were no complications or need for further surgery in any case. CONCLUSIONS: Small perforations of the cervical esophagus in adult patients produced by foreign body impaction or rigid esophagoscopy can be managed by observation, restricted oral intake, and intravenous antibiotics. Neck exploration should be reserved for patients with signs and symptoms of cervical or mediastinal infection.

[Foreign bodies in the esophagus]. / Cuerpos extraños de esófago.

OBJECTIVE: To study the management (diagnostic and therapeutic) of esophageal foreign bodies. MATERIAL AND METHODS: A retrospective study was made of all rigid esophagoscopies performed for suspected foreign bodies in the esophagus by the otolaryngology department of Marqués de Valdecilla Hospital (Santander, Spain) from 1992 to 1996. RESULTS: Rigid esophagoscopy was performed for suspected foreign bodies in 195 patients (121 females, 74 males; age range 2 to 97 years). In 183 cases an impacted foreign body was found. The most frequent location was the upper third of the esophagus (165/85.2%). The most common type of foreign body was fish bones in adults (75/171) and coins in children (7/12). In 145 cases a barium esophagogram was obtained before surgery, which yielded 1 false negative and 8 false positives. In 16 patients flexible endoscopy had failed previously to remove the foreign body. Twelve patients (all adults) had serious complications. CONCLUSIONS: The barium esophagogram and rigid esophagoscopy are still appropriate techniques for managing esophageal foreign bodies.

[Differential diagnosis of bilateral progressive sensorineural loss. A report of a case secondary to neurofibromatosis 2]. / Diagnóstico diferencial de la hipoacusia neurosensorial bilateral progressiva. A propósito de un caso secundario a neurofibromatosis tipo II.

Progressive bilateral sensorineural hearing loss (BSNHL) was the first manifestation of type II neurofibromatosis in a young patient with no family or personal history of neurofibromatosis. The differential diagnosis of BSNHL is described and a diagnostic protocol is proposed.

[Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia). Report of 30 cases]. / La enfermedad de Rendu-Osler-Weber (telangiectasia hemorrágica hereditaria). Presentación de 30 casos.

OBJECTIVE: To study the prevalence and modes of presentation of hereditary hemorrhagic telangiectasia (HHT) in Cantabria, Spain. MATERIALS AND METHODS: A retrospective study was made of all patients diagnosed as HHT in Cantabria in the last 20 years (1976-1995). The presence/absence of family history, recurrent nosebleed, mucosal and cutaneous telangiectasia, visceral involvement, and course of the disease were evaluated. RESULTS: Thirty patients ranging in age from 17 to 75 years were diagnosed as HHT in the study period. Most of them had a family history of recurrent nasal bleeding. The main symptom was nosebleed. Pulmonary arteriovenous fistulas were found in 7 patients and gastrointestinal manifestations in 10 patients. Five patients died of complications directly attributable to the disease. CONCLUSIONS: The minimum prevalence of HHT in Cantabria is 1:12,200, Patients with recurrent nosebleed, particularly if a family history of epistaxis is present, should undergo exploration of the oral cavity for telangiectasia. Early diagnosis of HHT can help to avoid unnecessary diagnostic procedures and contribute to the early detection of associated visceral malformations. The treatment of HHT should be individualized.