Presbiacusia y trastornos del equilibrio en personas mayores. Revision bibliográfica de aspectos etiopatogénicos, consecuencias sobre la calidad de vida y efectos positivos de su tratamiento / Presbycusis and balance disorders in the elderly. Bibliographical review of ethiopathogenic aspects, consequences on quality of life and positive effects of its treatment

A día de hoy, todavía no disponemos de un conocimiento ni una concienciación adecuados sobre las consecuencias que alcanza en la calidad de vida la pérdida de audición en personas mayores. De la misma manera, tampoco existe información suficiente en cuanto a la relación de la presbiacusia y las alteraciones del equilibrio con otras comorbilidades. Dicho conocimiento puede contribuir a mejorar tanto la prevención como el tratamiento de estas patologías, a reducir su impacto en otras áreas como la cognición o la autonomía, así como para poseer una información más certera sobre el impacto económico que generan en la sociedad y en el sistema sanitario.Por ello, con la realización de este artículo de revisión nos planteamos actualizar la información sobre el tipo de hipoacusia y las alteraciones del equilibrio en personas mayores de 55 años, así como sus factores asociados; analizar el impacto que genera en la calidad de vida de estas personas y el que se puede generar a nivel personal y poblacional (tanto en el ámbito sociológico como económico) si se persigue una intervención temprana en estos pacientes. (AU)

At this time, we still do not have adequate knowledge and awareness of the consequences of hearing loss in the elderly on quality of life. Similarly, there is also insufficient information on the relationship of presbycusis and balance disorders with other comorbidities. Such knowledge can contribute to improve both prevention and treatment of these pathologies, to reduce their impact on other areas such as cognition or autonomy, as well as to have more accurate information on the economic impact they generate in society and in the health system.Therefore, with this review article we aim to update the information on the type of hearing loss and balance disorders in people over 55 years of age, and their associated factors; to analyze the impact on the quality of life of these people and the one which can be generated at a personal and population level (both sociological and economic) if an early intervention in these patients is pursued. (AU)

Presbycusis and balance disorders in the elderly. Bibliographical review of ethiopathogenic aspects, consequences on quality of life and positive effects of its treatment.

At this time, we still do not have adequate knowledge and awareness of the consequences of hearing loss in the elderly on quality of life. Similarly, there is also insufficient information on the relationship of presbycusis and balance disorders with other comorbidities. Such knowledge can contribute to improve both prevention and treatment of these pathologies, to reduce their impact on other areas such as cognition or autonomy, as well as to have more accurate information on the economic impact they generate in society and in the health system. Therefore, with this review article we aim to update the information on the type of hearing loss and balance disorders in people over 55 years of age, and their associated factors; to analyze the impact on the quality of life of these people and the one which can be generated at a personal and population level (both sociological and economic) if an early intervention in these patients is pursued.

Balloon Eustachian tuboplasty for obstructive Eustachian tube dysfunction: retrospective multicentre cohort study of 248 patients.

OBJECTIVE: To present the results after balloon eustachian tuboplasty (BET) in patients with obstructive Eustachian tube dysfunction (OETD) grouped up into: baro-challenge, chronic serous otitis media and adhaesive otitis media. METHODS: A retrospective study was carried out on patients who underwent BET surgery. As outcome measures, otoscopy, tympanometry, Eustachian tube dysfunction questionnaire-7 (ETDQ-7) and ability to perform the Valsalva manoeuvre were recorded at baseline and at 3, 12 and 24 months after BET. A p value of 0.05 was used to indicate a statistically significant difference for all statistical tests. RESULTS: Three hundred and nineteen ears (248 patients) were included with a 3-month follow-up, 272 ears had a 12-month follow-up, and 171 ears had 24-month follow-up. Globally, a statistical significance improvement in all groups in all outcome measures was found. According to BET indication, in the baro-challenge group, there was no improvement in otoscopy, but ETDQ-7, Valsalva manoeuvre and tympanogram improved significantly. In the chronic serous otitis media group, otoscopy, ETDQ-7 and Valsalva manoeuvre were significantly improved in all the three timelines, including the avoidance of a new transtympanic tube after the BET in over 80% of cases. In the adhaesive otitis media group, Valsalva manoeuvre improved significantly, ETDQ-7 decreased and tympanogram improved but not significantly. Few mild complications were reported. CONCLUSIONS: BET is an effective method for the treatment of OETD in all etiologic groups. The greatest benefit was observed in patients with baro-challenge. A long-term follow-up is recommended since the benefit seems to increase over time.

Consenso sobre el tratamiento de la disfunción tubárica obstructiva mediante dilatación con balón / Consensus on treatment of obstructive Eustachian tube dysfunction with balloon Eustachian tuboplasty

OBJETIVO: Existe una gran variabilidad en el diagnóstico de la disfunción tubárica obstructiva y su tratamiento mediante la dilatación tubárica con balón (DTB). El objetivo de este trabajo es presentar unas recomendaciones de consenso sobre las indicaciones, contraindicaciones, metodología, complicaciones y resultados de la DTB. MATERIALES Y MÉTODOS: Presentamos un consenso sobre la DTB, mediante revisión sistemática de la literatura desde 1966 hasta noviembre de 2018, términos MESH Eustachian tube and (dilation or dysfunction), recogiendo un total de 1.943 artículos en español, inglés, alemán y francés. Del total de artículos revisados se seleccionaron 139 cuyo abstract era relevante, incluyendo 2 consensos internaciones sobre diagnóstico, 7 revisiones sistemáticas y 2 ensayos clínicos aleatorizados sobre la DTB. RESULTADOS: Las indicaciones de la DTB son el barotrauma, la otitis media secretora, la otitis media adhesiva, la atelectasia y el fracaso de una timpanoplastia, siempre que se haya podido demostrar una disfunción tubárica obstructiva crónica. La efectividad de la DTB es mayor en el barotrauma y la otitis media secretora. Hay estudios publicados de elevada evidencia sobre la DTB, cuyos buenos resultados se mantienen a largo plazo, frente a tratamiento médico conservador. CONCLUSIONES: La DTB es un procedimiento quirúrgico mínimamente invasivo que ha demostrado su efectividad y seguridad en el tratamiento de la disfunción tubárica crónica en adultos y en niños. Las indicaciones en las que es más efectiva son el barotrauma y la otitis media secretora

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Consensus on treatment of obstructive Eustachian tube dysfunction with balloon Eustachian tuboplasty. / Consenso sobre el tratamiento de la disfunción tubárica obstructiva mediante dilatación con balón.

OBJECTIVE: There is a great variability in diagnosis of obstructive Eustachian tube dysfunction and its treatment by balloon Eustachian tuboplasty (BET). The aim of this paper was to present a consensus on indications, contraindications, methodology, complications and results after BET. MATERIAL AND METHODS: We obtained a consensus on BET, after a systematic review of the literature on BET from 1966 to November 2018, using MESH terms «Eustachian tube and (dilation or dysfunction)¼, including a total of 1.943 papers in Spanish, English, German and French. We selected 139 papers with a relevant abstract, including two international consensuses, seven systematic revisions, and two randomised control trials on BET. RESULTS: The indications for BET are barotrauma, serous otitis media, adhesive otitis, atelectatic middle ear and failure after tympanoplasty, once obstructive Eustachian tube dysfunction is confirmed. BET is more effective in barotrauma and serous otitis media. There are high- evidence reports on BET showing good results that persist long-term, as compared to conservative medical treatment. CONCLUSIONS: BET is a surgical, minimally invasive treatment that has shown its effectiveness and safety in obstructive Eustachian tube dysfunction in adults and children. It is most effective in barotrauma and serous otitis media.

Impact of an oral appliance on obstructive sleep apnea severity, quality of life, and biomarkers.

OBJECTIVE/HYPOTHESIS: To investigate outcomes including efficacy, quality of life, and levels of inflammatory markers of a mandibular advancement device (MAD) for moderate-to-severe obstructive sleep apnea (OSA). STUDY DESIGN: Case-control study. METHODS: Patients with apnea-hypopnea index (AHI) ≥ 15/hr who only accepted MAD therapy (study group) or who refused any treatment (control group) were recruited. At baseline and at 6 months, polysomnography, Epworth Sleepiness Scale (ESS), Functional Outcomes of Sleep Questionnaire (FOSQ), C-reactive protein (CRP), interleukin 1ß, interleukin 6, and tumor necrosis factor α (TNF-α) were assessed in both groups. RESULTS: At baseline, the study group (n = 30) showed a higher percentage of rapid eye movement sleep and higher CRP levels (P < .05) than the control group (n = 10). At 6 months, the MAD significantly improved AHI and lowest oxygen saturation (P < .01), non-rapid eye movement (N)1 and N3 sleep stages (P < .05), ESS score (P < .05), FOSQ total score (P < .01), interleukin 1ß (P < .05), and TNF-α (P < .01) compared with the untreated group. In the overall, moderate, and severe OSA groups, 63.3%, 75%, and 50%, respectively, achieved at least good response. CONCLUSIONS: Use of a MAD significantly improved polysomnographic parameters, quality of life, and some inflammatory markers (CRP, IL-ß, and TNF-α) in a significant proportion of patients with moderate OSA and in some patients with severe OSA. Hence, a MAD may be a viable alternative therapy in patients with moderate-to-severe OSA who refuse continuous positive airway pressure. LEVEL OF EVIDENCE: 3b. Laryngoscope, 128:1720-1726, 2018.

Surgical planning after sleep versus awake techniques in patients with obstructive sleep apnea.

OBJECTIVE/HYPOTHESIS: This study examined correlations between surgical recommendations based on either drug-induced sleep endoscopy (DISE) or common awake examination methods in patients with obstructive sleep apnea syndrome (OSAS). STUDY DESIGN: Prospective, blinded, clinical trial at a university hospital. METHODS: An otorhinolaryngologist designed surgical plans for patients with OSAS after clinical examination, lateral cephalometry, the Müller maneuver, and Friedman staging. A second otorhinolaryngologist blinded to the previous plans made surgical recommendations after DISE. A third person tested agreement between the two sets of plans using Cohen's kappa statistic and the chi-squared test. RESULTS: One hundred and sixty-two patients (15 females, 147 males) completed the protocol. Good correlation was observed between DISE and Friedman staging regarding recommendations for isolated oropharyngeal or multilevel surgery (kappa = 0.61). Correlations between DISE and clinical examination, lateral cephalometry, and the Müller maneuver regarding surgical procedures on specific structures contributing to upper airway obstruction ranged from fair for velum/tonsil surgery (k = 0.41-0.60) to poor (k = 0.01-0.20) for tongue-base, lateral pharyngeal wall, and epiglottal surgery. The most informative value was DISE versus clinical evaluation, lateral cephalometry, and the Müller maneuver, which changed surgical recommendations concerning the structures contributing to hypopharyngeal or laryngeal obstruction in > 40% of patients. CONCLUSIONS: Our results indicate that DISE provides more information about the anatomical locations and pattern of obstruction, particularly regarding the specific structures contributing to hypopharyngeal and laryngeal obstruction. DISE changes surgical decision making compared to awake evaluation methods.

Benefits of the HiRes 120 coding strategy combined with the Harmony processor in an adult European multicentre study.

CONCLUSION: The Harmony processor was found to be reliable, comfortable and offered a substantially increased battery life compared with the previous generation processor. No significant improvement in speech understanding with HiRes was demonstrated from objective measures, but the majority of subjects showed a clear subjective preference for the combination HiRes 120/Harmony processor. OBJECTIVES: To evaluate experience with the Harmony™ sound processor, together with the HiRes 120 strategy. METHODS: Postlingually deafened adults implanted with a CII or HiRes 90K were included and divided into three groups: (1) experienced users using the Platinum body-worn processor; (2) experienced users who had been using other processors; (3) new users with the Harmony processor from first fitting. The latter group entered a randomized crossover protocol where half were initially fitted with HiRes and half with HiRes 120. The initial strategy was used for 3 months and the alternative for a further 3 months. Speech perception tests and questionnaires were performed. RESULTS: The study included 65 subjects. Implementing HiRes 120 was straightforward. The speech test group results did not show significant differences between HiRes and HiRes 120. However, the questionnaires showed significantly higher ratings for HiRes 120 in some instances. Subjects were highly satisfied with the Harmony processor.

Complicaciones y fallos de la implantación coclear / Cochlear implant complications and failures

Introducción: La implantación coclear es una cirugía con poca morbimortalidad que se realiza a pacientes con hipoacusia neurosensorial profunda bilateral. Con el paso del tiempo sus indicaciones han aumentado, y la edad de implantación ha disminuido. Sin embargo, como cualquier cirugía, presenta complicaciones, y dentro de estas el fallo técnico constituye un motivo de preocupación por la inminente necesidad de reimplante. Objetivo: Evaluar las complicaciones derivadas de la implantación coclear, determinar sus causas y discutir el manejo terapéutico. Material y métodos: Se realizó un estudio retrospectivo de los implantes cocleares realizados. Se obtuvieron un total de 246 implantes en un período de 11 años, 123 menores de 10 años y 123 mayores de 10 años. De ellos, 138 hombres y 108 mujeres. Los dispositivos colocados fueron: Advanced Bionics (129), MED-El (95) y Cochlear (22). Se analizaron las complicaciones y los fallos del dispositivo. Resultados: Se reportaron un total de 28 complicaciones, que corresponde a un 11,38%. Encontramos 7 complicaciones menores y 21 mayores, entre las cuales se incluyen 2 casos de mastoiditis y uno de meningitis. El porcentaje de fallos es de 6,5% y constituye la complicación más frecuente. Se reportó un porcentaje de fallos más alto en niños menores de 10 años. Conclusión: La implantación coclear es una técnica con baja incidencia de complicaciones, las cuales suelen resolverse. Sin embargo, el fallo del dispositivo continúa siendo un problema. Es importante estudiar sus causas, ya que esto permitirá desarrollar técnicas y buscar soluciones que permitan disminuir su aparición (AU)

Introduction: Cochlear implantation is a relatively safe surgery performed on profound bilateral hearing loss patients. Its surgical indications have increased and the age of implantation has decreased over the last years. As with any other surgery, it presents complications; device failure is one of the most important, given its potential risk for the need to explant and reimplant the device. Objective: To evaluate cochlear implant complications, determine possible causes and discuss medical and surgical management. Material and methods: A retrospective study of cochlear implants was performed. A total of 246 implants over an eleven-year period were evaluated. The sample consisted of 123 implants in patients younger than 10 years old, and 123 in those older than 10 years old; there were 138 males and 108 females. The devices implanted were 129 Advance Bionics, 95 MED-El, and 22 Cochlear. Complications and device failures were analysed. Results: A total of 28 complications were reported, which corresponds to 11.38% of all implants. Seven minor complications and 21 mayor complications were found. Device Failure was the most frequent complication, reported in 6.5% of all implants, and it was more frequent among children less than 10 years old. Conclusions: Cochlear implant surgery has a low complication rate. Complications are usually resolved easily, but device failure continues to be a problem. It is important to keep studying the causes of such failure to find possible solutions that can lead to lowering and resolving its appearance (AU)

[Cochlear implant complications and failures]. / Complicaciones y fallos de la implantación coclear.

INTRODUCTION: Cochlear implantation is a relatively safe surgery performed on profound bilateral hearing loss patients. Its surgical indications have increased and the age of implantation has decreased over the last years. As with any other surgery, it presents complications; device failure is one of the most important, given its potential risk for the need to explant and reimplant the device. OBJECTIVE: To evaluate cochlear implant complications, determine possible causes and discuss medical and surgical management. MATERIAL AND METHODS: A retrospective study of cochlear implants was performed. A total of 246 implants over an eleven-year period were evaluated. The sample consisted of 123 implants in patients younger than 10 years old, and 123 in those older than 10 years old; there were 138 males and 108 females. The devices implanted were 129 Advance Bionics, 95 MED-El, and 22 Cochlear. Complications and device failures were analysed. RESULTS: A total of 28 complications were reported, which corresponds to 11.38% of all implants. Seven minor complications and 21 mayor complications were found. Device Failure was the most frequent complication, reported in 6.5% of all implants, and it was more frequent among children less than 10 years old. CONCLUSIONS: Cochlear implant surgery has a low complication rate. Complications are usually resolved easily, but device failure continues to be a problem. It is important to keep studying the causes of such failure to find possible solutions that can lead to lowering and resolving its appearance.

[Paediatric cochlear implantation in the critical period of the auditory pathway, our experience]. / La implantación coclear pediátrica en el periodo crítico de la vía auditiva, nuestra experiencia.

INTRODUCTION: Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in prelingual deaf children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends. METHODS: We conducted an observational, longitudinal, retrospective study of 57 children suffering profound prelingual bilateral sensorineural hearing loss who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed. RESULTS: The analysis of audiometric thresholds showed no differences between children receiving the implants at different ages. However, statistically significant differences (p<0.05) were found in speech tests between groups of children receiving the implants before and after 4 years of age. CONCLUSIONS: Our results are in line with other publications showing differences in auditory performance when comparing children with early implants versus children receiving the implants at a later age. We found the greatest differences at 4 years of age. Nevertheless, these findings should not exclude children over this age from implantation.

La implantación coclear pediátrica en el periodo crítico de la vía auditiva, nuestra experiencia / Paediatric cochlear implantation in the critical period of the auditory pathway, our experience

Introducción: Datos experimentales y clínicos apuntan a que existe un periodo crítico o sensible en el que la vía auditiva desarrolla el mayor potencial de plasticidad y aprendizaje. Se ha demostrado que la implantación coclear precoz en ese periodo conlleva un mejor pronóstico respecto a la adquisición del lenguaje. El objetivo del presente trabajo es demostrar la importancia de la implantación coclear en ese periodo crítico. Métodos: Se ha realizado un estudio observacional, longitudinal y retrospectivo en 57 niños con hipoacusia neurosensorial bilateral profunda de inicio prelingual implantados en nuestro servicio, entre junio de 1998 y noviembre de 2006, con dispositvos de Advanced Bionics. Se han analizado los resultados obtenidos en audiometría tonal liminar, test de bisílabos adaptado a niños, test de frases en abierto y escala de Nottingham. Resultados: No se han observado diferencias en el análisis de los umbrales audiométricos de los niños implantados a distintas edades. Sin embargo, cuando se analizan los resultados de los tests logoaudiométricos, sí se han encontrado diferencias estadísticamente significativas (p<0,05) en los grupos de niños implantados antes y después de los 4 años de edad. Conclusiones: Nuestros resultados son coherentes con los de otras publicaciones en las que se evidencian claras diferencias en el rendimiento auditivo de los niños implantados precozmente con respecto a la implantación más tardía. Hemos encontrado las mayores diferencias en el límite de los 4 años de edad. No obstante, estos hallazgos no deben hacer que se excluya de la implantación a los niños que hayan sobrepasado esa edad (AU)

Introduction: Numerous experimental and clinical studies have suggested a critical or sensitive period in which the auditory pathway develops its greatest potential in terms of plasticity and learning. Early cochlear implantation performed in prelingual deaf children in this period provides a better prognosis for language acquisition. The aim of this study is to show the importance of cochlear implantation before this critical period ends. Methods: We conducted an observational, longitudinal, retrospective study of 57 children suffering profound prelingual bilateral sensorineural hearing loss who had received Advanced Bionics implants at our ENT department between June, 1998, and November, 2006. Data on their audiometric thresholds, the disyllabic word test adapted to children, open-set sentences recognition test and the Nottingham scale were analyzed. Results: The analysis of audiometric thresholds showed no differences between children receiving the implants at different ages. However, statistically significant differences (p<0.05) were found in speech tests between groups of children receiving the implants before and after 4 years of age. Conclusions: Our results are in line with other publications showing differences in auditory performance when comparing children with early implants versus children receiving the implants at a later age. We found the greatest differences at 4 years of age. Nevertheless, these findings should not exclude children over this age from implantation (AU)

Randomized study comparing two tongue base surgeries for moderate to severe obstructive sleep apnea syndrome.

OBJECTIVE: To compare the effectiveness and morbidity of the tongue base radiofrequency and tongue base suspension techniques combined with uvulopalatopharyngoplasty for moderate to severe obstructive sleep apnea. STUDY DESIGN AND SETTING: Prospective and randomized surgical trial at a university hospital. METHODS: In total, 57 patients received either tongue base radiofrequency reduction (n = 29) or tongue base suspension (n = 28). Apnea-hypopnea index, lowest oxygen saturation (polysomnography), Epworth score, and side effects were assessed. Success was defined as a > or =50 percent reduction and final apneahypopnea index < 15/h, and an Epworth score < 11. RESULTS: The success rates of the two procedures were 57.1 percent and 51.7 percent, respectively (P = 0.79), but only 12.5 percent and 10 percent, respectively (P = 0.87), in obese patients. Body mass index (P = 0.0002) was the main predictor of success in a logistic regression analysis. Tongue base suspension demonstrated higher morbidity (P < 0.05). CONCLUSIONS: The effectiveness of tongue base suspension was similar to that of tongue base radiofrequency reduction, although with significantly higher morbidity, for moderate to severe obstructive sleep apnea. The effectiveness of both techniques was lower in obese patients. SIGNIFICANCE: Neither technique should be used in obese patients who have moderate to severe obstructive sleep apnea.

An experimental comparative study of dexamethasone, melatonin and tacrolimus in noise-induced hearing loss.

CONCLUSION: The calcineurin inhibitor tacrolimus (TCR) and the pineal gland hormone and antioxidant melatonin (MLT) have been shown to possess otoprotective properties against noise-induced hearing loss (NIHL). In contrast, dexamethasone (DXM) was not effective as an otoprotective agent against NIHL. Further studies are needed to understand the exact molecular mechanisms involved. OBJECTIVE: Exposure to noise pollution and use of audio devices for long periods of time at high volume is known to cause hearing loss or NIHL. Our goal was to evaluate the effectiveness of various known compounds such as the anti-inflammatory DXM, the antioxidant MLT and the immunosuppressant TCR against NIHL. MATERIALS AND METHODS: Thirty-two Wistar rats were randomly divided into groups that were then exposed to intense white noise at 120 dB SPL for 4 h. The day before and for a period of 14 days, test groups were administered one of the three compounds. The efficacy of the compounds against NIHL was determined after examining the shifts in the levels of distortion product otoacoustic emissions (DPOAEs) and changes in the threshold of auditory brainstem responses (ABRs). Cytocochleograms and determination of gene expression in whole rat cochlea were carried out at day 21. RESULTS: Treatment with DXM had no otoprotective effect, while animals treated with MLT experienced an improvement in their hearing functionality. This effect, which is probably linked to MLT's ability to reduce c-fos and TNF-alpha gene expression thereby preventing outer hair cell (OHC) loss, was even more pronounced in week 3. For its part, TCR provided protection against injury to the cochlea from week 1, eventually leading to a full recovery in hearing. The compound reduced both c-fos and TNF-alpha expression, as well as OHC loss.

Time course of episodes of definitive vertigo in Meniere's disease.

OBJECTIVE: To evaluate the frequency and duration of episodes of definitive vertigo in Ménière's disease. DESIGN: Prospective longitudinal study. SETTING: Multiple tertiary referral centers. PATIENTS: Five hundred ten individuals from 8 hospitals that met the American Academy of Otolaryngology-Head and Neck Surgery diagnostic criteria for definitive Ménière's disease. INTERVENTION: Conservative treatment. MAIN OUTCOME MEASURE: Frequency and duration of episodes of definitive vertigo during follow-up. RESULTS: Ménière's disease affects both sexes and both ears equally, with onset generally in the fourth decade of life. The number of episodes of vertigo is greater in the first few years of the disease. Although episodes of vertigo that last longer than 6 hours are less frequent than shorter episodes, they occur with similar frequency throughout the natural course of the disease. The percentage of patients without episodes of vertigo increases as the disease progresses, and 70% of patients who did not have an episode of vertigo for 1 year will continue to be free of episodes during the following year. Thus, there is a relationship between the frequency of episodes in consecutive years, although this association decreases rapidly as the number of years increases. CONCLUSION: The frequency of definitive episodes of vertigo in Ménière's disease decreased during follow-up, and many individuals reached a steady-state phase free of vertigo.

Follicular adenomatoid odontogenic tumor: immunohistochemical study.

Adenomatoid odontogenic tumor (AOT) is an uncommon benign odontogenic lesion that affects young patients, with female predominance, mainly in second decade, showing a radiolucent unilocular image associated with an unerupted tooth, usually a canine. In spite of previous and confusing denominations, such as adenoameloblastoma or adenomatoid ameloblastic tumor, AOT is a benign tumor with a very low rate of recurrence, that show a peculiar morphological picture (basaloid appearance with glandular-like structures, calcifying areas, and amiloid-like material) that allow its histopathological recognition. We present a clinicopathological analysis of a case of follicular AOT affecting the mandible in a 9 years-old female patient associated with unerupted lower left canine. Immunohistochemical study showed some data previously unrecognised. All cellular types that composed AOT showed nuclear positivity for p63 indicating a basal characterization in the different cellular components. According to its benign character and low potential for recurrence, AOT revealed a scant proliferative activity (2-3% nuclei showed Ki-67 positivity) limited to some epithelial nodules (AE1-3 +) of fusiform appearance. Absence of reactivity for hormonal receptors (RE and RPg) excluded a possible hormonodependence in AOT that could explain the observed female predominance.

Tumor odontogenico adenomatoide folicular: Estudio inmunohistoquimico / Follicular adenomatoid odontogenic tumor: immunohistochemical study

El tumor odontogénico adenomatoide (TOA) es una infrecuente lesión odontogénica benigna, que aparece en pacientesjóvenes, generalmente mujeres en la segunda década de la vida, a menudo como una lesión radiolúcida de aspecto quístico unilocular, en asociación a un diente, usualmente canino, no erupcionado.A pesar de haberse denominado también adenoameloblastoma o tumor ameloblástico adenomatoide, el TOA es una lesión benigna con una muy baja tendencia a la recidiva, mostrando una morfología muy peculiar (apariencia basaloide con estructuras glanduliformes, calcificaciones esferulares, presencia de material amiloide) que facilitan su reconocimientohistológico. Se presenta un análisis clínico-patológico de un TOA de tipo folicular de maxilar inferior, en asociación a la inclusiónde un canino inferior izquierdo, en una paciente pediátrica de 9 años. El estudio inmunohistoquímico realizado muestra algunos datos previamente no referidos. A pesar de existir distintos tipos celulares en el TOA se observo una universal inmunorreactividad para p63, demostrando el carácter basal de los distintos elementos que lo constituyen. En concordancia con su benignidad y con su baja tasa de recidiva existe una escasa actividad proliferativa (2-3% de núcleos marcados por el antígeno Ki-67), estando la proliferación reducida a pequeños nódulos de células epiteliales (AE1-3 +) de núcleos elongados o fusiformes; de otra parte la mayor incidencia en pacientes de sexo femenino no puede ser explicada en base a la existencia de una hormonodependecia tumoral dada la ausencia de expresión de receptores hormonales (RE y RPg)

Adenomatoid odontogenic tumor (AOT) is an uncommon benign odontogenic lesion that affects young patients, with female predominance, mainly in second decade, showing a radiolucent unilocular image associated with an unerupted tooth, usually a canine.In spite of previous and confusing denominations, such as adenoameloblastoma or adenomatoid ameloblastic tumor, AOT is a benign tumor with a very low rate of recurrence, that show a peculiar morphological picture (basaloid appearance with glandular-like structures, calcifying areas, and amiloid-like material) that allow its histopathological recognition.We present a clinicopathological analysis of a case of follicular AOT affecting the mandible in a 9 years-old female patient associated with unerupted lower left canine. Immunohistochemical study showed some data previously unrecognised.All cellular types that composed AOT showed nuclear positivity for p63 indicating a basal characterization in the different cellular components. According to its benign character and low potential for recurrence, AOT revealed a scant proliferative activity (2-3% nuclei showed Ki-67 positivity) limited to some epithelial nodules (AE1-3 +) of fusiform appearance. Absence of reactivity for hormonal receptors (RE and RPg) excluded a possible hormonodependence in AOT that could explain the observed female predominance

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a need for studies on genotype-phenotype correlations, to identify distinctive clinical features which may direct the molecular diagnosis to specific genes. Here we present a mutation analysis and a genotype-phenotype correlation study on the gene encoding otoferlin (OTOF), responsible for the DFNB9 subtype of prelingual hearing impairment. Four novel mutations were identified: c.2122C>T (p.Arg708Ter), c.4275G>A (p.Trp1425Ter), c.4362+2T>G, and c.5860_5862delATC (p.Ile1954del). A total of 37 subjects with mutations in OTOF were studied clinically. They were phenotypically homogeneous, having profound hearing impairment with very early onset, as shown by pure-tone audiometry and auditory brainstem responses. Magnetic resonance imaging and computed tomography did not reveal any inner ear malformation. Unexpectedly, transient evoked otoacoustic emissions (TEOAEs) were present, either bilaterally or unilaterally in 11 subjects. Altogether, clinical data of these subjects met the diagnostic criteria of auditory neuropathy. A total of 10 subjects had been successfully provided with cochlear implants. The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first detection test for hearing impairment in newborns, since this technique may overlook a nonnegligible proportion of cases.