Diagnóstico genético de la hipoacusia neurosensorial infantil / Genetic diagnosis of childhood sensorineural hearing loss

Introducción: La hipoacusia neurosensorial (HNS) congénita o de inicio precoz es una de las enfermedades hereditarias más frecuentes en nuestro medio y es la deficiencia sensorial más frecuente. Es importante realizar un estudio etiológico de la hipoacusia y el estudio genético mediante la secuenciación de nueva generación (NGS) es la prueba con mayor rendimiento diagnóstico. Nuestro estudio muestra los resultados genéticos obtenidos en una serie de pacientes con HNS congénita/de inicio precoz bilateral. Material y método: Se incluyeron 105 niños diagnosticados de HNS bilateral a los que se les realizó un estudio genético entre los años 2019 y 2022. El estudio genético consistió en una secuenciación masiva del exoma completo, filtrando el análisis para los genes incluidos en un panel virtual de hipoacusia con 244 genes. Resultados: Se obtuvo un diagnóstico genético en 48% (50/105) de los pacientes. Se detectaron variantes patogénicas y probablemente patogénicas en 26 genes diferentes, siendo los genes más frecuentemente afectados el gen GJB2, USH2A y STRC. De las variantes detectadas 52% (26/50) se asociaron a una hipoacusia no sindrómica, 40% (20/50) una hipoacusia sindrómica y 8% restante (4/50) se podían asociar tanto a una hipoacusia sindrómica como no sindrómica. Conclusiones: El estudio genético constituye una parte fundamental del diagnóstico etiológico de la HNS bilateral. Nuestra serie muestra que el estudio genético de la hipoacusia mediante NGS tiene un alto rendimiento diagnóstico y nos proporciona información de gran utilidad en la práctica clínica.(AU)

Introduction: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. Materials and methods: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). Results: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. Conclusions: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.(AU)

Diagnostic yield of genetic testing in adults with sensorineural hearing loss.

INTRODUCTION: The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL. MATERIALS AND METHODS: We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed. RESULTS: 24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes. CONCLUSIONS: Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.

Genetic diagnosis of childhood sensorineural hearing loss.

INTRODUCTION: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. MATERIALS AND METHODS: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). RESULTS: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. CONCLUSIONS: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.

Clinical experience with the Nurotron™ cochlear implant in a Spanish-speaking postlingual population: Clinical safety and audiological results.

OBJECTIVE: to assess clinical safety and postoperative audiological outcomes in postlingual deafness Spanish speaking patients, who underwent surgery with Nurotron™ cochlear implant. MATERIAL AND METHODS: Retrospective descriptive case series study. We performed follow-up of complications and audiological measurements before and after cochlear implantation. Patients with bilateral severe to profound sensorineural hearing loss or patients with unilateral deafness with/without tinnitus were included. Repeated-measures within-subjects for assess pure tone thresholds and speech performance (bilingual test) with a detailed monitoring to establish security or adverse effects were performed. Analysis of variance tests, repetitive measures, were used for statistical analysis. RESULTS: 31 patients were included, 17 (54.8%) men and 14 (45.2%) women. Mean age at the time of surgery was 49.82 ±â€¯18.8 years. The mean follow-up of the group was 31.56 ±â€¯9.57 months (minimum = 19.6 months and maximum = 52.50 months). As major complication one patient (3.23%) had a hard failure that required removal and re-implantation. 25.8% of the patients presented minor complications, the most frequent being vertigo/unsteadiness in 22.6%. The mean of language discrimination (free field at 65 dB SPL) was 62.19% ±â€¯16.66; being 69.82% ±â€¯7.35 in the group of severe to profound bilateral sensorineural hearing loss. A statistically significant reduction was observed in patients with tinnitus, assessed using the visual analogue scale, preoperative = 7.2 ±â€¯1,6 vs postoperative (18months postoperative) = 1.7 ±â€¯1.3 (p < .001). CONCLUSIONS: The Nurotron™ cochlear implant shows satisfactory audiological results, in accordance with what has been reported in the literature. Minor complications were similar to previous studies, but the percentage of hard failure should continue to be observed, which was higher than other reports with comparable follow-up.

Manifestaciones otorrinolaringológicas del Síndrome VEXAS. Revisión sistemática / Ear, nose, and throat manifestations of VEXAS Syndrome. Systematic review

Introducción y objetivo: El síndrome VEXAS (SV) es una entidad de descripción reciente que afecta fundamentalmente a varones, y se debe a una mutación somática en el gen UBA1. Puede cursar con múltiples manifestaciones sistémicas, siendo la afectación de cabeza y cuello muy frecuente. El objetivo de este estudio fue describir las manifestaciones otorrinolaringológicas del SV, que contribuyan a un diagnóstico y tratamiento temprano de la enfermedad. Método: Se realizó una revisión de la literatura médica, utilizando los criterios PRISMA adaptados al tipo de estudio, de las manifestaciones otorrinolaringológicas del SV, utilizando la base de datos PubMed. Resultados: Fueron incluidos en nuestro trabajo 81 artículos que cumplían los criterios de inclusión del mismo, los cuales describían 133 casos. Los resultados mostraron que el SV se produce, sobre todo, en varones mayores de 50 años de edad, presentando en más de la mitad de los casos, manifestaciones de cabeza y cuello, entre las que destacan la CA, la condritis nasal y el edema periorbitario. Conclusiones: Con frecuencia el SV es confundido, en los pacientes con manifestaciones otorrinolaringológicas, con la policondritis recurrente. El conocimiento por parte del otorrinolaringólogo de las manifestaciones de cabeza y cuello asociadas al mismo, puede contribuir a un diagnóstico y tratamiento temprano mejorando el pronóstico de la enfermedad. (AU)

Introduction and objectives: VEXAS syndrome (VS) is a recently described clinical entity that mainly affects males, and is due to a somatic mutation in the UBA1 gene. It can present with multiple systemic manifestations, especially hematological and dermatological, being the affectation of the head and neck very frequent, especially, auricular chondritis (AC). The objective of this study was to describe the otorhinolaryngological manifestations of VS, knowledge of which by the otolaryngologist could contribute to early diagnosis and treatment of the disease. Methods: A review of the medical literature was carried out, using the PRISMA criteria adapted to the type of study, of the otorhinolaryngological manifestations of VS, from its description in the year 2020 to December 2022, using the Pubmed database. Results: 81 articles that met the inclusion criteria were included in our work, which described 133 cases in detail. The results showed that VS occurs mainly in men over 50 years of age, presenting in more than half of the cases head and neck manifestations, among which AC, nasal chondritis and periorbital edema stand out. Conclusions: Since VS can affect any part of the body, mimicking the clinical pictures of other diseases, it has often been confused, in patients with otorhinolaryngological manifestations, especially with recurrent polychondritis. Knowledge by the otolaryngologist of the head and neck manifestations associated with it can contribute to early diagnosis and treatment, improving the prognosis of the disease. (AU)

Does mandibular osteotomy affect the infraorbital nerve? a prospective study.

OBJECTIVES: The aim of this study was to evaluate the sensory function of the infraorbital nerve after orthognathic surgery (OS). MATERIALS AND METHODS: Patients who underwent Le Fort I osteotomy with or without BSSO for dentofacial deformity treatment were studied. Two groups were created according to whether BSSO was performed. Class A tests were performed to determine the degree of peripheral nerve damage. The Class B test was performed if decreased sensation was detected in at least one of these tests. A Class C test was performed if abnormal sensation was detected. RESULTS: Twenty-eight patients (n=56) who underwent OS were included in this prospective study. Of the patients, 57.1% were female, 42.9% were male, and the mean age was 24.6 (±3.8). Seven patients were in group 1 (n=14), and 21 patients were in group 2 (n=42). In both groups, there were statistically significant differences between T1 and T2 (p<0.001), and the mean NSD score at T2 was higher than that at T1. The mean NSD score in the single jaw group was higher than that in the double jaw group at all time points. CONCLUSIONS: Bimaxillary surgeries had a negative effect on the somatosensory changes that developed in the early period. The upper lip's somatosensorial recovery was faster than IOR and single jaw recovery was faster than double jaw. CLINICAL RELEVANCE: Maxillofacial surgeons performing orthognathic surgery should be aware that in double jaw operations, changes in the somatosensory function of the ION are more severe.

Evaluation of von Willebrand factor and protein/creatinine ratio in idiopathic sudden hearing loss / Evaluación del Factor Von Willebraund y la Relación Proteína/Creatinina en la Hipoacusia Súbita Idiopática

Objective The objective of this study was to evaluate the levels of von Willebraund Factor (vWF) in plasma and the protein/creatinine ratio in urine in patients with idiopathic sudden acute hearing loss, which we think to be caused by epithelial dysfunction. Materials-Methods Thirty patients with a sudden hearing loss and thirty healthy individuals were included in the study. Before the treatment, blood and urine were collected from the patients and the control group to investigate the levels of the protein/creatinine ratio and the levels of vWF. The test results of the patients group were compared with those of the control group. Results We found that the levels of vWF increased in the patient group, which was statistically significant (P<.05). The protein/creatinine ratio in the urine increased in the patient group, but this was not statistically significant (P>.05). In addition, we found that the vWF and urine protein/creatin ratio of the patients who benefited from treatment were lower than those who did not benefit. Conclusions This study showed that sudden sensorineural hearing loss may result from endothelial dysfunction. However, more studies that include more patients are needed in order to support this. (AU)

Objetivo El objetivo de este estudio fue evaluar los niveles de factor de von Willebraund (vWF) en plasma y la relación proteína/creatinina en orina en pacientes con hipoacusia aguda súbita idiopática, que creemos que es causada por una disfunción epitelial. Material-Método Treinta pacientes con hipoacusia súbita y treinta individuos sanos fueron incluidos en el estudio. Antes del tratamiento, se recogieron sangre y orina de los pacientes y del grupo de control para investigar los niveles de relación proteína/creatinina y los niveles de vWF. Los resultados de las pruebas del grupo de pacientes se compararon con el grupo de control. Resultados En la literatura, se sabe que la cantidad de proteína en la orina y las elevaciones en los niveles de vWF en plasma son las consecuencias de la disfunción endotelial. Encontramos que los niveles de vWF aumentaron en el grupo de pacientes y esto fue estadísticamente significativo. Sin embargo, la relación proteína/creatinina en la orina aumentó en el grupo de pacientes, pero esto no fue estadísticamente significativo. Además, encontramos que el vWF y la relación proteína/creatina en orina de los pacientes que se beneficiaron del tratamiento fueron más bajos que los que no se beneficiaron. Conclusiones Este estudio muestra que la pérdida auditiva neurosensorial súbita puede resultar de una disfunción endotelial. Sin embargo, se necesitan más estudios que incluyan más pacientes para respaldar esto. (AU)

Efectividad de empelo de magnesio quelado versus sulfato de inc en el tratamiento de pacienes con diagnóstico de tinnitus de causa neurosensorial / Effectiveness of chelated magnesium use versus inc sulfate in the treatment of patients diagnosed with sensorineural tinnitus

Objetivo: Caracterizar la efectividad en el manejo y seguridad del empleo del magnesio quelado versus sulfato de zinc el tratamiento de pacientes con diagnóstico de tinnitus de causa neurosensorial, en el Hospital Clínico Viedma, durante la gestión 2022. Conclusión: Se demostró que los mejores resultados tanto efectos benéficos (mejora score THI a los dos o cinco meses), como efectos adversos (poca presentación de cefalea y diarrea), se dio en el grupo 1, validado clínicamente con RR de 0.4-0.97 y los efectos adversos se dieron en el grupo 2 con RR de 3.67-3-88.

Development of a mammalian neurosensory full-thickness skin equivalent and its application to screen sensitizing stimuli.

Human skin equivalents (HSEs) are an increasingly popular research tool due to limitations associated with animal testing for dermatological research. They recapitulate many aspects of skin structure and function, however, many only contain two basic cell types to model dermal and epidermal compartments, which limits their application. We describe advances in the field skin tissue modeling to produce a construct containing sensory-like neurons that is responsive to known noxious stimuli. Through incorporation of mammalian sensory-like neurons, we were able to recapitulate aspects of the neuroinflammatory response including secretion of substance P and a range of pro-inflammatory cytokines in response to a well-characterized neurosensitizing agent: capsaicin. We observed that neuronal cell bodies reside in the upper dermal compartment with neurites extending toward the keratinocytes of the stratum basale where they exist in close proximity to one another. These data suggest that we are able to model aspects of the neuroinflammatory response that occurs during exposure to dermatological stimuli including therapeutics and cosmetics. We propose that this skin construct can be considered a platform technology with a wide range of applications including screening of actives, therapeutics, modeling of inflammatory skin diseases, and fundamental approaches to probe underlying cell and molecular mechanisms.

Actualización en el diagnóstico y tratamiento del hemangioma coroideo / Update on the diagnosis and treatment of choroidal hemangioma

El hemangioma coroideo es un tumor vascular benigno dependiente de la circulación coroidea. Se distinguen 2tipos de lesiones: circunscrita, variante más frecuente, y difusa, asociada normalmente al síndrome de Sturge-Weber. El hemangioma coroideo circunscrito se presenta como una masa anaranjada que puede aparecer de manera asintomática, sin embargo, cuando produce síntomas, lo más frecuente es la disminución de la agudeza visual debido a un desprendimiento de retina neurosensorial. Debido a su carácter benigno solo deberían ser subsidiarios de tratamiento aquellos que produzcan síntomas. El conocimiento de esta enfermedad y su correcto diagnóstico diferencial es muy relevante para establecer el diagnóstico y tratamiento adecuado y evitar tratamientos innecesarios. En la actualidad existe una gran variedad de pruebas de imagen de diagnóstico multimodal que nos permiten identificar y realizar un seguimiento adecuado de este tumor. Además, en los últimos años, gracias al empleo de la terapia fotodinámica, se ha producido un cambio en el paradigma del tratamiento de estas lesiones, lo cual ha supuesto una mejora significativa en el pronóstico visual de estos pacientes. Esto se ha debido al empleo de la terapia fotodinámica, como tratamiento de elección para el hemangioma coroideo circunscrito (AU)

Choroidal hemangiomais a benign vascular tumor dependent on the choroid. Two types of lesions are distinguished: circumscribed, the most frequent variant, and diffuse, normally associated with Sturge-Weber syndrome. The circumscribed choroidal hemangioma appears as an orange mass that can present asymptomatically, however, when it produces symptoms, the most frequent is decreased visual acuity due to neurosensory retinal detachment. Due to its benign nature, only those that produce symptoms should be eligible for treatment. Knowledge of this pathology and its correct differential diagnosis is very relevant to establish the appropriate diagnosis and treatment, avoiding unnecessary treatments. There is currently a wide variety of multimodal diagnostic imaging tests that allow us to identify and adequately monitor this tumor. In addition, in recent years, there has been a change in the paradigm of the treatment of these tumors thanks to the use of photodinamic therapy, which has led to a significant improvement in the visual prognosis of these patients. This has been due to the use of photodynamic therapy as the treatment of choice for circumscribed choroidal hemangioma (AU)

Update on the diagnosis and treatment of choroidal hemangioma.

Choroidal hemangioma (CH) is a benign vascular tumor dependent on the choroid. Two types of lesions are distinguished: circumscribed (CCH), the most frequent variant, and diffuse (DCH), normally associated with Sturge-Weber syndrome. HCC appears as an orange mass that can present asymptomatically, however, when it produces symptoms, the most frequent is decreased visual acuity due to neurosensory retinal detachment. Due to its benign nature, only those that produce symptoms should be eligible for treatment. Knowledge of this pathology and its correct differential diagnosis is very relevant to establish the appropriate diagnosis and treatment, avoiding unnecessary treatments. There is currently a wide variety of multimodal diagnostic imaging tests that allow us to identify and adequately monitor this tumor. In addition, in recent years, there has been a change in the paradigm of the treatment of these tumors thanks to the use of photodinamic therapy, which has led to a significant improvement in the visual prognosis of these patients. This has been due to the use of photodynamic therapy as the treatment of choice for HCC.

Intervención logopédica en un caso de disfagia orofaríngea tras ictus isquémico bulbar combinando ejercicios motores, estimulación química y estimulación eléctrica neuromuscular / Speech therapy intervention in a case of oropharyngeal dysphagia after bulbar ischemic stroke combining motor exercises, chemical stimulation and neuromuscular electrical stimulation

Antecedentes: La disfagia orofaríngea es un trastorno prevalente, que produce graves complicaciones para la salud y la calidad de vida de los pacientes. Objetivo: El objetivo de este trabajo fue realizar una intervención logopédica combinando ejercicios motores, estimulación química y estimulación eléctrica neuromuscular para la rehabilitación de la disfagia orofaríngea en un caso de ictus isquémico bulbar. Pacientes y métodos: Se elaboró un protocolo de intervención combinando ejercicios motores, estimulación química y estimulación eléctrica neuromuscular y se aplicó a una única paciente valorando el resultado a través de un estudio retrospectivo. Resultados: Tras 2 meses de tratamiento y 45 sesiones la paciente mejoró la sensibilidad de la orofaringe, recuperó el olfato y el gusto, redujo el residuo faríngeo y progresó en la tolerancia oral a mayores volúmenes de consistencia néctar e inició la tolerancia oral de consistencia líquida. Conclusiones: Esta intervención podría ayudar a mejorar la sensibilidad orofaríngea y la tolerancia oral en pacientes con disfagia orofaríngea.(AU)

Background: Oropharyngeal dysphagia is a prevalent disorder that produces serious complications for the health and quality of life of patients. Objective: The objective of this work was to carry out a speech therapy intervention combining motor exercises, chemical stimulation and neuromuscular electrical stimulation for the rehabilitation of oropharyngeal dysphagia in a case of bulbar ischemic stroke. Patients and methods: An intervention protocol combining motor exercises, chemical stimulation and neuromuscular electrical stimulation was developed and applied to a single patient, evaluating the result through a retrospective study. Results: After 2 months of treatment and 45 sessions, the patient improved the sensitivity of the oropharynx, recovered smell and taste, reduced pharyngeal residue, progressed in oral tolerance to greater volumes of nectar consistency and began oral tolerance of liquid consistency. Conclusions: This intervention could help improve oropharyngeal sensitivity and oral tolerance in patients with oropharyngeal dysphagia.(AU)

Neuroanatomy of the crocodylomorph Portugalosuchus azenhae from the late cretaceous of Portugal.

We present the first detailed braincase anatomical description and neuroanatomical study of Portugalosuchus azenhae, from the Cenomanian (Late Cretaceous) of Portugal. This eusuchian crocodylomorph was originally described as a putative Crocodylia and one of the oldest representatives of this clade; however, its phylogenetic position remains controversial. Based on new data obtained from high resolution Computed Tomography images (by micro-CT scan), this study aims to improve the original description of this taxon and also update the scarce neuroanatomical knowledge of Eusuchia and Crocodylia from this time interval, a key period to understand the origin and evolution of these clades. The resulting three-dimensional models from the CT data allowed a detailed description of its well-preserved neurocranium and internal cavities. Therefore, it was possible to reconstruct the cavities of the olfactory region, nasopharyngeal ducts, brain, nerves, carotid arteries, blood vessels, paratympanic sinus system and inner ear, which allowed to estimate some neurosensorial capabilities. By comparison with other crocodylomorphs, these analyses showed that Portugalosuchus, back in the Cenomanian, already displayed an olfactive acuity, sight, hearing and cognitive skills within the range of that observed in other basal eusuchians and crocodylians, including extant species. In addition, and in order to test its disputed phylogenetic position, these new anatomical data, which helped to correct and complete some of the original observations, were included in one of the most recent morphology-based phylogenies. The position of Portugalosuchus differs slightly from the original publication since it is now located as a "thoracosaurid" within Gavialoidea, but still as a crocodylian. Despite all this, to better contrast these results, additional phylogenetic analyses including this new morphological character coding together with DNA data should be performed.

Evaluation of von Willebrand factor and protein/creatinine ratio in idiopathic sudden hearing loss.

OBJECTIVE: The objective of this study was to evaluate the levels of von Willebraund Factor (vWF) in plasma and the protein/creatinine ratio in urine in patients with idiopathic sudden acute hearing loss, which we think to be caused by epithelial dysfunction. MATERIALS-METHODS: Thirty patients with a sudden hearing loss and thirty healthy individuals were included in the study. Before the treatment, blood and urine were collected from the patients and the control group to investigate the levels of the protein/creatinine ratio and the levels of vWF. The test results of the patients group were compared with those of the control group. RESULTS: We found that the levels of vWF increased in the patient group, which was statistically significant (P<.05). The protein/creatinine ratio in the urine increased in the patient group, but this was not statistically significant (P>.05). In addition, we found that the vWF and urine protein/creatin ratio of the patients who benefited from treatment were lower than those who did not benefit. CONCLUSIONS: This study showed that sudden sensorineural hearing loss may result from endothelial dysfunction. However, more studies that include more patients are needed in order to support this.

Hipoacusia Neurosensorial en el síndrome de Alport: Una revisión Sistemática / Sensorineural hearing loss in Alport syndrome: A systematic review

El Síndrome de Alport (SA) es un desorden genético originado por mutaciones en el colágeno tipo IV que es el constituyente principal de las membranas basales. Clínicamente, se caracteriza por nefropatía hereditaria progresiva. En el oído interno, el colágeno IV se encuentra ubicado en la membrana basilar y en el ligamento espiral, por lo que las mutaciones en los genes codificadores provocan hipoacusia de tipo neurosensorial. La presente investigación tiene por objetivo caracterizar el comportamiento de la pérdida de audición en personas diagnosticadas con SA, mediante la revisión de estudios de la literatura. Se realizó una búsqueda en bases de datos con los criterios de inclusión establecidos, incorporando un total de siete artículos para su análisis. Teniendo en cuenta los hallazgos de las diversas investigaciones recopiladas, se concluye que la pérdida auditiva secundaria al SA es heterogénea. No hay un patrón común de presentación pues depende del modo de herencia y del tipo de mutación de la enfermedad, además su grado de severidad y progresión va paralelo a la función renal. Sin embargo, independientemente del momento en que se manifieste el deterioro auditivo, es de vital importancia una intervención audiológica oportuna, con el fin de detectar la hipoacusia lo más temprano posible, hacer un seguimiento riguroso de la funcionalidad auditiva y, en caso de ser necesario, adaptar ayudas auditivas de acuerdo con las necesidades comunicativas del paciente

Alport Syndrome (AS) is a genetic disorder originated by mutations in the collagen type IV which is the main constituent of the basal membranes. Clinically, is characterized by progressive hereditary nephropathy. In the inner ear, the collagen IV is ubicated in the basilar membrane and in the spiral ligament, whereby the mutations in the codifier gens, cause neurosensorial hearing loss. The aim of this investigation is to characterize how hearing loss behaves in people diagnosed with AS, by presenting a reviewing of reported studies in the literature. A database search was performed with the established criteria of inclusion and a total of seven articles were incorporated for its analysis. Considering the findings by the several investigations collected the conclusion is that the secondary hearing loss to AS is heterogenous. There is no a common pattern of presentation as it depends on the mode of heredity and the type of mutation of the disease, and besides of the degree of severity and progression that goes along with the renal function. Nevertheless, regardless of the moment that the auditive impair appears, it is of vital importance an opportune audiological intervention, aiming at detecting an alteration as soon as possible, make a rigorous tracking of the auditive functionality and, if necessary, incorporate hearing aids in accordance with the communicative needs of the patients

Síndrome Congénito del ZIKA y su relación con la pérdida auditiva en infantes: Una revisión de la literatura / Congenital ZIKA syndrome and its relationship to hearing loss in infants: A review of literature

Introducción: Los niños con microcefalia secundario al Virus Zika, se agrupan bajo el síndrome congénito del Zika (SZC), el extremo más grave de un espectro de defectos de nacimiento que incluyen además alteraciones en las funciones sensoriales de visión y audición, ya que el virus Zika está incluido dentro de las infecciones virales causadoras de hasta el 40% de las pérdidas auditivas congénitas y adquiridas. Objetivo: identificar en la literatura científica la relación existente entre el Síndrome Congénito del Zika y la pérdida de audición en infantes. Metodología: Revisión sistemática en las principales bases de datos como Science Direct ­ Elsevier, Online Library, Coronavirus Databases, Embase, Springer, entre otras. Resultados: Se encontraron 18 artículos indexados con descriptores de los cuales se incluyeron 8 al cumplir con los criterios de inclusión y exclusión. Discusiones: se evidencia que la pérdida de audición está presente en las diversas poblaciones de infantes evaluadas por medio de pruebas objetivas, las cuales permiten obtener respuestas importantes de la actividad eléctrica a nivel del nervio y la vía auditiva, presentándose fallas notables en los niños con síndrome congénito del Zika. Conclusiones: De acuerdo a los estudios incluidos en la presente investigación es poca la evidencia científica que pueda aportar una asociación significativa y absoluta entre el síndrome congénito del Zika y la pérdida de audición en infantes.

Introduction: Infants with microcephaly secondary to Zika Virus, are grouped under Congenital Zika Syndrome (CZS), the most severe end of a spectrum of birth defects that also include alterations in the sensory functions of vision and hearing, since Zika virus is included within the viral infections causing up to 40% of congenital and acquired hearing loss. Objective: to identify in the scientific literature the relationship between congenital Zika syndrome and hearing loss in infants. Methodology: Systematic review in the main databases such as Science Direct ­ Elsevier, Online Library, Coronavirus Databases, Embase, Springer, among others. Results: 18 articles were found indexed with descriptors of which 8 were included as they met the inclusion and exclusion criteria. Discussions: it is evident that hearing loss is present in the various populations of infants evaluated by means of objective tests, which allow obtaining important responses of the electrical activity at the level of the auditory nerve and pathway, presenting notable failures in children with congenital Zika syndrome. Conclusions: According to the studies included in the present investigation there is little scientific evidence that can provide a significant and absolute association between congenital Zika syndrome and hearing loss in infants.

Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome / Maculopatia simétrica bilateral e heterocromia na síndrome de Waardenburg

ABSTRACT Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed symmetrical pigmentation of the retina and choroid, with atrophy of the pigment epithelium in the macular region, notably also in the eye with normal iris pigment illustrating the broad spectrum of the iris and fundus pigmentation as part of this syndrome. A carefully clinical and ophthalmological evaluation should be done to differentiate various types of Waardenburg syndrome and other associated auditory-pigmentary syndrome. Early diagnosis in some cases may be crucial for the adequate development of patients affected with this condition.

RESUMO A síndrome de Waardenburg é uma doença genética congênita rara caracterizada por perda auditiva neurossensorial e anormalidades pigmentares do cabelo, da pele e dos olhos. Com base nas diferentes apresentações clínicas, é dividida em quatro subtipos (WS1 a WS4). Este relato descreve o caso de um menino de 15 anos que apresentava baixa visão e perda auditiva bilateral. Sua acuidade visual era de 20/200 em ambos os olhos. O exame em lâmpada de fenda revelou heterocromia completa da íris, com uma íris azul e uma íris marrom. A fundoscopia mostrou pigmentação simétrica da retina e coroide, com atrofia do epitélio pigmentar na região macular, notadamente também no olho com pigmento de íris normal, ilustrando o amplo espectro de pigmentação de íris e fundo como parte dessa síndrome. Uma avaliação clínica e oftalmológica criteriosa deve ser feita para diferenciar os vários tipos de síndrome de Waardenburg e outras síndromes auditivo-pigmentares associadas. O diagnóstico precoce em alguns casos pode ser crucial para o desenvolvimento adequado dos pacientes acometidos por essa condição.

Sudden sensorineural hearing loss: Recovery rates according to audiometric patterns.

PURPOSE: The aim of this study was to evaluate the different audiometric patterns in sudden sensorineural hearing loss (SSNHL), assess recovery rates based on the initial pattern and also, analyse the impact on speech discrimination scores (SDS). METHODS: A retrospective, descriptive, study was completed for patients with SSNHL from January 2010 until June 2020. Outcome measures included audiometric patterns, recovery rates, improvements over time for hearing loss as well as for SDS at 14 days and 3 months follow-up. The Kruskal-Wallis test and Mann-Whitney U test were used to compare differences between the different groups. Post-hoc testing involved the Wilcoxon signed-rank test. A P<0.05 was considered statistically significant. RESULTS: We included 211 patients, 64.3% showed downward-sloping or flat audiometric curves. Overall, 40% of the patients had recovered 50% or more of their hearing by day 14. We observed that hearing did improve over time, and this was more common for the upward-sloping cases, with 65% recovering to at least 50% of the maximum possible recovery by 3 months follow-up. Thirty percent had concomitant vertigo and/or dizziness; these patients had worse initial speech PTAs (pure tone average) (P≤0.0001) and inferior recovery rates (P=0.0007) as compared to patients without vertigo and/or dizziness. CONCLUSION: SSNHL is still a controversial topic. Variability was observed with regards to audiometric curves, recovery rates and SDS recovery. We provide a table with recovery rates based on audiometric patterns that may help guide clinicians when explaining this condition to their patients.

Sudden sensorineural hearing loss: Recovery rates according to audiometric patterns

Purpose: The aim of this study was to evaluate the different audiometric patterns in sudden sensorineural hearing loss (SSNHL), assess recovery rates based on the initial pattern and also, analyse the impact on speech discrimination scores (SDS).MethodsA retrospective, descriptive, study was completed for patients with SSNHL from January 2010 until June 2020. Outcome measures included audiometric patterns, recovery rates, improvements over time for hearing loss as well as for SDS at 14 days and 3 months follow-up. The Kruskal–Wallis test and Mann–Whitney U test were used to compare differences between the different groups. Post-hoc testing involved the Wilcoxon signed-rank test. A P<0.05 was considered statistically significant.ResultsWe included 211 patients, 64.3% showed downward-sloping or flat audiometric curves. Overall, 40% of the patients had recovered 50% or more of their hearing by day 14. We observed that hearing did improve over time, and this was more common for the upward-sloping cases, with 65% recovering to at least 50% of the maximum possible recovery by 3 months follow-up. Thirty percent had concomitant vertigo and/or dizziness; these patients had worse initial speech PTAs (pure tone average) (P≤0.0001) and inferior recovery rates (P=0.0007) as compared to patients without vertigo and/or dizziness.ConclusionSSNHL is still a controversial topic. Variability was observed with regards to audiometric curves, recovery rates and SDS recovery. We provide a table with recovery rates based on audiometric patterns that may help guide clinicians when explaining this condition to their patients. (AU)

Objetivo: El objetivo de este estudio fue evaluar los diferentes patrones audiométricos de la hipoacusia neurosensorial súbita (SSNHL), las tasas de recuperación sobre la base del patrón inicial, y analizar su impacto en las puntuaciones de discriminación del habla (SDS).MétodosSe realizó un estudio retrospectivo y descriptivo para pacientes con SSNHL desde enero de 2010 a junio de 2020. Los resultados incluyeron patrones audiométricos, tasas de recuperación, mejoras a lo largo del tiempo de la hipoacusia, así como de SDS a 14 días, y transcurridos 3 meses. Se utilizaron la prueba de Kruskal-Wallis y U de Mann-Whitney para comparar las diferencias entre los diferentes grupos. Las pruebas post-hoc incluyeron la prueba de Wilcoxon de rango con signo. Se consideró un valor p<0,05 estadísticamente significativo.ResultadosIncluimos 211 pacientes, de los cuales el 64,3% presentó curvas descendentes o planas. En general, el 40% de los pacientes había recuperado el 50% o más de audición en el día 14. Observamos que la audición mejoró con el tiempo, siendo esto más común para los casos de curva ascendente, en los que el 65% había recuperado al menos el 50% del valor máximo posible en el seguimiento a los 3 meses. El 30% tuvo vértigo y/o mareo concomitante, y estos pacientes reflejaron peores PTA iniciales del habla (medias de tonos puros) (p≤0,0001) y tasas de recuperación inferiores (p=0,0007) en comparación con los pacientes sin vértigo y/o mareo.ConclusiónLa SSNHL continua siendo tema controvertido. Se observó variabilidad con respecto a las curvas audiométricas, tasas de recuperación y recuperación de SDS. Aportamos aquí una tabla que incluye las tasas de recuperación basadas en patrones audiométricos, que puede ayudar a los clínicos a la hora de explicar esta situación a sus pacientes. (AU)

Evaluación neurológica durante el primer año en niños muy bajo peso al nacer con infección por citomegalovirus / Neurological evaluation during the first year in very low birth weight children with cytomegalovirus infection

Introducción: La infección congénita por citomegalovirus es causa de pérdida auditiva y alteraciones cognitivas. La infección perinatal por este virus es más frecuente en neonatos< 1500 g y produce menos secuelas neurológicas. Objetivo: Describir la evaluación neurológica en el primer año de vida en niños muy bajo peso al nacer con infección por citomegalovirus. Métodos: Estudio descriptivo y longitudinal en el que se incuyeron 14 neonatos< 1500 g, con diagnóstico de infección congénita o perinatal por citomegalovirus; a los cuales se les realizó evaluación del neurodesarrollo, ultrasonido craneal, potenciales evocados auditivos de tallo cerebral y potenciales visuales a las 40 semanas, a los seis meses y al año de edad gestacional corregida. En la primera evaluación se realizó además, electroencefalograma. Resultados: El 43 por ciento tuvo infección congénita y 57 por ciento infección perinatal. A las 40 semanas se evaluaron completamente 79 % de los casos, a los seis meses 64 por ciento y al año 36 por ciento. No se observaron anormalidades en el ultrasonido craneal, ni en el electroencefalograma. Al año de edad corregida, se detectaron alteraciones ligeras del neurodesarrolo en 33,3 por ciento del total de casos (2/6) y con igual porcentaje en los niños con infección congénita (1/3) y perinatal (1/3). En ningún paciente evaluado se detectó sordera neurosensorial, ni daño del nervio visual. Conclusiones: Las alteraciones del neurodesarrollo encontradas al año de edad corregida pueden estar relacionadas con la prematuridad o la infección por citomegalovirus. El seguimiento a mediano y largo plazo es necesario para detectar otras secuelas neurológicas de debut tardío(AU)

Introduction: Congenital cytomegalovirus infection is a cause of hearing loss and cognitive impairments. Perinatal infection by this virus is more frequent in neonates< 1500 g and produces fewer neurological sequelae. Objective: To describe neurological evaluation in the first year of life in very low birth weight children with cytomegalovirus infection. Methods: A descriptive and longitudinal study involving 14 neonates< 1500 g, with a diagnosis of congenital or perinatal cytomegalovirus infection; to which neurodevelopmental evaluation, cranial ultrasound, auditory brain stem evoked potentials and visual potentials were performed at 40 weeks, six months and one year of corrected gestational age. In the first evaluation, electroencephalogram was also performed. Results: 43 percent had congenital infection and 57 percent perinatal infection. At 40 weeks, 79 percent of cases were fully evaluated, at six months 64 percent and at one year 36 percent. No abnormalities were observed on the cranial ultrasound or electroencephalogram. At one year of corrected age, slight alterations in neurodevelopment were detected in 33.3 percent of all cases (2/6) and with the same percentage in children with congenital (1/3) and perinatal (1/3) infection. In no patient evaluated, sensorineural deafness or visual nerve damage was detected. Conclusions: The neurodevelopmental alterations found at one year of corrected age may be related to prematurity or cytomegalovirus infection. Medium- and long-term follow-up is necessary to detect other late-onset neurological sequelae(AU)