Guía de práctica clínica sobre el manejo del schwannoma vestibular / Clinical practice guideline on the management of vestibular schwannoma

Introducción: El schwannoma vestibular (SV) es el tumor más frecuente del ángulo pontocerebeloso. La mayor accesibilidad a las pruebas radiológicas ha incrementado su diagnóstico. Teniendo en cuenta las características del tumor, la clínica y la edad del paciente se han propuesto tres estrategias terapéuticas, observación, cirugía o radioterapia. La elección de la más adecuada para cada paciente es un motivo de controversia frecuente. Material y métodos: El presente trabajo incluye una revisión exhaustiva sobre cuestiones relativas al SV que pueden servir de guía clínica en el manejo de pacientes con estas lesiones. La presentación se ha orientado en forma de preguntas que el clínico se hace habitualmente y las respuestas están redactadas y/o revisadas por un panel de expertos nacionales e internacionales consultados por la Comisión de Otología de la SEORL-CCC. Resultados: Se ha elaborado un listado con los 13 bloques temáticos más controvertidos sobre el manejo del SV en forma de 50 preguntas y se han buscado las respuestas a todas ellas mediante una revisión sistemática de la literatura (artículos publicados en PubMed y Cochrane Library entre 1992 y 2023 sobre cada bloque temático). Treinta y tres expertos, liderados por la Comisión de Otología de la SEORL-CCC, han analizado y discutido todas las respuestas. En el Anexo 1 pueden encontrarse 14 preguntas adicionales divididas en cuatro bloques temáticos. Conclusiones: Esta guía de práctica clínica sobre el manejo del SV ofrece respuestas consensuadas a las preguntas más habituales que se plantean sobre este tumor. La ausencia de suficientes estudios prospectivos hace que los niveles de evidencia sobre el tema sean en general medios o bajos. Este hecho incrementa el interés de este tipo de guías de práctica clínica elaboradas por expertos.(AU)

IntroductionVestibular schwannoma (VS) is the most common tumour of the cerebellopontine angle. The greater accessibility to radiological tests has increased its diagnosis. Taking into account the characteristics of the tumour, the symptoms and the age of the patient, three therapeutic strategies have been proposed: observation, surgery or radiotherapy. Choosing the most appropriate for each patient is a frequent source of controversy. Material and methods: This paper includes an exhaustive literature review of issues related to VS that can serve as a clinical guide in the management of patients with these lesions. The presentation has been oriented in the form of questions that the clinician usually asks himself and the answers have been written and/or reviewed by a panel of national and international experts consulted by the Otology Commission of the SEORL-CCC. Results: A list has been compiled containing the 13 most controversial thematic blocks on the management of VS in the form of 50 questions, and answers to all of them have been sought through a systematic literature review (articles published on PubMed and Cochrane Library between 1992 and 2023 related to each thematic area). Thirty-three experts, led by the Otology Committee of SEORL-CCC, have analyzed and discussed all the answers. In Annex 1, 14 additional questions divided into 4 thematic areas can be found. Conclusions: This clinical practice guideline on the management of VS offers agreed answers to the most common questions that are asked about this tumour. The absence of sufficient prospective studies means that the levels of evidence on the subject are generally medium or low. This fact increases the interest of this type of clinical practice guidelines prepared by experts.(AU)

Clinical practice guideline on the management of vestibular schwannoma.

INTRODUCTION: Vestibular schwannoma (VS) is the most common tumour of the cerebellopontine angle. The greater accessibility to radiological tests has increased its diagnosis. Taking into account the characteristics of the tumour, the symptoms and the age of the patient, three therapeutic strategies have been proposed: observation, surgery or radiotherapy. Choosing the most appropriate for each patient is a frequent source of controversy. MATERIAL AND METHODS: This paper includes an exhaustive literature review of issues related to VS that can serve as a clinical guide in the management of patients with these lesions. The presentation has been oriented in the form of questions that the clinician usually asks himself and the answers have been written and/or reviewed by a panel of national and international experts consulted by the Otology Commission of the SEORL-CCC. RESULTS: A list has been compiled containing the 13 most controversial thematic blocks on the management of VS in the form of 50 questions, and answers to all of them have been sought through a systematic literature review (articles published on PubMed and Cochrane Library between 1992 and 2023 related to each thematic area). Thirty-three experts, led by the Otology Committee of SEORL-CCC, have analyzed and discussed all the answers. In Annex 1, 14 additional questions divided into 4 thematic areas can be found. CONCLUSIONS: This clinical practice guideline on the management of VS offers agreed answers to the most common questions that are asked about this tumour. The absence of sufficient prospective studies means that the levels of evidence on the subject are generally medium or low. This fact increases the interest of this type of clinical practice guidelines prepared by experts.

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

HYPOTHESIS: Adult genetic sensorineural hearing loss (SNHL) may be underestimated. BACKGROUND: The diagnosis of genetic hearing loss is challenging, given its extreme genetic and phenotypic heterogeneity, particularly in adulthood. This study evaluated the utility of next-generation sequencing (NGS) in the etiological diagnosis of adult-onset SNHL. MATERIALS AND METHODS: Adults (>16 yr old) with SNHL were recruited at the Otolaryngology Department at Marqués de Valdecilla University Hospital (Spain). Environmental factors, acoustic trauma, endolymphatic hydrops, and age-related hearing loss were excluding criteria. An NGS gene panel was used, including 196 genes (OTOgenics v3) or 229 genes (OTOgenics v4) related to syndromic and nonsyndromic hearing loss. RESULTS: Sixty-five patients were included in the study (average age at the onset of SNHL, 41 yr). Fifteen pathogenic/likely pathogenic variants considered to be causative were found in 15 patients (23% diagnostic yield) in TECTA (4), KCNQ4 (3), GJB2 (2), ACTG1 (1), COL2A1 (1), COCH (1), COCH/COL2A1 (1), STRC (1), and ABHD12 (1). Three patients had syndromic associations (20% of patients with genetic diagnosis) that had not been previously diagnosed (two Stickler type I and one polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome). Seven variants of unknown significance were found in COL11A1 (1), GSMDE (2), DNTM1 (1), SOX10 (1), EYA4 (1), and TECTA (1). CONCLUSION: NGS gene panels can provide diagnostic yields greater than 20% for adult SNHL, with a significant proportion of variant of unknown significance that could potentially contribute to increasing diagnostic output. Identifying a genetic cause enables genetic counseling, provides prognostic information and can reveal unrecognized syndromes contributing to an accurate management of their associated manifestations.

Diagnóstico etiológico de la sordera infantil: recomendaciones de la CODEPEH / Aetiological diagnosis of child deafness: CODEPEH recommendations

El importante avance en el campo de la genética molecular, fundamentalmente, así como en el diagnóstico por imagen, junto a la ausencia de un protocolo consensuado que oriente el proceso diagnóstico una vez confirmada la presencia de una sordera tras el cribado neonatal, motivan este nuevo trabajo de la Comisión para la Detección Precoz de la Hipoacusia Infantil (CODEPEH). El Documento de Recomendaciones sobre el diagnóstico etiológico de la sordera, que se basa en la más reciente evidencia científica, ofrece orientaciones de apoyo al profesional en la toma de decisiones que, en todo caso, deben llevarse a cabo sin entorpecer ni retrasar la intervención temprana. Identificar precozmente la causa de la hipoacusia aporta numerosas ventajas: evita molestias innecesarias a las familias, reduce el gasto sanitario derivado de la realización de numerosas pruebas y proporciona información pronóstica, que puede guiar la actuación terapéutica (AU)

Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis. Such diagnosis should be performed without delay and without impeding early intervention. Early identification of the causes of deafness offers many advantages: it prevents unnecessary trouble for the families, reduces health system expenses caused by performing different tests, and provides prognostic information that may guide therapeutic actions (AU)

Aetiological diagnosis of child deafness: CODEPEH recommendations. / Diagnóstico etiológico de la sordera infantil: recomendaciones de la CODEPEH.

Important progress in the fields of molecular genetics (principally) and diagnostic imaging, together with the lack of a consensus protocol for guiding the diagnostic process after confirming deafness by neonatal screening, have led to this new work document drafted by the Spanish Commission for the Early Detection of Child Deafness (Spanish acronym: CODEPEH). This 2015 Recommendations Document, which is based on the most recent scientific evidence, provides guidance to professionals to support them in making decisions regarding aetiological diagnosis. Such diagnosis should be performed without delay and without impeding early intervention. Early identification of the causes of deafness offers many advantages: it prevents unnecessary trouble for the families, reduces health system expenses caused by performing different tests, and provides prognostic information that may guide therapeutic actions.

Hipoacusias hereditarias: asesoramiento genético / Hereditary hearing loss: genetic counselling

El objetivo de esta revisión es proporcionar una visión actualizada de las hipoacusias hereditarias, prestando especial atención al diagnóstico etiológico de las hipoacusias neurosensoriales, a los genes más frecuentemente mutados en nuestro medio, a las técnicas disponibles para su estudio y a las implicaciones clínicas del diagnóstico genético. Al menos el 60% de las hipoacusias neurosensoriales infantiles tienen una causa genética. En los adultos desconocemos el porcentaje de hipoacusias hereditarias. Ante una hipoacusia neurosensorial, la prueba con un mayor rendimiento diagnóstico son los análisis genéticos. El proceso de consejo o asesoramiento genético tiene como fin informar al paciente y sus familiares de la probabilidad de presentar una enfermedad condicionada genéticamente, del riesgo de transmitirla, de las medidas de prevención y diagnóstico precoz disponibles, y de la posibilidad de llevar a cabo un estudio genético. La realización de cualquier análisis genético, siempre ha de venir precedida por el adecuado proceso de asesoramiento genético(AU)

The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, the percentage of hereditary hearing loss is unknown. Genetic testing is the highest yielding test for evaluating patients with sensorineural hearing loss. The process of genetic counselling is intended to inform patients and their families of the medical, psychological and familial implications of genetic diseases, as well as the risks, benefits and limitations of genetic testing. The implementation of any genetic analysis must be always preceded by an appropriate genetic counselling process(AU)

[Hereditary hearing loss: genetic counselling]. / Hipoacusias hereditarias: asesoramiento genético.

The aim of this review is to provide an updated overview of hereditary hearing loss, with special attention to the etiological diagnosis of sensorineural hearing loss, the genes most frequently mutated in our environment, the techniques available for their analysis and the clinical implications of genetic diagnosis. More than 60% of childhood sensorineural hearing loss is genetic. In adults, the percentage of hereditary hearing loss is unknown. Genetic testing is the highest yielding test for evaluating patients with sensorineural hearing loss. The process of genetic counselling is intended to inform patients and their families of the medical, psychological and familial implications of genetic diseases, as well as the risks, benefits and limitations of genetic testing. The implementation of any genetic analysis must be always preceded by an appropriate genetic counselling process.

Mechanism of hot flashes.

Hot flashes are a common and disturbing adverse effect of hormonal therapy for cancer. Their pathophysiology is poorly understood. At present, the leading mechanistic hypothesis rests on the assumption that abrupt hormone deprivation will result in loss of negative feedback over hypothalamic noradrenaline synthesis. In this article we critically review the different theories used to explain this phenomenon. A better understanding of the pathophysiology of hot flashes may facilitate the development of new therapeutic approaches.

Radiation-induced sarcomas of the head and neck.

The aim of this study was to report our experience on the management of radiation-induced sarcomas (RISs). A retrospective study from 1994 to 2003 was done at our institution reviewing the medical records of 5 patients who had RISs. Five patients diagnosed of head and neck cancer received irradiation to treat their diseases. Later on, these patients developed new neoplasms in the irradiation fields (3 malignant fibrous histiocytoma, 1 osteosarcoma, and 1 angiosarcoma). The mean period of latency between irradiation and diagnosis of new tumors was 13 years. Early symptoms included neck or face swelling, odynophagia, or trigeminal hypoesthesia. All of the patients underwent surgical treatment. In 4 cases, regional and free flaps for head and neck reconstruction were required. Three patients also needed neoadjuvant chemotherapy. In the follow-up, 2 patients are alive and free of disease. Wide excision is the treatment of choice for RISs. Previous radiation therapy limits the dose that can be administered to the involved area, and the response rate to the chemotherapy is always poor.