RESUMO
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.
Assuntos
Neuroma Acústico , Neuroma Acústico/terapia , Neuroma Acústico/diagnóstico , Neuroma Acústico/diagnóstico por imagem , Humanos , Conduta ExpectanteRESUMO
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.
Assuntos
Catarata , Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Adulto , Humanos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Surdez/complicações , Sequenciamento de Nucleotídeos em Larga Escala , Perda Auditiva/complicações , Mutação , Transativadores , Peptídeos e Proteínas de Sinalização Intercelular/genética , Monoacilglicerol Lipases/genéticaRESUMO
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.
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Irradiação Craniana/efeitos adversos , Neoplasias de Cabeça e Pescoço/etiologia , Neoplasias Induzidas por Radiação/cirurgia , Segunda Neoplasia Primária/etiologia , Sarcoma/etiologia , Adulto , Idoso , Feminino , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/radioterapia , Neoplasias de Cabeça e Pescoço/cirurgia , Hemangiossarcoma/etiologia , Hemangiossarcoma/cirurgia , Histiocitoma Fibroso Maligno/etiologia , Histiocitoma Fibroso Maligno/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Neoplasias Induzidas por Radiação/tratamento farmacológico , Segunda Neoplasia Primária/tratamento farmacológico , Segunda Neoplasia Primária/cirurgia , Osteossarcoma/etiologia , Osteossarcoma/cirurgia , Estudos Retrospectivos , Sarcoma/tratamento farmacológico , Sarcoma/cirurgia , Adulto JovemRESUMO
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.
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Surdez/etiologia , Técnicas de Diagnóstico Otológico , Idade de Início , Criança , Pré-Escolar , Surdez/congênito , Surdez/epidemiologia , Surdez/genética , Técnicas de Diagnóstico Otológico/normas , Orelha/anormalidades , Diagnóstico Precoce , Feminino , Perda Auditiva/congênito , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Perda Auditiva/genética , Testes Auditivos , Humanos , Lactente , Recém-Nascido , Exame Físico , Gravidez , Complicações Infecciosas na Gravidez , Viroses/complicações , Viroses/diagnósticoRESUMO
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.
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Aconselhamento Genético , Perda Auditiva/genética , Adulto , Criança , Meio Ambiente , Feminino , Previsões , Genes Dominantes , Genes Mitocondriais , Genes Recessivos , Genes Ligados ao Cromossomo X , Aconselhamento Genético/legislação & jurisprudência , Testes Genéticos , Perda Auditiva/classificação , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Perda Auditiva/prevenção & controle , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/prevenção & controle , Humanos , Masculino , Técnicas de Diagnóstico Molecular , Espanha/epidemiologia , SíndromeRESUMO
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.