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1.
Eur Arch Otorhinolaryngol ; 277(12): 3341-3348, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32666295

RESUMEN

PURPOSE: In-office rhinologic procedures have become popularised in the last decade, especially in North America. Endoscopic nasal polypectomy under local anaesthesia offers instant relief in selected patients with obstructive chronic rhinosinusitis with nasal polyps. We aimed to analyse patient tolerability during the procedure while measuring its effectiveness. METHODS: A prospective study of patients who underwent in-office microdebrider-assisted polypectomy under local anaesthetic from September 2018 to November 2019 in a Spanish tertiary hospital was performed. The tolerability was measured by monitoring vital signs during the procedure and using a visual analogue scale posteriorly. The effectiveness was calculated through patient-reported outcomes (SNOT-22) and endoscopic evaluation 1 and 6 months follow-up. RESULTS: Forty-four patients were included, with a mean age of 60.7 years. The mean visual analogue scale score was 2.76 out of 10 points. Vital signs were steady overall, with a statistically significant reduction (p < 0.001) in systolic pressure during the procedure. Presyncope and epistaxis were among the few mild complications. However, we registered one major complication that required intensive care admission. There was a 64% reduction in the SNOT-22 score in the first month, with a maintained effect after 6 months. Patients with asthma and a higher polyp load were the subgroups that required more time to achieve significant improvement. CONCLUSIONS: In-office polypectomy is a very effective technique that alleviates obstructive symptoms in patients with nasal polyposis, and it is generally safe and well tolerated when performed by an expert. However, rhinologists must be aware of potentially severe complications.


Asunto(s)
Endoscopía , Pólipos Nasales , Procedimientos Quírurgicos Nasales , Rinitis , Sinusitis , Enfermedad Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pólipos Nasales/cirugía , Estudios Prospectivos , Rinitis/cirugía , Sinusitis/cirugía , Resultado del Tratamiento
3.
Otol Neurotol ; 43(10): 1125-1136, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36190904

RESUMEN

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.


Asunto(s)
Catarata , Sordera , Pérdida Auditiva Sensorineural , Pérdida Auditiva , Adulto , Humanos , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Sordera/complicaciones , Secuenciación de Nucleótidos de Alto Rendimiento , Pérdida Auditiva/complicaciones , Mutación , Transactivadores , Péptidos y Proteínas de Señalización Intercelular/genética , Monoacilglicerol Lipasas/genética
4.
Artículo en Inglés | MEDLINE | ID: mdl-34844678

RESUMEN

BACKGROUND AND OBJECTIVE: Hypertrophic pachymeningitis is an infrequent inflammatory disease resulting in thickening and fibrosis of the dura mater. In most cases, the cause in unknown and is called idiopathic hypertrophic pachymeningitis (IHP). Audiovestibular symptoms are infrequent and the pathogenesis is still unclear. MATERIALS AND METHODS: A systematic literature review of cases with IHP and vestibular symptoms from 2000 to February 2020 was performed. PRISMA Checklist was followed and PubMED database, Web of Science and Cochrane library were searched. We report a case of an adolescent with a diagnosis of vestibular neuritis in the context of IHP attended in our clinic. RESULTS: We reviewed 5 articles related to IHP and vestibular disorders. A total of 7 cases (5 women and 2 men), with ages between 27 and 68 years with IHP were found. They all had audiovestibular symptoms. In contrast to our patient, uni or bilateral neurosensorial hearing loss was reported in all cases. Furthermore, there is no other case report published describing the association between IHP and vestibular neuritis. High dose steroids improved symptoms in 85.7% of the patients. CONCLUSION: Vestibular symptoms in IHP are uncommon and the pathogenesis is still debatable. Entrapment of nerves in the internal auditory canal and secondary neuronal damage could be suspected as the main cause of hearing and vestibular loss.


Asunto(s)
Meningitis , Adolescente , Adulto , Anciano , Duramadre , Femenino , Humanos , Hipertrofia , Masculino , Meningitis/diagnóstico , Persona de Mediana Edad
5.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33648724

RESUMEN

BACKGROUND AND OBJECTIVE: Hypertrophic pachymeningitis is an infrequent inflammatory disease resulting in thickening and fibrosis of the dura mater. In most cases, the cause in unknown and is called idiopathic hypertrophic pachymeningitis (IHP). Audiovestibular symptoms are infrequent and the pathogenesis is still unclear. MATERIALS AND METHODS: A systematic literature review of cases with IHP and vestibular symptoms from 2000 to February 2020 was performed. PRISMA Checklist was followed and PubMED database, Web of Science and Cochrane library were searched. We report a case of an adolescent with a diagnosis of vestibular neuritis in the context of IHP attended in our clinic. RESULTS: We reviewed 5 articles related to IHP and vestibular disorders. A total of 7 cases (5 women and 2 men), with ages between 27 and 68 years with IHP were found. They all had audiovestibular symptoms. In contrast to our patient, uni or bilateral neurosensorial hearing loss was reported in all cases. Furthermore, there is no other case report published describing the association between IHP and vestibular neuritis. High dose steroids improved symptoms in 85.7% of the patients. CONCLUSION: Vestibular symptoms in IHP are uncommon and the pathogenesis is still debatable. Entrapment of nerves in the internal auditory canal and secondary neuronal damage could be suspected as the main cause of hearing and vestibular loss.

6.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32434677

RESUMEN

INTRODUCTION: Liver transplantation is the only alternative treatment in patients in end-stage liver function. In many cases the need for liver transplantation is a consequence of the toxic effects of alcohol. The aim of our study was to determine if patients who are candidates for a liver transplant require a systematic exploration of the head and neck to rule out malignant lesions in this area. PATIENTS AND METHODS: All the candidates for a liver transplant, between 2011 and 2017, were included in our study. All of them underwent a systematic exploration of the head and neck by an otolaryngologist to rule out malignancy of the head and neck. RESULTS: A total of 141 patients were included in our study. In 2 of them (1.3%) a carcinoma of the head and neck was detected (one of the oropharynx and the other of the larynx). Both patients were asymptomatic from an ENT point of view. They were treated with chemoradiotherapy. One of them died during follow-up due to the appearance of a metachronous lung tumour. The other is free of disease 2 years after diagnosis but without having been transplanted. Both patients had a history of smoking and high alcohol intake. CONCLUSIONS: In patients who are candidates for a liver transplant who have a history of smoking and / or high alcohol intake, a pretransplant head and neck study including pharyngo-laryngeal fibroscopy is indicated.


Asunto(s)
Detección Precoz del Cáncer , Enfermedad Hepática en Estado Terminal/complicaciones , Neoplasias de Cabeza y Cuello/complicaciones , Neoplasias de Cabeza y Cuello/diagnóstico , Trasplante de Hígado , Enfermedad Hepática en Estado Terminal/cirugía , Estudios Epidemiológicos , Humanos , Masculino , Persona de Mediana Edad , Periodo Preoperatorio , Estudios Retrospectivos
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