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1.
Eur Arch Otorhinolaryngol ; 280(2): 829-837, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36056169

RESUMO

BACKGROUND: Surgical resection or radiotherapy (RT) are standard approaches for early-staged hypopharyngeal squamous cell carcinoma (HPSCC). Transoral laser microsurgery (TOLMS) seems to provide good oncological and functional results with few local complications. The aim of our study was to analyze the outcomes of TOLMS, with or without neck dissection or RT, in the treatment of HPSCC in a tertiary referral center. METHODS: A retrospective study was conducted in patients with early T-category (T1-T2) HPSCC treated by TOLMS. RESULTS: A total of 34 patients were included in the study. The series includes 17 (50%) T1 and 17 (50%) T2 classified tumors. The 5-year overall survival and disease-specific survival rates were 51% and 66%, respectively, with a 5-year local control rate of 92%. All patients reassumed oral diet and none of them had a tracheostomy at the end of the follow-up. CONCLUSIONS: TOLMS offers an effective treatment option in terms of oncologic control and function preservation in locally circumscribed HPSCC.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Hipofaríngeas , Neoplasias Laríngeas , Terapia a Laser , Humanos , Carcinoma de Células Escamosas/patologia , Estudos Retrospectivos , Microcirurgia/métodos , Neoplasias Hipofaríngeas/patologia , Resultado do Tratamento , Terapia a Laser/métodos , Carcinoma de Células Escamosas de Cabeça e Pescoço/cirurgia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/patologia , Estadiamento de Neoplasias , Neoplasias Laríngeas/cirurgia
2.
Otolaryngol Head Neck Surg ; 166(1): 74-79, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33940977

RESUMO

OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study describes clinical and genetic features of our patients with clinical suspicion of the syndrome. STUDY DESIGN: A retrospective descriptive study from an ataxia database comprising 500 patients. SETTING: The study was performed at the Otorhinolaryngology Department of a hospital in the north of Spain. METHODS: Specific genetic testing for CANVAS was performed in 13 patients with clinical suspicion of complete or incomplete syndrome. The clinical diagnosis was supported by quantitative vestibular hypofunction, cerebellar atrophy, and abnormal sensory nerve conduction testing. RESULTS: Nine of 13 (69%) patients met clinical diagnostic criteria for definite CANVAS disease. The first manifestation of the syndrome was lower limb dysesthesia in 8 of 13 patients and gait imbalance in 5 of 13. Eleven of 13 (85%) patients were carriers of the biallelic (AAGGG)exp in RFC1. CONCLUSION: A genetic cause of CANVAS has recently been discovered. We propose genetic screening for biallelic expansions of the AAGGG pentamer of RFC1 in all patients with clinical suspicion of CANVAS, since accurate early diagnosis could improve the quality of life of these patients.


Assuntos
Vestibulopatia Bilateral/diagnóstico , Vestibulopatia Bilateral/genética , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/genética , Expansão das Repetições de DNA/genética , Proteína de Replicação C/genética , Idoso , Bases de Dados Factuais , Diagnóstico Diferencial , Feminino , Testes Genéticos , Humanos , Íntrons/genética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha , Avaliação de Sintomas , Síndrome
3.
Eur Arch Otorhinolaryngol ; 278(12): 4997-5001, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33713193

RESUMO

BACKGROUND: Minimally invasive video-assisted parathyroidectomy (MIVAP) has become a standard approach to primary hyperparathyroidism (pHPT) since described. Although intraoperative parathyroid hormone assay (IOPTH) has been generalized as a complementary technique to MIVAP, its actual impact on the surgical success of this technique is not without controversy. The aim of this study was to describe our results in the management of pHPT with successful preoperative localization, by MIVAP technique, without IOPTH determination, confirming in a larger series our preliminary results. METHODS: A retrospective descriptive study was conducted in pHPT patients treated by MIVAP with no IOPTH determination in a tertiary hospital between 2007 and 2019. RESULTS: A total of 167 patients were included in the study. Biochemical cure was achieved in 96.4%, and 94.1% did not present any surgical complication. The mean duration of surgery was 61 min, and the mean length of hospital stay was 1.8 days CONCLUSIONS: In case of positive preoperative localization studies, MIVAP is a safe and effective technique for the surgical treatment of pHPT due to a parathyroid adenoma, regardless of IOPTH determination, with a success rate > 95% and a low complication rate.


Assuntos
Hiperparatireoidismo Primário , Paratireoidectomia , Humanos , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos , Hormônio Paratireóideo , Estudos Retrospectivos , Cirurgia Vídeoassistida
4.
Eur Arch Otorhinolaryngol ; 278(7): 2585-2592, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33433750

RESUMO

PURPOSE: The aim of this study was to determine the prevalence of dysphagia in patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), characterizing this condition, both in its objective dimension and in terms of quality of life (QoL). METHODS: A cross-sectional study was developed in 11 patients diagnosed of CANVAS. In all patients, clinical records were reviewed and the Eating assessment tool 10 (EAT-10) was performed as screening of oropharyngeal dysphagia. To evaluate the QoL impairment secondary to dysphagia, we applied the swallowing quality of life questionnaire (SWAL-QOL) and the MD Anderson Dysphagia Inventory (MDADI). To evaluate the deglutition mechanisms impaired, two objective-instrumental studies were performed: the volume-viscosity swallow test (V-VST) and the fiberoptic endoscopic evaluation of swallowing (FEES). RESULTS: 82% of the patients presented an abnormal EAT-10 score. A correlation was found between the EAT-10 and MDADI and between both QoL questionnaires. After the FEES and V-VST analysis, all 11 patients presented some degree of swallow effectiveness impairment, and most of them safety alterations as well. CONCLUSION: CANVAS remains an underestimated and underdiagnosed condition and the prevalence of swallowing disorders in those patients is higher than expected. Despite the possibility that EAT-10 works as a useful screening test to predict the results in the QoL questionnaires, the absence of correlation between QoL test and instrumental results suggests that to properly evaluate the patients swallowing status, objective instrumental procedures must be conducted.


Assuntos
Vestibulopatia Bilateral , Ataxia Cerebelar , Transtornos de Deglutição , Ataxia Cerebelar/complicações , Ataxia Cerebelar/epidemiologia , Estudos Transversais , Deglutição , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Humanos , Qualidade de Vida , Inquéritos e Questionários
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