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1.
J Laryngol Otol ; : 1-5, 2023 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-38057965

RESUMO

OBJECTIVE: This study analyses the incidence of subjectively experienced dysphagia and voice change in post-thyroidectomy and parathyroidectomy patients without recurrent laryngeal nerve palsy. METHODS: A total of 400 patients were invited to participate in a telephone questionnaire based on the Dysphagia Handicap Index and Voice Handicap Index. At 6-24 months following surgery, participants were divided into: post-thyroid surgery (total, hemi-, parathyroidectomy) groups and controls (other ENT procedures). A total of 254 responses were received (127 following thyroid surgery, 127 controls). RESULTS: Twenty-two per cent of post-thyroidectomy patients had a Voice Handicap Index score of more than 3, compared to 15 per cent of parathyroid patients and 4 per cent of controls. The mean Dysphagia Handicap Index score for patients post thyroidectomy and hemi-thyroidectomy was 2.0. Parathyroidectomy patients had a mean Dysphagia Handicap Index score of 1.3, higher than controls at 1.0. CONCLUSION: Dysphagia and voice alteration are common following thyroid surgery, even in the absence of recurrent laryngeal nerve injury. Both deficits occur more frequently following thyroid surgery than parathyroid surgery.

2.
Respir Med Case Rep ; 45: 101900, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37577122

RESUMO

The ball valve effect occurs when an obstructing lesion allows inspiration of air, but opposes the egression of exhaled air, causing gas trapping. The phenomenon is commonly described secondary to bronchial foreign body inhalation. However, it is less well reported in other disease processes. We report a unique case of a carcinoid tumour causing ball valving following diagnostic bronchoscopy in a young patient. The procedure caused swelling and oedema around an isolated carcinoid tumour in the left main bronchus. An inspiratory chest X-ray was normal, complicating the diagnosis. At repeat bronchoscopy the tumour was cored with LASER.

3.
Otol Neurotol ; 40(1): 22-30, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30540696

RESUMO

OBJECTIVE: To analyse the epidemiology of otosclerosis in a British cohort collected between 2011 and 2017. DESIGN: Retrospective cohort study. SETTING: Five UK ENT Departments. PATIENTS: Patients with surgically confirmed otosclerosis. MAIN OUTCOME MEASURES: Questionnaire data documented family history of otosclerosis, age of onset, medical history, and information on associated risk factors for 657 patients. Pre and post-surgical pure-tone audiometry was collected for 154 of these patients. RESULTS: The age of onset, incidence of bilateral disease, tinnitus and vertigo, a higher prevalence of women (65%) than men (35%) are similar to those reported previously for otosclerosis cohorts. No association with measles infection was detected. Patients with a family history (40%) have an earlier age of onset and a higher incidence of bilateral disease and vertigo than non-familial subjects. Pedigree analysis is consistent with an autosomal dominant inheritance with reduced penetrance being apparent in 44/91 pedigrees studied. Women who associate their hearing loss with pregnancy have an earlier age of onset than those that do not (p = 6 × 10). CONCLUSIONS: This study confirms that otosclerosis is an early adult onset disease that is more prevalent in women than men with a large minority of patients having a family history of otosclerosis. We report new evidence to support a relationship between pregnancy and otosclerosis progression in a proportion of women. In addition, this is the first study to identify differences in severity between familial and non-familial cases of otosclerosis, highlighting the possibility that more than one etiology may be involved.


Assuntos
Otosclerose/epidemiologia , Adolescente , Adulto , Idade de Início , Audiometria de Tons Puros , Criança , Progressão da Doença , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Otosclerose/cirurgia , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Inquéritos e Questionários , Reino Unido/epidemiologia , Adulto Jovem
4.
Hum Genet ; 137(5): 357-363, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29728750

RESUMO

Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes in which an association has been reported include BMP2, COL1A1, FGF2, PPP2R5B and TGFB1. However, follow up studies have often failed to replicate initial positive results. The aim of this study was to establish if an association exists between eight single nucleotide polymorphisms (SNPs) in these six previously implicated genes and otosclerosis in a British case-control cohort (n = 748). Evidence of an association between rs1800472 in TGFB1 and otosclerosis was found (p = 0.034), this association was strongest amongst non-familial cases (p = 0.011). No evidence of an association was detected with variants in COL1A1, FGF2, BMP2, and PPP2R5B. No association between variation in RELN and otosclerosis was observed in the whole cohort. However, a significant association (p = 0.0057) was detected between one RELN SNP (rs39399) and otosclerosis in familial patients. Additionally, we identify expression of one RELN transcript in 51 of 81 human stapes tested, clarifying previous conflicting data as to whether RELN is expressed in the affected tissue. Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis and support a relationship between RELN and familial otosclerosis only, which may explain previous variable replications.


Assuntos
Moléculas de Adesão Celular Neuronais/genética , Proteínas da Matriz Extracelular/genética , Estudos de Associação Genética , Proteínas do Tecido Nervoso/genética , Otosclerose/genética , Serina Endopeptidases/genética , Fator de Crescimento Transformador beta1/genética , Proteína Morfogenética Óssea 2/genética , Colágeno Tipo I/genética , Cadeia alfa 1 do Colágeno Tipo I , Feminino , Fator 2 de Crescimento de Fibroblastos/genética , Regulação da Expressão Gênica , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Proteínas de Membrana/genética , Otosclerose/fisiopatologia , Polimorfismo de Nucleotídeo Único/genética , Proteína Fosfatase 2/genética , Proteína Reelina , Reino Unido
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