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1.
J Sleep Res ; 30(5): e13296, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33813771

RESUMO

Narcolepsy type 1 (NT1) is a disorder with well-established markers and a suspected autoimmune aetiology. Conversely, the narcoleptic borderland (NBL) disorders, including narcolepsy type 2, idiopathic hypersomnia, insufficient sleep syndrome and hypersomnia associated with a psychiatric disorder, lack well-defined markers and remain controversial in terms of aetiology, diagnosis and management. The Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (SPHYNCS) is a comprehensive multicentre cohort study, which will investigate the clinical picture, pathophysiology and long-term course of NT1 and the NBL. The primary aim is to validate new and reappraise well-known markers for the characterization of the NBL, facilitating the diagnostic process. Seven Swiss sleep centres, belonging to the Swiss Narcolepsy Network (SNaNe), joined the study and will prospectively enrol over 500 patients with recent onset of excessive daytime sleepiness (EDS), hypersomnia or a suspected central disorder of hypersomnolence (CDH) during a 3-year recruitment phase. Healthy controls and patients with EDS due to severe sleep-disordered breathing, improving after therapy, will represent two control groups of over 50 patients each. Clinical and electrophysiological (polysomnography, multiple sleep latency test, maintenance of wakefulness test) information, and information on psychomotor vigilance and a sustained attention to response task, actigraphy and wearable devices (long-term monitoring), and responses to questionnaires will be collected at baseline and after 6, 12, 24 and 36 months. Potential disease markers will be searched for in blood, cerebrospinal fluid and stool. Analyses will include quantitative hypocretin measurements, proteomics/peptidomics, and immunological, genetic and microbiota studies. SPHYNCS will increase our understanding of CDH and the relationship between NT1 and the NBL. The identification of new disease markers is expected to lead to better and earlier diagnosis, better prognosis and personalized management of CDH.


Assuntos
Distúrbios do Sono por Sonolência Excessiva , Narcolepsia , Estudos de Coortes , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/etiologia , Distúrbios do Sono por Sonolência Excessiva/terapia , Humanos , Estudos Multicêntricos como Assunto , Narcolepsia/diagnóstico , Narcolepsia/terapia , Estudos Observacionais como Assunto , Estudos Prospectivos , Suíça
2.
J Neurol ; 266(12): 3076-3086, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31531764

RESUMO

OBJECTIVE: We aimed to determine the incidence of all vestibular symptoms in a large interdisciplinary tertiary emergency department (ED) and to assess stroke prevalence, and frequency of other life-threatening aetiologies. METHODS: In this 1-year retrospective study, we manually screened all medical records of 23,608 ED visits for descriptions of vestibular symptoms. Symptoms were classified according to the International Classification of Vestibular Disorders of the Bárány Society. We evaluated all patients older than 16 years in whom vestibular symptoms were the main or accompanying complaint. We extracted clinical, radiological, and laboratory findings as well as aetiologies from medical records. RESULTS: We identified a total of 2596 visits by 2464 patients (11% of ED visits) who reported at least one vestibular symptom. In 1677/2596 visits (64.6%), vestibular symptoms were the main reason for the ED consultation. Vestibular symptoms were classified as dizziness (43.8%), vertigo (33.9%), postural symptoms (6.5%), or more than one symptom (15.8%). In 324/2596 visits (12.5%), cerebrovascular events were the aetiology of vestibular symptoms, and in 355/2596 visits (13.7%), no diagnosis could be established. In 23.8% of visits with vestibular symptoms as the main complaint, the underlying condition was life-threatening. CONCLUSION: Frequency and impact of vestibular symptoms in patients visiting the ED were higher than previously reported, and life-threatening aetiologies such as strokes are common. Therefore, awareness among physicians regarding the importance of vestibular symptoms has to be improved.


Assuntos
Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/epidemiologia , Tontura/epidemiologia , Tontura/etiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Doenças Vestibulares/epidemiologia , Doenças Vestibulares/etiologia , Adulto , Idoso , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologia , Vertigem/epidemiologia , Vertigem/etiologia
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