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1.
J Sleep Res ; 21(3): 281-8, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22004346

RESUMO

Behçet's disease, a systemic vasculitis, can cause varying degrees of activity limitation, fatigue and quality of life impairment. To date, there have been no studies regarding sleep disturbance and its relationship with fatigue and life quality in Behçet's disease. We aimed to evaluate sleep disorders and polysomnographic parameters, and to determine their relationship with fatigue and quality of life in Behçet's disease. Fifty-one patients with Behçet's disease without any neurological involvement were interviewed regarding sleep disorders. Twenty-one subjects with no sleep complaints were included as the control group. Sleep-related complaints were evaluated in a face-to-face interview. Sleep quality, excessive daytime sleepiness, fatigue, depression, anxiety, disease activity/severity, and quality of life questionnaires and an overnight polysomnography were performed. Prevalences of restless legs syndrome (35.3%) and obstructive sleep apnea syndrome with/without other sleep disorders (32.5%) were higher than in the control group and the general population. Fatigue was higher in patients with restless legs syndrome and obstructive sleep apnea syndrome, and in those with lower minimum oxygen saturation; hence, only patients with restless legs syndrome had quality of life impairment. Sleep efficiency index and sleep continuity index were lower, and wake after sleep onset, respiratory disturbance index and apnea-hypopnea index were higher than in controls (P < 0.01). Neither sleep disorders nor polysomnographic parameters were related to disease activity and severity. In conclusion, it is important to question sleep disorder followed by a polysomnography, if necessary, in order to improve quality of life and fatigue in Behçet's disease.


Assuntos
Síndrome de Behçet/complicações , Polissonografia/métodos , Síndrome das Pernas Inquietas/diagnóstico , Transtornos do Sono-Vigília/diagnóstico , Adulto , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/etiologia , Fadiga , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Qualidade de Vida , Síndrome das Pernas Inquietas/etiologia , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/etiologia , Transtornos do Sono-Vigília/etiologia , Inquéritos e Questionários
2.
J Neurol Sci ; 294(1-2): 38-42, 2010 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-20483145

RESUMO

PURPOSE: Multiple Sclerosis (MS) is a disease of the central nervous system characterized by multiple areas of inflammation and demyelination in the white matter of the brain and spinal cord. MEFV gene, which is the main factor in familial Mediterranean fever, is an intracellular regulator of inflammation. This study was designed to determine if known mutations in pyrin domain of MEFV gene are involved in MS and associated with MS morbidity. METHODS: Fifty-three patients with MS and 66 healthy subjects, who were all Turkish, were included in this study. Five pyrin gene mutations (E148Q, M680I, M694V, M694I and V726A) were detected in the patients and controls by using the PRONTO FMF Basic Kit according to the manufacturer's instructions. RESULTS: Pyrin gene mutations were found in 20 of the 53 MS patients (38%) and in seven of the 66 healthy subjects (11%). The frequency of total pyrin domain mutations was significantly higher in the MS patients than in the healthy subjects (p<0.0001). The frequencies of M694V, E148Q and V726A mutations were significantly higher in the patients than in the healthy subjects (p=0.02, p=0.013, p=0.004 respectively). The mean time to reach EDSS score 3.0 was earlier in the patients with MEFV gene mutation (p=0.02) and the relapse rate was slightly higher among the MS patients carrying MEFV gene mutation (p=0.04). CONCLUSION: The results of this study supported the hypothesis that MS patients with MEFV mutation seem to have the susceptibility to develop a more progressive disease. Moreover, these data suggest that MEFV mutations may increase the risk of MS development.


Assuntos
Proteínas do Citoesqueleto/genética , Esclerose Múltipla Crônica Progressiva/genética , Esclerose Múltipla Recidivante-Remitente/genética , Mutação , Adulto , Estudos de Casos e Controles , Análise Mutacional de DNA , Progressão da Doença , Feminino , Seguimentos , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Crônica Progressiva/patologia , Esclerose Múltipla Recidivante-Remitente/patologia , Mutação de Sentido Incorreto , Pirina , Recidiva , Índice de Gravidade de Doença , Turquia , Adulto Jovem
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