RESUMO
Recurrent episodes of neurological dysfunction and white matter lesions in a young adult raise suspicion for multiple sclerosis (MS). However, occlusive retinopathy, hearing loss and absence of CSF oligoclonal bands are atypical for MS and should make the clinician consider an alternative diagnosis. We describe a man with hearing loss, visual signs and symptoms, and an accumulating burden of brain lesions, who was treated for a clinical diagnosis of MS for nearly two decades. Genetic testing revealed a unifying diagnosis.
Assuntos
Sequenciamento do Exoma , Perda Auditiva Unilateral/etiologia , Doença da Hemoglobina SC/diagnóstico , Hemoglobinas Anormais/genética , Leucoencefalopatias/etiologia , Esclerose Múltipla/diagnóstico , Transtornos da Visão/etiologia , Erros de Diagnóstico , Predisposição Genética para Doença , Perda Auditiva Unilateral/diagnóstico , Perda Auditiva Unilateral/fisiopatologia , Doença da Hemoglobina SC/complicações , Doença da Hemoglobina SC/genética , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Esclerose Múltipla/complicações , Esclerose Múltipla/tratamento farmacológico , Fenótipo , Valor Preditivo dos Testes , Transtornos da Visão/diagnóstico , Transtornos da Visão/fisiopatologia , Adulto JovemRESUMO
Neuromyelitis optica spectrum disorder (NMOSD) is a rare, relapsing-remitting neuroinflammatory disorder of the central nervous system. Advances in the understanding of NMOSD pathogenesis and identification of the NMO-specific pathogenic anti-AQP4 autoantibody have led to the development of highly effective disease-modifying strategies. Five placebo-controlled, randomized trials for NMOSD have been successfully completed as of 2020. These trials support the efficacy of rituximab and tocilizumab and led to the FDA approval of eculizumab, satralizumab and inebilizumab for NMOSD. Our review provides an update on these evidence-based disease-modifying therapies and discussed the treatment of acute relapses in NMOSD.
Assuntos
Fatores Imunológicos/uso terapêutico , Neuromielite Óptica/tratamento farmacológico , Anticorpos Monoclonais Humanizados/uso terapêutico , Humanos , Rituximab/uso terapêuticoAssuntos
Doenças Desmielinizantes/diagnóstico , Lúpus Eritematoso Sistêmico/diagnóstico , Neuromielite Óptica/diagnóstico , Doenças Desmielinizantes/complicações , Doenças Desmielinizantes/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico por imagem , Pessoa de Meia-Idade , Neuromielite Óptica/complicações , Neuromielite Óptica/diagnóstico por imagemRESUMO
OBJECTIVE: We performed a pooled analysis to examine cigarette smoking and household passive smoke exposure in relation to the risk of human papillomavirus (HPV) infection and cervical intraepithelial neoplasia grade 2+ (CIN2+). METHODS: Data were pooled from 12 cross-sectional studies for cervical cancer screenings from 10 provinces of China in 1999-2007. A total of 16,422 women were analyzed, along with 2,392 high-risk-HPV (hr-HPV) positive women and 381 CIN2+ cases. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression models controlling for sexual and non-sexual confounding factors. RESULTS: There was an excess risk between active smoking and hr-HPV infection and CIN2+. Adjusted OR for ever smokers vs. never smokers was 1.45 (95% CI=1.10-1.91), for hr-HPV infection and 1.89 (95% CI=1.03-3.44), for CIN2+. Passive smoking had a slightly increased risk on the hr-HPV infection with adjusted OR 1.11 (1.00-1.24), but no statistical association was observed between passive smoke exposure and CIN2+. Compared with the neither active nor passive smokers, both active and passive smokers had a 1.57-fold (95% CI=1.14-2.15) increased risk of HPV infection and a 1.99-fold (95% CI=1.02-3.88) risk of CIN2+. CONCLUSION: Our large multi-center cross-sectional study found active smoking could increase the risk of overall hr-HPV infection and CIN2+ adjusted by passive smoking and other factors. Passive smoking mildly increased the risk of HPV infection but not the CIN2+. An interaction existed between passive tobacco exposure and active smoking for hr-HPV infection and the CIN2+.