RESUMO
Myelitis and optic neuritis are prototypic clinical presentations of both multiple sclerosis and neuromyelitis optica. Once considered a subtype of multiple sclerosis, neuromyelitis optica, is now known to have a discrete pathogenesis in which antibodies to the water channel, aquaporin 4, play a critical role. Timely differentiation of neuromyelitis optica from MS is imperative, determining both prognosis and treatment strategy. Early, aggressive immunosuppression is required to prevent the accrual of severe disability in neuromyelitis optica; conversely, MS-specific therapies may exacerbate the disease. The diagnosis of neuromyelitis optica requires the integration of clinical, MR imaging, and laboratory data, but current criteria are insensitive and exclude patients with limited clinical syndromes. Failure to recognize the expanding spectrum of cerebral MR imaging patterns associated with aquaporin 4 antibody seropositivity adds to diagnostic uncertainty in some patients. We present the state of the art in conventional and nonconventional MR imaging in neuromyelitis optica and review the place of neuroimaging in the diagnosis, management, and research of the condition.
Assuntos
Neuroimagem/métodos , Neuromielite Óptica/diagnóstico , Humanos , Neuroimagem/tendênciasRESUMO
Eight patients with paraneoplastic cerebellar degeneration (PCD) and anti-Yo antibodies were investigated to determine whether there is any association between cytotoxic T lymphocyte (CTL) responses reactive with two previously defined Yo-derived, HLA-A2.1 restricted epitopes (cdr2-1 and cdr2-2) and the presence of tumour-infiltrating CD8+ CTLs. cdr2-1 and cdr2-2-specific CTL responses could not be detected in 5 HLA-A2.1(+) patients in an ex vivo interferon-gamma ELISPOT assay and only 2/9 tumour sections contained CD8(+) intratumoural lymphocytes suggesting a very limited role for CTL-mediated tumour immunity in this patient group, all of whom had evidence of widespread malignancy at the time of diagnosis and/or death.
Assuntos
Anticorpos Antineoplásicos/sangue , Proteínas de Ligação a DNA/imunologia , Interferon gama/análise , Proteínas de Neoplasias/imunologia , Degeneração Paraneoplásica Cerebelar/imunologia , Linfócitos T Citotóxicos/imunologia , Neoplasias da Mama/imunologia , Neoplasias Cerebelares/imunologia , Testes Imunológicos de Citotoxicidade , Ensaio de Imunoadsorção Enzimática/métodos , Epitopos de Linfócito T/imunologia , Feminino , Antígeno HLA-A2/imunologia , Humanos , Imuno-Histoquímica , Interferon gama/metabolismo , Contagem de Linfócitos , Linfócitos do Interstício Tumoral/química , Linfócitos do Interstício Tumoral/imunologia , Linfócitos do Interstício Tumoral/patologia , Proteínas do Tecido Nervoso/imunologia , Neoplasias Ovarianas/imunologia , Degeneração Paraneoplásica Cerebelar/diagnóstico , Degeneração Paraneoplásica Cerebelar/patologia , Isoformas de Proteínas/imunologia , Coloração e Rotulagem , Linfócitos T Citotóxicos/patologiaRESUMO
The authors recruited 19 nonambulant patients with Guillain-Barré syndrome into a pilot, double-blind, randomized, placebo-controlled safety trial of interferon beta 1a (IFN[beta]-1a) (Rebif). Participants received IFN[beta]-1a or placebo subcutaneously three times weekly, 22 microg for the first week and then 44 microg for up to 24 weeks, in addition to IV immunoglobulin (IVIg). IFN[beta] did not have any unexpected interaction with IVIg and there was no significant difference in rate of improvement.
Assuntos
Síndrome de Guillain-Barré/tratamento farmacológico , Interferon beta/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Citocinas/sangue , Avaliação da Deficiência , Relação Dose-Resposta a Droga , Fadiga/induzido quimicamente , Feminino , Síndrome de Guillain-Barré/imunologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Interferon beta-1a , Interferon beta/efeitos adversos , Linfopenia/induzido quimicamente , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Proteínas Recombinantes/efeitos adversos , Resultado do TratamentoAssuntos
Antígenos de Neoplasias , Tronco Encefálico/imunologia , Recidiva Local de Neoplasia/complicações , Proteínas do Tecido Nervoso/imunologia , Transtornos da Motilidade Ocular/imunologia , Síndromes Paraneoplásicas do Sistema Nervoso/imunologia , Proteínas de Ligação a RNA/imunologia , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Tronco Encefálico/patologia , Tronco Encefálico/fisiopatologia , Carcinoma de Células de Transição/tratamento farmacológico , Carcinoma de Células de Transição/secundário , Feminino , Humanos , Neoplasias Renais/patologia , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/tratamento farmacológico , Proteínas do Tecido Nervoso/sangue , Antígeno Neuro-Oncológico Ventral , Transtornos da Motilidade Ocular/sangue , Transtornos da Motilidade Ocular/fisiopatologia , Síndromes Paraneoplásicas do Sistema Nervoso/sangue , Síndromes Paraneoplásicas do Sistema Nervoso/fisiopatologia , Proteínas de Ligação a RNA/sangue , Neoplasias Retroperitoneais/tratamento farmacológico , Neoplasias Retroperitoneais/secundário , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness. It is proposed that manifesting heterozygote females with XLMTM have a skewed pattern of X-chromosome inactivation. However, skewed X-chromosome inactivation was not detected in either the lymphocyte or muscle DNA of a woman who presented with limb girdle/facial weakness and was found to be heterozygous for the R224X mutation.
Assuntos
Triagem de Portadores Genéticos , Ligação Genética/genética , Debilidade Muscular/genética , Miopatias Congênitas Estruturais/genética , Proteínas Tirosina Fosfatases/genética , Cromossomo X/genética , Adulto , Mecanismo Genético de Compensação de Dose , Extremidades/patologia , Face/patologia , Feminino , Humanos , Lactente , Masculino , Debilidade Muscular/patologia , Músculo Esquelético/patologia , Mutação/genética , Miopatias Congênitas Estruturais/patologia , Linhagem , Proteínas Tirosina Fosfatases não ReceptorasRESUMO
Serum antibodies to the Yo antigen are usually associated with paraneoplastic cerebellar degeneration arising in female patients with gynecological or breast malignancy and are rarely associated with other tumors. We report a male patient who presented with paraneoplastic cerebellar degeneration and anti-Yo antibodies following removal of an esophageal adenocarcinoma. This is only the third report of anti-Yo antibodies occurring in a male patient. The Yo antigen was expressed by the esophageal tumor but not in a frontal lobe cerebral metastasis identified at postmortem. Interestingly, CD8+ T-cell infiltration was also found in the tumor, but not in the metastasis, consistent with down-regulation of Yo expression by the tumor cells leading to evasion from immune-mediated tumor surveillance.
