RESUMO
The authors report the presence of high titer antibodies to glutamic acid decarboxylase (anti-GAD65) until age 24 months in two asymptomatic newborns of a woman with stiff-person syndrome (SPS). No signs of SPS were detectable in the two children at ages 6 and 8 years. This observation indicates that other cofactors are involved in the pathogenesis of SPS.
Assuntos
Autoantígenos/imunologia , Glutamato Descarboxilase/imunologia , Imunidade Materno-Adquirida , Isoanticorpos/sangue , Isoenzimas/imunologia , Complicações na Gravidez/imunologia , Rigidez Muscular Espasmódica/imunologia , Adulto , Especificidade de Anticorpos , Autoanticorpos/sangue , Autoanticorpos/imunologia , Feminino , Seguimentos , Humanos , Recém-Nascido , Isoanticorpos/imunologia , Gravidez , Fatores de TempoRESUMO
Peripheral neuropathy is frequently reported in mixed cryoglobulinemia. As a close relationship has been established between mixed cryoglobulinemia and hepatitis C virus (HCV), the clinical, neurophysiological, and serologic findings of five patients affected by neuropathy, cryoglobulinemia and HCV infection were investigated. HCV infection was ascertained by the presence in the serum of anti-HCV antibodies detected by enzyme-linked immunosorbent assay(ELISA), and of HCV RNA assessed by polymerase chain reaction (PCR). Initial symptoms included paresthesias and painful dysesthesias in the legs. Later on, the patients developed a mainly asymmetric axonal polyneuropathy or a multifocal neuropathy associated with signs of systemic vasculitis. In this case series we report the short-term prognosis, as well as the response to interferon (IFN) alpha and conventional treatment. The presence of HCV RNA supports the hypothesis that a persistent HCV infection might be involved in the pathogenesis of mixed cryoglobulinemia and cryoglobulinemia-associated disorders.
Assuntos
Crioglobulinemia/virologia , Hepacivirus/isolamento & purificação , Hepatite C/complicações , Polineuropatias/virologia , Adulto , Idoso , Anticorpos Antivirais/sangue , Antivirais/administração & dosagem , Crioglobulinemia/complicações , Eletromiografia , Feminino , Hepatite C/tratamento farmacológico , Hepatite C/imunologia , Humanos , Interferon-alfa/administração & dosagem , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Reação em Cadeia da Polimerase , Polineuropatias/diagnóstico , Polineuropatias/etiologia , RNA Viral/análiseRESUMO
INTRODUCTION: The well-established relationship between myasthenia gravis (MG) and HLA antigens varies among different ethnic groups. In Caucasians B8 and/or DR3 alleles have been found associated with young MG women without thymoma and with high titres of acetylcholine-receptor antibody (AChR Ab). An increased frequency of haplotype HLA-A3, B7 and/or DR2 has been observed in older MG patients with low AChR Ab levels. So far, there is no convincing evidence for an association between a specific haplotype HLA and ocular MG or MG with thymoma. MG subjects often show other concurrent autoimmune disorders suggesting a more general inherited predisposition to autoimmunity. We performed a community-based study to verify the HLA-A, B, C, DR and DQ profile on ethnically homogeneous MG patients and with the aim to estimate the frequency of concurrent autoimmune diseases and to compare HLA phenotypes to autoimmune status in different MG patients groups. METHODS: Forty-seven patients, living in the province of Ferrara, were followed-up in our neurologic department and typed for HLA Antigens. In addition a set of immunological laboratory tests was performed. RESULTS: We found a trend towards an increased B8 and DR3 frequencies in total affected population; an association between B8 allele and early onset of generalized MG sustained by thymic hyperplasia. The DR3 allele is statistically associated with the presence of additional autoimmune disorders. CONCLUSIONS: Our data support the hypothesis of a genetically-based heterogeneity of the disease and show an increased prevalence of associate autoimmune conditions in MG patients.
Assuntos
Doenças Autoimunes/genética , Heterogeneidade Genética , Antígenos HLA/genética , Miastenia Gravis/genética , Vigilância da População , Adulto , Idoso , Alelos , Autoanticorpos/genética , Autoanticorpos/imunologia , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/imunologia , Estudos Transversais , Feminino , Seguimentos , Frequência do Gene/genética , Genética Populacional , Antígenos HLA/imunologia , Antígeno HLA-B8/genética , Antígeno HLA-B8/imunologia , Antígeno HLA-DR3/genética , Antígeno HLA-DR3/imunologia , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/epidemiologia , Miastenia Gravis/imunologia , Fenótipo , Receptores Colinérgicos/genética , Receptores Colinérgicos/imunologia , Timoma/epidemiologia , Timoma/genética , Timoma/imunologia , Neoplasias do Timo/epidemiologia , Neoplasias do Timo/genética , Neoplasias do Timo/imunologiaRESUMO
The frequency of multiple sclerosis (MS) in Italy and in other areas of the world seems to have increased over time, suggesting that some environmental factors operate in its etiology. We performed a retrospective, community-based case-control study on MS in order to verify the etiologic role of selected environmental factors. We found an association between MS and higher educational level, employment in public administration, past history of allergies, and infection at an early age with measles, rubella and whooping cough. Our data seem to confirm that exogenous factors play a role in the etiology of MS although some confounding variables could have accounted for the associations.