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1.
Med. clín (Ed. impr.) ; 150(1): 26-32, ene. 2018. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-169657

RESUMO

La enfermedad mixta del tejido conectivo (EMTC) es una enfermedad reumática autoinmunitaria sistémica (ERAS) caracterizada por la asociación de manifestaciones clínicas de lupus eritematoso sistémico (LES), esclerosis sistémica cutánea (ESC) y polimiositis-dermatomiositis en presencia de títulos elevados de anticuerpos anti-U1-RNP en el suero de los pacientes. Sus principales síntomas son la poliartritis, el edema de manos, el fenómeno de Raynaud, la esclerodactilia, la miositis y la hipomotilidad esofágica. Actualmente, la mayoría de los autores acepta que la EMTC es una entidad independiente, pero algunos mantienen que estos pacientes podrían presentar una ERAS, definida en su fase precoz como LES o ESC, o ser, en realidad, un síndrome de solapamiento de la ERAS (AU)


Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD) characterised by the combination of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis, in the presence of elevated titers of anti-U1-RNP antibodies. Main symptoms of the disease are polyarthritis, hand oedema, Raynaud's phenomenon, sclerodactyly, myositis and oesophageal hypomobility. Although widely discussed, most authors today accept MCTD as an independent entity. Others, however, suggest that these patients may belong to subgroups or early stages of certain definite connective diseases, such as SLE or SSc, or are, in fact, SARD overlap syndromes (AU)


Assuntos
Humanos , Doença Mista do Tecido Conjuntivo/epidemiologia , Doença Mista do Tecido Conjuntivo/prevenção & controle , Ribonucleoproteína Nuclear Pequena U1/análise , Doença Mista do Tecido Conjuntivo/diagnóstico , Doença Mista do Tecido Conjuntivo/fisiopatologia , Artrite/complicações , Edema/complicações , Doença de Raynaud/complicações , Miosite/complicações
2.
Med Clin (Barc) ; 150(1): 26-32, 2018 Jan 12.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28864092

RESUMO

Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD) characterised by the combination of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis, in the presence of elevated titers of anti-U1-RNP antibodies. Main symptoms of the disease are polyarthritis, hand oedema, Raynaud's phenomenon, sclerodactyly, myositis and oesophageal hypomobility. Although widely discussed, most authors today accept MCTD as an independent entity. Others, however, suggest that these patients may belong to subgroups or early stages of certain definite connective diseases, such as SLE or SSc, or are, in fact, SARD overlap syndromes.


Assuntos
Doença Mista do Tecido Conjuntivo/diagnóstico , Diagnóstico Diferencial , Dissidências e Disputas , Humanos , Doença Mista do Tecido Conjuntivo/mortalidade , Doença Mista do Tecido Conjuntivo/terapia
4.
Genome Res ; 20(2): 170-9, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20028698

RESUMO

Monozygotic (MZ) twins are partially concordant for most complex diseases, including autoimmune disorders. Whereas phenotypic concordance can be used to study heritability, discordance suggests the role of non-genetic factors. In autoimmune diseases, environmentally driven epigenetic changes are thought to contribute to their etiology. Here we report the first high-throughput and candidate sequence analyses of DNA methylation to investigate discordance for autoimmune disease in twins. We used a cohort of MZ twins discordant for three diseases whose clinical signs often overlap: systemic lupus erythematosus (SLE), rheumatoid arthritis, and dermatomyositis. Only MZ twins discordant for SLE featured widespread changes in the DNA methylation status of a significant number of genes. Gene ontology analysis revealed enrichment in categories associated with immune function. Individual analysis confirmed the existence of DNA methylation and expression changes in genes relevant to SLE pathogenesis. These changes occurred in parallel with a global decrease in the 5-methylcytosine content that was concomitantly accompanied with changes in DNA methylation and expression levels of ribosomal RNA genes, although no changes in repetitive sequences were found. Our findings not only identify potentially relevant DNA methylation markers for the clinical characterization of SLE patients but also support the notion that epigenetic changes may be critical in the clinical manifestations of autoimmune disease.


Assuntos
Metilação de DNA , Doenças em Gêmeos/genética , Lúpus Eritematoso Sistêmico/genética , Gêmeos Monozigóticos/genética , 5-Metilcitosina/química , Artrite Reumatoide/genética , Doenças Autoimunes/genética , Estudos de Coortes , Ilhas de CpG/genética , Dermatomiosite/genética , Feminino , Genes de RNAr , Humanos , Masculino , Regiões Promotoras Genéticas , Análise de Sequência de DNA/métodos
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