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Arq. neuropsiquiatr ; 67(3a): 643-651, Sept. 2009. ilus, graf, tab
Artigo em Inglês | LILACS | ID: lil-523613


We evaluated the frequency, demographic, clinical, disability evolution and genetic association of HLA DRB1*1501, DRB1*1503, DQA1*0102, DQB1*0602 and DPA1*0301 alleles in patients diagnosed as acute disseminated encephalomyelitis (ADEM) among a population of CNS demyelinating diseases. Fifteen patients (8.4 percent) of our series were diagnosed as ADEM. The mean age onset was 35.23 years (range 12 to 77), 53.3 percent were male and follow-up range was 8.5 to 16 years. Two cases (13.3 percent) had a preceding infection before neurological symptoms, one presented a parainfectious demyelinating, and one case had been submitted to hepatitis B vaccination four weeks before the clinical onset. The EDSS range was 3.0 to 9.5. Eight patients (53.3 percent) presented MRI with multiple large lesions. CSF was normal in 73.3 percent. The severe disability observed at EDSS onset improved in 86.66 percent patients. The genetic susceptibility for ADEM was significantly associated with the HLA DQB1*0602, DRB1*1501 and DRB1*1503 alleles (<0.05) in monophasic ADEM.

Avaliamos as frequencia, características demográficas, clínicas e de associação genética dos alelos HLA DRB1*1501, DRB1*1503, DQA1*0102, DQB1*0602 e DPA1*0301 em pacientes com diagnóstico de encefalomielite aguda disseminada (ADEM) em população com doença desmielinizante do SNC. Quinze (8,4 por cento) pacientes de nossa série foram diagnosticados como ADEM. A média de idade foi 35,23 anos (variando entre 12 e 77), 53,3 por cento eram homens e o tempo de acompanhamento variou entre 8,5 e 16 anos. Dois casos (13,3 por cento) apresentaram infecção prévia, um apresentou processo desmielinizante para infeccioso e outro havia se submetido a vacinação para hepatite B quatro semanas antes. O EDSS variou entre 3,0 e 9,5. Oito pacientes (53,3 por cento) apresentaram grandes lesões na RM. O LCR foi normal em 73,3 por cento. A incapacidade grave quantificada pelo EDSS foi seguida de melhora importante em 86,6 por cento dos pacientes. A susceptibilidade genética na ADEM foi significativamente associada com os alelos HLA DQB1*0602, DRB1*1501 e DRB1*1503 (p<0,05) nos pacientes com quadro monofásico.

Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Encefalomielite Aguda Disseminada/genética , Frequência do Gene/genética , Antígenos HLA-DP/genética , Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Estudos de Casos e Controles , Encefalomielite Aguda Disseminada/patologia , Genótipo , Imagem por Ressonância Magnética , Reação em Cadeia da Polimerase , Índice de Gravidade de Doença , Adulto Jovem
Rev. méd. Chile ; 122(12): 1413-20, dic. 1994. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-144181


The propensity of an individual to develop type I (insulin dependent) diabetes mellitus is directly related to specipic HLA clase II proteins, specially those from DR and DQ regions. Genetic susceptibility to insulin dependent diabetes arises from a preestablished conformation of alpha and ß chains of DQ and ß chain of DR. Since the classic demonstration by McDevitt and colleagues that DQ ß chain aspartate at position 57 was protective against the development of the disease, many populations have been surveyed to study the association between the incidence Type I diabetes and determined frequencies of DR and DQ haplotypes. The assocation between these markers and susceptibility to Type I diabetes is well established in caucasians at the present time. However, little information is available for Latin American populations, that share a mixture of european, african and native genes. Our group is studying genetic markers of three Latin American populations (Argentina, Perú and Chile) and their possible association to the different incidence of Type I diabetes mellitus in each country

Humanos , Antígenos HLA-DP/isolamento & purificação , Antígenos HLA-DQ/isolamento & purificação , Antígenos HLA-DR/isolamento & purificação , Diabetes Mellitus Tipo 1/genética , Complexo Principal de Histocompatibilidade/genética , Antígenos de Histocompatibilidade Classe II/genética , Estudos de Casos e Controles , Suscetibilidade a Doenças/genética , Haplótipos/genética , Marcadores Genéticos/genética
Mem. Inst. Oswaldo Cruz ; 85(2): 203-9, abr.-jun. 1990. ilus
Artigo em Inglês | LILACS | ID: lil-90856


Epidermal changes from 32 cutaneous and 3 mucosal American leishmaniasis (ACL) active lesions were studied for HLA-DR, -DP expression, Lanerhans cells and lymphocyte infiltration. In addition to a DR and DQ positivity at the surface of the cells of the inflammatory infiltrate, a strong reaction for DR antigens was detected on keratinocytes. Hyperplasia of Langerhans cells was present in al cutaneous lesions and epidermis was infiltrated by T lymphocytes. When healed lesions of 14 of these subjects were re-biopsied 1 to 12 months after the end of pentavalent antimonial therapy, MHC class antigens could no longer be seen on keratinocytes. Our data represrn evidence for hhe reversibility of the abnormal HLA-DR expression by keratinocytes in ACL after Glucantime therapy or spontaneous scar formation, demonstrating that this expresion is restricted to the period of active lesions. The present findings can be regarded as an indirect evidence that keratinocytes may be involved in the immunopathology of ACL

Humanos , Antígenos HLA-DP/análise , Antígenos HLA-DQ/análise , Antígenos HLA-DR/análise , Queratinócitos/imunologia , Leishmaniose/imunologia , Brasil , Antígenos HLA-DQ , Leishmaniose/patologia
Braz. j. med. biol. res ; 22(7): 859-67, 1989. ilus, tab
Artigo em Inglês | LILACS | ID: lil-83204


The HLA-D region of the major histocompatibility complex has several subregions, the most important of which are DR, DQ and DP. The genes coding for the beta chains of these proteins present most of the polymorphisms which result in the large variety of class II antigens observed. We have studied the restriction fragment length polymorphism (RFLP) of the DQ beta and DP beta genes in order to establish accurate typing patterns. The data show that DQ typing based on RFLP permits the identification of the recently described DQw1 splits (new antigenic specificities), DQw5 and DQw6. The TA 10-monoclonal antibody-positive split of DQw3, designated DQw7, is associated with specific DNA fragments after digestion with four different enzymes: Taq I, Hind III, Pvu II and Bg1 II. Furthermore, the recently reported specificity DQw4 (formerly typed as a blank) is associated with a specific 2.4-kb fragment when the DNA is digested with EcoRV. DP typing proved to be more difficult even though six enzymes were used, and only broad groups could be identified

Antígenos HLA-DP/genética , Antígenos HLA-DQ/genética , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Southern Blotting , DNA/análise , Epitopos , Peso Molecular