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1.
Hum Immunol ; 85(3): 110803, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38653667

RESUMO

Systemic lupus erythematosus (SLE) is an autoimmune disorder that impacts connective tissue and can affect various organs and systems within the body. One important aspect of this disease is the role of the human leukocyte antigen (HLA) system, a protein complex that plays a role in the immune response. Specifically, the HLA-DRB1 and HLA-DQB1 genes have been implicated in the development of SLE. In order to better understand this relationship in the Guatemalan population, a study was conducted with the objective of characterizing the allelic and haplotype profiles of the HLA-DQB1 and HLA-DRB1 loci in 50 patients diagnosed with SLE who were receiving treatment at a hospital in Guatemala. Allele and haplotype frequencies were determined and compared to 127 healthy Guatemalan subjects as a control group. The results of the analysis showed a reduction in the frequencies of HLA-DQB1*03 and HLA-DRB1*14 in SLE patients, which could suggest a protective effect on the development of the disease. In contrast, a risk association was found between HLA-DRB1*07, HLA-DRB1*08, HLA-DQB1*02 and HLA-DQB1*06 in SLE patients. Finally, we observed an additional protective associated of haplotype HLA-DRB1*04∼DQB1*03 with SLE patients, while haplotypes HLA-DRB1*07∼DQB1*02 and DRB1*08-DQB1*06 showed a risk association.


Assuntos
Frequência do Gene , Predisposição Genética para Doença , Cadeias beta de HLA-DQ , Cadeias HLA-DRB1 , Haplótipos , Lúpus Eritematoso Sistêmico , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Alelos , Estudos de Casos e Controles , Estudos de Associação Genética , Genótipo , Guatemala , Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/diagnóstico
2.
Ann Diagn Pathol ; 46: 151475, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32172215

RESUMO

Detailed descriptions of ovarian histology are rare. We reviewed in detail 57 cases of normal ovaries in premenopausal patients, when the ovaries are active and primordial follicles are found. We also proposed updated definitions to more clearly distinguish inclusion cysts, which do not have a known relationship with any disease process, from endosalpingiosis, a lesion closely associated with low grade serous neoplasia of the ovary. The most interesting findings were the significant variation in the histologic features including the variation in the amount and the distribution of primordial follicles, follicular cysts, and endosalpingiosis, within the ovary and between both ovaries in the same patient, the frequent presence of primordial follicles in the medulla, specifically in cases of multiple follicular cysts, and the frequent presence of endosalpingiosis. We believe that to confirm a pathologic process in the ovary, we need to become familiar with the histologic features of the normal ovary and their variations.


Assuntos
Ovário/anatomia & histologia , Adulto , Feminino , Humanos , Pré-Menopausa , Estudos Retrospectivos
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