RESUMO
BACKGROUND: Scleroderma can present with esophageal involvement causing important morbidity. AIMS: To describe the manometric findings and clinical characteristics of patients with scleroderma and esophageal symptoms. MATERIALS AND METHODS: Patients with scleroderma and esophageal symptoms were evaluated through esophageal manometry within the time frame of one year. Descriptive statistics were carried out and the continuous variables were expressed as means and standard deviation. Frequencies were expressed as percentages. RESULTS: The study included 24 female patients with a mean age of 53.5 years and mean disease progression of 7.84 years. The most frequent findings were short and hypotonic lower esophageal sphincter (mean length 1.58cm and mean tone 9.49mmHg) and ineffective esophageal motility (mean non-transmitted waves 92.91%, mean effective primary peristalsis 40.05%, and mean amplitude 13.11mmHg). The most frequent symptom was dysphagia. CONCLUSIONS: Scleroderma is associated with lower esophageal sphincter alterations and symptomatic ineffective esophageal motility.
Assuntos
Transtornos da Motilidade Esofágica/complicações , Escleroderma Sistêmico/complicações , Adolescente , Adulto , Idoso , Progressão da Doença , Transtornos da Motilidade Esofágica/diagnóstico , Transtornos da Motilidade Esofágica/fisiopatologia , Esfíncter Esofágico Inferior/fisiopatologia , Feminino , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Escleroderma Sistêmico/diagnóstico , Escleroderma Sistêmico/fisiopatologia , Adulto JovemRESUMO
Rheumatoid arthritis (RA) is a multifactorial disease. A combination of genetic and environmental risk factors contributes to its etiology. Several genes have been reported to be associated with susceptibility to the development of RA. The MHC2TA and FCRL3 genes have been associated previously with RA in Swedish and Japanese populations, respectively. In two recent reports, we show an association between FCRL3 and juvenile rheumatoid arthritis (JRA), and MHC2TA and acute coronary syndrome (ACS) in Mexican population. We assessed the association between three single nucleotide polymorphisms (SNPs) of the MHC2TA (-168G/A; rs3087456, and +16G/C; rs4774) and FCRL3 (-169T/C; rs7528684) genes and rheumatoid arthritis in Mexican population through a genotyping method using allelic discrimination assays with TaqMan probes. Our case-control study included 249 patients with RA and 314 controls. We found no evidence of an association between the MHC2TA -168G/A and +1614G/C or FCRL3 -169T/C polymorphisms and RA in this Mexican population. In this cohort of Mexican patients with RA, we observed no association between the MHC2TA or FCRL3 genes and this autoimmune disease.
Assuntos
Artrite Reumatoide/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Receptores Imunológicos/genética , Transativadores/genética , Adulto , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/epidemiologia , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Fenótipo , Fatores de RiscoRESUMO
STAT4 has been consistently associated with several autoimmune diseases, including rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). The aim of this study was to determine whether the STAT4 rs7574865G/T polymorphism confers susceptibility for RA and SLE in a sample of Mexican patients. This study included 869 individuals: 415 patients with RA, 128 patients with SLE, and 326 controls. Genotyping using TaqMan probes showed an association between the STAT4 rs7574865G/T polymorphism and RA (GG vs. TT: OR 1.99, p=0.0009; G vs. T: OR 1.42, p=0.0009) and SLE (GG vs. TT: OR 2.98, 0.0003; G vs. T: OR 1.74, p=0.0002). Gender stratification showed an association with RA (GG vs. TT: OR 1.99, 95% CI 1.3-3.1, p=0.002; G vs. T: OR 1.42, 95% CI 1.1-1.8, p=0.002) and SLE (GG vs. TT: OR 3.3, 95% CI 1.7-6.2, p=0.0002; G vs. T: OR 1.8, 95% CI 1.3-2.4, p=0.0002) in women. Thus, the STAT4 rs7574865G/T polymorphism confers risk for RA and SLE in the Mexican population.
Assuntos
Artrite Reumatoide/genética , Lúpus Eritematoso Sistêmico/genética , Fator de Transcrição STAT4/genética , Adulto , Artrite Reumatoide/epidemiologia , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Risco , Fatores SexuaisRESUMO
SETTING: Tuberculous rheumatism (Poncet's disease) is a reactive polyarthropathy associated with extra-pulmonary and pulmonary tuberculosis (TB) without evidence of mycobacterial infection of the involved joints. As all patients with TB do not present with this peculiar clinical feature, a genetic susceptibility is suspected. OBJECTIVE: To determine the major histocompatibility complex (MHC) class I and II alleles in Mexican mestizo patients with Poncet's disease. DESIGN: In this case-control study of 16 Mexican mestizo patients diagnosed with Poncet's disease and 99 ethnically matched healthy controls, high resolution human leukocyte antigen (HLA) typing was performed for HLA-A, B, DR and DQ by polymerase chain reaction. HLA-DRB1 and HLA-DQB1 subtypes were performed by sequence-specific oligonucleotide probe hybridization. RESULTS: A significantly increased frequency of HLA-B27 (corrected P = 0.01) and DQB1*0301 (corrected P = 0.0009) alleles and decreased frequency of HLA-DQB1*0302 (corrected P = 0.00001) were identified in patients compared to healthy controls. CONCLUSION: These data suggest that genes located within the MHC may play a role in the susceptibility to Poncet's disease in patients diagnosed with TB.