Although mannose-binding lectin (MBL) is known to be involved in the primary defense against microorganisms, there are emerging lines of evidence for an active proinflammatory role for MBL in different chronic diseases. In this study we determined the circulating levels of MBL in patients with rheumatic heart disease (RHD). A total of 100 patients (77 women, 23 men; mean age 45.8 +/- 11 years, range 19-76 years) with chronic RHD, and a previous diagnosis of rheumatic fever, were studied. Transthoracic echocardiography was performed in all patients to evaluate valvular heart disease. Ninety-nine healthy individuals matched for age, sex and ethnic origin were included as controls. MBL concentration was measured by enzyme-linked immunosorbent assay and C3 and C4 levels by turbidimetry. MBL levels were significantly higher in patients with RHD than in healthy subjects (mean +/- SEM: 3036.2 +/- 298.9 ng/ml versus 1942.6 +/- 185.5 ng/ml, P <0.003). In addition, MBL deficiency was more prevalent in controls (17.1%) than in patients (9% P <0.09). Concentrations of C4 were within the normal range (22.7 +/- 0.8 mg/dl, normal: 10.0-40.0 mg/dl), while C3 concentrations were found to be elevated (109.2 +/- 3.6 mg/dl, normal: 50.0-90.0 mg/dl). No correlation was observed between serum MBL levels and valve area or the type of surgical procedure. The significantly elevated circulating MBL levels in patients with RHD together with the greater prevalence of MBL deficiency in controls suggest that MBL may cause undesirable complement activation contributing to the pathogenesis of RHD.

N-Acetylglucosamine (GlcNAc) is the major immunoepitope of group A streptococcal cell wall carbohydrates. Antistreptococcal antibodies cross-reactive with anti-GlcNAc and laminin are present in sera of patients with rheumatic fever. The cross-reactivity of these antibodies with human heart valvular endothelium and the underlying basement membrane has been suggested to be a possible cause of immune-mediated valve lesion. Mannose-binding lectin (MBL) encoded by the MBL2 gene, a soluble pathogen recognition receptor, has high affinity for GlcNAc. We postulated that mutations in exon 1 of the MBL2 gene associated with a deficient serum level of MBL may contribute to chronic severe aortic regurgitation (AR) of rheumatic etiology. We studied 90 patients with severe chronic AR of rheumatic etiology and 281 healthy controls (HC) for the variants of the MBL2 gene at codons 52, 54, and 57 by using a PCR-restriction fragment length polymorphism-based method. We observed a significant difference in the prevalence of defective MBL2 alleles between patients with chronic severe AR and HC. Sixteen percent of patients with chronic severe AR were homozygotes or compound heterozygotes for defective MBL alleles in contrast to 5% for HC (P ‫؍‬ 0.0022; odds ratio, 3.5 [95% confidence interval, 1.6 to 7.7]). No association was detected with the variant of the MASP2 gene. Our study suggests that MBL deficiency may contribute to the development of chronic severe AR of rheumatic etiology.Rheumatic fever (RF), which results from a nonsuppurative sequela of pharyngitis caused by group A streptococcus (GAS) in untreated genetically susceptible hosts, displays a wide spectrum of clinical manifestations including carditis, arthritis, chorea, subcutaneous nodules, and erythema marginatum (3). Arthritis occurs in 60 to 65% of patients while carditis, the most serious manifestation and one which often leads to valvular scarring, is observed in 30 to 45% of patients with RF.

BackgroundRestrictions imposed by the gluten-free diet generate large changes in the daily habits of the celiac patient, causing a negative impact on quality of life.ObjetiveThis study aimed to evaluate the quality of life of patients with celiac disease on a capital in Southern Brazil.MethodsPatients older than 18 years were included, with confirmed celiac disease for at least 60 days in the period from June to October 2013. A validated questionnaire, with specific questions to assess the patient’s quality of life celiac was applied. A total score ranged from 20 to 100 points; the higher the score, worse quality of life.ResultsA total of 103 questionnaires were evaluated, 96 (93.2%) female, with average score 56.6±12.35 (28 to 88 points). The comparison between the questionnaire scores and family income was not significant (P=0.139). Patients diagnosed less than 1 year have poorer quality of life than those with more than 10 years (P=0.063). Patients older than 60 years had better quality of life compared with the younger ones (P=0.04).ConclusionThere was no association between quality of life and factors such as family income, length of diet and age at diagnosis. Chronological age greater than 60 years has positively influenced the quality of life of celiac patients.

The prevalence of the autoantibodies ANA, SMA, AMA, GPCA, LKM and ANCA in patients with EPF was similar to that observed in the control group. No association with clinical or laboratory manifestations of other concomitant autoimmune diseases was observed in EPF patients. These results confirm the concept that EPF is an organ-specific autoimmune disease.

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It has been suggested that the adaptive stress response may be disrupted by life adverse events such as childhood maltreatment. To investigate if the number of adverse childhood experiences (ACEs) increases susceptibility to systemic lupus erythematosus (SLE), spondyloarthritis (SpA), scleroderma (SSc), and rheumatoid arthritis (RA), we interviewed 315 patients with rheumatic disease (100 SLE; 40 SSc; 60 SpA; 115 RA) and 272 controls, using questions of the ACEs study questionnaire validated to ask about experiences of childhood abuse, negligence, domestic violence, and household dysfunctions. The questionnaire score ranges from zero (best result) to 8 (worst scenario). Patients and controls did not differ regarding the median number of ACEs (3 in both groups, patient IQR = 2.5-5 vs. control IQR = 2-5, p = 0.45). Among the patients, 63.8% (201/315) presented ACE score ≥ 3, compared with 59.9% (163/272) of the controls (p = 0.31). The proportion of patients with at least 3 ACEs did also not differ among those with different rheumatic diseases. Specifically, 64% (64/100) of those with SLE, 60% (24/40) of those with SSc, 60% (36/60) of those with SpA, and 66.9% (77/115) of those with RA reported at least 3 ACEs. There was also no difference between the distribution of ACE scores and number of individuals with ACEs ≥ 3 between patients with different rheumatic diseases and controls. Nevertheless, there was a trend for association between higher ACE score and susceptibility to RA (p = 0.06). In this setting, the occurrence of ACEs was not associated with susceptibility to rheumatic diseases in adulthood.

These data indicates a high prevalence (5.6%) of confirmed celiac disease in Down syndrome patients from southern Brazil.