Hematological parameters in children with Down syndrome

Introduction: There are few studies that investigated whether Down syndrome (DS) interferes with references values for complete blood counts (CBC) test in children with the syndrome. Objective: This study aimed to analyze the results of CBC performed in children with DS. Patients and methods: Data from CBC of DS children were included; at the time of examination they were aged between 2 and 10 years and had no clinical signs and/or symptoms of infectious disease. The hematological parameters analyzed were: total number of erythrocytes (RBC), hemoglobin (Hb) concentration, hematological indices, platelet count, and total number of leucocytes. Additionally, we compared the collected parameters according to gender and age of the children studied. Results: A total of 203 CBC (100 girls and 103 boys) were evaluated. In general, no significant differences were observed in studied parameters between the values found in samples of DS children and the values described in the literature as a reference for children in this age group. No difference in the prevalence of anemia was observed in relation to gender (p = 0.33), 14/103 (13.6%) boys, and 11/100 (11%) girls had anemia. However, the Hb and hematological indices values found in boys was significantly lower than in girls (p < 0.001). Conclusion: This investigation is the first one in Brazil to present and analyze the CBC results of DS children, reporting that their hematological indices are within the expected range for children without DS. Additionally, it was found that 12.3% of them had anemia

Analysis of four serum biomarkers in rheumatoid arthritis: association with extra articular manifestations in patients and arthralgia in relatives

ABSTRACT Objectives: To evaluate the frequency of four serum biomarkers in RA patients and their relatives and identify possible associations with clinical findings of the disease. Methods: This was a transversal analytical study. Anti-cyclic citrullinated peptide (anti-CCP), anti-mutated citrullinated vimentin (anti-MCV) and IgA-rheumatoid factor (RF) were determined by ELISA and IgM-RF by latex agglutination in 210 RA patients, 198 relatives and 92 healthy controls from Southern Brazil. Clinical and demographic data were obtained through charts review and questionnaires. Results: A higher positivity for all antibodies was observed in RA patients when compared to relatives and controls (p < 0.0001). IgA-RF was more frequent in relatives compared to controls (14.6% vs. 5.4%, p = 0.03, OR = 2.98; 95% CI = 1.11-7.98) whereas anti-CCP was the most common biomarker among RA patients (75.6%). Concomitant positivity for the four biomarkers was more common in patients (46.2%, p < 0.0001). Relatives and controls were mostly positive for just one biomarker (20.2%, p < 0.0001 and 15.2%, p = 0.016, respectively). No association was observed between the number of positive biomarkers and age of disease onset, functional class or tobacco exposure. In seronegative patients predominate absence of extra articular manifestations (EAMs) (p = 0.01; OR = 3.25; 95% CI = 1.16-10.66). Arthralgia was present in positive relatives, regardless the type of biomarker. Conclusions: A higher number of biomarkers was present in RA patients with EAMs. Positivity of biomarkers was related to arthralgia in relatives. These findings reinforce the link between distinct biomarkers and the pathophysiologic mechanisms of AR

Mannose binding lectin and susceptibility to rheumatoid arthritis in Brazilian patients and their relatives.

INTRODUCTION: Rheumatoid arthritis (RA) is a commonly occurring systemic inflammatory auto immune disease and is believed to be associated with genetic factors. The innate immune complement protein Mannose binding lectin (MBL) and their MBL2 genetic variants are associated with different infectious and autoimmune diseases. METHODS: In a Brazilian cohort, we aim to associate the functional role of circulating MBL serum levels and MBL2 variants in clinically classified patients (n = 196) with rheumatoid arthritis including their relatives (n = 200) and ethnicity matched healthy controls (n = 200). MBL serum levels were measured by ELISA and functional MBL2 variants were genotyped by direct sequencing. RESULTS: The exon1+54 MBL2*B variant was significantly associated with an increased risk and the reconstructed haplotype MBL2*LYPB was associated with RA susceptibility. Circulating serum MBL levels were observed significantly lower in RA patients compared to their relatives and controls. No significant contribution of MBL levels were observed with respect to functional class, age at disease onset, disease duration and/or other clinical parameters such as nodules, secondary Sjögren syndrome, anti-CCP and rheumatoid factor. Differential distribution of serum MBL levels with functional MBL2 variants was observed in respective RA patients and their relatives. CONCLUSIONS: Our results suggest MBL levels as a possible marker for RA susceptibility in a Brazilian population

QUALITY OF LIFE EVALUATION IN CELIAC PATIENTS FROM SOUTHERN BRAZIL

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&#8217;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