Brasilia, Brazil
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Rabelo F.d.S.,University of Brasilia | da Mota L.M.H.,University of Brasilia | Lima R.A.C.,University of Brasilia | Lima F.A.C.,University of Brasilia | And 3 more authors.
Autoimmunity Reviews | Year: 2010

The Wnt signaling pathways play a key role in cell renewal, and there are two such pathways. In patients with rheumatoid arthritis (RA), the synovial membrane expresses genes such as Wnt and Fz at higher levels than those observed in patients without RA. The Wnt proteins are glycoproteins that bind to receptors of the Fz family on the cell surface. The Wnt/Fz complex controls tissue formation during embryogenesis, as well as throughout the process of limb development and joint formation. Recent studies have suggested that this signaling pathway plays a role in the pathophysiology of RA. Greater knowledge of the role of the Wnt signaling pathway in RA could improve understanding of the differences in RA clinical presentation and prognosis. Further studies should also focus on Wnt family members as molecular targets in the treatment of RA. © 2009 Elsevier B.V. All rights reserved.

Azevedo M.F.,University of Brasilia | Barra G.B.,Sabin Laboratory | Naves L.A.,University of Brasilia | Velasco L.F.R.,Sabin Laboratory | And 8 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2010

Context: Selenoproteins are essential for life, and their biosynthesis requires the incorporation of the rare amino acid selenocysteine (Sec) in a process mediated by the Sec insertion sequence-binding protein 2 (SBP2). Although SBP2 is considered a rate-limiting factor mediating Sec incorporation, there has been little evidence so far linking SBP2 dysfunction to widespread selenoprotein-related disease. Objective: The objective of the study was to report the discovery of novel truncation mutations in the SBP2gene(R120X/R770X) in a female adolescentandthe clinical consequences of thecombined deficiency of selenoproteins. Subjects and Methods: A 12-yr-old girl who presented with a syndrome of abnormal thyroid hormone metabolism, delayed bone maturation, congenital myopathy, and impaired mental and motor coordination development and her family were studied. The coding region of the SBP2 gene was analyzed by sequencing, and gel shift assays were performed to address the in vitro binding properties of the mutant SBP2 protein. Results: Serum levels of selenium and glutathione peroxidase in the proband were reduced, and selenoprotein P levels were undetectable. DNA sequencing of the SBP2 gene revealed a compound heterozygous mutation (R120X/R770X). The R120X mutation disrupted all functional motifs and the R770X inhibited the binding of SBP2 to Sec insertion sequence elements. Interestingly, selenium supplementation normalized serum selenium and glutathione peroxidase but not selenoprotein P levels and did not restore thyroid hormone metabolism dysfunction. Conclusions: This distinctive phenotype can only be explained by the combined deficiency of functionally important selenoproteins and pinpoints the clinical relevance of selenoproteins and selenium economy in human development. Copyright © 2010 by The Endocrine Society.

Barra G.B.,Sabin Laboratory | Barra G.B.,University of Brasilia | Santa Rita T.H.,University of Brasilia | Chianca C.F.,University of Brasilia | And 2 more authors.
International Journal of Legal Medicine | Year: 2014

The Federal District (Brazil) was created in 1960 in the Central-West Region of Brazil in a previously unpopulated area. In 2010, this artificially founded district was populated by 2,562,963 inhabitants. In this study, the genetic variations of the 15 Next Generation Multiplex (NGMTM) short tandem repeat loci were analyzed. The results indicate that the NGMTM is a highly informative genetic system in this population, which is more similar to the southeastern, northeastern, and overall Brazil populations. This conclusion agrees with the population composition reported in the 2010 National Survey Inquiries, in which most of the immigrants were from the northeast and the southeast. © 2013 Springer-Verlag Berlin Heidelberg.

Daher M.,University of Brasilia | Saito R.B.,University of Brasilia | Barra G.B.,Sabin Laboratory | Goveia C.S.,University of Brasilia | And 2 more authors.
Anaesthesia | Year: 2012

Summary We investigated whether genetic variations of the beta-2 adrenergic receptor (ADRB2) modulate the haemodynamic response following spinal anaesthesia for caesarean delivery. We focused on the effects of haplotypes formed by combinations of the Arg16Gly and Gln27Glu polymorphisms. Clinical data from 143 healthy parturients were collected. Only the ArgGln haplotype appeared to influence the risk of hypotension, most probably through a recessive mode of inheritance (p = 0.027). Therefore, patients were grouped according to ArgGln homozygosity in two groups: presence of one or no copies of the haplotype (n = 120) or two copies of the haplotype (n = 23). Both groups presented similar baseline characteristics. Comparatively, patients homozygous for the ArgGln haplotype presented consistently higher blood pressure levels throughout the evaluation period (p = 0.001 for systolic arterial pressure variation from baseline). In conclusion, our results demonstrate that haplotype variations of the the ADRB2 modulate the haemodynamic response following spinal anaesthesia for caesarean delivery. © Anaesthesia © 2012 The Association of Anaesthetists of Great Britain and Ireland.

Marques A.E.M.,University of Brasilia | Barra G.B.,Sabin Laboratory | de Resende Oyama C.N.,University of Brasilia | Guerra E.N.S.,University of Brasilia
Journal of Oral Pathology and Medicine | Year: 2015

Background: Although the natural history of cervical and oral infection by human papillomavirus (HPV) has been intensely investigated, the ability of this virus to infect oral and genital mucosae in the same individual and its potential of communicability are still unclear. Objectives: This study aimed at assessing the presence of oropharyngeal HPV infection in women with cervical lesions and in their current sexual partners in a Brazilian population. Methods: It included a total of 65 patients, 43 women and 22 male partners. Medical history and the sociobehavioral profile were assessed through interviews that included the association of oropharyngeal HPV and the sexual behavior of patients, and also extra and intra-oral examinations were performed. Brushing was used to collect cells from the oropharyngeal mucosa. HPV DNA was checked through nested PCR with primers PGMY09/11 and GP5+/6+, and Pappilocheck to genotyping. Results: Oropharyngeal HPV infection was detected in four of 65 (6.15%) cases, with one of 43 (2.3%) women, and three of 22 (13.6%) male partners. Clinically no patient showed HPV-related oral lesions. Pappilocheck assay showed the absence of HPV genotype commonly found in cervical mucosa. Moreover, there was no correlation between the presence of oropharyngeal HPV and sexual behavior risk factors. Conclusions: The results suggest that the presence of cervical lesions does not lead to HPV oropharyngeal infection. It also highlights the low rate of HPV infection in the oropharyngeal mucosa of women with cervical lesions and their partners in a researched sample. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Zaconeta A.M.,University of Brasilia | Amato A.A.,University of Brasilia | Barra G.B.,Sabin Laboratory | Da Motta L.D.C.,University of Brasilia | And 3 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2015

Context: CRH participates in the hypothalamic-pituitary-adrenal axis and in neural circuits involved in the pathophysiology of depression. During pregnancy, the placenta produces large amounts of CRH, and production ceases abruptly after delivery. The relationship between CRH in the cerebrospinal fluid (CSF) during pregnancy and peripartum mood disorders has not been investigated. Objectives: The objectives were to determine whether there are differences in CSF CRH concentrations of pregnant and nonpregnant women and whether CSF CRH concentrations in late pregnancy are associated with the presence of depressive symptoms during pregnancy and in the early postpartum period. Design: This was a prospective cohort study conducted from January to April, 2011. Setting: The study was conducted in one public and two private hospitals in Brasilia, Brazil. Patients: Patients included 107 healthy pregnant women who underwent elective cesarean delivery and 22 nonpregnant healthy women who underwent spinal anesthesia for elective surgical sterilization. Intervention: CRH in CSF was measured in pregnant and nonpregnant women by ELISA. Main Outcome Measure: The association between CSF CRH concentration at delivery and maternal depression assessed before cesarean section and postpartum (4 to 8 wk) with the Edinburgh Postnatal Depression Scale (EPDS), with a cutoff of ≥ 13. Results: CRH concentration in the CSF was significantly higher in pregnant (4.1 ± 0.51 log CRH) than in nonpregnant women (3.6 ± 0.26 log CRH) (P < .001). Depressive symptoms starting after delivery occurred in 5.6% of women. CRH concentration in CSF was not different between women without depressive symptoms and women showing such symptoms during pregnancy or in the postpartum period. Conclusion: CRH concentration in the CSF was higher in pregnant women than in nonpregnant women. However, in this sample, CSF CRH in late pregnancy was not associated with new-onset depressive symptoms in the early postpartum period. Copyright © 2015 by the Endocrine Society.

Barra G.B.,Sabin Laboratory | Barra G.B.,University of Brasilia | Chianca C.F.,University of Brasilia | Santa Rita T.H.,University of Brasilia | And 2 more authors.
International Journal of Legal Medicine | Year: 2014

In this study, the genetic variations of 23 short tandem repeats on the Y-chromosome were analyzed in a sample of 201 males from the Federal District (Brazil). The Federal District (Brazil) was built in 1960 in Brazil's Central West region, where there was no previous population. In 2010, the population of this artificially founded district consisted of 2,500,000 inhabitants. We observed 200 different haplotypes, 199 of which were unique and one of which occurred two times. The haplotype diversity was 0.9999, and the discrimination capacity was 0.995. The data are available in the Y chromosome haplotype reference database under accession number YA003843. The results were compared to the haplotypes from other Brazilian macroregions. © 2014 Springer-Verlag Berlin Heidelberg.

PubMed | University of Brasilia and Sabin Laboratory
Type: Comparative Study | Journal: Clinical biochemistry | Year: 2015

The extracellular DNA occurring in plasma-EDTA and serum is a biomarker of growing interest, especially in prenatal diagnosis and oncology. The objectives of the present study were to compare the DNase activity in these specimens and to investigate its ex-vivo impact over the circulating cell-free DNA yield (ccfDNA), using the circulating cell-free fetal DNA (ccffDNA) as a tool.EDTA-plasma and serum from women bearing male fetus were submitted to an endogenous DNase activity assay based on qPCR hydrolysis probe degradation, they were treated with DNAse I to investigate the action of an exogenous nuclease and also submitted to different temperature conditions to investigate the temperature-dependent degradation of the ccffDNA. In all instances, all male ccffDNA were quantified by qPCR targeting the Y chromosome-specific sequence DYS-14. Moreover, a serial dilution of EDTA was added to nonanticoagulated plasma and serum before the endogenous DNAse activity assay, to investigate the EDTA-mediated inhibition of the bloods DNase.The endogenous nuclease activity was 14.9-fold higher in serum compared to EDTA-plasma. The DNAse I treatment did not alter the ccffDNA yields in EDTA-plasma, but completely degraded it in serum. The addition of increasing doses of EDTA to nonanticoagulated plasma and serum resulted in a stepwise inhibition of their nucleases activity. Finally, we observed a much more pronounced temperature-mediated decrease on the ccffDNA amount in serum compared to EDTA-plasma.The exogenous and endogenous DNases are more active in serum, the anticoagulant EDTA indirectly inhibits blood DNases, and consequently ccfDNA is protected from the bloods DNase preanalytical impact in EDTA-plasma.

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