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| Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide. |
| Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727 |
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| Silva,Ronaldo Celerino da; Cruz,Heidi Lacerda Alves da; Brandão,Lucas André Cavalcanti; Guimarães,Rafael Lima; Montenegro,Lilian Maria Lapa; Schindler,Haiana Charifker; Segat,Ludovica; Crovella,Sergio. |
| Abstract β-Defensin-1, an antimicrobial peptide encoded by the DEFB1 gene, is known to play an important role in lung mucosal immunity. In our association study we analyzed three DEFB1 functional polymorphisms -52G>A (rs1799946), -44C>G (rs1800972) and -20G>A (rs11362) in 92 tuberculosis patients and 286 healthy controls, both from Northeast Brazil: no association was found between the studied DEFB1 polymorphisms and the disease. However we cannot exclude that this lack of association could be due to the low number of subjects analyzed, as suggested by the low statistical power achieved for the three analyzed SNPs (values between 0.16 and 0.50). |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tuberculosis; Innate immunity; DEFB1; Genotyping; Polymorphism. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822016000200389 |
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| Cruz,Heidi Lacerda Alves da; Montenegro,Rosana de Albuquerque; Lima,Juliana Falcão de Araújo; Poroca,Diogo da Rocha; Lima,Juliana Figueirêdo da Costa; Montenegro,Lílian Maria Lapa; Crovella,Sergio; Schindler,Haiana Charifker. |
| The polymerase chain reaction (PCR) and its variations, such as the nested-PCR, have been described as promising techniques for rapid diagnosis of tuberculosis (TB). With the aim of evaluating the usefulness of a nested-PCR method on samples of blood and urine of patients suspected of tuberculosis we analyzed 192 clinical samples, using as a molecular target the insertion element IS6110 specific of M. tuberculosis genome. Nested-PCR method showed higher sensitivity in patients with extrapulmonary tuberculosis (47.8% and 52% in blood and urine) when compared to patients with the pulmonary form of the disease (sensitivity of 29% and 26.9% in blood and urine), regardless of the type of biological sample used. The nested-PCR is a rapid technique that, even if... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mycobacterium tuberculosis; Nested-PCR; Blood; Urine; Molecular diagnosis; IS6110 insertion sequence. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1517-83822011000100041 |
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| Coelho,Antonio Victor Campos; Coelho,Hemílio Fernandes Campos; Arraes,Luiz Cláudio; Crovella,Sergio. |
| Abstract HIV-1 mother-to-child transmission (HIV-1 MTCT), is an important cause of children mortality worldwide. Brazil has been traditionally praised by its HIV/Aids program, which provides free-of-charge care for people living with HIV-1. Using public epidemiology and demographic databases, we aimed at modeling HIV-1 MTCT prevalence in Brazil through the years (1994-2016) and elaborate a statistical model for forecasting, contributing to HIV-1 epidemiologic surveillance and healthcare decision-making. We downloaded sets of live births and mothers' data alongside HIV-1 cases notification in children one year old or less. Through time series modeling, we estimated prevalence along the years in Brazil, and observed a remarkable decrease of HIV-1 MTCT... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HIV-1; Vertical transmission; Perinatal transmission; Biostatistics; Epidemiology; Forecasting. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702019000400218 |
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| Polesello,Vania; Segat,Ludovica; Biasotto,Matteo; Ottaviani,Giulia; Gobbo,Margherita; Di Lenarda,Roberto; Crovella,Sergio; Zupin,Luisa. |
| Abstract Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of the innate immune response and an acute-phase protein able to activate the complement cascade, was investigated to assess a possible association with OLP susceptibility in Italian patients. Two variations at the promoter region (called H/L and X/Y) and three at the first exon (at codon 52, 54, and 57) of the MBL2 gene were analyzed in 69 OLP patients and 244 healthy controls from northeastern Italy. Considering the polymorphisms... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mannose-Binding Protein-C; MBL2; Oral Lichen Planus; Polymorphisms. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100009 |
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| Zupin,Luisa; Polesello,Vania; Kamada,Anselmo Jiro; Gratton,Rossella; Segat,Ludovica; Kuhn,Louise; Crovella,Sergio. |
| Abstract Perforin-1, a component of the immune system, is able to control Human Immunodeficiency Virus-1 (HIV-1) replication and could be involved in HIV-1 mother-to-child transmission (MTCT). This study aims at evaluating the role of the c.900C > T PRF1 gene (encoding for perforin-1) polymorphism (rs885822) in HIV-1 MTCT. The PRF1 c.900C > T polymorphism was genotyped in 331 children from Zambia using a Taqman probe on a Real Time PCR platform. The PRF1 c.900C > T C/T genotype was more frequent among HIV-1 exposed but non-infected children than in HIV-1 positive cases, and the results were confirmed among children infected during breastfeeding. PRF1 c.900C > T correlated with protection against HIV-1 MTCT, suggesting its role in HIV-1 vertical... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: PRF1; Perforin; HIV-1 susceptibility. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400574 |
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| Silva,Ronaldo Celerino da; Alves,Neyla Maria Pereira; Pereira,Jorge José de Souza; Coelho,Antonio Victor Campos; Arraes,Luiz Cláudio; Brandão,Lucas André Cavalcanti; Crovella,Sergio; Silva,Jaqueline de Azevêdo. |
| Abstract Vitamin D exerts an immuno-modulatory activity on several immune system cells through the vitamin D receptor (VDR). Herein, we verified that age and a therapeutic regimen containing protease inhibitors are associated with failures in antiretroviral therapies (ARVs). In addition, we assessed whether a VDR SNP (rs11568820: C allele and CC genotype) and GC (rs2228570-rs11568820) allelic combinations are associated with immunological failure (p < 0.05). Our findings suggest a possible role of VDR SNPs on immunological failure in HIV-1+ individuals undergoing regular ARVs. |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: VDR; HIV-1; ARVs; SNPs; CD4 recovery. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300351 |
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