33 results on '"Adorno, Elisângela Vitória"'
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2. Hydroxyurea in the management of sickle cell disease: pharmacogenomics and enzymatic metabolism
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Yahouédéhou, Sètondji Cocou Modeste Alexandre, Adorno, Elisângela Vitória, da Guarda, Caroline Conceição, Ndidi, Uche Samuel, Carvalho, Suellen Pinheiro, Santiago, Rayra Pereira, Aleluia, Milena Magalhães, de Oliveira, Rodrigo Mota, and Gonçalves, Marilda de Souza
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- 2018
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3. Leg Ulcers in Sickle Cell Disease: A Multifactorial Analysis Highlights the Hemolytic Profile
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Santos, Edvan do Carmo, primary, Santana, Paulo Vinícius Bispo, additional, Jesus, Laíne Lopes Silva de, additional, Melo, Gabriela Imbassahy Valentim, additional, Yahouédéhou, Sètondji Cocou Modeste Alexandre, additional, Guarda, Caroline Conceição da, additional, Santiago, Rayra Pereira, additional, Fiuza, Luciana Magalhães, additional, Carvalho, Suéllen Pinheiro, additional, Santos, Liz Oliveira dos, additional, Adorno, Elisângela Vitória, additional, Aleluia, Augusto Cezar Magalhães, additional, Luiz, Luciene Cristina Gastalho Campos, additional, Fonseca, Teresa Cristina Cardoso, additional, Gonçalves, Marilda de Souza, additional, and Aleluia, Milena Magalhães, additional
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- 2023
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4. A Description of the Hemolytic Component in Sickle Leg Ulcer: The Role of Circulating miR-199a-5p, miR-144, and miR-126
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Santos, Edvan do Carmo, primary, Melo, Gabriela Imbassahy Valentim, additional, Santana, Paulo Vinícius Bispo, additional, Quadros, Idaiara Graziele Silva, additional, Yahouédéhou, Sètondji Cocou Modeste Alexandre, additional, Guarda, Caroline Conceição da, additional, Santiago, Rayra Pereira, additional, Fiuza, Luciana Magalhães, additional, Carvalho, Suéllen Pinheiro, additional, Adorno, Elisângela Vitória, additional, Kaneto, Carla Martins, additional, Fonseca, Teresa Cristina Cardoso, additional, Goncalves, Marilda Souza, additional, and Aleluia, Milena Magalhães, additional
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- 2022
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5. Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil
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Adorno Elisângela Vitória, Couto Fábio David, Moura Neto José Pereira de, Menezes Joelma Figueiredo, Rêgo Marco, Reis Mitermayer Galvão dos, and Gonçalves Marilda Souza
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Hemoglobinopathies ,Sickle Cell Anemia ,Thalassemia ,Newborn Infant ,Medicine ,Public aspects of medicine ,RA1-1270 - Abstract
Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.
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- 2005
6. C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil
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Couto Fábio David, Adorno Elisângela Vitória, Menezes Joelma Figueiredo, Moura Neto José Pereira, Rêgo Marco Antônio Vasconcelos, Reis Mitermayer Galvão dos, and Gonçalves Marilda Souza
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Newborns Infant ,Polymorphism ,Hemoglobinopathies ,Medicine ,Public aspects of medicine ,RA1-1270 - Abstract
The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred forty-three neonates from two different maternity hospitals, one public and another private, in Salvador, Bahia, Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the prevalence rates of heterozygous and homozygous carriers were 36.2% and 5.3%, respectively. The T-allele frequency differed and the T/T genotype was more prevalent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 newborns. The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns, showing a relatively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.
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- 2004
7. An evaluation of ticagrelor for the treatment of sickle cell anemia
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Ribeiro-Filho, Jaime, primary, Yahouédéhou, Sètondji Cocou Modeste Alexandre, additional, Pitanga, Thassila Nogueira, additional, Santana, Sânzio Silva, additional, Adorno, Elisângela Vitória, additional, Barbosa, Cynara Gomes, additional, Ferreira, Júnia Raquel Dutra, additional, Pina, Eugênia Terra Granado, additional, Neres, Joelma Santana dos Santos, additional, Leite, Ivana Paula Ribeiro, additional, Lyra, Isa Menezes, additional, and Goncalves, Marilda Souza, additional
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- 2020
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8. Sickle Cell Anemia: Variants in the CYP2D6, CAT, and SLC14A1 Genes Are Associated With Improved Hydroxyurea Response
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Yahouédéhou, Sètondji Cocou Modeste Alexandre, primary, Neres, Joelma Santana dos Santos, additional, da Guarda, Caroline Conceição, additional, Carvalho, Suellen Pinheiro, additional, Santiago, Rayra Pereira, additional, Figueiredo, Camylla Vilas Boas, additional, Fiuza, Luciana Magalhães, additional, Ndidi, Uche Samuel, additional, de Oliveira, Rodrigo Mota, additional, Fonseca, Cleverson Alves, additional, Nascimento, Valma Maria Lopes, additional, Rocha, Larissa Carneiro, additional, Adanho, Corynne Stéphanie Ahouéfa, additional, da Rocha, Tiago Santos Carvalho, additional, Adorno, Elisângela Vitória, additional, and Goncalves, Marilda Souza, additional
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- 2020
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9. Hydroxyurea alters hematological, biochemical and inflammatory biomarkers in Brazilian children with SCA: Investigating associations with βS haplotype and α-thalassemia
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Yahouédéhou, Sètondji Cocou Modeste Alexandre, primary, da Guarda, Caroline Conceição, additional, Figueiredo, Camylla Vilas Boas, additional, Santiago, Rayra Pereira, additional, Carvalho, Suellen Pinheiro, additional, Fiuza, Luciana Magalhães, additional, Ndidi, Uche Samuel, additional, Oliveira, Rodrigo Mota, additional, Carvalho, Magda Oliveira Seixas, additional, Nascimento, Valma Maria Lopes, additional, Rocha, Larissa Carneiro, additional, Lyra, Isa Menezes, additional, Adorno, Elisângela Vitória, additional, and Goncalves, Marilda Souza, additional
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- 2019
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10. Genetic Polymorphisms Associated with Environmental Exposure to Polycyclic Derivatives in African Children
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de Oliveira, Rodrigo Mota, primary, Figueiredo, Camylla Vilas Boas, additional, Santiago, Rayra Pereira, additional, Yahouédéhou, Sètondji Cocou Modeste Alexandre, additional, Carvalho, Suéllen Pinheiro, additional, da Paz, Silvana Souza, additional, Fiuza, Luciana Magalhães, additional, de Miranda, Fernando Nunes, additional, da Guarda, Caroline Conceição, additional, Fonseca, Cleverson Alves, additional, Aleluia, Milena Magalhães, additional, Barbosa, Cynara Gomes, additional, Adorno, Elisângela Vitória, additional, and Gonçalves, Marilda de Souza, additional
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- 2018
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11. Sickle Cell Anemia Patients in Use of Hydroxyurea: Association between Polymorphisms in Genes Encoding Metabolizing Drug Enzymes and Laboratory Parameters
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Yahouédéhou, Sètondji Cocou Modeste Alexandre, primary, Carvalho, Magda Oliveira Seixas, additional, Oliveira, Rodrigo Mota, additional, Santiago, Rayra Pereira, additional, da Guarda, Caroline Conceição, additional, Carvalho, Suellen Pinheiro, additional, Ferreira, Júnia Raquel Dutra, additional, Aleluia, Milena Magalhães, additional, Adorno, Elisângela Vitória, additional, and Gonçalves, Marilda de Souza, additional
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- 2018
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12. Evaluation of Cardiometabolic Parameters among Obese Women Using Oral Contraceptives
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Ferreira, Júnia Raquel Dutra, primary, Aleluia, Milena Magalhães, additional, Figueiredo, Camylla Vilas Boas, additional, Vieira, Larissa Castro de Lima, additional, Santiago, Rayra Pereira, additional, da Guarda, Caroline Conceição, additional, Barbosa, Cynara Gomes, additional, Oliveira, Ricardo Riccio, additional, Adorno, Elisângela Vitória, additional, and Gonçalves, Marilda de Souza, additional
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- 2017
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13. Association of classical markers and establishment of the dyslipidemic sub-phenotype of sickle cell anemia
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Aleluia, Milena Magalhães, primary, da Guarda, Caroline Conceição, additional, Santiago, Rayra Pereira, additional, Fonseca, Teresa Cristina Cardoso, additional, Neves, Fábia Idalina, additional, de Souza, Regiana Quinto, additional, Farias, Larissa Alves, additional, Pimenta, Felipe Araújo, additional, Fiuza, Luciana Magalhães, additional, Pitanga, Thassila Nogueira, additional, Ferreira, Júnia Raquel Dutra, additional, Adorno, Elisângela Vitória, additional, Cerqueira, Bruno Antônio Veloso, additional, and Gonçalves, Marilda de Souza, additional
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- 2017
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14. Journal of Parasitology
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Teixeira, M. C. A., Inês, Elizabete de Jesus, Pacheco, Flávia Thamiris Figueiredo, Silva, R. K. N. R., Mendes, A. V., Adorno, Elisângela Vitória, Lima, F. M., and Soares, N. M.
- Abstract
p. 833-835. Submitted by JURANDI DE SOUZA SILVA (jssufba@hotmail.com) on 2012-04-19T17:47:20Z No. of bitstreams: 1 C__Documents and Settings_rep...t.default_Cache_2_ED_79305d01.pdf: 103701 bytes, checksum: dfb911a6e18ea4f32c45538e18cb2be6 (MD5) Made available in DSpace on 2012-04-19T17:47:20Z (GMT). No. of bitstreams: 1 C__Documents and Settings_rep...t.default_Cache_2_ED_79305d01.pdf: 103701 bytes, checksum: dfb911a6e18ea4f32c45538e18cb2be6 (MD5) Previous issue date: 2010-08 Strongyloides stercoralis infection is endemic in many tropical and subtropical areas. The parasite has the unusual ability to multiply inside the host due to the transformation of rhabditiform larvae into infective filariforms. Several studies have shown that chronic alcoholism is an important factor that predisposes to strongyloidiasis. The increased susceptibility to S. stercoralis infections seen in alcoholic individuals could be explained by their increased exposure to the parasite, malnutrition, breakdown of local immune responses, and/or alterations in intestinal barriers. Moreover, ethanol intoxication can elevate human endogenous corticosterone, which, in turn, suppresses T cell function and increases the fecundity and survival of the parasite, mimicking the effect of worm ecdysteroides. Although chronic alcoholism is a risk factor for nematode infection, most cases of hyperinfection or dissemination are associated with the presence of hepatic cirrhosis or strongyloidiasis-related symptoms. The present study describes a case of S. stercoralis hyperinfection in a 51-yr-old male patient without gastrointestinal or pulmonary symptoms and with previous anemia and chronic alcoholism. He was not receiving glucocorticoid therapy and tested negative for HTLV and human immunodeficiency virus (HIV), but he had a history of alcohol addiction for more than 20 yr. Laboratory test results showed increased eosinophilia and a high immunoglobulin E (IgE) level, which may have temporarily protected the patient from dissemination of infection, but not prevented proliferation of the parasite, as shown by the large number of S. stercoralis larvae recovered using the Baermann method. Evaluation for strongyloidiasis should occur in alcoholics, especially in endemic areas, to prevent occult asymptomatic infections from progressing to life-threatening cases.
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- 2010
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15. Antígenos plaquetários humanos HPA1, HPA3 e HPA5 e risco de eventos vaso-oclusivos em portadores de anemia falciforme de Salvador – Bahia
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Adorno, Elisângela Vitória, Almeida, Handerson Fabrício Costa de, Laranjeira, Débora Santana, Almeida, Mari Ney Tavares, and Gonçalves, Marilda de Souza
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Platelets ,Genetic polymorphism ,Plaquetas ,Sickle cell anemia ,Polimorfismo genético ,Anemia falciforme - Abstract
Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Salvador, BA, Brasil Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Salvador, BA, Brasil A anemia falciforme (AF) é caracterizada por manifestações clínicas heterogêneas, provenientes da hemólise e fenômenos de vaso-oclusão (VO). Atualmente, a ativação e expressão de moléculas de adesão em leucócitos, plaquetas e células endoteliais têm sido associadas à gênese da VO. Assim, o presente estudo investigou polimorfismos gênicos em glicoproteínas de membrana plaquetária (GP) associando-os aos dados hematológicos e perfil clínico dos pacientes. A casuística foi de 77 indivíduos com AF, com mediana de idade de nove anos (0 a 17 anos). Os dados clínicos foram obtidos dos prontuários médicos; as avaliações moleculares foram realizadas por reação em cadeia da polimerase seguida pela digestão com endonucleases de restrição (PCR-RFLP) e as análises estatísticas no programa EPINFO, versão 6.04. Nesse grupo, 59 (76,6%) indivíduos apresentaram internações hospitalares, 41 (52,3%) utilizaram hemoderivados e 60 (77,9%) apresentaram pelo menos um evento VO. A análise para o polimorfismo Hpa1 localizado no gene da GP IIIa demonstrou 53 (68,8%) homozigotos para o alelo a, 23 (29,9%) heterozigotos e um (1,3%) homozigoto b; a pesquisa do polimorfismo Hpa3 (GPIIb) foi identificada em 70 indivíduos, demonstrando 27 (38,6%) homozigotos a, 35 (50,0%) heterozigotos e oito (11,4%) homozigotos b; o polimorfismo Hpa5 (GPIa) revelou 54 (70,1%) homozigotos a e 23 (29,9%) heterozigotos. Os resultados não demonstraram associação entre os polimorfismos e o perfil clínico dos portadores de AF de Salvador, Bahia. Entretanto, consideramos de fundamental importância a associação desses polimorfismos com a expressão de moléculas de adesão em plaquetas, de maneira a testar diretamente uma possível participação destes no fenômeno VO. The sickle cell anemia (SCA) is characterized by clinical manifestations heterogeneous, proceeding from hemolytics and vosocclusive events (VOE). Currently, the molecule activation and expression of adhesion in leukocytes, platelets and endothelial cells have been associates to the VOE. Thus, the present study it investigated genetic polymorphisms in glycoproteins gene of platelets (GP) associating them it the hematological data and clinical profile of the patients. The casuistry was of 77 individuals with SCA and medium of age of nine years (the 0 17 years). The clinical data had been gotten of medical handbooks; the molecular evaluations had been carried through by reaction in chain of polymerase followed by the digestion with enzymes of restriction (RCP-RFLP) and the statistical analyses in the program EPINFO, version 6.04. In this group, 59 (76.6%) individuals had presented hospitalization, 41 (52.3%) had blood transfusion and 60 (77.9%) had presented at least a vasoocclusive event. The analysis for the polymorphism Hpa1 located in the GPIIIa gene demonstrated 53 (68.8%) homozygous for allele, 23 (29.9%) heterozygous and one (1.3%) homozygous b; the research of the polymorphism Hpa3 (GPIIb) was identified in 70 individuals, demonstrating 27 (38.6%) homozygous, the 35 (50.0%) heterozygous and eight (11.4%) homozygous b; the polymorphism Hpa5 (GPIa) demonstrated the 54 (70.1%) homozygous and 23 (29.9%) heterozygous. The results had not demonstrated to association between the polymorphisms and the clinical profile of the carriers of SCA of Salvador, Bahia State. However, we consider of basic importance the association of these polymorphisms with the molecule expression of adhesion in platelets, in way to directly test a possible participation of these in vaso-occlusive phenomenon.
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- 2010
16. Genetics and Molecular Biology
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Adorno, Elisângela Vitória, Zanette, Angela Maria Dias, Lyra, Isa Menezes, Seixas, Magda Oliveira, Reis, Mitermayer Galvão, and Gonçalves, Marilda Souza
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Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal) ,βS-globin gene haplotypes ,Fetal hemoglobin - Abstract
p. 621-625 Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-11-25T14:17:13Z No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-26T12:51:40Z (GMT) No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Made available in DSpace on 2013-11-26T12:51:40Z (GMT). No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Previous issue date: 2008 Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to those > 18 y, those aged < 18 y had had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36) but a higher frequency of spleen sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α23.7 kb thal (determined by PCR analysis) had significantly higher mean hemoglobin concentration (Hb) (8.3 ± 1.34 g/dL, p = 0.018) and packed cell volume (PCV = 27.1% ± 4.26, p = 0.019) but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56, p = 0.0004) and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039).
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- 2008
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17. Brazilian Journal of Medical and Biological Research
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Adorno, Elisângela Vitória, Moura Neto, José Pereira de, Lyra, Isa Menezes, Zanette, Angela Maria Dias, Santos, L. F. O., Seixas, Magda Oliveira, Reis, M. G., and Goncalves, M. S.
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ßS-globin gene haplotypes ,Locus control region ,g-globin promoter ,Sickle cell anemia ,Fetal hemoglobin - Abstract
p. 95-98. Submitted by JURANDI DE SOUZA SILVA (jssufba@hotmail.com) on 2012-07-11T14:22:05Z No. of bitstreams: 1 plugin-6764-2.pdf: 498632 bytes, checksum: 8f18a86379e886236186d4f4a161dd3b (MD5) Made available in DSpace on 2012-07-11T14:22:05Z (GMT). No. of bitstreams: 1 plugin-6764-2.pdf: 498632 bytes, checksum: 8f18a86379e886236186d4f4a161dd3b (MD5) Previous issue date: 2008 The fetal hemoglobin (HbF) levels and ßS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2%) patients had CAR/Ben genotype; 36 (28.8%) Ben/Ben; 18 (14.4%) CAR/CAR; 2 (1.6%) CAR/Atypical; 2 (1.6%) Ben/Cam; 1 (0.8%) CAR/Cam; 1 (0.8%) CAR/Arab-Indian, and 1 (0.8%) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.
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- 2008
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18. Anemia falciforme em Salvador-Bahia: caracterização fenotípica, molecular e de seqüências gênicas potencialmente importantes na expressão dos genes gama da hemoglobina fetal
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Adorno, Elisângela Vitória and Gonçalves, Marilda de Souza
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Phenotype ,Haplotypes ,Genotype ,Genótipo ,Fenótipo ,Sickle cell anemia ,Haplótipos ,Hemoglobina fetal ,Fetal hemoglobin ,Anemia Falciforme - Abstract
142f. Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-05-24T13:11:05Z No. of bitstreams: 1 Elisangela Adorno.pdf: 3379043 bytes, checksum: 972521d9aae8561da326946dd4da678a (MD5) Approved for entry into archive by Flávia Ferreira(flaviaccf@yahoo.com.br) on 2013-05-30T00:18:31Z (GMT) No. of bitstreams: 1 Elisangela Adorno.pdf: 3379043 bytes, checksum: 972521d9aae8561da326946dd4da678a (MD5) Made available in DSpace on 2013-05-30T00:18:31Z (GMT). No. of bitstreams: 1 Elisangela Adorno.pdf: 3379043 bytes, checksum: 972521d9aae8561da326946dd4da678a (MD5) Previous issue date: 2005 Introdução. A hemoglobina S (HbS) resulta da troca de nucleotídeo (GAG GTG) no sexto codon do gene da globina beta, levando à substituição do ácido glutâmico por valina na cadeia da globina beta. A anemia falciforme ou a homozigose para a HbS, freqüentemente apresenta manifestações clínicas heterogêneas, fortemente relacionadas aos níveis de hemoglobina fetal (HbF). Objetivo. O presente estudo investigou as características fenopíticas e os marcadores moleculares presentes em portadores da anemia falciforme de Salvador-BA, identificando seqüências gênicas potencialmente importantes para a expressão dos genes gama. Métodos. O perfil de hemoglobinas e o nível de HbF foram determinados por cromatografia líquida de alta performance (HPLC). Informações sobre o perfil clínico dos pacientes foram obtidas através da análise de prontuários. A talassemia α2 3.7Kb foi investigada pela reação em cadeia da polimerase (PCR) e os haplótipos ligados ao grupo de genes da globina berta S foram investigados por PCR e análise de sítios polimórficos utilizando endonucleases de restrição (RFLP). As regiões promotoras dos genes yG e γA e o HS2-LCR foram amplificados assimetricamente e seqüenciadas no ABI Prism 3100 prism DNA Sequencer. As análises estatísticas foram desenvolvidas no software EPI-INFO versão 6.04 e a significância foi estabelecida para p < 0.05. Resultados. Foram analisados 131 pacientes, dos quais 125 tiveram identificado o genótipo beta S, tendo sido encontrado 64 (51,2%) CAR/Ben; 36 (28,8%) Ben/Ben; 18 (14,4%) CAR/CAR; dois (1,6%) CAR/Aty;dois (1,6%) Ben/Cam; um (0,8%) CAR/Cam; um (0,8%) Car/Arabia-India e um (0,8%) Sen/Aty. A talassemia 2 3.7Kb foi estudada em 110 pacientes, onde 30 (27,3%) foram heterozigotos e dois (1,8%) homozigotos. O uso de transfusão sangüínea foi maior em pacientes com HbF menor que ou igual a 10,0% (p=0,009). Pacientes com genótipos α diferentes apresentaram diferenças para os valores de Hb (p=0,018); Ht (p=0,019); VCM (p=0,0004) e HCM (p=0,039). Os níveis de HbF foram maiores entre os pacientes Ben/Ben que entre os CAR/CAR (p=0,007) e CAR/Ben (p=0,013). A análise das seqüências do HS2-LCR de dez indivíduos demonstrou a substituição G A na posição ?10.677, presente apenas entre os portadores do haplótipo Ben com nível elevado de HbF, sugerindo uma possível associação entre este polimorfismo, a expressão dos genes γ e a síntese da HbF. A análise da região promotora do gene γG demonstrou a substituição T C na posição -157, que parece ser uma seqüência característica entre os pacientes estudados. Também foi encontrada a deleção de 4 pb na posição ?222 a ?225 no gene γG e relacionado ao haplótipo Cam. Conclusões. Os dados demonstraram um novo polimorfismo localizado no HS2-LCR e na região promotora do gene γG da globina, justificando a realização de estudos adicionais, associando os níveis de HbF, marcadores biológicos e mecanismos relacionados, visando esclarecer um possível papel no desenvolvimento do fenótipo da doença. Salvador
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- 2005
19. Cadernos de Saúde Pública
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Couto, Fábio David, Adorno, Elisângela Vitória, Menezes, Joelma Figueiredo, Moura Neto, José Pereira, Rêgo, Marco Antônio Vasconcelos, Reis, Mitermayer Galvão dos, and Gonçalves, Marilda Souza
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Hemoglobin opathies ,Hemoglobinopatias ,Newborns Infant ,Polymorphism ,Recém - nascidos ,Polimorfismo - Abstract
p. 529-533 Submitted by Ana Valéria de Jesus Moura (anavaleria_131@hotmail.com) on 2011-09-29T14:12:47Z No. of bitstreams: 1 21 (1).pdf: 119098 bytes, checksum: 1f65cbe67346de87babf4acf946593f8 (MD5) Made available in DSpace on 2011-09-29T14:12:47Z (GMT). No. of bitstreams: 1 21 (1).pdf: 119098 bytes, checksum: 1f65cbe67346de87babf4acf946593f8 (MD5) Previous issue date: 2004 The C677T polymorphism in the methylenetet ra h y d rofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred fort y - t h ree neonates from two different maternity h o spitals , one public and another priva t e , in Salva d o r, Ba h i a , Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the p re valence rates of heterozygous and homoz ygous carriers were 36.2% and 5.3%, re s p e c t i ve l y. The T-allele frequency differed and the T/T g e n otype was more pre valent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 new b o r n s . The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns , showing are latively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso - occlusive events in these individuals.
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- 2004
20. Cardiometabolic and Hemostatic Profiles of Women Carriers of Hemoglobin Variants Using Combined Oral Contraceptives
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Ferreira, Junia Raquel Dutra, Guarda, Caroline Conceição, Santiago, Rayra Pereira, Rocha, Luane, Ferreira, Jessica SANTOS, Araújo, Luís, Mota, Barbara, Pitanga, Thassila Nogueira, Milena, Milena Magalhães, Carvalho, Magda Seixas, Adorno, Elisangela Vitoria, and Goncalves, Marilda Souza
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- 2016
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21. Brazilian Journal of Medical and Biological Research
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Gonçalves, Marilda Souza, Bomfim, Gilberto Cafezeiro, Maciel, Elves Anderson Pires, Siqueira, Isadora Cristina de, Adorno, Elisângela Vitória, Albuquerque, Arlete Barreto Lins de, Fernandes, Gilênio Borges, Reis, Mitermayer Galvão dos, Lyra, Isa Menezes, Zanette, Angela Maria Dias, Pontes, Angela Maria de Carvalho, Dupuit, Marie France, and Bomfim, Glória
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Brazilian population ,S hemoglobin ,Sickle cell anemia ,Beta(S)-haplotypes ,Fetal hemoglobin - Abstract
p. 1283-1288 Submitted by Ana Valéria de Jesus Moura (anavaleria_131@hotmail.com) on 2011-10-13T12:24:29Z No. of bitstreams: 1 4526.pdf: 585067 bytes, checksum: cb0d25b2f356bbb59ad509d85a02d8a8 (MD5) Made available in DSpace on 2011-10-13T12:24:29Z (GMT). No. of bitstreams: 1 4526.pdf: 585067 bytes, checksum: cb0d25b2f356bbb59ad509d85a02d8a8 (MD5) Previous issue date: 2003 ßS-Globin haplotypes were studied in 80 (160 ßS chromosomes) sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The ßS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1%) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6%) as Benin (BEN), 1 (0.63%) as Senegal (SEN), and 9 (5.63%) as atypical (Atp). Genotype was CAR/CAR in 17 (21.3%) patients, BEN/BEN in 17 (21.3%), CAR/BEN in 37 (46.3%), BEN/SEN in 1 (1.25%), BEN/Atp in 1 (1.25%), CAR/Atp in 6 (7.5%), and Atp/Atp in 1 (1.25%). Hemoglobin concentrations and hematocrit values did not differ among genotype groups but were significantly higher in 25 patients presenting percent fetal hemoglobin (%HbF) ≥10% (P = 0.002 and 0.003, respectively). The median HbF concentration was 7.54 ± 4.342% for the CAR/CAR genotype, 9.88 ± 3.558% for the BEN/BEN genotype, 8.146 ± 4.631% for the CAR/ BEN genotype, and 4.180 ± 2.250% for the CAR/Atp genotype (P = 0.02), although 1 CAR/CAR individual presented an HbF concentration as high as 15%. In view of the ethnic and geographical origin of this population, we did not expect a Hardy-Weinberg equilibrium for CAR/CAR and BEN/BEN homozygous haplotypes and a high proportion of heterozygous CAR/BEN haplotypes since the State of Bahia historically received more slaves from Western Africa than from Central Africa.
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- 2003
22. Clinical & Laboratory Haematology
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Gonçalves, M. de Souza, Couto, Fábio David, Albuquerque, Arlete Barreto Lins de, Adorno, Elisângela Vitória, Moura Neto, José Pereira de, Abbehusen, Luciana de Freitas, Oliveira, J. L. B. de, and Reis, M. G. dos
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Hemoglobinopathies ,Pregnancy ,Hemoglobin C ,Thalassemia ,Hematologic parameters - Abstract
Texto completo: acesso restrito. p. 29–34 Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-01-14T14:54:10Z No. of bitstreams: 1 M. De Souza Gonçalves.pdf: 180756 bytes, checksum: 6cc9ee5e35c50e2b235bb71f10a968d5 (MD5) Made available in DSpace on 2014-01-14T14:54:10Z (GMT). No. of bitstreams: 1 M. De Souza Gonçalves.pdf: 180756 bytes, checksum: 6cc9ee5e35c50e2b235bb71f10a968d5 (MD5) Previous issue date: 2003 α-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. α-thalassemia-23.7kb (α-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women – 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were α-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal α genes and those with α-Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal α genes and α-Thal23.7kb carriers showed differences in MCV (P = 0.001); MCH (P = 0.003) and Hb C concentrations (P = 0.011). Analysis of AA and AC group patients with normal α genes showed differences in RBC (P = 0.033), Hb concentration (P = 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the α-Thal23.7kb genotype. The AC α-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns.
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- 2003
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23. Clinical and Laboratory Haematology
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Couto, Fábio David, Albuquerque, Arlete Barreto Lins de, Adorno, Elisângela Vitória, Moura Neto, José Pereira de, Abbehusen, Luciana de Freitas, Oliveira, J. L. B. de, Reis, M. G. dos, and Gonçalves, M. de Souza
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Hemoglobinopathies ,Pregnancy ,Hemoglobin C ,Thalassemia ,Hematologic parameters - Abstract
Texto Completo: acesso restrito. p. 29–34 Submitted by Reis Suelen (suelen_suzane@hotmail.com) on 2012-12-07T14:50:36Z No. of bitstreams: 1 j.1365-2257.2003.00487.x.pdf: 180756 bytes, checksum: 6cc9ee5e35c50e2b235bb71f10a968d5 (MD5) Made available in DSpace on 2012-12-07T14:50:36Z (GMT). No. of bitstreams: 1 j.1365-2257.2003.00487.x.pdf: 180756 bytes, checksum: 6cc9ee5e35c50e2b235bb71f10a968d5 (MD5) Previous issue date: 2003 a-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. a-thalassemia- 23.7kb (a-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women – 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were a-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal a genes and those with a-Thal23.7kb (P ¼ 0.031). Statistical analysis of AC group patients with normal a genes and a-Thal23.7kb carriers showed differences in MCV (P ¼ 0.001); MCH (P ¼ 0.003) and Hb C concentrations (P ¼ 0.011). Analysis of AA and AC group patients with normal a genes showed differences in RBC (P ¼ 0.033), Hb concentration (P ¼ 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the a-Thal23.7kb genotype. The AC a-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns. Keywords Hemoglobinopathies, hemoglobin C, pregnancy.
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- 2003
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24. Brazilian Journal of Medical and Biological Research
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Gonçalves, M. S., Queiroz, I. L., Cardoso, S. A., Zanetti, A., Strapazoni, A. C., Adorno, Elisângela Vitória, Albuquerque, Arlete Barreto Lins de, and Santana, Ademir Eugênio de
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vaso-occlusive crisis ,interleukin 8 ,sickle cell syndromes - Abstract
p. 1309-1313 Submitted by Suelen Reis (suelen_suzane@hotmail.com) on 2012-12-17T19:11:18Z No. of bitstreams: 1 4226.pdf: 152416 bytes, checksum: 512aa64419dd6e1503998984ac84211d (MD5) Made available in DSpace on 2012-12-17T19:11:18Z (GMT). No. of bitstreams: 1 4226.pdf: 152416 bytes, checksum: 512aa64419dd6e1503998984ac84211d (MD5) Previous issue date: 2001 Sickle cell disease has a worldwide distribution and is a public health problem in Brazil. Although vaso-occlusive crisis (VOC) is one of the most important clinical features of the disease, there are still several steps of its pathogenesis which are unknown. The increase of the chemotactic factor interleukin 8 (IL-8) has been reported to be involved in sickle cell disease crisis, but this has not been demonstrated conclusively. In the present study we analyzed serum IL-8 levels by ELISA and hematological parameters and hemoglobin patterns by standard techniques in 23 (21 SS and 2 SC) Brazilian patients with sickle cell syndromes during VOC caused by different inducing factors, 22 (21 SS and 1 SC) sickle cell patients out of crisis, and 11 healthy controls. Increased IL-8 levels were observed in 19 of 23 VOC patients (79.2%), 3 of them with more than 1,000 pg/ml. Seventeen of 22 (77.3%) non-crisis patients showed low IL-8 levels (less than 15 pg/ml). Healthy controls had low IL-8 levels. A significant difference in serum IL-8 levels was observed between crisis and non-crisis sickle cell patients (P
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- 2001
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25. Cytokine profiles in sickle cell anemia: Pathways to be unraveled
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Pitanga, Thassila Nogueira, primary, Vilas-Boas, Wendell, additional, Cerqueira, Bruno Antônio Veloso, additional, Seixas, Magda Oliveira, additional, Barbosa, Cynara Gomes, additional, Adorno, Elisângela Vitória, additional, and Goncalves, Marilda Souza, additional
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- 2013
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26. Sickle cell disease: Only one road, but different pathways for inflammation
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Vilas-Boas, Wendell, primary, Cerqueira, Bruno Antônio Veloso, additional, Pitanga, Thassila Nogueira, additional, Seixas, Magda Oliveira, additional, Menezes, Joelma, additional, Souza, Cyntia Cajado de, additional, Adorno, Elisângela Vitória, additional, and Goncalves, Marilda Souza, additional
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- 2012
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27. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
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Adorno, Elisângela Vitória, primary, Zanette, Ângela, additional, Lyra, Isa, additional, Seixas, Magda Oliveira, additional, Reis, Mitermayer Galvão, additional, and Gonçalves, Marilda Souza, additional
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- 2008
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28. The β‐Globin Gene Cluster Haplotypes in Sickle Cell Anemia Patients from Northeast Brazil: A Clinical and Molecular View
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Adorno, Elisângela Vitória, primary, Zanette, Ângela, additional, Lyra, Isa, additional, Souza, Cyntia Cajado, additional, Santos, Leandro Ferraz, additional, Menezes, Joelma Figueiredo, additional, Dupuit, Marie France, additional, Almeida, Mari Ney Tavares, additional, Reis, Mitermayer Galvão, additional, and Gonçalves, Marilda Souza, additional
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- 2004
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29. Avaliação da etiologia das infecções enteroparasitárias em diferentes grupos pediátricos e genotipagem de isolados de Giardia duodenalis
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Silva, Renata Kelly Novais Rodrigues, Teixeira, Márcia Cristina Aquino, Soares, Neci Matos, Adorno, Elisângela Vitória, and Oliveira, Ricardo Riccio
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Ciências da Saúde ,Giardia ,Parasitologia médica ,Helmintos - Abstract
Submitted by Pós graduação Farmácia (ppgfar@ufba.br) on 2017-05-30T20:09:49Z No. of bitstreams: 1 Dissertação_Renata Kelly N R Silva.pdf: 1992158 bytes, checksum: 31b040d0efc44acc04e5946c258375e9 (MD5) Approved for entry into archive by Patricia Barroso (pbarroso@ufba.br) on 2017-06-01T17:34:25Z (GMT) No. of bitstreams: 1 Dissertação_Renata Kelly N R Silva.pdf: 1992158 bytes, checksum: 31b040d0efc44acc04e5946c258375e9 (MD5) Made available in DSpace on 2017-06-01T17:34:25Z (GMT). No. of bitstreams: 1 Dissertação_Renata Kelly N R Silva.pdf: 1992158 bytes, checksum: 31b040d0efc44acc04e5946c258375e9 (MD5) CNPq / FAPESB A infecção por parasitos ocorre com maior frequência na população infantil e pode evoluir com gravidade em pacientes com alterações no sistema imunológico, como por exemplo, aqueles com desnutrição ou câncer. A Giardia duodenalis é o parasito mais frequente em crianças, causando infecções intestinais que variam de assintomáticas à presença de diarreia aguda ou crônica, sendo imprescindível que seu diagnóstico seja realizado corretamente. Entretanto, as técnicas diagnósticas mais sensíveis, também são as mais caras, sendo necessária uma análise mais detalhada do custo-benefício de sua utilização na rotina clínica. Além do diagnóstico de rotina, a caracterização molecular da Giardia contribui para um melhor entendimento da taxonomia, epidemiologia, potencial zoonótico de transmissão e associação entre o quadro clínico e um determinado genótipo (A H). Este estudo teve como objetivo avaliar a etiologia das infecções enteroparasitárias em diversos grupos pediátricos, utilizando diferentes técnicas de diagnóstico, e caracterizar os genótipos de Giardia duodenalis isolados de crianças de creche. Foram coletadas amostras fecais de 824 crianças: 70 de pacientes oncológicos, 110 internadas com desnutrição energéticoprotéica grave, 151 internadas devido à doença diarreica e 493 saudáveis atendidas em creches. As amostras foram submetidas às seguintes técnicas de diagnóstico: a) exame direto; b) Baermann-Moraes; c) cultura de fezes em placas de agar; d) Faust; e) sedimentação por centrifugação; g) coloração Ziehl-Nielsen modificado e h) pesquisa de coproantígenos de Cryptosporidium sp., Giardia duodenalis e Entamoeba histolytica por ELISA. Setenta e uma amostras fecais positivas para Giardia duodenalis oriundas das crianças de creche foram submetidas a genotipagem através da Reação em Cadeia da Polimerase (PCR), tendo como alvo os genes β-giardina e Gdh, seguida pela Análise do Polimorfismo do Fragmento de Restrição (RFLP). Dentre as 824 crianças, 30,3% estavam infectadas por pelo menos um parasito. As crianças com câncer apresentaram a maior ocorrência de enteroparasitos (47,1%), seguidas pelo grupo de creche (35,4%), crianças com diarreia (16,6%), e por último, crianças com desnutrição (15,5%). A Giardia duodenalis foi o parasito mais frequente (18,4%) e se destacou na população sem diarreia, enquanto o Cryptosporidium e a E. histolytica apresentaram associação significativa com o quadro de diarreia. Comparando as técnicas de diagnóstico para Giardia, utilizando como padrão de referência a positividade em pelo menos uma das técnicas, o ELISA se mostrou mais sensível que a microscopia (97% versus 55%). Dos 71 isolados de G. duodenalis de crianças de creche submetidos à PCR, 51 (77,4%) tiveram os DNAs amplificados. Foram identificados os genótipos AII, BIII, BIV e E, com predomínio do AII, sugerindo que a principal via de transmissão é antroponótica, seja pela ingestão de água ou alimentos contaminados com fezes humanas, ou através do contato pessoa a pessoa, uma vez que esse subtipo tem sido encontrado apenas em humanos. Parasitic infections occur most frequently in children and can lead to severe disease in patients with alterations in the immune system, such as those with malnutrition or cancer. Giardia duodenalis is the most frequent parasite in children, causing intestinal infections ranging from asymptomatic to the development of acute or chronic diarrhea, being essential the correct diagnosis of the parasite. However, the more sensitive diagnostic techniques are also the most expensive, requiring a detailed analysis of the cost-benefit of their use in clinical routine. In addition to the routine diagnosis, the molecular characterization of Giardia contributes to a better understanding of the taxonomy, epidemiology and zoonotic potential of transmission and clinical forms of infection associated to a specific genotype (A - H). This study aimed to evaluate the etiology of parasitic infections in pediatric groups, using different diagnostic techniques, and characterize the genotypes of Giardia duodenalis isolates from children attending day care centers. There were collected fecal samples from 824 children: 70 oncologic patients, 110 hospitalized with severe protein-energy malnutrition, 151 hospitalized due to diarrheic disease and 493 healthy day care children. The samples were subjected to the following diagnostic techniques: a) direct examination, b) Baermann-Moraes c) stool culture on agar plates d) Faust e) sedimentation by centrifugation; g) modified Ziehl-Nielsen staining h) search of coproantigens of Cryptosporidium sp., Giardia duodenalis and Entamoeba histolytica by ELISA. Seventy-one fecal samples positive for Giardia duodenalis from day care centers children were subjected to genotyping by polymerase chain reaction (PCR) of the target genes β-giardina and Gdh, followed by Analysis of Restriction Fragment Length Polymorphism (RFLP). Among the 824 children, 30.3% were infected with at least one parasite. Children with cancer had the highest frequency of intestinal parasites (47.1%), followed by the day care group (35.4%), children with diarrhea (16.6%), and those with malnutrition (15.5 %). The parasite Giardia duodenalis was the most frequent (18.4%) in stood of the population without diarrhea, while Cryptosporidium and E. histolytica were significantly associated with the diarrheic disease. Comparing the diagnostic techniques for Giardia using as reference standard the positivity in at least one technique, the ELISA was more highly sensitive than microscopy (97% versus 55%). Of the 71 isolates of G. duodenalis from day care children subjected to PCR, 51 (77.4%) had the DNAs amplified. There were identified genotypes IIA, BIII, BIV and E, with a predominance of the IIA, suggesting that the main route of transmission is anthroponotic, either by ingesting food or water contaminated with human feces, or through the contact person-to-person, since this subtype has been found only in humans.
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- 2013
30. Avaliação de métodos de diagnóstico laboratorial de coccídeos intestinais oportunistas e caracterização molecular das espécies de Cryptosporidium isoladas em amostras fecais
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Pacheco, Flávia Thamiris Figueiredo, Teixeira, Márcia Cristina Aquino, Soares, Neci Matos, Bello, Alexandre Ribeiro, and Adorno, Elisângela Vitória
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Ciências da Saúde ,PCR-RFLP ,Isospora belli ,Ziehl-Neelsen modificado ,Cryptosporidium ,ELISA - Abstract
Submitted by Pós graduação Farmácia (ppgfar@ufba.br) on 2017-05-30T20:39:16Z No. of bitstreams: 1 Flavia-Thamires -farmacia-final.pdf: 2671133 bytes, checksum: d04fe328ab695f2547b14e8d937e5959 (MD5) Approved for entry into archive by Patricia Barroso (pbarroso@ufba.br) on 2017-06-01T17:33:52Z (GMT) No. of bitstreams: 1 Flavia-Thamires -farmacia-final.pdf: 2671133 bytes, checksum: d04fe328ab695f2547b14e8d937e5959 (MD5) Made available in DSpace on 2017-06-01T17:33:52Z (GMT). No. of bitstreams: 1 Flavia-Thamires -farmacia-final.pdf: 2671133 bytes, checksum: d04fe328ab695f2547b14e8d937e5959 (MD5) FAPESB O diagnóstico dos coccídeos Cryptosporidium e Isospora belli é realizado principalmente pela pesquisa de oocistos em esfregaços fecais corados. Entretanto, não existe uma padronização na rotina laboratorial para a identificação microscópica desses coccídeos. O diagnóstico da Cryptosporidium pode também ser realizado pela detecção de coproantígenos por ensaio imunoenzimático (ELISA) ou pela amplificação do DNA através da reação em cadeia da polimerase (PCR), dispensando a identificação morfológica dos oocistos. Além disso, a análise do polimorfismo genético de fragmentos de restrição (PCR-RFLP) pode ser utilizada na caracterização das espécies de Cryptosporidium, permitindo um melhor entendimento da dinâmica da transmissão deste parasito. Os objetivos deste trabalho foram: (1) comparar as técnicas de concentração de formol-acetato de etila (FE) e sedimentação por centrifugação (SC), bem como as técnicas de coloração de Ziehl-Neelsen modificado (ZN), auramina (AR) e safranina (SF) na detecção de oocistos de Cryptosporidium e Isospora belli em amostras fecais; (2) comparar a microscopia com a pesquisa de coproantígeno para o diagnóstico de Cryptosporidium e avaliar os resultados discordantes utilizando a PCR e (3) caracterizar as espécies de Cryptosporidium de amostras fecais humanas, através da PCR-RFLP. Para comparação entre os métodos de concentração de oocistos, FE e SC, e as técnicas de coloração, ZN, AR e SF, foram utilizadas amostras fecais positivas para Cryptosporidium (n=27) e I. belli (n=15), conservadas em formalina a 10%. Os métodos foram avaliados quanto ao número de oocistos detectados e a qualidade microscópica dos esfregaços. Para comparação entre o método de ZN e ELISA para o diagnóstico de Cryptosporidium foram examinadas amostras fecais de 626 crianças de diferentes grupos. Posteriormente, todas as amostras positivas para Cryptosporidium obtidas no estudo, juntamente com outros isolados disponíveis no laboratório, foram submetidos à extração de DNA e análise por Nested-PCR/RFLP dos genes COWP e 18S rRNA, para determinação das espécies de Crptosporidium. Os métodos SC e ZN identificaram mais oocistos de ambos parasitos do que os demais métodos avaliados (p
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- 2013
31. Caracterização fenotípica e genotípica (FvW VNTR1, VNTR2 e VNTR3 intron 40) da Doença de Von Willebrand em indivíduos da Bahia
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Laranjeira, Débora Santana, Adorno, Elisângela Vitória, Moura Neto, José Pereira de, and Gonçalves, Marilda de Souza
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Ciências da Saúde ,Doença de von Willebrand ,Polimorfismo gênico ,Distúrbio hemorrágico ,Fator de von Willebrand - Abstract
Submitted by Pós graduação Farmácia (ppgfar@ufba.br) on 2017-05-25T20:42:38Z No. of bitstreams: 1 DeboraLaranjeira-FARM (2).pdf: 1061269 bytes, checksum: e1ef7b0f8c142f2f45803b7bdb0faaa0 (MD5) Approved for entry into archive by Patricia Barroso (pbarroso@ufba.br) on 2017-06-01T17:35:08Z (GMT) No. of bitstreams: 1 DeboraLaranjeira-FARM (2).pdf: 1061269 bytes, checksum: e1ef7b0f8c142f2f45803b7bdb0faaa0 (MD5) Made available in DSpace on 2017-06-01T17:35:08Z (GMT). No. of bitstreams: 1 DeboraLaranjeira-FARM (2).pdf: 1061269 bytes, checksum: e1ef7b0f8c142f2f45803b7bdb0faaa0 (MD5) CNPq e FAPESB A doença de von Willebrand (DvW) é o distúrbio hemorrágico hereditário mais comum descrito na literatura, sendo caracterizada pela deficiência nos níveis ou função do fator de von Willebrand (FvW). O gene FvW está localizado no cromossomo 12 e possui um número variável de repetições em tandem do tipo ATCT (VNTR)n no intron 40. O objetivo do estudo foi caracterizar fenotípica e genotipicamente a DvW em indivíduos de Salvador-Bahia. A casuística foi composta por 21 indivíduos com diagnóstico de DvW atendidos na Fundação HEMOBA e 69 indivíduos da população geral. As informações clínicas dos indivíduos foram obtidas em prontuários e/ou questionários epidemiológicos. A análise dos VNTRs do intron 40 foi realizada através da reação da polimerase em cadeia (PCR) e os fragmentos analisados por eletroforese capilar, em sequenciador automático (AppliedBio-Systems); os demais testes laboratoriais foram realizados em equipamentos automatizados, exceto o Ag:FvW que foi determinado por método imunológico. A análise estatística foi desenvolvida no programa EpiInfo versão 6.0 e GraphPad Prism 5.0. Os resultados demonstraram diferenças estatisticamente significativas entre os indivíduos com DvW e grupo controle para as concentrações do Ag:FvW (39,5% e 74,5%, respectivamente; p
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- 2012
32. Perfil clínico da Doença Falciforme: definição de subfenótipos clínicos e a influência do diagnóstico tardio, da aloimunização e do antígeno Duffy
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Zanette, Angela Maria Dias, Arruda, Sérgio Marcos, Adorno, Elisângela Vitória, Lyra, Isa Menezes, Matos, Marcos Antônio Almeida, Silva Neto, Marinho Marques da, and Romeo, Maura Alice Santos
- Subjects
Fenótipo ,Diagnóstico tardio ,Aloanticorpos ,Anemia falciforme ,Antígenos de grupos sanguíneos - Abstract
A doença falciforme (DF) é altamente prevalente na Bahia. Caracteriza-se pela presença da hemoglobina S, cuja polimerização intraeritrocitária oclui pequenos vasos e provoca hemólise crônica. Hemólise ou vasoclusão predominam nas apresentações clínicas e diagnóstico tardio é frequente.Transfundir hemácias pode ser indicado em eventos agudos ou complicações crônicas, porém aloimunização pode resultar das transfusões, representando risco para o paciente. O antígeno eritrocitário Duffy, receptor de quimiocinas, pode causar reações transfusionais e ser um possível marcador de variabilidade clínica. Haplótipos da globina beta e talassemia alfa são moduladores genéticos da clínica na DF. Objetivos: estimar a influência da aloimunização, diagnóstico tardio, fenótipo Duffy, haplótipos da globina beta e talassemia alfa na evolução clínica; conhecer a distribuição dos fenótipos hemolítico e vasoclusivo na DF. Métodos: trata-se de um estudo ambispectivo, desenvolvido em 2 fases: uma retrospectiva, com revisão de prontuários de 105 pacientes SS e 3 SC, receptores de transfusões entre 2004 e 2007, identificando-se clínica e aloimunização. Na segunda fase foram selecionados 109 pacientes SS, assintomáticos, sem intercorrências médicas ou transfusões recentes. Dados clínicos, laboratoriais, imunohematológicos, moleculares foram avaliados. Resultados: na primeira fase 56 pacientes desenvolveram aloimunização (51,8%), associada com idade mais baixa (p=0,041), gênero feminino (p=0,033) e autoimunização (p=0,0001). As principais indicações transfusionais foram anemia sintomática (73% ALO e 44,4% N-ALO), úlcera maleolar (13,5% ALO e 13,3% N-ALO) e crise dolorosa severa (13,5% ALO e 8,9% N-ALO). A primeira transfusão ocorreu antes dos 10 anos de idade em 45,4% dos casos. Aloanticorpos mais prevalentes foram anti-E, anti-K e anti-C (39,3%,21,4% e 16,1%, respectivamente). Poucos pacientes autoimunizados necessitaram tratamento imunossupressivo. Na fase prospectiva a média de idade ao diagnóstico foi 12,7±11,9 anos, sendo mais tardia no gênero feminino (15,9±12,0 anos, p=0,005).O fenótipo Duffy negativo, presente em 33,3% dos pacientes, e a hemoglobina acima de 8,0 g/dl foram preditivos para osteonecrose (p=0,002, OR=7,560, IC=2,064-27,690 e p=0,017, OR=4,618, IC=1,313-16,245, respectivamente). Prevaleceu o haplótipo BEN/CAR (51,2% dos casos), seguido do CAR/CAR (23,5%) e BEN/BEM (20,6%), tendo o CAR/CAR apresentado hemoglobina e hemoglobina fetal mais baixas (p=0,043 e 0,042, respectivamente). Talassemia alfa2 -3.7kb, pesquisada em 78 dos 109 pacientes, ocorreu em 29,5% desses, sendo que apenas a osteonecrose, mais frequente em pacientes com a mutação, tendeu `a significância estatística (p=0,055). O fenótipo clínico mais frequente foi o vasoclusão/hiperviscosidade, ocorrendo em 44,9% dos casos, seguido do hemolítico (38,5%). Em 16,5% dos pacientes não foi possível a classificação fenotípica, tratando-se de pacientes com curso clínico acentuadamente benigno. Conclusões: a aloimunização não impactou significativamente a evolução clínica, sendo associada com gênero feminino e autoimunização; diagnóstico tardio foi frequente, no início da adolescência, associado com acidente vascular encefálico, sequestro esplênico e aumento da bilirrubina indireta; prevaleceu o fenótipo vasoclusão/hiperviscosidade; o haplótipo da globina beta mais frequente foi o BEN/CAR, não havendo influência importante sobre a evolução clínica; houve tendência de associação da talassemia alfa com osteonecrose; fenótipo Duffy negativo e hemoglobina acima de 8,0 g/dl foram preditivos para osteonecrose.
- Published
- 2011
33. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.
- Author
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Adorno EV, Zanette A, Lyra I, Souza CC, Santos LF, Menezes JF, Dupuit MF, Almeida MN, Reis MG, and Gonçalves MS
- Subjects
- Anemia, Sickle Cell blood, Anemia, Sickle Cell pathology, Brazil, Chromatography, High Pressure Liquid, Fetal Hemoglobin analysis, Fetal Hemoglobin genetics, Genotype, Globins analysis, Hemoglobins, Abnormal analysis, Hemoglobins, Abnormal genetics, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Anemia, Sickle Cell genetics, Globins genetics, Haplotypes genetics, Multigene Family genetics
- Abstract
The beta(S)-globin haplotypes were studied in 78 sickle cell Brazilian patients from Bahia, Northeast Brazil, that has a large population of African origin. Hemoglobin (Hb) profiles were developed by high-performance liquid chromatography (HPLC), and beta(S)-globin gene haplotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. We identified 44 (55.0%) patients with the CAR/Ben (Central African Republic/Benin) genotype, 16 (20.0%) Ben/Ben, 13 (16.2%) CAR/CAR and seven (8.8%) with other genotypes. Analyses of the phenotypes showed clinical differences related only to Hb F levels and blood transfusion therapy; the presence of -alpha(-3.7)-thalassemia (thal) demonstrated statistical significance when associated with hematocrit (p=0.044), MCV (p=0.0007), MCH (p=0.012) and spleen sequestration events. The haplotype diversity found in the present study can be justified by information about the origin of the slave traffic period in Bahia during the 19th century. The specific characteristics described among the Bahian sickle cell patients could be confirmed by increasing the number of patients with specific genotypes and further studies of genetic markers.
- Published
- 2004
- Full Text
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