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7. Sickle Cell Disease and Gut Health: The Influence of Intestinal Parasites and the Microbiome on Angolan Children.

Author

Delgadinho, Mariana, Ginete, Catarina, Santos, Brígida, de Vasconcelos, Jocelyne Neto, Arez, Ana Paula, and Brito, Miguel

Subjects
SICKLE cell anemia, INTESTINAL parasites, GUT microbiome, ASCARIS lumbricoides, PARASITIC diseases, GIARDIA lamblia, BACTERIAL communities
Abstract

Parasitic infections are a common problem in developing countries and can intensify morbidity in patients with sickle cell disease (SCD), increasing the severity of anemia and the need for transfusions. It has been demonstrated that both helminths and protozoa can affect gut microbiome composition. On the other hand, the presence of specific bacterial communities can also influence parasite establishment. Considering this, our aim was to associate the presence of intestinal parasites with the results of hematological analyses and microbiome composition evaluations in a population of Angolan children with and without SCD. A total of 113 stool samples were collected, and gut microbiome analysis was performed using 16S sequencing and real-time PCR to detect eight different intestinal parasites. In our population, more than half of children (55%) had at least one parasitic infection, and of these, 43% were co-infected. Giardia intestinalis and Ascaris lumbricoides were more frequently found in children from the rural area of Bengo. Moreover, SCD children with ascariasis exhibited higher values of leukocytes and neutrophils, whereas the total hemoglobin levels were lower. In regards to the gut microbiome, the presence of intestinal parasites lowered the prevalence of some beneficial bacteria, namely: Lactobacillus, Bifidobacterium, Cuneatibacter, Bacteroides uniformis, Roseburia, and Shuttleworthia. This study presents the prevalence of several intestinal parasites in a high-risk transmission area with scarce information and opens new perspectives for understanding the interaction between parasites, the microbiome, and SCD. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children.

Author

Ginete, Catarina, Delgadinho, Mariana, Santos, Brígida, Miranda, Armandina, Silva, Carina, Guerreiro, Paulo, Chimusa, Emile R., and Brito, Miguel

Subjects
SICKLE cell anemia, PHENOTYPES, FETAL hemoglobin, SINGLE nucleotide polymorphisms, PHENOTYPIC plasticity, NUCLEOTIDE sequencing
Abstract

The aim of this study was to identify genetic markers in the HBB Cluster; HBS1L-MYB intergenic region; and BCL11A, KLF1, FOX3, and ZBTB7A genes associated with the heterogeneous phenotypes of Sickle Cell Anemia (SCA) using next-generation sequencing, as well as to assess their influence and prevalence in an Angolan population. Hematological, biochemical, and clinical data were considered to determine patients' severity phenotypes. Samples from 192 patients were sequenced, and 5,019,378 variants of high quality were registered. A catalog of candidate modifier genes that clustered in pathophysiological pathways important for SCA was generated, and candidate genes associated with increasing vaso-occlusive crises (VOC) and with lower fetal hemoglobin (HbF) were identified. These data support the polygenic view of the genetic architecture of SCA phenotypic variability. Two single nucleotide polymorphisms in the intronic region of 2q16.1, harboring the BCL11A gene, are genome-wide and significantly associated with decreasing HbF. A set of variants was identified to nominally be associated with increasing VOC and are potential genetic modifiers harboring phenotypic variation among patients. To the best of our knowledge, this is the first investigation of clinical variation in SCA in Angola using a well-customized and targeted sequencing approach. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Teoria e Prática Multidisciplinar em Saúde - Volume 3

Author

MENESES, Marcela Beatriz Botelho, primary, CAMPELO, Eloina Hadigyna Leite Sousa, additional, ROCHA, Antônia J P, additional, MELO, Zilma N de, additional, MELO, Eveny S, additional, RODRIGUES, Karina dos S, additional, SOUSA, Marília da S, additional, OLIVEIRA, Lairton B de, additional, GUEDES, Raíssa F, additional, GUEDES, Ravena F, additional, SILVA, Cássia B, additional, M JUNIOR, Antônio A N, additional, SILVA, Eliakim A da, additional, SANTOS, Beatriz G F dos, additional, SOUSA, João B de C, additional, BARROS, Kamilla A dos S, additional, CAMPELO, Lany L de C R, additional, ALENCAR, Rayane da S, additional, SOARES, Raynnã da S, additional, MINEIRO, Ana L B B, additional, SOUSA, Maria V A de, additional, ALMEIDA, Lynlanda M C de, additional, BRITO, Maria I, additional, SOUSA, Luis F A, additional, PEREIRA, Amanda L N, additional, GUIMARÃES, Milena B, additional, SOUSA, Antonio M B de, additional, AGUIAR, Leiliane C de, additional, LIMA, Cleison B M, additional, RODRIGUES, Lauanne C, additional, MACHADO, Maria das G da S, additional, SILVA, Viviane O da, additional, CABRAL, Nithelly O, additional, CARVALHO, Amanda A M de, additional, CABRAL, Natália de S, additional, SILVA, Maria A F da, additional, LIMA, Iasmim M, additional, CABRAL, Maria F de S O, additional, LIMA, Ana R N, additional, LIMA, Monica N de, additional, BRITO, Rayane M, additional, SOUZA, Francisca T P de, additional, SOUSA, Francisca C de, additional, ARAÚJO, Laíme A N de, additional, SILVA, Danielle P da, additional, L, Larissa da S, additional, ALMEIDA, Márcio A de, additional, P JÚNIOR, Murilo R, additional, LUCENA, Valéria G, additional, ROCHA, Tainá A, additional, CAROLINO, Paula H F, additional, LEAL, Nara M P, additional, MARTINS, Francisco O da S, additional, RAMOS, Maria A de S, additional, NASCIMENTO, Maria D A do, additional, CABRAL, Natalia de S, additional, OLIVEIRA, Josiane da S, additional, LIMA, Mônica N de, additional, SILVA, Maria J da, additional, SOUZA, Francisca F P de, additional, ARAÚJO, Laime A M de, additional, LANDIM, Larissa da S, additional, P JUNIOR, Murilo R, additional, LUCENA, Valéria G de, additional, CAROLINO, Paula H de F, additional, LIMA, Lívia M S, additional, LOPES, Everton M, additional, MORENO, Lina Clara Gayoso e Almendra Ibiapina, additional, SILVA, Mara R de Sousa, additional, BEZERRA, Thálisson W de Andrade, additional, LIMA, Tayane A, additional, LEMOS, Matheus F de Magalhães, additional, SANTANA, Tamires de Sousa, additional, GUIMARÃES, Milenna B, additional, OLIVEIRA, Edjôfre C, additional, NUNES, Ana Ignez B Lima, additional, MOURA, Antônia M A de, additional, SILVA, Davi da, additional, CARVALHO, Hanny de, additional, SILVA, Roniel B da, additional, SANTOS, Sávia R R da Costa, additional, MELO, Antonia T B de, additional, ALCÂNTARA, Priscila L, additional, SILVA, João B de Carvalho, additional, BARROS, Kamilla A dos Santos, additional, A JÚNIOR, José S, additional, CAMPELO, Lany L de Castro R, additional, SILVA, Mariana R, additional, RIPARDO, Maynara L, additional, ALMEIDA, Lyrlanda M C de, additional, NASCIMENTO, Leniane da C, additional, SOUZA, Isadora L de, additional, GOMES, Francisco M A, additional, SAMPAIO, Ana C A, additional, ALENCAR, Darla A, additional, RÊGO, Maria C do, additional, SOUSA, Lourranne R de, additional, LEITE, Airton C, additional, FERNANDES, Ana Maria de M, additional, ALMEIDA, Danielle de Sousa, additional, NASCIMENTO, Gabriela E P do, additional, CASTRO, Matheus F de, additional, BONFIM, Marianne R, additional, ANDRADE, Tércio M de, additional, SILVA, Cristiele R da, additional, REIS, Cinthia M dos, additional, GONÇALVES, Ludmila O, additional, BARROS, Cassandra M A R, additional, MACHADO, Maria das G da Silva, additional, SILVA, Ana B C da, additional, SOUZA, Antonia K Damasceno, additional, REIS, Gisele K B C, additional, SOUZA, Thamires G de, additional, LUZ, Alessandra G da, additional, BEZERRA, Lorena L C Q, additional, CORREIA, Wanderlane S, additional, SOUSA, Fátima Regina Nunes de, additional, GUIMARÃES, Larissa A, additional, SILVA, Jodonai B da, additional, D’ASSUNÇÃO, Nathália C L, additional, MOREIRA, Gabriela R, additional, LIMA, Beatriz F L de, additional, FONSECA, João Rafael da Silva, additional, SOUSA, Kalleny S, additional, CHAVES, Rosiene B, additional, FIGUEREIDO, Jessianny M F, additional, SILVA, Anniely P de Sousa, additional, PIAUÍ, Iamilly S, additional, SILVA, Samuel L da, additional, SILVA, Mara E de Sousa, additional, SILVA, Geycilane S da, additional, SILVA, Rafael R C P da, additional, CARDOSO, Hyago A, additional, SOUSA, Thaysla de O, additional, SOUSA, Juliana do N, additional, RODRIGUES, Gabriela M de S, additional, MENDES, Pedro H M, additional, FIGUEIREDO, Iaggo H de S, additional, MOURA, Jaciara P de, additional, GOMES, Emanuelle da C, additional, NASCIMENTO, Maria L M do, additional, SOUSA, Miriam E M de, additional, SANTOS, Franciane C dos, additional, LIRA, Jefferson A C, additional, FAGUNDES, Glaucia B, additional, GALENO, Lygia S, additional, SILVA, Thiago V, additional, COSTA, Tairine M, additional, SOUSA, Duan K T de, additional, BRITO, Mariana C, additional, NUNES, Marllos H V, additional, ANDRADE, Amanda da C, additional, MELO, Alex C de, additional, RODRIGUES, Aline M D, additional, SILVA, Andrezza C A da, additional, LIMA, Oriana B, additional, MOTA, Carlos A A da, additional, SOUZA, Fabiana M de, additional, LOPES, Giovana C M, additional, MARTINS, Maria Y P, additional, GONÇALVES, Deysilane dos Santos, additional, SIMPLÍCIO, Antonio R G, additional, SOUSA, Antônio M B de, additional, FROTA, Bruno A, additional, ALVES, Deidiane M, additional, PRADO, Isabelly L G A, additional, LOPES, Lui D P, additional, LOPES, Monyque Y A, additional, MARTINS, Andressa R V, additional, NASCIMENTO, Mariana S, additional, COSTA, Izolda S, additional, B JÚNIOR, Nilson J P, additional, COSTA, Sueli S, additional, MESQUITA, Natália L, additional, CARVALHO, Renato K P, additional, FÉ, Thatielly R M, additional, SOUSA, Rafaela R, additional, CARVALHO, Raiany Aell S, additional, SANTOS, Raimunda N F, additional, FERNANDES, Luana G S, additional, CARVALHO, Amanda P S, additional, SILVA, Verbênia C F, additional, SANTOS, Lidyane R O, additional, SILVA, Pedro H F, additional, DAMASCENO, Tuanny C M, additional, SOUSA, Jackson L M de, additional, OLIVEIRA, Marlene S de, additional, MOTA, Daniele B, additional, TEIXEIRA, Letícia A S, additional, SANTANA, Misael das V, additional, CORDEIRO, Maria L L, additional, AMORIM, Nayla M S R, additional, SANTOS, Leidiane S, additional, PEREIRA, Irley M, additional, NUNES, Gladiane dos S, additional, SANTOS, Maykon M dos, additional, OLIVEIRA, Maria S, additional, BATISTA, Joilson F, additional, MINEIRO, Ana Lys B B, additional, PEREIRA, Antonia S de Matos, additional, NUNES, Fernanda T, additional, CAVALCANTE, Sávilla R L, additional, ROCHA, Nayara L, additional, BESSA, Maria E P, additional, VASCONCELOS, Layse F Q, additional, SOUSA, Francisco W M de, additional, DIAS, Luiza J L F, additional, MUNIZ, Cristhian F F, additional, X NETO, Francisco R G, additional, SILVA, Hevellyn E P, additional, PIRES, Rômulo C R, additional, SILVA, Vanalda C, additional, REINERT, Ana P R P, additional, SANTOS, Aline V C, additional, BARROSO, Ana K D, additional, SAMPAIO, Ingrid K O, additional, FARIAS, Júlia G, additional, RABELO, Francilene M, additional, SEREJO, Jennifer D, additional, ALVES, Vitória C P, additional, LIRA, Álvaro H A, additional, REIS, Flávia H C S, additional, CORDEIRO, Hyago H B, additional, SANTOS, Aldaisa P dos, additional, SILVA, Nayra J da, additional, CONCEIÇÃO, Hayla N da, additional, ROCHA, Alessandra L, additional, ALCÂNTARA, Ana R F, additional, V FILHO, José O, additional, LIMA, Bruna A, additional, CARVALHO, Girleda A, additional, SILVA, Jáyna R E Da, additional, SILVA, Felipe B M Da, additional, VIEIRA, Ataíde L, additional, MOURA, Lidiane A, additional, SOUSA, Aucilene M C de, additional, GONÇALVES, Cláudio F G, additional, SILVA, Rosely M, additional, ALMEIDA, Lucas G M de, additional, LIMA, Adonize L, additional, FEITOSA, Sidiney A S, additional, ALCÂNTARA, Iraneide S de, additional, SILVA, Raiane de S, additional, SILVA, Denise R da, additional, LAGO, Roseany B M, additional, CASTRO, Ana C R de, additional, SILVA, Mauricélia de S, additional, SILVA, Willas R da, additional, LIMA, Kalyane da S, additional, SOUSA, Mauricelia P de, additional, SALES, Leticia de D da S, additional, SILVA, Naiane de S, additional, SOARES, Keciane B, additional, PEREIRA, Fernando A, additional, NASCIMENTO, Eliane C do, additional, CARVALHO, Amanda P de S, additional, FÉ, Thatielly R de Morais, additional, VELOSO, Reijane de A, additional, XERES, Nayana de P F, additional, SILVA, Juciene M P e, additional, NEVES, Thereza E C, additional, BARROS, Lidiane A A, additional, MARTINIANO, Francisca G S, additional, SILVA, Celina J C, additional, V, Anailda F, additional, OLIVEIRA, Brena K V, additional, AGUIAR, Camila R de, additional, VASCONCELOS, Géssica N M, additional, LIMA, Elane C F, additional, VASCONCELOS, Francisco J, additional, MESQUITA, Francisca D S, additional, SOUSA, Igor C R, additional, SOUSA, Carlyne A de, additional, ALMEIDA, Quiriane M, additional, NASCIMENTO, Dayana M, additional, ALENCAR, Dalvan F, additional, SILVA, Andrezza C A, additional, ARAÚJO, Lilian L, additional, MORAES, Igor F, additional, X NETO, Francisco R, additional, REIS, Leonilson N dos, additional, SOUSA, Ernando S de, additional, SILVA, Vanessa B da, additional, NOLÊTO, Assuscena C, additional, FARIAS, Micaele L da S, additional, FREITAS, Cleidiomar da C S, additional, SANTOS, Brígida M dos, additional, LEAL, Juliete de S, additional, SOUSA, Jailson P de, additional, SILVA, Josiane A da, additional, LIRA, Ieda M de A, additional, SILVA, Nadiana V, additional, ALBUQUERQUE, Eysland L F de, additional, VIEIRA, Francineide D, additional, A FILHO, Pedro F dos, additional, NEVES, Nisleide V P das, additional, RODRIGUES, Tatyanne S, additional, MOURA, Maynara da S, additional, LEITE, Jaylla de M B, additional, MOURA, Roseane L, additional, MOURA, Karine R de, additional, CARVALHO, Gerdane C N, additional, SILVA, Janicélia A da, additional, MOTA, Wesley R, additional, SILVA, Nadja B, additional, SILVA JÚNIOR, Jussival de M, additional, SILVA, Estela dos S, additional, AGUIAR, Taline O, additional, FARIAS, Márcia P O, additional, CHAVES, Cândida B M B, additional, LIMA, Mikaele O, additional, SOUSA, Aucilene M C, additional, ALMEIDA, Lucas G M, additional, COSTA, Renato B, additional, FARIAS, Paulo V F de, additional, MARTINS, Cláudia F N, additional, SANTOS, Isabele A L M, additional, SANTOS, Luiza S, additional, CAMPOS, Tais de S, additional, CAVALCANTI, Katrine B, additional, LUZ, Ellen B A L, additional, SANTOS, Leidiane dos, additional, CAMPELO, Luana T M, additional, NASCIMENTO, Adelany de Alcântara, additional, BRITO, Djiulyanne K C M, additional, MELO, Raimundo N de Vera Cruz, additional, NASCIMENTO, Alielson A, additional, BEZERRA, Alessandra K F, additional, OLIVEIRA, Carlos A F, additional, COSTA, Bruno V P, additional, COELHO, Keyla M G M, additional, SOUSA, Marilia da S, additional, NASCIMENTO, Dayana M do, additional, OLIVEIRA, Fernanda P de, additional, SIQUEIRA, Maria J F, additional, COELHO, Márcia G M, additional, VASCONCELOS, Luiz V C, additional, AMORIM, Rosendo F de, additional, CARVALHO, Lucas H S, additional, NUNES, Fabrícia da S, additional, ALMEIDA, Ana C V de, additional, M JUNIOR, Claumir G, additional, LIMA, Ester C de, additional, MORAIS, Izabela M de O, additional, LEITE, Cristina L, additional, FARIAS, Paulo Victor F de, additional, OLIVEIRA, Luana P de, additional, NUNES, Alysson L, additional, BELFORT, João A, additional, ALMEIDA, Ana Clara V de, additional, ALENCAR, Pedro Henrique R, additional, QUEIROZ, Patrícia dos Santos S, additional, PIRES, Romulo C R, additional, SILVA, Thiago P, additional, REIS, Flavia H C S, additional, LOPES, Élida M dos S, additional, CARDOSO, Allana L F, additional, SILVA, Debora M da, additional, PEREIRA, Andréa D, additional, SILVA, Vinicius A N, additional, SOUZA, Sind S P, additional, SILVA, Leticia S P, additional, MELO, Emanuely N, additional, LIMA, Bárbara V A, additional, VASCONCELOS, Francisca H B, additional, MEDEIROS, Amanda de Oliveira F, additional, VASCONCELOS, Anailda F, additional, LIMA, Vitória C, additional, COSTA, Fernanda de L, additional, ANDRADE, Raimundo W L de, additional, ALVES, Ingrid C A, additional, GONÇALVES, Isabela C A, additional, ARAÚJO, Lilian L de, additional, ANDRADE, Amanda C, additional, JACOBINA, Flaviane R, additional, MACHADO JÚNIOR, Antônio A N, additional, SILVA, Joanna D Almondes da, additional, GONÇALVES, Larissa M F, additional, SILVA, Géssyca S T da, additional, SANTOS, Juanna D F dos, additional, RIBEIRO, Helga G de S, additional, SOARES, Érica C, additional, SANTOS, Fernanda A B dos, additional, MACHADO, Felicianna C F, additional, S JÚNIOR, Jussival de M, additional, DIAS, Marilene P, additional, AGUIAR, Antônia T O, additional, REIS, Claudionor A, additional, MIRANDA, Gabrielle Da S, additional, SILVA, Keytte Fernanda V, additional, MENESES, Marcela B B, additional, SILVA, Girlene C M, additional, PORTO, Rayllene B, additional, LIRA, Rayssa F P S, additional, SILVA, Raimunda S, additional, FONSECA, Marcos V S, additional, SANTOS, Adriana N, additional, SANTOS, Ana Caroline Chaves dos, additional, NASCIMENTO, Maria de Fátima M, additional, and RIBEIRO, Marcelo A, additional

Published
2020
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13. ACOLHIMENTO DO ENFERMEIRO A MULHER VÍTIMA DE VIOLÊNCIA: REVISÃO INTEGRATIVA

Author

Reis, Luzia Neri dos, primary, Reis, Leonilson Neri dos, additional, Sousa, Ernando Silva de, additional, Viana, Isabel Luísa Rodrigues de Sousa, additional, Silva, Juliana Falcão da, additional, Lima, Jucélia de Brito, additional, Miranda, Lindamaria de Oliveira, additional, Sousa, Jailson Pereira de, additional, Gomes, Priscila Geise, additional, Silva, Erinalva de Araújo, additional, Santos, Brígida Mendes dos, additional, Freitas, Cleidiomar da Conceição Sousa, additional, Sousa, Ana Carolina Amorim de, additional, Silva, Naiane de Sousa, additional, and Maia, Sayonnara Ferreira, additional

Published
2019
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19. Avaliação clínica da resposta ao tratamento com Hidroxiureia em crianças com Anemia de Células Falciformes em Angola

Author

Santos, Brígida, Miranda, Armandina, Ginete, Catarina, Arez, Ana Paula, Faustino, Paula, and Brito, Miguel

Subjects
Anemia das Células Falciformes, Hemoglobina Fetal, Modificadores genéticos, Angola, Drepanocitose, Doenças Genéticas
Abstract

Resumo publicado em: XII Jornadas Científicas do IHMT: livro de resumos, p. 13. http://ihmtweb.ihmt.unl.pt/Download/JornadasCientificas/XII/Livro-de-resumos_v4.pdf Introdução: A Anemia de Células Falciformes (ACF) é uma doença genética causada por uma mutação na cadeia beta globina da hemoglobina, dando origem à hemoglobina S. É caracterizada por fenómenos vaso-oclusivos e hemólise crónica. A hemoglobina fetal (HbF) é o modificador central da doença e é passível de manipulação terapêutica. A Hidroxiureia (HU) é o único fármaco aprovado para indução de HbF em pacientes com ACF. Contudo, alguns estudos mostraram que as respostas individuais ao tratamento com HU são muito variáveis. O objectivo deste estudo é a avaliação da eficácia do tratamento com HU em crianças angolanas com ACF. Será feita a apresentação preliminar de dadosde 6 meses de tratamento com HU.Métodos: O estudo incluiu143 crianças dos 3 aos 12 anos de idade, com o diagnóstico de ACF medicadas com HU na dose de 20mg/kg/dia. O seguimento clínico foi feito mensalmente e incluiu o registo de intercorrências, exame físico, avaliação hematológica e dos parâmetros bioquímicos para estudo da hemólise e da toxicidade atribuída à HU. A HbF foi quantificada em estado basal e ao 6⁰ mês de tratamento. Resultados: Comparativamente à fase antes do tratamento e a avaliação feita ao 6⁰ mês de tratamento houve redução de: (1) frequência de episódios de crises dolorosas (59 vs 25), (2) número de transfusões (16 vs 4), (3) número de internamentos (12 vs 3). Uma criança teve recorrência de AVC no 2⁰mês e outra teve necrose asséptica da cabeça do fémur ao 5⁰mês de tratamento. O valor médio da hemoglobina (g/dl) variou de 7,5 para 8,1 (valor mínimo 5,2 e máximo 10,1 vs valor mínimo 5,8 e máximo 10,7). Em 56,1% dos pacientes houve aumento da HbF com valores médios de 5,7% emestado basal e 12,4% ao 6⁰mês de tratamento. Contudo em 12,9% dos pacientes não houve variação da % da HbF e em 30,9% das crianças o aumento da HbF foi inferior a 3% do valor da HbF basal.Na análise dos parâmetros de hemólise o valor percentual médiodos reticulócitosdecresceu de 10,1 para 6,57%, a bilirrubina indirecta (mg/dl) variou de 1,19 para 0,52. A desidrogenase láctea (U/L) não teve variação nos valores médios embora o valor máximo tenha decrescidode 1230 para 1067 e o valor mínimo de 115,1 para 106,3U/L. Não foram registados efeitos secundários importantes relacionados à HU.Conclusão: A HU teve eficácia clínica na maioria dos pacientes evidenciada pelos parâmetros clínicos e laboratoriais. Para além disso, foi demonstrada variabilidade na resposta à terapêutica pelo que está em curso a identificação de polimorfismos associados a essa variabilidade. Parcialmente financiado por FCT/Aga Khan Dev. Network, #330842553 info:eu-repo/semantics/publishedVersion

Published
2021

20. Modificadores Genéticos da Anemia de Células Falciformes em Crianças Angolanas

Author

Santos, Brígida, Delgadinho, Mariana, Ginete, Catarina, Ferreira, Joana, Arez, Ana Paula, Faustino, Paula, and Brito, Miguel

Subjects
Anemia das Células Falciformes, Alfa-talassémia, Angola, Drepanocitose, Modificadores Genéticos, Doenças Genéticas
Abstract

A anemia de células falciformes (ACF) é uma doença monogênica autossómica recessiva que afecta anualmente mais de 300.000 crianças em todo o mundo sendo particularmente prevalente na África subsariana. Em Angola a prevalência é de 2,4%. As manifestações clínicas são muito heterogénias com gravidade variável entre os pacientes, influenciada por factores ambientais e genéticos. O objectivo deste estudo foi investigar modificadores genéticos da ACF em Angola. Duzentas crianças com o diagnóstico de ACF foram seleccionadas para a caracterização clínica e foi obtida uma amostra de sangue para a quantificação da hemoglobina fetal, índices hematológicos, genotipagem da delecção alfa-talassémia de 3.7kb por GAP-PCR e determinação dos haplótipos no locus da beta-globina usando NGS. A delecção alfa-talassémia em homogozigotia foi de 12,5% e de 55 % em heterozigotia. O haplótipo CAR foi o mais comum, sendo CAR/CAR mais prevalente (92,15%). A hemoglobina fetal teve significância estatística entre os haplótipos. A presença da delecção da alfa-talassémia e a hemoglobina fetal tiveram influência na idade da primeira manifestação da doença, nos eventos clínicos, nos valores hematológicos e na taxa de hemólise observada pelo número reduzido na contagem de reticulócitos. Este estudo fornece uma contribuição relevante para o conhecimento genético dos pacientes com ACF em Angola importante para a prática clínica personalizada. info:eu-repo/semantics/publishedVersion

Published
2021

21. Biomarcadores e moduladores genéticos da Anemia Falciforme numa coorte de crianças Angolanas com Anemia Falciforme

Author

Santos, Brígida, Germano, Isabel, Delgadinho, Mariana, Ginete, Catarina, Arez, Ana Paula, Faustino, Paula, and Brito, Miguel

Subjects
Anemia das Células Falciformes, Biomarcadores, Modificadores genéticos, Angola, Drepanocitose, Hemoglobinopatias, Doenças Genéticas
Abstract

A anemia falciforme é uma doença monogénica autossómica recessiva com grande variabilidade fenotípica e é influenciada por factores ambientais e genéticos. A doença é caracterizada por episódios vaso-oclusivos recorrentes, hemólise crónica e susceptibilidade a infecções. Objectivos: Avaliar a correlação clínica e laboratorial com polimorfismos genéticos em crianças angolanas com anemia falciforme. Métodos: Foram seleccionadas 200 crianças com anemia falciforme seguidas no Hospital Pediátrico David Bernardino (Luanda) e no Hospital Geral do Bengo. A cada criança foi feita a caracterização clínica e laboratorial (hemograma, contagem de reticulócitos, desidrogenase láctea, bilirrubinas e doseamento da hemoglobina fetal). A análise genética incluiu a identificação de Haplótipos cuja classificação foi baseada em quatro SNPs descritas anteriormente (rs3834466, rs28440105, rs10128556 e rs968857), polimorfismos nos genes HBG2 (rs7482144), BCL11A (rs4671393), HBS1L-MYB (rs28384513, rs4895441) e correlacionados com a quantificação de HbF e à variabilidade fenotípica, Os polimorfismos nos genes VCAM1, NOS3 e CD36 foram correlacionados com os biomarcadores de hemólise. A análise estatistica foi feita pelo teste ANOVA (valor de P

Published
2020

23. The role of alpha-thalassemia in Sickle Cell Disease phenotype in Angolan pediatric patients

Author

Brito, Miguel, Santos, Brígida, Delgadinho, Mariana, Panzo, Miguel, Catumbela, Lucas, Salvador, Graciete, Valentim, Isabel, Zagi, Félix, Silva, Fátima, Germano, Isabel, Miranda, Armandina, Arez, Ana Paula, and Faustino, Paula

Subjects
Alfa-talassémia, Angola, Sicke Cell Disease, Anemias Hereditárias, Drepanocitose, Alpha thalassemia, Hemoglobinopatias, Doenças Genéticas
Abstract

publicado em: Journal of Sickle cell Disease and Hemoglobinopathies. 2020 Jun 12;7:40. Sickle cell disease is a monogenic disease with early onset manifestations that begin in childhood and is characterized by high clinical heterogeneity, being influenced by genetic and environmental factors. Among disease modulators fetal hemoglobin and alpha thalassemia are among the most important. There is little data on these factors in sickle cell disease patients from Africa and none from Angola where the prevalence of the disease is very high. The aim of this study was to explore the possible association between alpha thalassemia, Fetal hemoglobin, hematological indices and clinical events in Angolan sickle cell disease Hydroxyurea-naïve pediatric patients. This cross-sectional study is part of a large study in an Angolan sickle cell disease cohort conducted in the Hospital Pediátrico David Bernardino in Luanda and in Hospital Geral do Bengo in Caxito. Sampling was performed between April and August 2019. A total of 200 sickle cell disease children were included, after guardian informed consent, being 51,5% females. A venous blood sample was collected from each participant and used for hematological analyses, electrophoresis for diagnosis confirmation, Fetal hemoglobin quantification by HPLC (Bio-Rad variant II). DNA isolation was done by Qiagen blood mini kit, and the 3.7 kb alpha thalassemia deletion was studied by GAP-PCR. ANOVA, non-parametric tests and Chi-square tests were applied to compare the means, medians or frequencies between the three alpha thalassemia genotypes. P-value

Published
2020

24. Caracterização de um coorte de crianças com anemia de células falciformes em Angola

Author

Santos, Brígida, Jeremias, Ilda, Panzo, Miguel, Catumbela, Lucas, salvador, Graciete, Valentim, Isabel, Zagi, Félix, Germano, Isabel, Faustino, Paula, Arez, Ana Paula, Delgadinho, Mariana, and Brito, Miguel

Subjects
Anemia das Células Falciformes, África, Angola, Genética Humana, Drepanocitose, Malária, Hemoglobinopatias, Modificadores Genéticos, Doenças Genéticas
Abstract

A proposta central deste trabalho consiste no estudo da resposta à terapêutica com Hidroxiureia (HU) em crianças com Anemia de Células Falciformes (ACF), num contexto onde a malária é endémica (Angola), através da análise longitudinal dos fenótipos clínicos, hematológicos e bioquímicos (incluindo o nível de hemoglobina fetal - HbF), da caracterização de factores genéticos modificadores e das suas possíveis interações com a infeção malárica. Encontram-se em seguimento 200 crianças com ACF seguidas no HPDB e no Hospital Geral do Bengo. Dos 200 participantes 83% tiveram episódios de internamento, sendo as principais causas a anemia grave (63%) e as crises dolorosas (45%). Cerca de 50% dos pacientes apresentavam malnutrição crónica (HAZ) Os nossos resultados até ao presente já permitiram observar que o nível de HbF e a presença da deleção alfa-talassémica de 3,7 kb são factores protectores para a gravidade da doença, estando associados a um número mais reduzido de hospitalizações e de transfusões. Fundação para a Ciência e a Tecnologia (FCT) e AgaKhan Development Network (AKDN), Projeto n.º 330842553 N/A

Published
2019

25. Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa

Author

Tshilolo, Léon, primary, Tomlinson, George, additional, Williams, Thomas N., additional, Santos, Brígida, additional, Olupot-Olupot, Peter, additional, Lane, Adam, additional, Aygun, Banu, additional, Stuber, Susan E., additional, Latham, Teresa S., additional, McGann, Patrick T., additional, and Ware, Russell E., additional

Published
2019
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26. Empowering newborn screening programs in African countries through establishment of an international collaborative effort.

Author

Therrell, Bradford L., Lloyd-Puryear, Michele A., Ohene-Frempong, Kwaku, Ware, Russell E., Padilla, Carmencita D., Ambrose, Emmanuela E., Barkat, Amina, Ghazal, Hassan, Kiyaga, Charles, Mvalo, Tisungane, Nnodu, Obiageli, Ouldim, Karim, Rahimy, Mohamed Chérif, Santos, Brígida, Tshilolo, Léon, Yusuf, Careema, Zarbalian, Guisou, and Watson, Michael S.

Abstract

In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries. The agenda focused on newborn screening rationale, techniques, system development, implementation barriers, ongoing research, and collaborations both globally and across Africa. We provide an overview of the workshop and a description of the newborn screening activities in the 11 African countries represented at the workshop, with a focus on sickle cell disease. [ABSTRACT FROM AUTHOR]

Published
2020
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29. Genetic Variants That Influence Fetal Hemoglobin Expression from Hydroxyurea Treatment

Author

Marahatta, Anu, Flanagan, Jonathan M., Howard, Thad A., Mortier, Nicole, Schultz, William, McElhinney, Kathryn L, Tshilolo, Leon, Williams, Thomas N., Olupot-Olupot, Peter, Santos, Brigida, John, Chandy C., Opoka, Robert, Nieves, Rosa M., Mena, Rafael, Reid, Marvin E, Rankine-Mullings, Angela, Baker, Jasmine, McGann, Patrick T., Aygun, Banu, Lane, Adam, Tomlinson, George A., Latham, Teresa, Stuber, Susan E., and Ware, Russell E.

Published
2020
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30. Realizing effectiveness across continents with hydroxyurea: Enrollment and baseline characteristics of the multicenter REACH study in Sub‐Saharan Africa.

Author

McGann, Patrick T., Williams, Thomas N., Olupot‐Olupot, Peter, Tomlinson, George A., Lane, Adam, Luís Reis da Fonseca, José, Kitenge, Robert, Mochamah, George, Wabwire, Ham, Stuber, Susan, Howard, Thad A., McElhinney, Kathryn, Aygun, Banu, Latham, Teresa, Santos, Brígida, Tshilolo, Léon, Ware, Russell E., and for the REACH Investigators

Published
2018
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32. Hydroxyurea treatment is associated with lower malaria incidence in children with sickle cell anemia in sub-Saharan Africa

Author

Olupot-Olupot, Peter, Tomlinson, George, Williams, Thomas N., Tshilolo, Léon, Santos, Brígida, Smart, Luke R., McElhinney, Kathryn, Howard, Thad A., Aygun, Banu, Stuber, Susan E., Lane, Adam, Latham, Teresa S., and Ware, Russell E.

Abstract

Realizing Effectiveness Across Continents with Hydroxyurea (REACH, NCT01966731) provides hydroxyurea at maximum tolerated dose (MTD) for children with sickle cell anemia (SCA) in sub-Saharan Africa. Beyond reducing SCA-related clinical events, documented treatment benefits include ∼50% reduction in malaria incidence. To identify associations and propose mechanisms by which hydroxyurea could be associated with lower malaria rates, infections were recorded across all clinical sites (Angola, Democratic Republic of Congo, Kenya, and Uganda). Hazard ratios (HR) with 95% confidence intervals (CIs) for baseline demographics, and time-varying laboratory and clinical parameters were estimated in a modified Cox gap-time model for repeated events. Over 3387 patient-years of hydroxyurea treatment, 717 clinical malaria episodes occurred in 336 of 606 study participants; over half were confirmed by blood smear and/or rapid diagnostic testing with 97.8% Plasmodium falciparum. In univariate analysis limited to 4 confirmed infections per child, malaria risk was significantly associated with absolute neutrophil count (ANC), splenomegaly, hemoglobin, and achieving MTD; age, malaria season, MTD dose, fetal hemoglobin, α-thalassemia, and glucose-6-phosphate dehydrogenase deficiency had no effect. In multivariable regression of confirmed infections, ANC was significant (HR, 1.37 per doubled value; 95% CI, 1.10-1.70; P = .0052), and ANC values <3.0 × 109/L were associated with lower malaria incidence. Compared with nonpalpable, 1-4 cm splenomegaly also was associated with higher malaria risk (HR, 2.01; 95% CI, 1.41-2.85; P = .0001). Hydroxyurea at MTD is associated with lower malaria incidence in SCA through incompletely defined mechanisms, but treatment-associated mild myelosuppression with ANC <3.0 × 109/L is salutary. Splenomegaly represents an unexplained risk factor for malaria infections among children with SCA in Africa.

Published
2022
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