Search Results - "Amorim, Tatiana"

IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population by Godoy, Carolina, Brito, Pedro Paulo, Amorim, Tatiana, Souza, Edna Lúcia, Boa-Sorte, Ney

“…The Brazilian Unified National Health System (SUS) has incorporated newborn screening for cystic fibrosis since 2001. The protocol involves two samples of…”
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A Catalogue of Species of Collembola (Hexapoda: Ellipura) Deposited in Coleção de Referência de Fauna de Solo of the Universidade Estadual da Paraíba, Brazil by Brito, Roniere A, Lima, Estevam C. A, Ferreira, Aila S, Oliveira, João Victor L. C, Amorim, Tatiana P. L, Machado, Thais G, Lopes, Bruna C. H, Costa, Idalio A, Alves, Jorge L. S, Brito, Nathan P, Zeppelini, Douglas

“…We present the catalogue of species of Collembola of the Coleção de Referência de Fauna de Solo at the Universidade Estadual da Paraíba (CRFS/ UEPB), including…”
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Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil by Godoy, Carolina, Paixão, Danielle C., Boa-Sorte, Ney C.A., Amorim, Tatiana, da Silva Filho, Luiz Vicente R.F., Souza, Edna Lúcia

“…To analyze the performance of the cystic fibrosis (CF) newborn screening (NBS) program over its first five years in a Brazilian northeastern state. A…”
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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity by Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon

“…Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain…”
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Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico by Chiesa, Ana, Spécola, Norma, Poubel, Monique, Vela-Amieva, Marcela, Jurecki, Elaina, Vilela, Daniel RF, Mesojedovas, Débora, Carneiro, Giovanna Cavalcanti, Eiroa, Hernán, Nakamura, Keila Hayashi, de Almeida, Marcela Lopes, Cunha, Roberta Brandão, Amorim, Tatiana, Schwartz, Ida Vanessa Doederlein

“…To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico…”
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The sickle cell trait and end stage renal disease in Salvador, Brazil by Alladagbin, Dona J, Fernandes, Paula N, Tavares, Maria B, Brito, Jean T, Oliveira, Geraldo G S, Silva, Luciano K, Khouri, Nadia A, Oliveira, Marilia B, Amorim, Tatiana, Matos, Cácia M, Ribeiro, Guilherme S, Lopes, Antônio A, Gonçalves, Marilda S, Dos-Santos, Washington L C

“…Carriers of the sickle cell trait (HbAS) usually remain asymptomatic. However, under conditions of low tissue oxygenation, red blood cell sickling and vascular…”
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METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA by Nogueira, Zeni Drubi, Boa-Sorte, Ney, Leite, Maria Efigênia de Queiroz, Toralles, Maria Betânia Pereira, Amorim, Tatiana

“…To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and…”
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Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives by Kubaski, Francyne, Sousa, Inês, Amorim, Tatiana, Pereira, Danilo, Trometer, Joe, Souza, Alexandre, Ranieri, Enzo, Polo, Giulia, Burlina, Alberto, Brusius-Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Tomatsu, Shunji, Giugliani, Roberto

“…Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously…”
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Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, toxoplasmosis and hepatitis B and C: prevalence, accuracy and operational aspects by Boa-Sorte, Ney, Purificação, Antônio, Amorim, Tatiana, Assunção, Lorena, Reis, Alan, Galvão-Castro, Bernardo

“…Screening for vertically transmitted infection is mandatory and must be conducted at the first prenatal consultation. The most vulnerable women's groups are…”
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Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis by Cerqueira, Taíse Lima de Oliveira, Ramos, Yanne Rocha, Strappa, Giorgia Bruna, Jesus, Mariana Souza de, Santos, Jailciele Gonzaga, Sousa, Camila, Carvalho, Gildásio, Fernandes, Vladimir, Boa-Sorte, Ney, Amorim, Tatiana, Silva, Thiago Magalhães, Ladeia, Ana Marice Teixeira, Acosta, Angelina Xavier, Ramos, Helton Estrela

“…To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Characterization of patients with congenital…”
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Population medical genetics: translating science to the community by Giugliani, Roberto, Bender, Fernanda, Couto, Rowena, Bochernitsan, Aline, Brusius-Facchin, Ana Carolina, Burin, Maira, Amorim, Tatiana, Acosta, Angelina Xavier, Purificação, Antônio, Leistner-Segal, Sandra, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Matte, Ursula, Riegel, Mariluce, Cardoso-Dos-Santos, Augusto César, Rodrigues, Graziella, Oliveira, Marcelo Zagonel de, Tagliani-Ribeiro, Alice, Heck, Selia, Dresch, Vanusa, Schuler-Faccini, Lavínia, Kubaski, Francyne

“…Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The…”
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The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis by Cerqueira, Taise Lima de Oliveira, Ramos, Yanne, Strappa, Giorgia, Martin, Daniel San, Jesus, Mariana, Gonzaga, Jailciele, Ferreira, Paulo, Costa, Anabel, Fernandes, Vladimir, Amorim, Tatiana, Ladeia, Ana Marice, Ramos, Helton

“…To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Individual phenotypes were carefully…”
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Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service by Nogueira, Zeni Drubi, Boa-Sorte, Ney, Leite, Maria Efigênia de Queiroz, Kiya, Márcia Miyuki, Amorim, Tatiana, Fonseca, Silvana Fahel da

“…To study breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). A cross-sectional study of 357 children with SS…”
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New insights on how nucleotide excision repair could remove DNA adducts induced by chemotherapeutic agents and psoralens plus UV-A (PUVA) in Escherichia coli cells by Lage, Claudia, de Pádula, Marcelo, de Alencar, Tatiana Amorim Muniz, Gonçalves, Silvia Regina da Fonseca, Vidal, Leonardo da Silva, Cabral-Neto, Januário, Leitão, Alvaro Costa

“…Chemotherapeutic agents such as mitomycin C or nitrogen mustards induce DNA inter-strand cross-links (ICL) and are highly toxic, thus constituting an useful…”
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As representações de Dilma Rousseff pelo jornal Correio Braziliense: mudanças e permanências by Gomes de Amorim, Tatiana Regina

“…O objetivo do artigo é verificar se houve mudança na forma que o jornal Correio Braziliense representou Dilma Rousseff em suas notícias entre 2011/2016 (1º e…”
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Rare diseases diagnosed through neonatal screening: Data from the Brazilian rare diseases network by Milke, Júlia Cordeiro, de Oliveira, Bibiana Mello, Schmidt, Amanda Maria, dos Santos, Mariana Lopes, Holtz, Annanda Pink, Fighera, Gabriella Zanin, Ponce, Betania, Fermo, Sofia Simoni Rossi, Broch, Monique Sartori, Artifon, Milena, Viegas, Isadora, Lorea, Cláudia Fernandes, Giusti, Marcia, Galera, Marcial Francis, Amorim, Tatiana, de Faria Ferraz, Victor Evangelista, Alves, Domingos, Schwartz, Ida Vanessa Doederlein, Félix, Têmis Maria

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Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia by da Fonseca, Silvana Fahel, Amorim, Tatiana, Purificação, Antônio, Gonçalves, Marilda, Boa-Sorte, Ney

“…In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/β0-thalassemia. To…”
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Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing by Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Bitencourt, Fernanda Hendges de, Tonon, Tássia, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Leite, Maria Efigênia de Queiroz, Amorim, Tatiana, Porta, Gilda, Seda Neto, João, Miura, Irene Kazumi, Steiner, Carlos Eduardo, Martins, Ana Maria, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Schwartz, Ida Vanessa Doederlein

“…Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain α-keto acid dehydrogenase (BCKDH) complex genes (BCKDHA,…”
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Pilot study of newborn screening for six lysosomal diseases in Brazil by Kubaski, Francyne, Sousa, Ines, Amorim, Tatiana, Pereira, Danilo, Silva, Camilo, Chaves, Vitor, Brusius-Facchin, Ana Carolina, Netto, Alice B.O., Soares, Juliano, Vairo, Filippo, Poletto, Edina, Trometer, Joe, Souza, Alexandre, Ranieri, Enzo, Polo, Giulia, Hong, Xinying, Herbst, Zackary M., Burlina, Alberto, Gelb, Michael H., Giugliani, Roberto

“…Background: Lysosomal diseases (LDs) are progressive life-threatening disorders that are usually asymptomatic at birth. Specific treatments are available for…”
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Pilot study update: Newborn screening for lysosomal disorders in Brazil by Kubaski, Francyne, Sousa, Ines, Amorim, Tatiana, Badaró, Juliana, Pereira, Danilo, Silva, Camilo, Brusius-Facchin, Ana C., Netto, Alice B.O., Trometer, Joe, Souza, Alexandre, Ranieri, Enzo, Polo, Giulia, Hong, Xinying, Burlina, Alberto, Gelb, Michael, Giugliani, Roberto

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