Carolina Chacra Carvalho e Marinho, Cíntia Santos Conceição, Maria Lizzia Moura Ferreira dos Santos, Soraia Soraia Martins de Carvalho, Tânia Maria de Oliva Menezes, Eleonora Peixinho Guimarães,
A linha de cuidado configura-se como uma estratégia de reorganização dos serviços de saúde, a fim de superar a fragmentação das práticas e alcançar uma assistência integral. O objetivo deste estudo foi analisar o olhar da equipe multiprofissional acerca da implantação da linha de cuidado numa unidade docente-assistencial. Pesquisa realizada no Complexo Comunitário Vida Plena, unidade docente-assistencial em Salvador, Bahia. Os sujeitos foram profissionais que atuam na linha de cuidado, totalizando ...
Tópico(s): Healthcare during COVID-19 Pandemic
2012 - Secretary of Health of the State of Bahia | Revista Baiana Saúde Pública

Cíntia Santos Silva Machado, Hálida Larissa Batista da Silva do Valle, Karen Maria de Paula, Sheilla da Silva Lima,
OBJETIVO: verificar possíveis desordens do processamento auditivo em crianças com distúrbio de leitura e escrita. MÉTODOS: foram selecionadas 15 crianças, com audição normal, na faixa etária de 8 a 12 anos, com baixo rendimento escolar e que se encontravam em tratamento no setor de linguagem escrita no Centro Clínico de Fonoaudiologia da Pontifícia Universidade Católica de Minas Gerais. Os indivíduos foram submetidos aos testes: Pediatric Speech Intelligibility test, - Staggered Spondaic Word test, ...
Tópico(s): Hearing Impairment and Communication
2010 - CEFAC Saúde e Educação | Revista CEFAC
Flávia M. G. C. Bandeira, Jaqueline C. Peres, Eduardo J. Carvalho, I.M.L. Bezerra, Aderson S. Araújo, Mariana Rezende Bandeira de Mello, Cíntia Santos Silva Machado,
O uso de hidroxiuréia promove a elevação dos níveis de hemoglobina fetal (Hb F) em pacientes portadores de síndromes falciformes (SF) e o medicamento vem sendo estudado em vários grupos de pacientes, incluindo adultos e crianças. O presente trabalho analisou a eficácia e tolerabilidade do uso de hidroxiuréia em crianças na faixa etária entre 5 e 17 anos de idade e em adultos jovens acima de 18 anos, portadores de hemoglobinopatia SS ou Sbeta0 que foram acompanhados regularmente no ambulatório do Hospital ...
Tópico(s): Iron Metabolism and Disorders
2004 - Elsevier BV | Revista Brasileira de Hematologia e Hemoterapia

Fernanda Cordoba Lanza, Cintia Santos Alves, Roberta Loures dos Santos, Anderson Alves de Camargo, Simone Dal Corso,
BACKGROUND: There has not been a detailed description of expiratory reserve volume (ERV) during slow expiration with glottis open in infralateral decubitus position (ELTGOL, for Expiration Lente Totale Glotte Ouverte en infraLatéral) and its reproducibility. The aim of this study was to determine ERV during ELTGOL and to evaluate ERV intra-observer and inter-observer reliability. METHODS: In this prospective study, subjects were 30–70 y of age with chronic lung disease. ELTGOL (an active-passive or active physiotherapy ...
Tópico(s): Respiratory and Cough-Related Research
2014 - American Association for Respiratory Care | Respiratory Care

Márcia Mattos Gonçalves Pimentel, Fabíola C. Rodrigues, Marco Antônio Araújo Leite, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Marcus Vinícius Della Coletta, Luiz Felipe Rocha Vasconcellos, Gabriella de Medeiros Abreu, Jussara Mendonça dos Santos, Cíntia Barros Santos-Rebouças,
Abstract Background Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce. Methods In this study, we conducted a molecular screening of α-synuclein point mutations and copy number variation in the largest cohort of Brazilian patients with Parkinson's disease (n = 549) and also ...
Tópico(s): Nuclear Receptors and Signaling
2015 - Elsevier BV | Parkinsonism & Related Disorders

L Torres, Dayana Ribeiro, Raphael Hirata, Luis G. C. Pacheco, Mônica Cristina Souza, Louisy Sanches dos Santos, Cíntia Silva Santos, Mohammad Salah, Mateus Matiuzzi da Costa, Márcio Garcia Ribeiro, Salah A. Selim, Vasco Azevedo, Ana Luíza Mattos‐Guaraldi,
Corynebacterium diphtheriae, Corynebacterium ulcerans and Corynebacterium pseudotuberculosis constitute a group of potentially toxigenic microorganisms that are related to different infectious processes in animal and human hosts. Currently, there is a lack of information on the prevalence of disease caused by these pathogens, which is partially due to a reduction in the frequency of routine laboratory testing. In this study, a multiplex polymerase chain reaction (mPCR) assay that can simultaneously ...
Tópico(s): Historical Medical Research and Treatments
2013 - Instituto Oswaldo Cruz, Ministério da Saúde | Memórias do Instituto Oswaldo Cruz

Adriana Vaz dos Santos, Cristiane Pinheiro Pestana, Karen Rafaella da Silva Diniz, Mário Campos, Cláudia Bueno Abdalla-Carvalho, Ana Lúcia Zuma de Rosso, João Santos Pereira, Denise Hack Nicaretta, William Luciano de Carvalho, Jussara Mendonça dos Santos, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
In the last decade, several genes have been linked to Parkinson's disease (PD), including GIGYF2, ATP13A2 and GBA. To explore whether mutations in these genes contribute to development of PD in the Brazilian population, we screened 110 patients with early-onset PD. No clearly pathogenic mutations were identified in ATP13A2 and GIGYF2. In contrast, we identified a significantly higher frequency of known pathogenic mutations in GBA gene among the PD cases (6/110 = 5.4%) when compared to the control group ( ...
Tópico(s): Neurological diseases and metabolism
2010 - Elsevier BV | Neuroscience Letters

Cíntia Santos Silva Machado, Angélika Caldeira Oliveira Carvalho, Paloma Luara Guerra e Silva,
OBJETIVO: Comparar com a literatura os valores de latência e amplitude de P300 em adultos jovens brasileiros saudáveis a fim de estabelecer um padrão normativo para futuros estudos, e verificar se os valores encontrados na amostra possuem correlação com o sexo, situação proposta na metodologia do exame e fases do ciclo menstrual. MÉTODOS: A amostra constou de 22 indivíduos saudáveis, sem queixa de desatenção, sem problemas neurológicos e auditivos, de 18 a 30 anos de idade. Todos os indivíduos foram ...
Tópico(s): Vestibular and auditory disorders
2009 - Brazilian Society of Speech Therapy | Revista da Sociedade Brasileira de Fonoaudiologia

Márcia Mattos Gonçalves Pimentel, Karla Cristina Vasconcelos Moura, Cláudia Bueno Abdalla, João Santos Pereira, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, Mário Campos, Richard Morais de Almeida, Jussara Mendonça dos Santos, Izabel Cristina Constantino Bastos, María Fernanda Mendes, Henryk Maultasch, Flavio Henrique de Rezende Costa, Antônio Luiz dos Santos Werneck, Cíntia Barros Santos-Rebouças,
Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (∼2%), and in three additional relatives. No ...
Tópico(s): Neurological disorders and treatments
2007 - Elsevier BV | Neuroscience Letters

Cíntia Santos Braghiroli, Rodrigo Ieiri, Juliana Polizel Ocanha, Rafael Bispo Paschoalini, Hélio Amante Miot,
Hand-foot syndrome is a common cutaneous adverse effect associated with certain systemic chemotherapy drugs. It is characterized by erythema, edema, and burning sensation, especially over palmoplantar surfaces. We report the case of an elderly patient undergoing chemotherapy after a breast cancer surgery who developed symptoms two months after the start of the regimen. There are no studies that explore specific therapies. Suggestive therapy include reducing agent dosage, increasing the interval ...
Tópico(s): Orthopedic Surgery and Rehabilitation
2017 - Elsevier BV | Anais Brasileiros de Dermatologia

Gabriella de Medeiros Abreu, D. Valença, Mário Campos, Camilla P. da Silva, João Santos Pereira, Marco Antônio Araújo Leite, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, Luiz Felipe Rocha Vasconcellos, Delson José da Silva, Marcus Vinícius Della Coletta, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture.In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 ...
Tópico(s): Neurological diseases and metabolism
2016 - Elsevier BV | Neuroscience Letters

Louisy Sanches dos Santos, Camila Azevedo Antunes, Cíntia Silva Santos, José Augusto Adler Pereira, Priscila Soares Sabbadini, Maria das Graças de Luna, Vasco Azevedo, Raphael Hirata, Andreas Burkovski, Lídia Maria Buarque de Oliveira Asad, Ana Luíza Mattos‐Guaraldi,
Corynebacterium diphtheriae, the aetiologic agent of diphtheria, also represents a global medical challenge because of the existence of invasive strains as causative agents of systemic infections. Although tellurite (TeO32-) is toxic to most microorganisms, TeO32--resistant bacteria, including C. diphtheriae, exist in nature. The presence of TeO32--resistance (TeR) determinants in pathogenic bacteria might provide selective advantages in the natural environment. In the present study, we investigated ...
Tópico(s): Essential Oils and Antimicrobial Activity
2015 - Instituto Oswaldo Cruz, Ministério da Saúde | Memórias do Instituto Oswaldo Cruz

Alexandre Alves de Souza de Oliveira Dias, Louisy Sanches dos Santos, Priscila Soares Sabbadini, Cíntia Silva Santos, Feliciano Correa Silva, Fátima Napoleão, Prescilla Emy Nagao, Maria Helena Simões Villas-Bôas, Raphael Hirata, Ana Luíza Mattos Guaraldi,
O artigo revisa a literatura sobre a emergência de infecções humanas causadas por Corynebacterium ulcerans em diversos países, incluindo o Brasil. Foi realizada análise de artigos publicados entre 1926 e 2011 nas bases Medline/PubMed e SciELO, bem como artigos e informes do Ministério da Saúde. Apresenta-se um esquema de triagem, rápido, econômico e de fácil execução, capaz de permitir a realização do diagnóstico presuntivo de C. ulcerans e C. diphtheriae na maioria dos laboratórios brasileiros ...
Tópico(s): Bacterial Identification and Susceptibility Testing
2011 - UNIVERSIDADE DE SÃO PAULO | Revista de Saúde Pública

Thainá Fernandez Gonçalves, Andressa Pereira Gonçalves, Natália Fintelman-Rodrigues, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças,
An increasing number of neurodevelopmental diseases have been associated with disruption of chromatin remodeling in eukaryotes. Lysine(K)-specific demethylase 5C (KDM5C) is a versatile epigenetic regulator that removes di- and tri-methyl groups of lysine 4 on histone H3 (H3K4) from transcriptional targets and is essential for neuronal survival and dendritic growth. Mutations in KDM5C gene, located at Xp11.22, have been reported as an important cause of both syndromic and non-syndromic X-linked intellectual ...
Tópico(s): Histone Deacetylase Inhibitors Research
2014 - Elsevier BV | European Journal of Medical Genetics

Karla Cristina Vasconcelos Moura, Mário Campos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José Silva, Flávia Lima dos Santos, Fabíola da Costa Rodrigues, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early- ...
Tópico(s): Neurological diseases and metabolism
2013 - Hindawi Publishing Corporation | Disease Markers

Natália Fintelman-Rodrigues, Juliana C. Corrêa, J. M. Santos, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças,
Recent evidence shows that almost 92% of the DS children are born from young mothers, suggesting that other risk factors than advanced maternal age must be involved. In this context, some studies demonstrated a possible link between DS and maternal polymorphisms in genes involved in folate metabolism. These polymorphisms, as well as low intake of folate could generate genomic instability, DNA hypomethylation and abnormal segregation, leading to trisomy 21. We compared the frequency of CBS 844ins68, ...
Tópico(s): Prenatal Screening and Diagnostics
2009 - Hindawi Publishing Corporation | Disease Markers

Camilla P. da Silva, Gabriella de Medeiros Abreu, Pedro Hernán Cabello, Mário Campos, João Santos Pereira, Sarah R. de A. Ramos, Caroline Macedo Nascimento, D Voigt, Ana Lúcia Zuma de Rosso, Marco Antônio Araújo Leite, Luiz Felipe Rocha Vasconcellos, Denise Hack Nicaretta, Marcus Vinícius Della Coletta, Delson José da Silva, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Veluma Calassara, D. Valença, C. Martins, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches.Here, we conducted the first ...
Tópico(s): Neurological diseases and metabolism
2017 - Elsevier BV | Journal of the Neurological Sciences

André Alves Dias, F.C. Silva, Louisy Sanches dos Santos, Marilza Moura Ribeiro-Carvalho, Priscila Soares Sabbadini, Cíntia Silva Santos, Alessandra A. Filardy, Anderson Myioshi, Vasco Azevedo, Raphael Hirata, Maria Helena Simões Villas-Bôas, Ana Luíza Mattos‐Guaraldi,
During the last decade the majority of diphtheria cases in Europe had Corynebacterium ulcerans as the etiologic agent with dogs and cats as the reservoir hosts. However, little has been documented about the virulence factors of this zoonotic pathogen. To set up an in vivo experimental C. ulcerans infection model, conventional Swiss Webster mice were intravenously infected with different doses (from 1 × 107 to 5 × 109 bacteria per mouse) of C. ulcerans strains, namely 809 (from human lower respiratory ...
Tópico(s): Orthopedic Infections and Treatments
2011 - Elsevier BV | Veterinary Microbiology

Renata Stavracakis Peixoto, G.A. Pereira, Louisy Sanches dos Santos, Cláudio Marcos Rocha-de-Souza, Débora Leandro Rama Gomes, Cíntia Silva Santos, Lúcia Maria Corrêa Werneck, Alexandre Alves de Souza de Oliveira Dias, Raphael Hirata, Prescilla Emy Nagao, Ana Luíza Mattos‐Guaraldi,
Although infection by Corynebacterium diphtheriae is a model of extracellular mucosal pathogenesis, different clones have been also associated with invasive infections such as sepsis, endocarditis, septic arthritis and osteomyelitis. The mechanisms that promote C. diphtheriae infection and haematogenic dissemination need further investigation. In this study we evaluated the association and invasion mechanisms with human umbilical vein endothelial cells (HUVECs) and experimental arthritis in mice ...
Tópico(s): Mycobacterium research and diagnosis
2013 - Microbiology Society | Microbiology

Beatriz de Carvalho Guimarães, Ana Carolina Valente Pereira, Fabíola da Costa Rodrigues, Adriana Vaz dos Santos, Mário Campos, Jussara Mendonça dos Santos, Flávia Lima dos Santos, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, João Santos Pereira, Delson José da Silva, Marcus Vinícius Della Coletta, Cíntia Barros Santos-Rebouças, Márcia Mattos Gonçalves Pimentel,
Tópico(s): Autophagy in Disease and Therapy
2011 - Elsevier BV | Parkinsonism & Related Disorders

Evelyn Quintanilha Vianna, Rafael Mina Piergiorge, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Veluma Calassara, Carla Rosenberg, Ana Cristina Victorino Krepischi, Raquel Tavares Boy da Silva, Suely Rodrigues dos Santos, Márcia Gonçalves Ribeiro, Filipe Brum Machado, Enrique Medina‐Acosta, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças,
Tópico(s): CRISPR and Genetic Engineering
2020 - Springer Science+Business Media | Molecular Neurobiology

Louisy Sanches dos Santos, Lincoln de Oliveira Sant’Anna, Juliana Nunes Ramos, Elisa Martins Ladeira, Renata Stavracakis Peixoto, Lucas Lourencio Borges, Cíntia Silva Santos, Fátima Napoleão, T.C.F. Camello, G.A. Pereira, Raphael Hirata, Verônica Viana Vieira, Lécia Maria Sousa Santos Cosme, Priscila Soares Sabbadini, Ana Luíza Mattos‐Guaraldi,
SUMMARY We describe microbiological, clinical and epidemiological aspects of a diphtheria outbreak that occurred in Maranhão, Brazil. The majority of the 27 confirmed cases occurred in partially ( n = 16) or completely ( n = 10) immunized children ( n = 26). Clinical signs and characteristic symptoms of diphtheria such as cervical lymphadenopathy and pseudomembrane formation were absent in 48% and 7% of the cases, respectively. Complications such as paralysis of lower limbs were observed. Three cases resulted ...
Tópico(s): Toxin Mechanisms and Immunotoxins
2014 - Cambridge University Press | Epidemiology and Infection

Caio A.M. Tavares, Luciano César Pontes Azevedo, Álvaro Réa-Neto, Niklas Söderberg Campos, Cristina Prata Amêndola, Amanda Christina Kozesinski-Nakatani, Paula Geraldes David-João, Suzana Margareth Lobo, Thiago Corsi Filiponi, Guacyra Margarita Batista de Almeida, Ricardo Reinaldo Bergo, Mário R. R. Guimarães-Júnior, Rodrigo C. Figueiredo, Joan R. Castro, Clewer J. Schuler, Glauco Adrieno Westphal, Ana Carla Carioca, Frederico Monfradini, Josué Nieri, Flavia M. O. Neves, Jaqueline A. Paulo, Camila Santos N Albuquerque, Mariana Castaldi Ramalho Silva, Mikhail Kosiborod, Adriano José Pereira, Lucas Petri Damiani, Thiago Domingos Corrêa, Ary Serpa Neto, Otávio Berwanger, Fernando G. Zampieri, Juliano Luiz de Souza, Luciana Sanches, M. C. Castro, Mariana Sequetin Cunha, Flávia Maiara Lima Fagundes, Juan Siqueira, Glauco Adrieno Westphal, C.F. Girlado Ospina, Evelin Silva, Juliano Ramos, Miriam Machado, Ruthy Fermamdes, Camila Lunardi, Luana Radun, Andervan Moura, Evânio da Silva, Lívia de Azevedo Dantas, Livia Gomes, Maria Luzia Silva, Yolanda Nunes, Ana Beatriz Lino, Gabrielly Barros, João Pedro Nunes, M. P. T. Barbosa, Guilherme Rocha Lino de Souza, Hugo Miguel Santos Duarte, H C da Mota, Joan Castro, Mayler Olambrada, Rafael Borges, Luciana Barros, Nélson Pereira, Marcos Tavares, Gabriela Joia, Gabriella Cordeiro, Natalia Mattos, Vinicius Lanza, Victória N. G. Silva, Marianna A Dracoulakis, Natalia Alvaia, Camilla de Oliveira Vieira, Izabela Freitas, Beatriz Souza da Conceicao, Jaqueline A.R. Borges, Aline Silva, Thais Caroline, Josiane Jesus, Allan O. Santos, Bruno Müller Vieira, Isabelle Guerreiro, Luciana Butini Oliveira, Luiz Alberto Esteves, Rodrigo Bolini, Edmilson Carvalho, Adilson Lacerda, Aline Miranda Ferreira, Gustavo Sica, Lara Leite de Oliveira, Maria das Vitórias Guedes, Otávio Gebara, Ana Paula Espirito Santo, Ana Tarina Alvarez Lopes, Hevelton Ribeiro, Pablo Oscar Tomba, Vislaine Do Aguiar Morete, Joyce S. F. D. de Almeida, Cláudia Silva, Luana Gato, Leticia Inada, Claire Dias, Frederico Dall’Orto, Graziela P. Melo, Ana Roberta Silva, G G Ribeiro, Kemilys Marine Ferreira, Rodrigo Biondi, Sérgio Henrique Rodolpho Ramalho, Derick Silva, Eduardo Garbin, Ingrid de Abreu Pereira, Luana Nunes, Rayane Lacourt, Cintia Loss, J Gomes da Silva, Claudio Jorge, Graziela Denerdin, Karla Millani, Luana Machado, Ana Carolina Affonso, Juliane Garcia, Tatiane Oiafuso, Luana Camargo, K. S. F. MORAIS, Aline Angeli, Cássia Pradela, Gustava Marques, J Jesus Silva, Maria Fernanda dos Santos, Matteo Zini, Keulle Candido, Tamires Daiane da Silva, Verônica Barros, Mariana Pool, Fabio Serra, Alef Coelho, L. S. M. VIEIRA, Tamyres M.O. Galvão, Alexandre Pereira Tognon, Marcos Antônio Dozza, Sabrina Frighetto Henrich, Andressa Giordani, Aloma Menegasso, Murillo de Oliveira Antunes, Nicoli Gosmano, S. M. L. MOURA, Tibério Costa, Vitoria Canato, Gabriela Queiroz, Mariana Gonçalvez, Mariana Zanona, Hellen Dias, Eduardo Bazanelli Junqueira Ferraz, Caroline Rossi, Leandro Pozzo, Diogo D.F. Moia, Ronaldo Vicente Pereira Soares, Ramy Machado Marino, Bruna Ladeira Moreno, A. Serapião, Roberta G.R.A.P. Momesso, Bárbara Gomes da Silva, Cintia Selles Santos, Elaine de Jesus Santos, Bruna dos Santos Sampaio, Luciana Pereira Almeida de Piano,
Sodium-glucose cotransporter 2 (SGLT-2) inhibitors improve outcomes in patients with type 2 diabetes, heart failure, and chronic kidney disease, but their effect on outcomes of critically ill patients with organ failure is unknown.
Tópico(s): Potassium and Related Disorders
2024 - American Medical Association | JAMA

Thaís Fernandez Gonçalves, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Flora Tassone, Guadalupe Mendoza‐Morales, Márcia Gonçalves Ribeiro, Evelyn Kahn, Raquel Boy, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças,
Almost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism.Mutational profiles were only elucidated by using a combination of molecular approaches (CGG-based PCR, Sanger sequencing, MS-MLPA, Southern blot and mPCR).Four patients exhibited small deletions encompassing the CGG repeats tract and flanking regions, ...
Tópico(s): Chromosomal and Genetic Variations
2015 - Taylor & Francis | Expert Review of Molecular Diagnostics

Cíntia Barros Santos-Rebouças, Raquel Boy, Evelyn Quintanilha Vianna, Andressa Pereira Gonçalves, Rafael Mina Piergiorge, Bianca Barbosa Abdala, Jussara Mendonça dos Santos, Veluma Calassara, Filipe Brum Machado, Enrique Medina‐Acosta, Márcia Mattos Gonçalves Pimentel,
In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes. However, approximately 12-23% of X-linked genes escape from XCI, being bi-allelic expressed. Herein, we report on genetic and functional data from an asymptomatic female of a Fragile X syndrome family, who harbors a large deletion on the X-chromosome. Array-CGH uncovered that the de novo, terminal, paternally originated 32 Mb ...
Tópico(s): Chromosomal and Genetic Variations
2020 - Frontiers Media | Frontiers in Genetics

José Tarcísio Giffoni de Carvalho, Débora da Silva Baldivia, David Tsuyoshi Hiramatsu de Castro, Helder Freitas dos Santos, Cintia Miranda dos Santos, Alex Santos Oliveira, Tamaeh Monteiro‐Alfredo, Kellen Natalice Vilharva, Kely de Picoli Souza, Edson Lucas dos Santos,
Polyphenols have demonstrated several potential biological activities, notably antitumoral activity dependent on immune function. In the present review, we describe studies that investigated antitumor immune responses influenced by polyphenols and the mechanisms by which polyphenols improve the immune response. We also discuss the limitations in related areas, especially unexplored areas of research, and next steps required to develop a therapeutic approach utilizing polyphenols in oncology.
Tópico(s): Phytochemicals and Antioxidant Activities
2020 - Elsevier BV | The Journal of Nutritional Biochemistry

María Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Mana M. Mehrjouy, Aldesia Provenzano, Debora Vergani, Vanna Pecile, Francesca Novara, Paolo Reho, Marilena Carmela Di Giacomo, Giancarlo Discepoli, Roberto Giorda, Micheala A. Aldred, Cíntia Barros Santos-Rebouças, Andressa Pereira Gonçalves, Diane Abuelo, Sabrina Giglio, Ivana Ricca, Fabrizia Franchi, Philippos C. Patsalis, Carolina Sismani, María Ángeles Mori, Julián Nevado, Niels Tommerup, Orsetta Zuffardi,
We investigated 52 cases of de novo unbalanced translocations, consisting in a terminally deleted or inverted-duplicated deleted (inv-dup del) 46th chromosome to which the distal portion of another chromosome or its opposite end was transposed. Array CGH, whole-genome sequencing, qPCR, FISH, and trio genotyping were applied. A biparental origin of the deletion and duplication was detected in 6 cases, whereas in 46, both imbalances have the same parental origin. Moreover, the duplicated region was ...
Tópico(s): Prenatal Screening and Diagnostics
2018 - Springer Science+Business Media | Human Genetics

Ricardo Vianna de Carvalho, Fernanda Ferreira da Silva Lima, Cíntia Silva Santos, Mônica Cristina Souza, Rondinele Santos da Silva, Ana Luíza Mattos‐Guaraldi,
Bloodstream and venous catheter-related corynebacterial infections in paediatric patients with haematological cancer were investigated from January 2003 to December 2014 at the Brazilian National Cancer Institute in Rio de Janeiro, Brazil. We observed that during cancer treatment, invasive corynebacterial infections occurred independent of certain factors, such as age and gender, underlying diseases and neutropenia. These infections were ssscaused by Corynebacterium amycolatum and other non-diphtherial ...
Tópico(s): Botulinum Toxin and Related Neurological Disorders
2018 - Elsevier BV | The Brazilian Journal of Infectious Diseases

Lídia da Silva Pereira, Viviane Veiga do Nascimento, Suzanna de Fátima Ferreira Ribeiro, Rosana Rodrigues, Kátia Valevski Sales Fernandes, André de Oliveira Carvalho, Ilka M. Vasconcelos, Cíntia dos Santos Bento, Cláudia Pombo Sudré, Umberto Zottich, Valdirene Moreira Gomes,
Tópico(s): Insect Pest Control Strategies
2018 - Springer Science+Business Media | Acta Physiologiae Plantarum

Cíntia Barros Santos-Rebouças, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Bianca Barbosa Abdala, Luciana Branco da Motta, Jerson Laks, Margarete Borges de Borges, Ana Lúcia Zuma de Rosso, João Santos Pereira, Denise Hack Nicaretta, Márcia Mattos Gonçalves Pimentel,
Tópico(s): Lysosomal Storage Disorders Research
2017 - Springer Science+Business Media | NeuroMolecular Medicine