Results 11 to 20 of about 6,503 (115)

A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

Molecular Genetics & Genomic Medicine, 2019
Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alterations in paternal
Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Letícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, Letícia daCunha Guida   +8 more
doaj   +1 more source

Utilização de indicadores de desempenho em um Comitê de Ética em Pesquisa no Rio de Janeiro – Brasil

Revista Latinoamericana de Bioética, 2018
O presente estudo tem como principais objetivos utilizar os indicadores desenvolvidos como ferramenta para avaliar o desempenho do Comitê de Ética em Pesquisa de uma instituição Federal no Rio de Janeiro, quanto à eficiência e eficácia de
Adriana Duarte Rocha, Amanda Rocha Chirol, Ana Carolina Carioca da Costa, Maria Elisabeth Lopes Moreira   +3 more
doaj   +4 more sources

Infants with microcephaly due to ZIKA virus exposure: nutritional status and food practices

Nutrition Journal, 2019
Background Children with microcephaly due to vertical exposure to Zika virus are an interesting population for investigation. Highlighted among their unique aspects are those related to nutrition due to its impact on child growth and development ...
Samira Fernandes Morais dos Santos, Fernanda Valente Mendes Soares, Andrea Dunshee de Abranches, Ana Carolina Carioca da Costa, Maria Elisabeth Lopes Moreira, Vania de Matos Fonseca   +5 more
doaj   +1 more source

Neonatal diseases and oxidative stress in premature infants: an integrative review

Jornal de Pediatria, 2022
Objective: To describe the relationship of oxidative stress and antioxidant biomarkers in cord blood of premature newborns and the prognosis of diseases in the neonatal period. Sources: This study consists of an integrative review.
Versiéri Oliveira de Almeida, Renan Augusto Pereira, Sérgio Luís Amantéa, Cláudia Ramos Rhoden, Maurício Obal Colvero   +4 more
doaj   +1 more source

Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família

Revista Brasileira de Medicina de Família e Comunidade, 2012
As doenças genéticas atingem cerca de 3% a 10% da população e podem levar a problemas de saúde crônicos e deficiências. O objetivo deste trabalho foi descrever uma experiência nacional inédita de assistência na área da genética clínica por meio de uma ...
Daniela Koeller Rodrigues Vieira, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena Júnior   +2 more
doaj   +1 more source

The trajectory of head circumference and neurodevelopment in very preterm newborns during the first two years of life: a cohort study

Jornal de Pediatria
Objective: To evaluate the growth trajectory of head circumference and neurodevelopment, and to correlate head circumference with cognitive, language, and motor outcomes during the first two years.
Maria Luciana de Siqueira Mayrink, Letícia Duarte Villela, Maria Dalva Barbosa Baker Méio, Fernanda Valente Mendes Soares, Andrea Dunshee de Abranches, Sylvia Reis Gonçalves Nehab, Ana Beatriz Rodrigues Reis, Leticia Baptista de Paula Barros, Maura Calixto Cecherelli de Rodrigues, Saint-Clair Gomes Junior, Maria Elisabeth Lopes Moreira   +10 more
doaj   +1 more source

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Molecular Genetics and Metabolism Reports, 2017
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and ...
Anneliese L. Barth, Tatiana S.P.C. de Magalhães, Ana Beatriz R. Reis, Maria Lucia de Oliveira, Fernanda B. Scalco, Nicolette C. Cavalcanti, Daniel S. e Silva, Danielle A. Torres, Alessandra A.P. Costa, Carmem Bonfim, Roberto Giugliani, Juan C. Llerena, Jr, Dafne D.G. Horovitz   +12 more
doaj   +1 more source

Freezing and thawing effects on fat, protein, and lactose levels of human natural milk administered by gavage and continuous infusion

Jornal de Pediatria, 2014
Objectives: to analyze the changes in human milk macronutrients: fat, protein, and lactose in natural human milk (raw), frozen and thawed, after administration simulation by gavage and continuous infusion. Method: an experimental study was performed with
Andrea D. Abranches, Fernanda V.M. Soares, Saint-Clair G. Junior, Maria Elisabeth L. Moreira   +3 more
doaj   +1 more source

Desfechos neonatais adversos e fatores associados entre gestantes com diabetes mellitus gestacional e de risco habitual

Demetra
Objetivo: Avaliar os desfechos neonatais adversos e fatores associados entre gestantes com diabetes mellitus gestacional e de risco gestacional habitual.
Daniele Marano Rocha, Camilla Azevedo Silva Magalhães, Maria Elisabeth Lopes Moreira, Marcos Augusto Bastos Dias   +3 more
doaj   +1 more source

Specific Instruments to Assess Quality of Life in Children and Adolescents with Asthma

Jornal de Pediatria (Versão em Português), 2013
Objective: To identify and describe specific instruments to assess health-related quality of life (HRQoL) in children and adolescents with asthma.
Cristian Roncada, Rita Mattiello, Paulo M. Pitrez, Edgar E. Sarria   +3 more
doaj   +1 more source