Results 51 to 60 of about 10,615,127 (184)
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
Orphanet Journal of Rare DiseasesBackground Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis.Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida +10 moredoaj +1 more sourceEarly 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 moredoaj +1 more sourceThe Association Between Women's Perception of Birth During the Pandemic, Companion of Choice and Support From Health Professionals: A Cross‐Sectional Study in 20 Countries in the WHO European Region
Birth, Volume 52, Issue 4, Page 677-689, December 2025.ABSTRACT Background
Mitigation measures implemented in response to the COVID‐19 pandemic led to significant changes in maternity care across Europe, including restrictions on companions during labor and birth. This cross‐sectional study explores the association between the presence of a companion of choice and a positive perception of the birth ...Stephanie Batram‐Zantvoort, Céline Miani, Ilaria Mariani, Emanuelle Pessa Valente, Mehreen Zaigham, Ingvild Hersoug Nedberg, Magdalena Kurbanović, Elizabete Pumpure, Anja Bohinec, Antigone Sarantaki, Barbara Baranowska, Alessia Abderhalden‐Zellweger, Elise de La Rochebrochard, Raquel Costa, Marina Ruxandra Otelea, Alina Liepinaitienė, Jelena Radetic, Amira Ćerimagić, Maryse Arendt, Martina König‐Bachmann, Stefano Delle Vedove, Karolina Linden, Sigrun Kongslien, Daniela Drandić, Darta Kreslina, Zalka Drglin, Dimitra Metallinou, Urszula Tataj‐Puzyna, Michael Gemperle, Virginie Rozée, Heloísa Dias, Marija Mizgaitienė, Jovana Ruzicic, Imola Simon, Simona Fumagalli, Helen Elden, Eline Skirnisdottir Vik, Barbara Mihevc Ponikvar, Aikaterini Lykeridou, Beata Szlendak, Claire de Labrusse, Tiago Miguel Pinto, Simona Jazdauskienė, Christoph Zenzmaier, Ilana Chertok, Emma Sacks, Marzia Lazzerini, on behalf of IMAgiNE EURO Study group, Martina König‐Bachmann, Christoph Zenzmaier, Imola Simon, Elisabeth D’Costa, Anne Galle, Silke D’Hauwers, Amira Ćerimagić, Ourania Kolokotroni, Eleni Hadjigeorgiou, Maria Karanikola, Nicos Middleton, Ioli Orphanide Eteocleous, Daniela Drandić, Magdalena Kurbanović, Lenka Laubrova Zirovnicka, Miloslava Kramná, Virginie Rozée, Elise de La Rochebrochard, Kristina Löfgren, Céline Miani, Stephanie Batram‐Zantvoort, Antigoni Sarantaki, Dimitra Metallinou, Aikaterini Lykeridou, Ilana Chertok, Rada Artzi‐Medvedik, Marzia Lazzerini, Emanuelle Pessa Valente, Ilaria Mariani, Arianna Bomben, Stefano Delle Vedove, Sandra Morano, Antonella Nespoli, Simona Fumagalli, Elizabete Pumpure, Dace Rezeberga, Dārta Jakovicka, Gita Jansone‐Šantare, Anna Šibalova, Elīna Voitehoviča, Dārta Krēsliņa, Alina Liepinaitienė, Andželika Kondrakova, Marija Mizgaitienė, Simona Juciūtė, Maryse Arendt, Barbara Tasch, Enrico Lopriore, Thomas Van den Akker, Ingvild Hersoug Nedberg, Sigrun Kongslien, Eline Skirnisdottir Vik, Barbara Baranowska, Urszula Tataj‐Puzyna, Beata Szlendak, Paulina Pawlicka, Raquel Costa, Catarina Barata, Teresa Santos, Heloísa Dias, Tiago Miguel Pinto, Sofia Marques, Ana Meireles, Joana Oliveira, Mariana Pereira, Maria Arminda Nunes, Marina Ruxandra Otelea, Jelena Radetić, Jovana Ružičić, Zalka Drglin, Anja Bohinec, Serena Brigidi, Alejandra Oliden, Lara Martín Castañeda, Helen Elden, Karolina Linden, Mehreen Zaigham, Claire de Labrusse, Alessia Abderhalden‐Zellweger, Anouck Pfund, Harriet Thorn, Susanne Grylka, Michael Gemperle, Antonia Mueller, Emma Sacks +132 morewiley +1 more sourceE o estigma atravessa a barreira placentária...
Debates em Psiquiatria, 2014
Decidir se devem continuar a tomar ou não medicações durante a gravidez é uma escolha complexa para as mulheres e os seus prestadores de cuidados de saúde.Amaury Cantilino , Joel Rennó Jr, Hewdy Lobo Ribeiro , Juliana Pires Calvasan, Renata Demarque , Jerônimo de A. Mendes Ribeiro , Gislene Valadares, Renan Rocha , Antônio Geraldo da Silva +8 moredoaj +1 more sourceEmployment Status Among Brazilian Women With Estrogen Receptor‐Positive Nonmetastatic Breast Cancer
Cancer Medicine, Volume 14, Issue 21, November 2025.A significant proportion of breast cancer survivors (nearly 1/3) stopped and did not return to work within two years postdiagnosis, with treatment in public hospitals, lower education, younger age, and prolonged treatment associated with a higher risk of job loss.Daniele Assad‐Suzuki, Luciana Castro Garcia Landeiro, Danielle Laperche‐Santos, Heloisa Resende, Fernanda Cesar Moura, Sulene Cunha Sousa Oliveira, Andrea Kazumi Shimada, Renata Arakelian, Anna Luiza Zapalowski Galvão, Bruno Santos Wance de Souza, Amanda Guimarães Castro Custódio, Monalisa Ceciliana Freitas Moreira de Andrade, Yuri Cardoso Rodrigues Beckedorff Bittencourt, Maria Cristina Figueroa Magalhães, Cristiano de Pádua Souza, Carlos Eduardo Paiva, Poliana Albuquerque Signorini, Ariane Vieira Carvalho, Daniela Jessica Pereira, Laura Cereser Albaneze, Angélica Nogueira‐Rodrigues, Daniela Dornelles Rosa, Romualdo Barroso‐Sousa +22 morewiley +1 more sourcePromoção da autonomia da mulher na saúde da família [PDF]
, 2012 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde. Programa de Pós-Graduação em EnfermagemIntrodução: Este estudo teve como objetivo compreender se a Consulta de Enfermagem está voltada para ações de Promoção da Durand, Michelle Kuntzcore One‐Year Quality of Life Among Survivors of Hospitalization for Omicron Infection in Brazil: A Multicentre Prospective Cohort Study
Journal of Medical Virology, Volume 97, Issue 11, November 2025.ABSTRACT
The lingering effects of COVID‐19 may impair survivors' long‐term health‐related quality of life (HRQoL). However, multicentre studies focusing on the Omicron variant, particularly in middle‐ and low‐income settings, are scarce. We conducted a prospective cohort study across 24 Brazilian hospitals between December 2021 and March 2024, when ...Geraldine Trott, Marciane Maria Rover, Fernando Luis Scolari, Mariana Motta Dias da Silva, Denise de Souza, Rosa da Rosa Minho dos Santos, Raíne Fogliati De Carli, Emelyn de Souza Roldão, Gabriela Soares Rech, Duane Mocellin, Jennifer Menna Barreto de Souza, Aline Paula Miozzo, Carolina Rothmann Itaqui, Gabrielle Nunes da Silva, Sergio Renato da Rosa Decker, Erica Neves Leite, Carlos Delmar do Amaral Ferreira, Lucas Gobetti da Luz, Gabriel Beilfuss Rieth, Lucas Tramujas, Fernando Azevedo Medrado, Bruna Fornazieri Piotto, Gizelle Fernanda Oliveira Silva, Josafá Ferreira Chaves, Saionara Cristina Francisco, Precil Diego Miranda de Menezes Neves, Victor Augusto Hamamoto Sato, Viviane Cordeiro Veiga, Kaique Lima Martins, Cláudio Dornas de Oliveira, Sabrina Gomes dos Santos, Juliana Cardozo Fernandes, Thiago Costa Lisboa, Vivian Menezes Irineu, Mauricio Antonio Pompilio, Adriana de Oliveira França, Aline Coletto Jaccottet, Juliana Carvalho Schleder, Vinicius Ortigosa Nogueira, Vandack Nobre, Daniel Souto Silveira, Cézar Eumann Mesas, Diego Miltersteiner, Emanuelle Toledo Ortiz, Fernando Gioppo Blauth, Luciane Maria Facchi, Milena Soriano Marcolino, Ana Carolina Peçanha Antonio, Paulo R. Schvartzman, Bruna Brandão Barreto, Caroline Cabral Robinson, Maicon Falavigna, Carisi Anne Polanczyk, Luiz Antonio Nasi, Regis Goulart Rosa, Post‐Covid Brasil 1 Group Autorship +55 morewiley +1 more sourceEscalas clínicas em saúde mental da mulher: uso de instrumentos de autoavaliação em transtornos mentais prevalentes no período perinatal
Debates em Psiquiatria, 2014
O uso de escalas na prática clínica é bastante conhecido e pode ser útil quando os instrumentos são utilizados como parte do processo de avaliação diagnóstica, na identificação da presença ou ausência de um determinado transtorno, no monitoramento do ...Jeronimo Mendes-Ribeiro, Joel Rennó Jr., Hewdy Lobo Ribeiro, Gislene Cristina Valadares, Amaury Cantilino, Renata Demarque, Renan Rocha, Antônio Geraldo da Silva, Luciano Minuzzi +8 moredoaj +1 more source
