Results 61 to 70 of about 169,754 (308)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Maternal and perinatal outcomes in adolescents and women with advanced maternal age [PDF]

Revista de Saúde Pública
OBJECTIVE: To analyze the association between age extremes and maternal and perinatal outcomes in births in the state of Rio de Janeiro, Brazil. METHODS: Data from the Birth in Brazil II: National Survey on Abortion, Delivery, and Birth (2021–2023) were
Silvana Granado Nogueira da Gama, Arthur Orlando Corrêa Schilithz, Maria do Carmo Leal, Talita Teresa do Carmo, Mariza Miranda Theme-Filha, Denise Cavalcante de Barros, Glauce Cristine Ferreira Soares, Katrini Guidolini Martinelli   +7 more
doaj   +1 more source

Nutritional Status of Adolescent Girls from Rural Communities of Tigray, Northern Ethiopia [PDF]

, 2009
Background: Addressing the nutritional needs of adolescents could be an important step towards breaking the vicious cycle of intergenerational malnutrition. Objective: Assess nutritional status of rural adolescent girls. Design: Cross-sectional. Methods:
Girmay, G., Hagos, F., Kruseman, G., Linderhof, V.G.M., Mekonen, Y., Mulugeta, A., Stroecker, B., Zenebe, A.   +7 more
core   +3 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Análise metafórico-metonímica do processo de constituição do pensamento da saúde pública acerca da adolescente grávida: os anos 60 Metaphorical/metonymical analysis of public health thinking vis-à-vis teenage pregnancy in the 1960s

Cadernos de Saúde Pública, 1998
O presente artigo constitui-se num ensaio de análise de um momento histórico do processo de formação do pensamento da saúde pública acerca da adolescente grávida: os anos 60.
Alberto Olavo Advincula Reis
doaj   +1 more source

Targeted youth support: Rapid Evidence Assessment of effective early interventions for youth at risk of future poor outcomes [PDF]

, 2008
This report describes the findings and methods of a systematic rapid evidence assessment (REA) of research relevant to interventions of interest to Targeted Youth Support. It was commissioned by the Department for Children, Schools and Families (DCSF) to
Dickson, Kelly, Newman, Mark, Oliver, Kathryn, Sinclair, Jennifer, Suarez, Bettina, Thomas, James, Vigurs, Carol   +6 more
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Adolescent Sexual Health and the Dynamics of Oppression: A Call for Cultural Competency [PDF]

, 2003
This paper encourages those who work with youth to understand the impact of prejudice and discrimination on vulnerable adolescents, to assess and address their needs, and to build on their assets.
L. Laura Davis
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source