Results 51 to 60 of about 392,708 (198)

Actualización en el diagnóstico bioquímico de la enfermedad de Wilson

Advances in Laboratory Medicine, 2022
La enfermedad de Wilson (EW) es un trastorno hereditario del metabolismo del cobre causado por mutaciones en el gen ATP7B, en el que se produce la acumulación de este elemento en el hígado y otros órganos y tejidos de los pacientes afectados, provocando ...
Martínez-Morillo Eduardo, Bauça Josep Miquel,   +2 more
doaj   +1 more source

Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 27-33, January 2026.
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest, E. E. R. Lust, S. C. E. Zaaijer, L. Henneman, N. Crombag, C. M. Bilardo, R.‐J. H. Galjaard, E. Sikkel, A. K. K. Teunissen, M. N. Bekker, M. C. Haak, Collaborators, A. B. C. Coumans, A. Elvan‐Taşpınar, S. Galjaard, A. T. J. I. Go, E. van Leeuwen, G. T. R. Manten, E. Pajkrt   +18 more
wiley   +1 more source

Pulse oximetry screening of critical congenital heart defects in the neonatal period. The Spanish National Neonatal Society recommendation

Anales de Pediatría (English Edition), 2018
Due to its severity, as well as the consequences of a late diagnosis, critical congenital heart defects (CCHD) represent a challenging situation, making an early diagnosis necessary and ideally before symptoms appear when circulatory collapse or death of
Manuel Sánchez Luna, Alejandro Pérez Muñuzuri, Ester Sanz López, José Luis Leante Castellanos, Isabel Benavente Fernández, César W. Ruiz Campillo, M. Dolores Sánchez Redondo, Máximo Vento Torres, Segundo Rite Gracia   +8 more
doaj   +1 more source

Prenatal evaluation, diagnosis and management of fetal corpus callosal abnormalities: international Delphi consensus

Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 5, Page 582-588, November 2025.
ABSTRACT Objective The corpus callosum (CC) is an interhemispheric structure that facilitates communication between the two cerebral hemispheres. Anomalies of the CC are frequent and associated with a wide spectrum of altered neurodevelopmental outcomes.
R. Corroenne, D. Paladini, I. Papastefanou, R. Chaoui, L. Pomar, L. Guibaud, K. Krajden Haratz, R. K. Pooh, M. Herrera, R. Ximenes, G. Azumendi, G. Pilu, L. J. Salomon, Collaborators, G. Turkyilmaz, D. L. Rolnik, W. Sepulveda, G. Rizzo, R. Llorens, S. Meagher, B. Tutschek, M. Aertsen, S. Agarwal, T. Tarui, E. Scola, D. Pretorius, A. Henry, J. Binder, E. R. Guzman, C. Rodo, A. Schiattarella, K. Grossman, S. Bakalis, J. Pascual‐Mancho, E. Eixarch, P. Galati, D. Bittencourt Sodré Barmpas, M. Savvidou, B. M. E. Adriaanse, M. T. Izquierdo, V. Cecotti, N. Sananès, D. Muresan, D.‐G. Iliescu, V. Faure‐Bardon, R. Has, C. Batukan, S. Ahmet Erol, A. Seval Ozgu‐Erdinc, B. Kapudere, E. Toprak, M. Akalin, S. Özeren, H. Golbasi, B. Kaya, B. Strizek   +55 more
wiley   +1 more source

Programa poblacional de cribado de sordera neonatal en Galicia: organización y resultados 2002-2007

, 2008
La detección precoz del déficit auditivo en el periodo neonatal permite instaurar un programa de rehabilitación temprana para mejorar la capacidad de comunicación de los niños afectados por déficit de audición.
Corujo Quinteiro, Montserrat, Zubizarreta Alberdi, Raquel, Almazán Ortega, Raquel, Vizoso Villares, Ramón, Parente Arias, Pablo, Amigo Quintana, Manuel, Fernández Llanes, Ana Belén, García Carreira, Belén   +7 more
core   +1 more source

Triagem neonatal: o conhecimento materno em uma maternidade no interior do Paraná, Brasil El cribado neonatal: conocimiento del madres en un maternidad en el interior del Paraná, Brasil Neonatal screening: mother knowledge in a maternity inside the Paraná, Brazil

Revista Gaúcha de Enfermagem, 2011
Estudo transversal, quantitativo, realizado no Alojamento Conjunto de um hospital de médio porte, no interior do Paraná do qual fizeram parte 40 puérperas maiores de 18 anos. Teve como objetivo analisar o conhecimento desta população sobre a finalidade e
Isabella Schroeder Abreu, Welligton Luciano Braguini   +1 more
doaj   +1 more source

Role of aspirin therapy in modulating uterine artery resistance and placental growth between first and second trimesters of pregnancy

Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 5, Page 641-648, November 2025.
ABSTRACT Objective To evaluate the impact of low‐dose aspirin (LDA) on placental size and uterine artery pulsatility index (UtA‐PI) by analyzing longitudinal changes between the first and second trimesters in pregnancies at high risk for early‐onset pre‐eclampsia (PE).
C. Trilla, J. Platero, J. Mora, M. N. Nan, C. Medina, O. Alejos, J. Parra, E. Llurba   +7 more
wiley   +1 more source

Programa de Cribado Neonatal del Principado de Asturias: Programa de detección precoz de enfermedades endocrino-metabólicas en el periodo neonatal. mediante la "Prueba el talón" [PDF]

, 2014
Gobierno del Principado de AsturiasDocumento del programa de Cribado Neonatal del Principado de ...
Díaz Martín, Juan José, De Miguel Mallén, Ángeles   +1 more
core  

Evaluación de las pruebas genéticas relacionadas con la hipoacusia y su rol en el cribado poblacional neonatal [PDF]

Hipoacúsia; Proves genètiques; Cribratge neonatalHipoacusia; Pruebas genéticas; Cribado neonatalHearing loss; Genetic testing; Newborn screeningL’objectiu general d’aquest informe d’avaluació de tecnologies sanitàries (ATS, en espanyol ETS) és l ...
Claveria, Maria A., Estrada-Sabadell, Maria-Dolors, Llinàs Mallol, Laura, Torres-Pagès, Guillem, Vivanco-Hidalgo, Rosa Maria, Pellicer Sarasa, Marc, Gallastegui Calvache, Edurne   +6 more
core   +1 more source

Universal cervical‐length screening to prevent preterm birth in twin pregnancy: cost‐utility analysis

Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 3, Page 290-297, September 2025.
ABSTRACT Objective The purpose of this cost‐utility analysis was to model the clinical and economic impact of three cervical‐length screening strategies among low‐risk twin pregnancies: two‐step universal screening (at 18–20 and 20–22 weeks), one‐step universal screening (at 18–20 weeks) and no screening.
Y. Khaikin, R. A. Gladstone, K. E. Murphy, N. Melamed, P. Pechlivanoglou   +4 more
wiley   +1 more source