Results 41 to 50 of about 733 (212)

Utilidad del cribado electrocardiográfico en población neonatal

open access: yesAnales de Pediatría, 2011
Resumen Introduccion El sindrome de QT largo congenito es una entidad poco frecuente y sin embargo causante de cerca del 10% de las muertes subitas del lactante. Se caracteriza por un intervalo QT prolongado en el electrocardiograma (ECG) basal que asocia episodios de arritmias potencialmente mortales, en general en pacientes previamente ...
M. Cruz Cañete   +5 more
openaire   +1 more source

Actualización en el diagnóstico bioquímico de la enfermedad de Wilson

open access: yesAdvances 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   +2 more
doaj   +1 more source

Longitudinal maternal hemodynamics in high‐risk pregnancies with different subtypes of pre‐eclampsia

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 5, Page 623-634, May 2026.
ABSTRACT Objective To evaluate maternal cardiac adaptation during pregnancy by comparing longitudinal hemodynamic profiles between women identified as high risk for preterm pre‐eclampsia (PE) who subsequently developed preterm PE, term PE or remained unaffected, as well as low‐risk women.
J. Lin   +10 more
wiley   +1 more source

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

open access: yesUltrasound 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   +18 more
wiley   +1 more source

Cribado de galactosemia en recién nacidos [PDF]

open access: yes, 2022
Objective: To describe the screening methods and their diagnostic utility in classic galactosemia in newborns. Method: Descriptive and documentary bibliographic review, using a total of 27 articles from databases of: PubMed; Medline, Elsevier, Scielo ...
Santamaría, Christian   +3 more
core   +2 more sources

El laboratorio clínico en la exposición al plomo: ¿del diagnóstico de intoxicaciones agudas al cribado neonatal? A propósito de dos casos

open access: yesRevista de Salud Ambiental, 2016
El papel del laboratorio clínico en relación con la exposición al plomo se ha centrado clásicamente en el diagnóstico de intoxicaciones que pusiesen en peligro la salud humana.
Elena García-González   +4 more
doaj   +2 more sources

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

open access: yesUltrasound 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   +55 more
wiley   +1 more source

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

open access: yes
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.   +6 more
core   +1 more source

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

open access: yesUltrasound 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   +7 more
wiley   +1 more source

Thyroid function in < 32 weeks gestation preterm infants

open access: yesAnales de Pediatría (English Edition), 2022
Introduction: Preterm newborns (PN) have a higher risk of thyroid dysfunction than term newborns (TN). This condition may go unnoticed in neonatal screening due to a late elevation of thyrotropin (TSH) in these patients.
Alicia Montaner-Ramón   +5 more
doaj   +1 more source

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