Results 31 to 40 of about 37,557 (132)

Prevalência de Cardiopatias Congénitas em Portugal em 2015: Dados do Registo Nacional de Anomalias Congénitas

Acta Médica Portuguesa, 2020
Introdução: A prevalência de cardiopatias congénitas em Portugal é de 8,3/1000 nascimentos; cardiopatias congénitas críticas não detectadas podem resultar em graves consequências para o feto/recém-nascido. O objectivo deste trabalho é descrever os casos
Isabel Saraiva de Melo, Paula Braz, Rita Roquette, Paulo Sousa, Carla Nunes, Carlos Dias   +5 more
doaj   +1 more source

Frecuencia de anomalías congénitas en el Instituto Materno Infantil [PDF]

, 2001
Determinar y analizar las frecuencias de anomalías congénitas en el Instituto Materno Infantil de ...
A. Giraldo, Arteaga, C., H. A. García, Giraldo, A., C. Arteaga, García, H. A., G. A. Salguero, Salguero, G. A.   +7 more
core   +1 more source

Incidencia de anomalías congénitas en la red hospitalaria de Iquitos, Perú, 2010 [PDF]

, 2015
De 10374 recién nacidos atendidos en el periodo comprendido entre el 1 de enero al 31 de diciembre de 2010, en los servicios de Neonatología de los hospitales Apoyo Iquitos, Regional de Loreto e Iquitos EsSalud, 277 (2,7%) presentaron anomalías ...
Sanchéz Arena, José, Silva Delgado, Hermann, López Liñán, Renzo   +2 more
core   +1 more source

Anomalías congénitas en los recién nacidos del Hospital Escuela Oscar Danilo Rosales Argüello

, 2020
Tesis (Dr. Especialista en Pediatría)-Universidad Nacional Autónoma de Nicaragua, LeónLas anomalías congénitas son un problema relevante de salud pública a razón de ser una de las principales causas de muerte en niños menores de un año, en Nicaragua, las
Muñoz Castillo, Flor de María
core   +1 more source

Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera

Revista de la Facultad de Medicina, 2016
Antecedentes. La distrofia muscular cintura-cadera tipo 1B es una enfermedad con herencia autosómica dominante y secundaria a una mutación en el gen LMNA. Esta enfermedad se caracteriza por su afectación a nivel neuromuscular y cardiaco.
Andrés Felipe Ramírez-Botero, Leidy Johanna Posso-Gómez, Andrés Castillo, Carmen Collado, Victoria Fernández-Pedrosa, Oscar Rodríguez-Cruz, Sergio Lois, Maria Teresa Gil, Jairo Alonso Quiñones, Harry Pachajoa   +9 more
doaj   +1 more source

Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais

Epidemiologia e Serviços de Saúde, 2021
Resumo Objetivo: Identificar registros de anomalias congênitas com cobertura nacional existentes no mundo, destacando suas principais características históricas e operacionais.
Augusto César Cardoso-dos-Santos, Ruanna Sandrelly de Miranda Alves, Ana Cláudia Medeiros-de-Souza, João Matheus Bremm, Julia do Amaral Gomes, Ronaldo Fernandes Santos Alves, Valdelaine Etelvina Miranda de Araujo, Giovanny Vinícius Araújo de França   +7 more
doaj   +2 more sources

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

CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9

Cells
Lysosomal storage disorders (LSDs) are inherited metabolic conditions characterized by lysosomal enzyme deficiencies leading to substrate accumulation.
Andrés Felipe Leal, Luis Eduardo Prieto, Harry Pachajoa   +2 more
doaj   +1 more source

Adverse pregnancy outcome in fetuses with early increased nuchal translucency: prospective cohort study

Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 2, Page 164-172, August 2024.
ABSTRACT Objectives An increased nuchal translucency (NT) thickness of ≥ 3.5 mm is a well‐established marker for congenital anomalies and adverse pregnancy outcome between 11 and 14 weeks' gestation, but little is known about its performance as a screening tool before 11 weeks.
B. B. Bet, M. A. Lugthart, I. H. Linskens, M. C. van Maarle, E. van Leeuwen, E. Pajkrt   +5 more
wiley   +1 more source

Role of artificial‐intelligence‐assisted automated cardiac biometrics in prenatal screening for coarctation of aorta

Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 1, Page 36-43, July 2024.
ABSTRACT Objective Although remarkable strides have been made in fetal medicine and the prenatal diagnosis of congenital heart disease, around 60% of newborns with isolated coarctation of the aorta (CoA) are not identified prior to birth. The prenatal detection of CoA has been shown to have a notable impact on survival rates of affected infants.
C. A. Taksøe‐Vester, K. Mikolaj, O. B. B. Petersen, N. G. Vejlstrup, A. N. Christensen, A. Feragen, M. Nielsen, M. B. S. Svendsen, M. G. Tolsgaard   +8 more
wiley   +1 more source