Results 51 to 60 of about 99,772 (304)

Quality of life in children with infrequent congenital heart defects: cohort study with one-year of follow-up

Health and Quality of Life Outcomes, 2020
Background The evidence regarding patient related outcomes in children with infrequent congenital heart defects (I-CHD) is very limited. We sought to measure quality of life (QoL) in children with I-CHD, and secondarily, to describe QoL changes after one-
Karen Moreno-Medina, Magally Barrera-Castañeda, Catalina Vargas-Acevedo, Alberto E. García-Torres, Miguel Ronderos, Manuel Huertas-Quiñones, Silvana Cabrera, María Teresa Domínguez, Nestor Sandoval Reyes, Rodolfo J. Dennis   +9 more
doaj   +1 more source

Utility of deep learning networks for the generation of artificial cardiac magnetic resonance images in congenital heart disease

BMC Medical Imaging, 2020
Background Deep learning algorithms are increasingly used for automatic medical imaging analysis and cardiac chamber segmentation. Especially in congenital heart disease, obtaining a sufficient number of training images and data anonymity issues remain ...
Gerhard-Paul Diller, Julius Vahle, Robert Radke, Maria Luisa Benesch Vidal, Alicia Jeanette Fischer, Ulrike M. M. Bauer, Samir Sarikouch, Felix Berger, Philipp Beerbaum, Helmut Baumgartner, Stefan Orwat, for the German Competence Network for Congenital Heart Defects Investigators   +11 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Cyanotic Congenital Heart Defects – literature review

, 2017
Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects.
Vlad Drăgoi, Răzvan V. Scăunașu, Irina A. Horhoianu, Monica Cîrstoiu   +3 more
core   +1 more source

Critical Congenital Heart Defects and Pulse Oximetry [PDF]

, 2014
Congenital heart defects cause nearly one-quarter of deaths due to birth defects in infants. Nearly 5,000 babies are born each year with seven specific Critical Congenital Heart Defects or Critical Congenital Heart Disease (CCHD).
Walker, Chris
core   +1 more source

Two recurrent fetal congenital heart defects original data.zip

, 2023
The data containing the Sanger sequencing original results and  ultrasonic image of two cases with recurrent fetal congenital heart defects.
Ya Tan (6861086), Rongqin Cai (14585258)
core   +1 more source

Transcatheter closure of patent ductus arteriosus in infants weighing less than 6 kilograms – a two-center experience. Technical considerations

Cardiology Journal
BACKGROUND: Transcatheter closure has become the method of choice for treating patent ductus arteriosus (PDA) in a majority of patients. The only approved device for treating infants weighing less than 6 kilograms is the Amplatzer Piccolo Occluder (APO).
Michał Gałeczka, Michał Kapałka, Maciej Chojnicki, Michał Krawiec, Filip Tyc, Roland Fiszer   +5 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Critical Congenital Heart Defects Screening on Newborns

, 2021
The purpose of this regulation is to provide requirements regarding screening of newborns for critical congenital heart ...
South Carolina Department of Health and Environmental Control
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source