Topology-preserving augmentation for CNN-based segmentation of congenital heart defects from 3D paediatric CMR [PDF]
arXiv, 2019 Patient-specific 3D printing of congenital heart anatomy demands an accurate segmentation of the thin tissue interfaces which characterise these diagnoses. Even when a label set has a high spatial overlap with the ground truth, inaccurate delineation of these interfaces can result in topological errors.
arxiv
Self-Reported Health Experiences of Children Living with Congenital Heart Defects: Including Patient-Reported Outcomes in a National Cohort Study. [PDF]
PLoS ONE, 2016 BACKGROUND:Understanding children's views about living with congenital heart defects (CHDs) is fundamental to supporting their successful participation in daily life, school and peer relationships.
Rachel Louise Knowles +6 more
doaj +1 more source
Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]
, 1997 Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E. +2 more
core
Maternal occupational exposure and congenital anomalies [PDF]
, 2020 One in 33 infants worldwide is born with a congenital anomaly. Embryonic development is a complex process involving genetic, epigenetic, and environmental factors. Disturbances in embryonic development can lead to congenital anomalies.
Spinder, Nynke
core +2 more sources
PLoS ONE, 2016 Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide.
Firoz Abdul Samad +4 more
semanticscholar +1 more source
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome [PDF]
arXiv, 2020 Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital ...
arxiv
Frontiers in Cardiovascular MedicineWe present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible ...
Dominika Mystkowska +6 more
doaj +1 more source
Modelling survival and mortality risk to 15 years of age for a national cohort of children with serious congenital heart defects diagnosed in infancy. [PDF]
PLoS ONE, 2014 Congenital heart defects (CHDs) are a significant cause of death in infancy. Although contemporary management ensures that 80% of affected children reach adulthood, post-infant mortality and factors associated with death during childhood are not well ...
Rachel L Knowles +6 more
doaj +1 more source
Maternal Diabetes, Birth Weight, and Neonatal Risk of Congenital Heart Defects in Norway, 1994–2009
Obstetrics and Gynecology, 2016 OBJECTIVE: To investigate the association between pregestational or gestational diabetes and offspring risk of congenital heart defects and the association between large-for-gestational-age birth weight and risk of cardiac defects in offspring of ...
E. Leirgul +6 more
semanticscholar +1 more source