Results 41 to 50 of about 1,012,141 (344)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

The use of Macitentan in Fontan circulation: a case report

BMC Cardiovascular Disorders, 2017
Background The Fontan circulation, a result of a palliative procedure in patients with single systemic ventricles, is defined by chronically elevated pulmonary vascular resistance.
Polyvios Demetriades, Amir Aziz, Robin Condliffe, Sarah E. Bowater, Paul F. Clift   +4 more
doaj   +1 more source

Assessment of left ventricular systolic function using two- and three-dimensional speckle tracking echocardiography among healthy preschool-age pediatric children

The Egyptian Heart Journal, 2022
Background Accurate measurements of left ventricular (LV) volumes and function are important in the management of patients with various cardiac abnormalities.
Heba Kamel, Ayah Tarek Elsayegh, Hany Nazmi, Hebatallah Mohamed Attia   +3 more
doaj   +1 more source

Riemannian Prediction of Anatomical Diagnoses in Congenital Heart Disease based on 12-lead ECGs [PDF]

arXiv, 2023
Congenital heart disease (CHD) is a relatively rare disease that affects patients at birth and results in extremely heterogeneous anatomical and functional defects. 12-lead ECG signal is routinely collected in CHD patients because it provides significant biomarkers for disease prognosis.
arxiv  

Advanced Medical Use of Three-Dimensional Imaging in Congenital Heart Disease: Augmented Reality, Mixed Reality, Virtual Reality, and Three-Dimensional Printing

Korean Journal of Radiology, 2020
Three-dimensional (3D) imaging and image reconstruction play a prominent role in the diagnosis, treatment planning, and post-therapeutic monitoring of patients with congenital heart disease.
H. Goo, Sang Joon Park, S. Yoo
semanticscholar   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Systemic right ventricle in elderly patients with congenitally corrected transposition of the great arteries: Clinical profile, cardiac biomarkers, and echocardiographic parameters

Anatolian Journal of Cardiology, 2020
Objective: The number of patients with congenitally corrected transposition of the great arteries (ccTGA) surviving to old age is increasing. This study therefore sought to characterize 'geriatric' systemic right ventricle (sRV) in terms of clinical ...
Ewa Kowalik, Anna Kwiatek-Wrzosek, Anna Klisiewicz, Anna Lutynska, Elzbieta Katarzyna Biernacka, Miroslaw Kowalski, Piotr Hoffman   +6 more
doaj   +1 more source

Maternal Obesity and Diabetes Mellitus as Risk Factors for Congenital Heart Disease in the Offspring

Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2020
Congenital heart disease (CHD) is the most common anatomical malformation occurring live‐born infants and an increasing cause of morbidity and mortality across the lifespan and throughout the world.
E. Helle, J. Priest
semanticscholar   +1 more source

Real‐time cardiovascular MR with spatio‐temporal artifact suppression using deep learning–proof of concept in congenital heart disease [PDF]

Magnetic Resonance in Medicine, 2018
Real‐time assessment of ventricular volumes requires high acceleration factors. Residual convolutional neural networks (CNN) have shown potential for removing artifacts caused by data undersampling.
A. Hauptmann, S. Arridge, F. Lucka, V. Muthurangu, J. Steeden   +4 more
semanticscholar   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source