Results 41 to 50 of about 916,354 (247)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Immediate, Short, Intermediate and Long-Term Results of Balloon Valvuloplasty in Congenital Pulmonary Valve Stenosis

Acta Medica Iranica, 2013
Transluminal balloon valvuloplasty is an alternative to surgical valvotomy for congenital pulmonary valve stenosis. The aim of this study was to evaluate the long term results (to 13.5 years) of balloon pulmonary valvuloplasty.
Mostafa Behjati-Ardakani, Seyed Khalil Forouzannia, Mohammad Hassan Abdollahi, Mohammadtaghi Sarebanhassanabadi   +3 more
doaj   +2 more sources

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Classical supravalvar aortic stenosis and peripheral pulmonary stenosis [PDF]

, 2014
Supravalvar aortic stenosis as well as peripheral pulmonary stenosis are rare forms of congenital heart disease, which occur, however, relatively frequently in association.
Ramakrishnan, S., Gupta, S.K., Kahr, P.C., Kothari, Shyam S.   +3 more
core  

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Comparative treatment effects of direct oral anticoagulants versus warfarin for nonvalvular atrial fibrillation in clinical practice vary over time due to channelling

British Journal of Clinical Pharmacology, EarlyView.
Aim Temporal shifts in patient characteristics can influence comparative treatment effects within a certain indication. We investigated patient characteristics and comparative effectiveness and safety for direct oral anticoagulants (DOACs) and warfarin over the time period where DOACs replaced warfarin as preferred stroke prophylaxis in patients with ...
Raoul B. L. J. van den Hemel, Aernoud T. L. Fiolet, Magdalena A. Gamba, Patrick C. Souverein, Olaf H. Klungel, Lourens T. Bloem, Sophie H. Bots   +6 more
wiley   +1 more source

Pulmonary valvulotomy in a fetus with pulmonary atresia with intact ventricular septum : first experience in Turkey [PDF]

, 2012
The mortality and morbidity of children with pulmonary atresia with intact ventricular septum (PA/IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics.
Polat, Tugcin Bora, Danısman, N.
core  

Compliant hydrogel cuff coating with real‐time pressure monitoring and antibiofilm capabilities for ventilator‐associated pneumonia prophylaxis

BMEMat, EarlyView.
A soft‐compliant hydrogel cuff coating combines real‐time pressure monitoring with intrinsic antibacterial activity for prophylaxis of ventilator‐associated pneumonia. A flexible pressure‐sensing patch is embedded in the coating to enable wireless dynamic monitoring of endotracheal cuff pressure through Bluetooth.
Jin Chai, Yifu Tan, Jiaheng Liang, Shen Liu, Jiabin Zhao, Shanbo Ma, Chunxin Liu, Minghua Du, Mark Selvan, Xiaopeng Shi, Liqiang Song, Peng Li   +11 more
wiley   +1 more source

Pulmonary valve and supravalvular membrane fusion: a case report

Journal of Cardiothoracic Surgery
Background Isolated congenital supravalvular pulmonary stenosis is an exceedingly rare cardiac anomaly, typically characterized by a discrete membrane above the valve obstructing the main pulmonary artery.
Xia Chen, Aoli Huang, Xujing Zhu, Renyuan Li   +3 more
doaj   +1 more source

Clinical Anatomy of the Left and Right Atrial Appendages in Humans: Comparative and Developmental Perspective

Clinical Anatomy, EarlyView.
ABSTRACT Human atrial chambers derive from distinct embryonic anlagens, the original embryonic atria gradually transforming into the so‐called auricles, or atrial appendages. This study quantifies macroscopic variations in pectinate muscle architecture in human atrial appendages and evaluates their visualization using clinical imaging modalities.
Markéta Lexová, Caroline Neradilová, Jan Kovanda, Jan Burkert, Jiří Beneš Jr., Martin Bartos, Theodor Adla, Vojtech Melenovsky, Alena Kvasilova, Ondrej Fabian, Ondrej Naňka, David Sedmera   +11 more
wiley   +1 more source