Results 81 to 90 of about 64,129 (312)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]

, 2007
Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L, Lewin, R, Parsons, J, Sloper, P   +3 more
core   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Changes in Serum Natriuretic Peptide Levels after Percutaneous Closure of Small to Moderate Ventricular Septal Defects

The Scientific World Journal, 2012
Background. B-type natriuretic peptide has been shown to be a very sensitive and specific marker of heart failure. In this study, we aimed to investigate the effect of percutaneous closure of ventricular septal defects with Amplatzer septal occluders on ...
Yuksel Kaya, Ramazan Akdemir, Huseyin Gunduz, Sani Murat, Orhan Bulut, İbrahim Kocayigit, M. Bulent Vatan, M. Akif Cakar, Ekrem Yeter, Harun Kilic, Mustafa Tarik Agac, Zeydin Acar   +11 more
doaj   +1 more source

Association Between Maternal Folic Acid Supplementation and Congenital Heart Defects in Offspring in Birth Cohorts From Denmark and Norway

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Evidence linking individual‐level maternal folic acid supplementation to offspring risk of congenital heart defects is lacking. We investigated whether folic acid supplementation in early pregnancy reduces offspring risk of heart defects in 2 ...
Nina Øyen, Sjurdur F. Olsen, Saima Basit, Elisabeth Leirgul, Marin Strøm, Lisbeth Carstensen, Charlotta Granström, Grethe S. Tell, Per Magnus, Stein E. Vollset, Jan Wohlfahrt, Mads Melbye   +11 more
doaj   +1 more source

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

Altering HIF-1α through 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) exposure affects coronary vessel development. [PDF]

, 2012
Differential tissue hypoxia drives normal cardiogenic events including coronary vessel development. This requirement renders cardiogenic processes potentially susceptible to teratogens that activate a transcriptional pathway that intersects with the ...
Karunamuni, Ganga, Roy, Debashish, Sloter, Eddie, Walker, Mary K, Watanabe, Michiko, Wikenheiser, Jamie, Wilson, David L   +6 more
core   +2 more sources

TWEAK/Fn14 signaling drives oxidative cardiac injury in systemic lupus erythematosus: Evidence from patient biomarker studies, lupus mouse models, and cardiomyocyte assays

Arthritis &Rheumatology, Accepted Article.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/Fn14 signaling in SLE‐related cardiomyopathy and its potential as a ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart [PDF]

, 2017
The muscular ventricular septum separates the flow of oxygenated and de-oxygenated blood in air-breathing vertebrates. Defects within it, termed muscular ventricular septal defects (VSDs), are common, yet less is known about how they arise than rarer ...
Chen, Iuan-bor D, Cochran, Rebecca S, Cormier, DePorres, Danzo, Megan T, Hutchinson, Alayna K, Jay, Patrick Y, Panzer, Adam A, Regmi, Suk D, Salm, Diana, Schulkey, Claire E, Wilson, David B, Winston, Julia B   +11 more
core   +2 more sources