Results 101 to 110 of about 428,935 (296)

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

2.2 RE-REFLECTION OF BACKWARD PROPAGATING WAVES LEADS TO AMPLIFICATION OF THE FORWARD PRESSURE WAVE IN WAVE SEPARATION ANALYSIS

Artery Research, 2015
Introduction: In wave separation analysis, the pressure wave is decomposed into a single forward and backward component, which actually compounds all forward and backward propagating waves.
Patrick Segers*, Liesbeth Taelman, Joris Degroote, Jan Vierendeels   +3 more
doaj   +1 more source

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

Human Molecular Genetics, 2015
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult.
F. Quintero-Rivera, Qiongchao J. Xi, K. Keppler-Noreuil, J. Lee, A. Higgins, R. Anchan, A. Roberts, I. Seong, Xueping Fan, K. Lage, Lily Y. Lu, Joanna Tao, Xuchen Hu, R. Berezney, B. Gelb, A. Kamp, I. Moskowitz, R. Lacro, Weining Lu, C. Morton, J. Gusella, R. Maas   +21 more
semanticscholar   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Endovascular Treatment for Pseudoaneurysms after Surgical Correction of Aortic Coarctation [PDF]

, 2011
Martín Rabellino, Tobías Zander, G. González, S. Baldi, H. Cheves, A Estigarribia, R. Llorens, José M. Carreira, Manuel Maynar   +8 more
openalex   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Pulmonary Vascular Endothelial Cells in Lung Diseases: Mechanisms, Therapeutic Strategies, and Future Directions

Cell Proliferation, EarlyView.
The pathogenic mechanisms of pulmonary vascular endothelial cells (VECs) in lung diseases and their multimodal therapeutic strategies. ABSTRACT Pulmonary vascular endothelial cells (VECs) are essential for the normal function of the lung, through maintaining vascular barrier integrity, regulating blood flow, and participating in inflammatory responses ...
Qianyue Liu, Hongshuai Zheng, Jing Liu, Ming Gao, Faquan Lin, Lin Liao   +5 more
wiley   +1 more source

A severe coarctation of aorta in a 52-year-old male: a case report

International Journal of Medical Sciences, 2010
Aortic coarctation is a congenital malformation of the aorta usually diagnosed and corrected early in life. Long-term survival is exceptional in patients with untreated aortic coarctation.
Davran Cicek, Cevahir Haberal, Suleyman Ozkan, Haldun Muderrisoglu
doaj  

Safety, Efficacy and Treatment Patterns of rIX‐FP in Previously Untreated Paediatric Haemophilia B Patients: A Retrospective Chart Review in Japan

Haemophilia, EarlyView.
Abstract Background Limited real‐world data exist on recombinant fusion protein‐linking coagulation factor IX (FIX) with albumin (rIX‐FP) in paediatric previously untreated patients (PUPs) with haemophilia B, particularly in infants. Aims To evaluate the treatment patterns, safety and efficacy of rIX‐FP in paediatric PUPs in Japan.
Keiji Nogami, Chiai Nagae, Masatoshi Yono, Naoki Terasaka   +3 more
wiley   +1 more source