Results 61 to 70 of about 18,976 (259)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Coarctação da aorta: resultados da cirurgia e análise crítica de diversas técnicas Coarctation of the aorta: surgical results and critical analysis of several techniques

Brazilian Journal of Cardiovascular Surgery, 1989
Setenta pacientes com idade variável de 14 dias a 49 anos (média 7,6 anos) foram submetidos à correção cirúrgica da coarctação da aorta. Vinte e seis (37,1%) estavam no primeiro ano de vida.
Carlos R Moraes, Jorge V Rodrigues, Cládio A Gomes, Euclides Tenório, Fernando Moraes Neto, Cleusa Lapa Santos, Ivan de Lima Cavalcanti   +6 more
doaj  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Does the degree of coarctation of the aorta influence wall shear stress focal heterogeneity?

, 2016
© 2016 IEEE.The development of atherosclerosis in the aorta is associated with low and oscillatory wall shear stress for normal patients. Moreover, localized differences in wall shear stress heterogeneity have been correlated with the presence of complex
Ryan, J, Winarta, K, Pathangey, G, Madhurima Vardhan, Gounley, J, John Gounley, Michael Driscoll, Randles, A, Kevin Winarta, Vardhan, M, Rafeed Chaudhury, Girish Pathangey, Driscoll, M, David Frakes, Chaudhury, R, Justin Ryan, Frakes, D, Amanda Randles   +17 more
core   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source

THE ROLE OF THE HEREDITARY PREDISPOSITION IN THE DEVELOPMENT OF AORTA COARCTATION

Вопросы современной педиатрии, 2012
As a result of examination of the families of patients with aorta coarctation the factors predisposing to this condition were established. Sixty eight patients with different localization, stenosis degree and extent of aorta coarctation were included ...
T. N. Tatarinova, A. A. Kostareva, E. V. Grekhov, O. M. Moiseeva   +3 more
doaj   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Chrysin alleviates pressure overload–induced myocardial remodeling through regulating the PI3K/AKT/NRF2 pathway–mediated oxidative stress response

Animal Models and Experimental Medicine, EarlyView.
In this study, we primarily simulated pathological myocardial remodeling induced by transverse aortic constriction surgery and found significant cardiac hypertrophy and fibrosis, characterized by deteriorated cardiac function. Oxidative stress response is considered as a pivotal pathological process, which contributes to inflammation and apoptosis of ...
Yijia Wang, Xing Feng, Shuhui Zhao, Yuchong Fu, Ao Zhang, Xiaofeng Shen, Bowen Yu, Yihao Wang, Jiahui Lin, Bing Zhang, Weiping Ji, Lianpin Wu, Xiaoling Guo   +12 more
wiley   +1 more source

Balloon Angioplasty Versus Surgical Repair of Coarctation of Aorta in Infants [PDF]

Journal of Tehran University Heart Center, 2011
Background: Coarctation of the aorta is a discrete stenosis of the proximal thoracic aorta. The common clinical pattern is congestive heart failure in infancy.
Fariba Alaei, Mohammad Yousef Arabi Moghadam, Hojat Mortaezaian, Mastaneh Alaei, Hooman Bakhshandeh   +4 more
doaj   +2 more sources

Aneurysm after subclavian flap angioplasty repair of coarctation of the aorta

, 1999
We report a case of aortic aneurysm at the site of subclavian flap angioplasty repair for coarctation of the aorta. The dilatation involved the lateral wall of the proximal descending aorta that had been constructed by the flap.
Tsang, John, Nguyen, Dao M, Tchervenkov, Christo I   +2 more
core   +1 more source