Results 121 to 130 of about 392,608 (388)

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +3 more sources

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Immersed boundary-finite element model of fluid-structure interaction in the aortic root [PDF]

, 2015
It has long been recognized that aortic root elasticity helps to ensure efficient aortic valve closure, but our understanding of the functional importance of the elasticity and geometry of the aortic root continues to evolve as increasingly detailed in ...
A. Cheng, A. Creane, A. Delfino, A. Wittek, A.N. Azadani, Abe DeAnda, B.E. Griffith, B.E. Griffith, B.E. Griffith, B.E. Griffith, B.E. Griffith, B.E. Griffith, B.J. Bellhouse, Boyce E. Griffith, C.A. Conti, C.S. Peskin, C.S. Peskin, C.S. Peskin, C.S. Peskin, D.M. McQueen, D.M. McQueen, E. Lansac, E.J. Weinberg, F. Sotiropoulos, F. Viscardi, G. Marom, H. Gao, H. Reul, I. Borazjani, I. Borazjani, I.M. Singh, J. De Hart, J. Lu, J. Yao, J.A. Carr, J.D. Humphrey, J.P. Murgo, K. Dumont, K. May-Newman, K.A. Shunk, L. Cardamone, L. Zhu, L.R. Croft, M. Esmaily Moghadam, M. Sellier, M. Thubrikar, M.S. Sacks, M.W. Gee, N. Stergiopulos, N. Westerhof, P. Crosetto, P. Dagum, R. Cheng, R.D. Guy, R.N. Vaishnav, R.O. Bonow, R.V. Freeman, S. de Putter, S. Govindjee, S.J. Kovács, T.C. Gasser, T.E. Driscol, T.G. Fai, V. Alastrué, V. Alastrué, V. Vavourakis, Vittoria Flamini, W.M. Swanson, W.W. Nichols, X.S. Ma, X.Y. Luo, Y. Kim, Y. Mori, Y.C. Fung, Y.C. Fung   +74 more
core   +3 more sources

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

POLYMORPHISMS OF MATRIX METALLOPROTEASES 2 AND 9 GENES IN ASCENDING AORTA ANEURISM PATIENTS

Российский кардиологический журнал, 2015
Aim. To study the role of mononucleotide polymorphisms of the matrix metalloproteases genes MMP2 and MMP9 in the development of ascending aorta aneurism (AOA).Material and methods.
N. D. Gavrilyuk, O. B. Irtyuga, T. A. Druzhkova, V. E. Uspensky, A. B. Malashicheva, A. A. Kostareva, O. M. Moiseeva   +6 more
doaj   +1 more source

Study of the correlation between bicuspid aortic valve and the development of aortic dissection [PDF]

, 2017
La disección aórtica (AD) es la condición letal más comúnmente diagnosticada de la arteria aorta y consiste en el redireccionamiento del flujo sanguíneo desde el lumen de la aorta hasta la media de la pared de la aorta a través de una pequeña fisura en ...
Ruiz Jiménez, Elvira
core  

Thoracic and abdominal aortic dimension in 70-year-old men and women – A population-based whole-body magnetic resonance imaging (MRI) study [PDF]

, 2008
ObjectiveThe aim of this population-based study was to determine the optimal dividing-line between normal aorta and aneurysm for different aortic segments in 70-year-old men and women by means of whole-body magnetic resonance imaging.MethodsTwo hundred ...
Ahlström, Håkan, Johansson, Lars, Lind, Lars, Themudo, Raquel, Wanhainen, Anders   +4 more
core   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Abnormal wave reflections and left ventricular hypertrophy late after coarctation of the aorta repair [PDF]

, 2017
Patients with repaired coarctation of the aorta are thought to have increased afterload due to abnormalities in vessel structure and function. We have developed a novel cardiovascular magnetic resonance protocol that allows assessment of central ...
Khushnood, Abbas, Muthurangu, Vivek, Pandya, Bejal, Quail, Michael A, Segers, Patrick, Short, Rebekah, Steeden, Jennifer A, Taylor, Andrew M   +7 more
core   +2 more sources

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source