Results 91 to 100 of about 58,889 (281)
Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui +12 more
wiley +1 more source
Echocardiographic Detection of Supravalvular Aortic Stenosis [PDF]
Circulation, 1974 The echocardiographic features of supravalvular aortic stenosis of the segmental or hourglass variety is described for the first time. Utilizing a strip recorder and an M mode or sector scan the diameter of the aortic lumen is demonstrated to narrow at the stenotic area just distal to the aortic valve.
Joseph P. Murgo +2 more
openaire +3 more sources
A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation [PDF]
, 2023 Supravalvular aortic stenosis (SVAS) is an autosomal dominant disease resulting from elastin (ELN) haploinsufficiency. Individuals with SVAS typically develop a thickened arterial media with an increased number of elastic lamellae and smooth muscle cell (
Brengle, Bridget M +6 more
core +2 more sources
Postcardiotomy Mechanical Circulatory Support in Two Infants with Williams’ Syndrome
Case Reports in Surgery, 2014 Supravalvar aortic stenosis (SVAS) in patients with Williams’ syndrome is often accompanied by coronary, pulmonary, and even myocardial lesions and therefore associated with increased perioperative morbidity and mortality.
Constantinos A. Contrafouris +4 more
doaj +1 more source
Cellular Physiology and Biochemistry, 2020 BACKGROUND/AIMS Aortic stenosis-induced chronic pressure overload leads to cardiac dysfunction and congestive heart failure. The pathophysiological mechanisms of the myocardial impairment are multifactorial and include maladaptive β-adrenergic signaling.
S. L. B. de Souza +12 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 194, Issue 12, December 2024.Abstract We report a 17‐year‐old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder.
Jorge L. Rodriguez‐Gil +2 more
wiley +1 more source
Disorders of puberty and neurodevelopment: A shared etiology?
Annals of the New York Academy of Sciences, Volume 1541, Issue 1, Page 83-99, November 2024.Disorders of puberty result primarily from dysregulation of gonadotropin‐releasing hormone secretion in the hypothalamus. Studies have uncovered associations between pubertal timing and neurodevelopment. This review discusses the overlap between the brain circuitry controlling puberty and behavior, highlights neurodevelopmental conditions with ...
Jordan E. Read +5 more
wiley +1 more source
Annals of Vascular Surgery - Brief Reports and Innovations, 2022 Objective: This case highlights the clinical consequences of elastin (ELN) arteriopathy, which affects the supravalvular aorta, the branches of the arch and pulmonary arterial branches.
Pradeep Pravinkumar Mistry +5 more
doaj
Supravalvular aortic stenosis. Echocardiographic features. [PDF]
Heart, 1975 The echocardiographic manifestations of segmental supravalvular aortic stenosis are described in 2 patients. The diagnosis was confirmed by cardiac catheterization in both and at operation in 1. A systematic echocardiographic approach to such patients is described.
Antoine Nasrallah, Michael R. Nihill
openaire +3 more sources
Dynamic simulation of aortic valve stenosis using a lumped parameter cardiovascular system model with flow regime dependent valve pressure loss characteristics [PDF]
arXiv, 2022 Valvular heart diseases are growing concern in impoverished parts of the world, such as Southern-Africa, claiming more than 31 % of total deaths related to cardiovascular diseases. The ability to model the effects of regurgitant and obstructive lesions on the valve body can assist clinicians in preparing personalised treatments.
arxiv