Results 11 to 20 of about 744,244 (413)

Modeling the mitral valve [PDF]

open access: yesInternational Journal for Numerical Methods in Biomedical Engineering, 2019
AbstractThis work is concerned with modeling and simulation of the mitral valve, one of the four valves in the human heart. The valve is composed of leaflets, the free edges of which are supported by a system of chordae, which themselves are anchored to the papillary muscles inside the left ventricle.
Alexander D. Kaiser   +2 more
openaire   +6 more sources

The assessment of mitral valve disease: a guideline from the British Society of Echocardiography

open access: yesEcho Research and Practice, 2021
Mitral valve disease is common. Mitral regurgitation is the second most frequent indication for valve surgery in Europe and despite the decline of rheumatic fever in Western societies, mitral stenosis of any aetiology is a regular finding in all echo ...
Shaun Robinson   +7 more
semanticscholar   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings   +1 more
wiley   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer   +16 more
wiley   +1 more source

Mitral valve repair [PDF]

open access: yesF1000Research, 2016
Mitral regurgitation (MR) is the most common valvular heart disease in the Western world. The MR can be either organic (mainly degenerative in Western countries) or functional (secondary to left ventricular remodeling in the context of ischemic or idiopathic dilated cardiomyopathy).
Pozzoli, Alberto   +2 more
openaire   +3 more sources

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia   +2 more
wiley   +1 more source

Clinical overview on RASopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Parachute mitral valve

open access: yesAnnals of Cardiac Anaesthesia, 2021
An asymptomatic 30-year-old male was referred for a transthoracic echocardiogram because of a systolic murmur that was noted on a pre-employment physical exam. Transthoracic imaging demonstrated a single papillary muscle from which the chordae of both mitral valve leaflets were attached.
Nicholas Suraci   +3 more
openaire   +4 more sources

A Bayesian homogeneity test for comparing Poisson populations

open access: yesApplied Stochastic Models in Business and Industry, Volume 38, Issue 6, Page 1158-1171, November/December 2022., 2022
Abstract For a wide class of daily applications in industrial quality control, there may be interest in comparing several Poisson means. A large catalogue of frequentist procedures for this hypothesis testing problem is available. However, some common drawbacks of them are their low power, interpretation of the p$$ p $$‐values for multiple comparison ...
Francisco Javier Girón   +2 more
wiley   +1 more source

Global, Regional, and National Burden of Calcific Aortic Valve and Degenerative Mitral Valve Diseases, 1990–2017

open access: yesCirculation, 2020
Supplemental Digital Content is available in the text. Background: Nonrheumatic valvular diseases are common; however, no studies have estimated their global or national burden.
Simon R Yadgir   +66 more
semanticscholar   +1 more source

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