Results 11 to 20 of about 20,352 (198)

Marfan syndrome and schizophrenia : a case report and literature review

European Psychiatry, 2022
Introduction Marfan syndrome is an autosomal dominant systemic disorder with connective tissue defects in multiple organ systems. Cardinal manifestations of this syndrome involve the cardiovascular, the skeletal and the ocular system.
S. Dhakouani, R. Kammoun, C. Aissaoui, M. Karoui, F. Ellouz   +4 more
doaj   +1 more source

Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects

Prenatal Diagnosis, Volume 42, Issue 13, Page 1612-1621, December 2022., 2022
Abstract Objective Noninvasive Prenatal Diagnosis has recently been introduced for a limited number of monogenetic disorders. However, the majority of DNA diagnostics still require fetal material obtained using an invasive test. Recently, a novel technique, TRIC (Trophoblast Retrieval and Isolation from the Cervix), has been described, which collects ...
Marie van Dijk, Souad Boussata, Dianta Janssen, Gijs Afink, Jiska Jebbink, Merel van Maarle, Esther Wortelboer, Angelique Kooper, Eva Pajkrt   +8 more
wiley   +1 more source

Fate of the distal aorta following root replacement in Marfan syndrome: a propensity score matched study

Frontiers in Cardiovascular Medicine, 2023
ObjectiveThe aortic root is the most frequent segment involved in Marfan syndrome. However, Marfan syndrome is a systemic hereditary connective tissue disorder, and knowledge regarding the outcomes of the native distal aorta after prophylactic aortic ...
Hao Liu, Suwei Chen, Congcong Luo, Congcong Luo, Yongliang Zhong, Zhiyu Qiao, Lizhong Sun, Junming Zhu   +7 more
doaj   +1 more source

Decoding of Quantum Data-Syndrome Codes via Belief Propagation [PDF]

in Proc. IEEE International Symposium on Information Theory (ISIT), 2021, pp. 1552--1557, 2021
Quantum error correction is necessary to protect logical quantum states and operations. However, no meaningful data protection can be made when the syndrome extraction is erroneous due to faulty measurement gates. Quantum data-syndrome (DS) codes are designed to protect the data qubits and syndrome bits concurrently.
arxiv   +1 more source

A European update on transcatheter aortic valve implantation (TAVI) in the COVID era

Journal of Anatomy, Volume 242, Issue 1, Page 50-63, January 2023., 2023
A timely review of key Transcatheter Aortic Valve Implantation (TAVI) device trials delineated by surgical risk. Abstract Minimally invasive approaches for aortic valve replacement are now at the forefront of pathological aortic valve treatment. New trials show comparability of these devices to existing therapies, not only in high‐risk surgical cohorts
Ishan Antony, Hyab Mehari Abraha, Aamir Hameed, Claire Conway   +3 more
wiley   +1 more source

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Molecular Genetics & Genomic Medicine, 2020
Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in ...
Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié   +13 more
doaj   +1 more source

Genetic and molecular architecture of familial hypercholesterolemia

Journal of Internal Medicine, Volume 293, Issue 2, Page 144-165, February 2023., 2023
Abstract Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its important risk of premature atherosclerosis and cardiovascular disease, familial hypercholesterolemia (FH) is still largely underdiagnosed worldwide. It is one of the most frequently inherited diseases due to mutations, for autosomal dominant forms, in ...
Marianne Abifadel, Catherine Boileau
wiley   +1 more source

No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. [PDF]

PLoS ONE, 2014
AIMS:Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. In the FBN1(C1039G/+) Marfan mouse model, losartan decreases aortic root dilatation.
Romy Franken, Stijntje Hibender, Alexander W den Hartog, Teodora Radonic, Carlie J M de Vries, Aeilko H Zwinderman, Maarten Groenink, Barbara J M Mulder, Vivian de Waard   +8 more
doaj   +1 more source

A 3D Geometric Morphometric Analysis of the Palatal Morphology in Marfan’s Syndrome: A Preliminary Study [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Marfan’s Syndrome (MS) is a multisystem disorder of the connective tissue. A number of oral manifestations and craniofacial characteristics show a strong correlation with MS.
Giuseppina Laganà, Nicolò Venza, Valeria Paoloni, Fabio Bertoldo, Giovanni Ruvolo, Paola Cozza   +5 more
doaj   +1 more source

Compression Instabilities of Tissues with Localized Strain Softening [PDF]

M. Destrade, J. Merodio. Compression instabilities of tissues with localized strain softening, International Journal of Applied Mechanics, 3 (2011) 69-83, 2013
The stress-strain relationship of biological soft tissues affected by Marfan's syndrome is believed to be non-convex. More specifically, Haughton and Merodio recently proposed a strain-energy density leading to localized strain softening, in order to model the unusual mechanical behavior of these isotropic, incompressible tissues.
arxiv   +1 more source