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Peri-vascular adipose tissue attenuation on chest computed tomography in patients with Marfan Syndrome: a case series
CONCLUSION: These preliminary observations suggest that peri-vascular adipose tissue attenuation is unexpectedly high in patients with Marfan Syndrome, notwithstanding the normal aortic diameter at the time of computed tomography. Whether this observation may find a clinical use in suspected Marfan Syndrome or in predicting aortic complications in Marfan Syndrome is worth to be assessed in prospective studies.PMID:34747387 | DOI:10.23750/abm.v92iS1.11669
Source: Acta Bio-Medica : Atenei Parmensis - November 8, 2021 Category: General Medicine Authors: Domenico Tuttolomondo Massimo De Filippo Daniele Sartorio Francesco Nicolini Giampaolo Niccoli Nicola Gaibazzi Source Type: research
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels
Publication date: Available online 5 May 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Karina A. Zeyer , Dieter P. Reinhardt Fibrillins are the major components of microfibrils in the extracellular matrix of elastic and non-elastic tissues. They are multi-domain proteins, containing primarily calcium binding epidermal growth factor-like (cbEGF) domains and 8-cysteine/transforming growth factor-beta binding protein-like (TB) domains. Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and ot...
Source: Mutation Research Reviews in Mutation Research - June 17, 2015 Category: Genetics & Stem Cells Source Type: research
Changing strategies in aortic root reconstruction in Marfan syndrome
CONCLUSION: In Marfan syndrome, acute aortic rupture and dissection are the main contributors to mortality. Based on our results, the prophylactic aortic root reconstructions are reproducible and can be performed with great outcomes. Orv Hetil. 2021; 162(18): 696-704.PMID:33934084 | DOI:10.1556/650.2021.32080
Source: Orvosi Hetilap - May 2, 2021 Category: General Medicine Authors: Mikl ós Pólos Roland Stengl Cristina-Maria Şulea K álmán Benke Elektra Bartha Bence Ágg Ádám Koppányi Istv án Hartyánszky Andrea Sz ékely Endre N émeth Attila Kov ács B éla Merkely Zolt án Szabolcs Source Type: research
Quantification of aortic and cutaneous elastin and collagen morphology in Marfan syndrome by multiphoton microscopy
In this study, we have used an advanced noninvasive and label-free imaging technique, multiphoton microscopy to quantify fiber fragmentation, disorganization, and total volumetric density of aortic and cutaneous elastin and collagen in a mouse model of Marfan syndrome. Aorta and skin samples were harvested from Marfan and control mice aged 3-, 6- and 9-month. Elastin and collagen were identified based on two-photon excitation fluorescence and second-harmonic-generation signals, respectively, without exogenous label. Measurement of fiber length indicated significant fragmentation in Marfan vs. control. Fast Fourier transfor...
Source: Journal of Structural Biology - November 3, 2014 Category: Biology Source Type: research
Vascular Smooth Muscle Cell Phenotypic Changes in Patients With Marfan Syndrome.
CONCLUSIONS: In Marfan VSMC, both in tissue and in culture, there are variable TGF-β-dependent phenotypic changes affecting contractile proteins and collagen I, leading to greater cellular and extracellular matrix stiffness. Altogether, these alterations may contribute to the known aortic rigidity that precedes or accompanies Marfan's syndrome aneurysm formation.
PMID: 25593132 [PubMed - as supplied by publisher]
Source: Arteriosclerosis, Thrombosis and Vascular Biology - January 15, 2015 Category: Cardiology Authors: Crosas-Molist E, Meirelles T, López-Luque J, Serra-Peinado C, Selva J, Caja L, Del Blanco DG, Uriarte JJ, Bertran E, Mendizábal Y, Hernández V, García-Calero C, Busnadiego O, Condom E, Toral D, Castellà M, Forteza A, Navajas D, Sarri E, Rodríguez-Pa Tags: Arterioscler Thromb Vasc Biol Source Type: research
Characterization of pain, disability, and psychological burden in Marfan syndrome
This study aimed to characterize pain in a cohort of adults with Marfan syndrome and investigate demographic, physical, and psychological factors associated with pain and pain‐related disability. Two hundred and forty‐five participants (73% female, 89% non‐Hispanic white, 90% North American) completed an online questionnaire assessing clinical features of Marfan syndrome, pain severity, pain‐related disability, physical and mental health, depressive symptoms, pain catastrophizing, and insomnia. Eighty‐nine percent of respondents reported having pain with 28% of individuals reporting pain as a presenting symptom o...
Source: American Journal of Medical Genetics Part A - November 13, 2016 Category: Genetics & Stem Cells Authors: Traci J. Speed, Vani A. Mathur, Matthew Hand, Bryt Christensen, Paul D. Sponseller, Kayode A. Williams, Claudia M. Campbell Tags: Original Article Source Type: research
