Results 11 to 20 of about 30,022 (221)

Marfan's syndrome [PDF]

The Lancet, 2005
1978 www.thelancet.com Vol 366 December 3, 2005 Marfan’s syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance. Approximately one in every 5000 individuals is affected, though this figure is probably an underestimate. The condition shows no predilection for any particular race or geographical background.
Nicola C Y, Ho, Joseph R, Tran, Arsun, Bektas   +2 more
exaly   +8 more sources

Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome [PDF]

Molecular Therapy: Nucleic Acids
This study investigated the potential of eccentric training in attenuating the deleterious effects of Marfan syndrome on skeletal muscles. Marfan syndrome and wild-type mice were divided into a trained and a control group; the former performed a downhill
Audrei R. Santos, Marcelo G. Pereira, Andrei Rozanski, Cesar S. Fuziwara, Tabata L. Nascimento, Lygia V. Pereira, Marcelo S. Aoki, Elen H. Miyabara   +7 more
doaj   +2 more sources

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome [PDF]

New England Journal of Medicine, 2008
Background: Progressive enlargement of the aortic root, leading to dissection, is the main cause of premature death in patients with Marfan's syndrome. Recent data from mouse models of Marfan's syndrome suggest that aortic-root enlargement is caused by ...
Brooke, Benjamin S., Dietz, Harry C., Habashi, Jennifer P., Judge, Daniel P., Loeys, Bart, Patel, Nishant   +5 more
core   +4 more sources

Atenolol versus losartan in children and young adults with Marfan's syndrome [PDF]

New England Journal of Medicine, 2014
BACKGROUND : Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, the current standard therapy in most centers.
Atz, A.M., Backer, J. de, Benson, D.W., Bradley, T.J., Braverman, A.C., Chen, S., Colan, S.D., Dietz, H.C., et al., Gelb, B.D., Grossfeld, P.D., Klein, G.L., Lacro, R.V., Lai, W.W., Levine, J.C., Liou, A., Loeys, B.L., Mahony, L., Markham, L.W., Olson, A.K., Paridon, S.M., Pearson, G.D., Pemberton, V.L., Pierpont, M.E., Pyeritz, R.E., Radojewski, E., Roman, M.J., Sharkey, A.M., Sleeper, L.A., Stylianou, M.P., Tierney, E.S., Wechsler, S.B., Yetman, A.T., Young, L.T.   +33 more
core   +4 more sources

Could the Phenotypic Outcomes of Genetic Variability in Cells Operating in Mechanically Dynamic Environments be Influenced by a Disrupted "Cell-ECM" Relationship? Using Cystic Fibrosis and Marfan Syndrome as an Example. [PDF]

Bioessays
The “Cell‐Extracellular Matrix Unit” in a mechanically active environment (Centre). Mutations in ECM molecules such as fibrillin‐1 can lead to Marfan Syndrome (A), while mutations in the cellular CFTR can lead to Cystic Fibrosis (B). A combination of such mutations without a clinical phenotype alone could also lead to disease (C). ABSTRACT Diseases due
Hart DA.
europepmc   +2 more sources

Aortic aneurysm and non-Hodgkin’s lymphoma in Marfan syndrome [PDF]

Turkish Journal of Hematology, 2009
The combination of Marfan syndrome with lymphoma is extremely rare. This report describes a case of Marfan syndrome who presented with chest discomfort and was diagnosed to have an aortic aneurysm and an additional incidental mediastinal mass that on ...
Sujoy Ghosh, Subrata Ghosh, Sandip Kumar Ghosh   +2 more
doaj   +1 more source

Determinants of fatigue in patients with Marfan syndrome: a study using PROMS [PDF]

Orphanet Journal of Rare Diseases
Background Fatigue is often reported by individuals with Marfan syndrome (MFS). However, the determinants of fatigue and its impact on the daily lives of patients with MFS remain poorly understood.
Ines Cavalier, Leslie Toko Kamga, Laurence Morin, Laurence Bal, Laurence Faivre, Guillaume Jondeau, Viet-Thi Tran, Olivier Milleron   +7 more
doaj   +2 more sources

Marfan syndrome [PDF]

Journal of Pharmacy And Bioallied Sciences, 2017
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the ...
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi   +3 more
  +12 more sources

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

Molecular Genetics & Genomic Medicine, 2023
Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling ...
Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro   +9 more
doaj   +1 more source

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Molecular Genetics & Genomic Medicine, 2021
Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien   +11 more
doaj   +1 more source