Results 1 to 10 of about 29,720 (206)

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

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

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
openaire   +4 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

Combined spinal-epidural anesthetic management of delivery for marfan syndrome: Case report

Journal of Obstetric Anaesthesia and Critical Care, 2023
Pregnancy in a patient with Marfan syndrome is associated with risks, including cardiovascular complications. The hemodynamic changes of pregnancy during delivery are deleterious to Marfan syndrome patients.
Matea Malinovic, Kimberly Babiash, Felecia Newton   +2 more
doaj   +1 more source

Musculoskeletal diseases in Marfan syndrome: a nationwide registry study

Orphanet Journal of Rare Diseases, 2022
Background Marfan syndrome is associated with abnormalities in the musculoskeletal system including scoliosis, pectus deformities, protrusio acetabuli, and foot deformities.
Niels H. Andersen, Ellen-Margrethe Hauge, Thomas Baad-Hansen, Kristian A. Groth, Agnethe Berglund, Claus H. Gravholt, Kirstine Stochholm   +6 more
doaj   +1 more source

MARFAN'S SYNDROME [PDF]

British Journal of Ophthalmology, 1959
Abstract The case is presented of a 46-year-old Negro woman with the classic features of Marfan's syndrome: spider fingers, ectopia lentis, aneurysms of the sinuses of Valsalva, dilatation of the aortic ring, and aortic regurgitation. The occurrence of medial degeneration of the great vessels is now recognized to be the most important aspect of the ...
openaire   +4 more sources

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