Results 1 to 10 of about 15,680 (162)
Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome [PDF]
Molecular Therapy: Nucleic AcidsThis 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 +7 more
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Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome [PDF]
Frontiers in PediatricsMarfan syndrome (MFS) is a multisystem connective tissue disorder affecting the cardiovascular, ocular, and skeletal systems. We report a case of a 13.5-year-old boy who presented with excessive linear growth.
Xiaoyu Qiao +11 more
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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 +3 more
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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 +2 more
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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 +9 more
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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 ...
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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 +2 more
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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 +11 more
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, 2023 Abstract: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, involving the cardiovascular, ocular, and skeletal systems, as well as the lungs, dura, and skin. Cardiovascular complications, including aortic root dilatation, aortic dissection and rupture, mitral valve prolapse, mitral and/or aortic valve regurgitation, begin in
Vanhoenacker, Filip +2 more
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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 +6 more
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