Results 61 to 70 of about 3,631,363 (269)

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life

Orphanet Journal of Rare Diseases
Background Children and adolescents with Marfan (MFS) and Loeys-Dietz (LDS) syndromes report chronic fatigue and reduced physical endurance, which significantly impact their health-related quality of life (HRQoL). We hypothesized that a tailored physical
Thomas Edouard, Fernanda Bajanca, Clara Flumian, Fabrice Marion-Latard, Clément Pradayrol, Aitor Guitarte, Maud Langeois, Philippe Khau Van Kien, Armelle Yart, Françoise Auriol, Eric Garrigue, Yves Dulac   +11 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Marfan Syndrome, Not Marfan’s Syndrome [PDF]

Circulation, 1999
To the Editor: I read with interest the case of infantile Marfan syndrome reported by Doroshow, Lin, and Milliken.1 But I wish they would not use the possessive form of Marfan syndrome. Use of eponyms for diseases is a common practice in medicine. It often conveys a nice sense of …
openaire   +1 more source

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

Orphanet Journal of Rare Diseases
Background This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL ...
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro   +10 more
doaj   +1 more source

Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Stiffer aortas are associated with a faster rate of aortic root (AoR) dilation and higher risk of aortic dissection in patients with Marfan syndrome.
Elif Seda Selamet Tierney, Sukyung Chung, Katie Jo Stauffer, Jerrid Brabender, Ronnie Thomad Collins, Robert Folk, Weidang Li, Ashlesh K. Murthy, Daniel Jerome Murphy, Mitra Esfandiarei   +9 more
doaj   +1 more source

Fate of distal aorta after frozen elephant trunk and total arch replacement for type A aortic dissection in Marfan syndrome

Journal of Thoracic and Cardiovascular Surgery, 2019
Objective: The use of the frozen elephant trunk technique for type A aortic dissection in Marfan syndrome is limited by the lack of imaging evidence for long‐term aortic remodeling.
Yu Chen, Wei-Guo Ma, Ai-Hua Zhi, Lingeng Lu, Jun Zheng, Wei Zhang, Yongmin Liu, Jun-Ming Zhu, J. Elefteriades, Li-Zhong Sun   +9 more
semanticscholar   +1 more source

Seminoma in Marfan's syndrome [PDF]

Postgraduate Medical Journal, 1979
Summary A patient with a testicular seminoma and Marfan's syndrome is described. The association is unlikely to be by chance alone, and an explanation in terms of either an associated congenital defect, or a minor chromosomal anomaly, is discussed.
A A, Epenetos, C H, Collis
openaire   +2 more sources

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Comparison between valve-sparing root replacement and Bentall procedure in patients with Marfan syndrome [PDF]

, 2019
Background: Bentall procedure is standard procedure for aortic root aneurysm or dissection in patients with Marfan syndrome. The purpose of this study was to evaluate whether valve-sparing root replacement (VSR) can be an alternative to Bentall ...
Eishi, Kiyoyuki, Taguchi, Hiroko, Tasaki, Yuichi, Yokose, Shogo, Matsumaru, Ichiro, Obase, Kikuko, Nakaji, Shun, Shimada, Takashi, Miyanaga, Tatsuya, Miura, Takashi, Takura, Masayuki   +10 more
core  

CASE REPORT ON MARFAN SYNDROME [PDF]

, 2017
Marfan syndrome is a spectrum of disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to FBN1 gene on chromosome 15, which codes for connective tissue ...
Sophiya .T. Varghese* , Catherin T J, Alan James, Sethu Sugathan, S. Hemalatha, K. Menaka and Dr. T. Sivakumar
core   +1 more source