Results 41 to 50 of about 19,820 (226)

Online Personal Training in Patients With Marfan Syndrome: A Randomized Controlled Study of Its Impact on Quality of Life and Physical Capacity

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population.
Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau, Damien Vitiello   +4 more
doaj   +1 more source

Marfan's syndrome: an overview [PDF]

Sao Paulo Medical Journal, 2010
Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a ...
Yuan, Shi-Min, Jing, Hua
openaire   +5 more sources

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

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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

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

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

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

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