Results 21 to 30 of about 35,494 (256)
No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. [PDF]
PLoS ONE, 2014 AIMS:Patients with Marfan syndrome have an increased risk of life-threatening aortic complications, mostly preceded by aortic dilatation. In the FBN1(C1039G/+) Marfan mouse model, losartan decreases aortic root dilatation.
Romy Franken +8 more
doaj +1 more source
Stem Cell Research, 2021 Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome
Suihan Wu +3 more
doaj +1 more source
Biomechanical and biochemical properties of the thoracic aorta in warmblood horses, Friesian horses, and Friesians with aortic rupture [PDF]
, 2015 Background: Thoracic aortic rupture and aortopulmonary fistulation are rare conditions in horses. It mainly affects Friesian horses. Intrinsic differences in biomechanical properties of the aortic wall might predispose this breed.
Chiers, Koen +10 more
core +2 more sources
Diagnosis and Management of Marfan Syndrome
Majalah Kardiologi Indonesia, 2014 Background: Marfan syndrome is an autosomal dominant disorder of connective tissue, involving cardiovascular, ocular, skeletal and skin, pulmonary, and dura mater.
Andi Mahavira, Bambang B Siswanto
doaj +1 more source
Genetic testing in Marfan syndrome [PDF]
, 2016 Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core +1 more source
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations
Scientific Reports, 2018 Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported.
F. Extramiana +16 more
doaj +1 more source
BMC Oral Health, 2019 Background Aim of the study was to evaluate the gelatinolytic activity in the saliva and gingival crevicular fluid from a sample group of subjects with Marfan syndrome. Methods Two groups were analyzed in this case-control study.
Giuseppina Laganà +5 more
doaj +1 more source
Twenty years' follow-up of a family with Marfan syndrome: A case series
Heart Views, 2021 Marfan syndrome is a rare connective tissue disorder manifesting with cardiovascular pathologies which are also the leading cause of death. Herein, we present the past 20 years follow up of a family with 17 members afflicted with Marfan syndrome.
Niloufar Valizadeh +4 more
doaj +1 more source
Pectus updates and special considerations in Marfan syndrome. [PDF]
, 2018 Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome.
Child, A, Fraser, S, Hunt, I
core +2 more sources
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources