Results 11 to 20 of about 19,355 (211)

Marfan syndrome [PDF]

open access: yesJournal 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
openaire   +4 more sources

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in ...
Bertrand Chesneau   +13 more
doaj   +1 more source

Orthodontic Perspective on Marfan Syndrome: A Unique Case Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2023
Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils.
Shiladitya Sil   +3 more
doaj   +1 more source

No beneficial effect of general and specific anti-inflammatory therapies on aortic dilatation in Marfan mice. [PDF]

open access: yesPLoS 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

Marfan Syndrome, Not Marfan’s Syndrome [PDF]

open access: yesCirculation, 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   +2 more sources

A 3D Geometric Morphometric Analysis of the Palatal Morphology in Marfan’s Syndrome: A Preliminary Study [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2018
Introduction: Marfan’s Syndrome (MS) is a multisystem disorder of the connective tissue. A number of oral manifestations and craniofacial characteristics show a strong correlation with MS.
Giuseppina Laganà   +5 more
doaj   +1 more source

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations

open access: yesScientific 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

Diagnosis and Management of Marfan Syndrome

open access: yesMajalah 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

Twenty years' follow-up of a family with Marfan syndrome: A case series

open access: yesHeart 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

Gelatinolytic activity in gingival crevicular fluid and saliva of growing patients with Marfan syndrome: a case-control study

open access: yesBMC 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

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