Results 31 to 40 of about 19,355 (211)
Sox6 expression is elevated in hypertensive conditions and promotes vascular smooth muscle cell phenotypic switching through autophagy activation. Using gain‐ and loss‐of‐function approaches both in vitro and in vivo, we demonstrate that Sox6 regulates blood pressure and vascular remodeling, highlighting its potential as a novel therapeutic target for ...
Qianhui Ling+7 more
wiley +1 more source
ABSTRACT A 24‐year‐old male with Marfan syndrome was admitted following an episode of ventricular fibrillation (VF) during exercise. He had previously undergone multiple aortic surgical procedures for symptomatic aortic regurgitation and an ascending aortic false aneurysm.
Shota Tokuno+2 more
wiley +1 more source
Background Marfan syndrome is a genetic disease, presenting with dysfunction of connective tissues leading to lesions in the cardiovascular and skeletal muscle system.
Kálmán Benke+13 more
doaj +1 more source
We detect the risk factors and image characteristics of incidentally detected IAAD. Independent risk factors of IAAD included fatty liver and smoking. In the ultrasound findings of IAAD, an intimal flap was frequently observed. In the CT scan, displacement of intimal calcifications was frequently observed. For suspected IAAD, the abdominal aorta should
Hiromasa Tsubouchi+15 more
wiley +1 more source
Neonatal Marfan Syndrome [PDF]
Abstract Objective The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement. Study Design We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of ...
Tognato E.+9 more
openaire +4 more sources
Management of an elderly patient with nonsyndromic TGFBR1‐related aortopathy: A case report
Key Clinical Message Genetic variants associated with hereditary TAAD may contribute to nonsyndromic TAAD. We present the case of a 72‐year‐old man with nonsyndromic TAAD undergoing prophylactic surgery after a gene panel test revealed a pathogenic ...
Hitomi Aono‐Setoguchi+7 more
doaj +1 more source
Marfan's syndrome: an overview [PDF]
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 +6 more sources
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. [PDF]
Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and dissection are the major determinants of premature death in untreated patients.
Gao Guo+6 more
doaj +1 more source
Corneal characteristics in children with Marfan syndrome with or without ectopia lentis
Children with Marfan Syndrome who have dislocation of the natural lens of the eye also have abnormalities of eye shape and size. These abnormalities are not apparent in Marfan's children who do not have lens dislocation, implying that the children with lens dislocation have a more severe genetic defect of fibrillin proteins.
Marisa O'Brien, Lawrence Tychsen
wiley +1 more source
Marfan Syndrome: A Case Report
Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1.
Rajendran Ganesh+2 more
doaj +1 more source