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Successful treatment of post-pericardiotomy syndrome via C1 inhibitor replacement therapy in a hereditary angioedema patient with Marfan syndrome
CONCLUSIONS: We emphasize that in patients with hereditary angioedema undergoing this treatment, care should be taken in terms of complications that may be associated with the disease even if short-term prophylaxis is given before operations and that longer-term use of C1 inhibitor concentrate has a place in treatment.PMID:37114700 | DOI:10.24953/turkjped.2022.637
Source: The Turkish Journal of Pediatrics - April 28, 2023 Category: Pediatrics Authors: Ezgi Topy ıldız Handan Duman Şenol Figen G ülen Esen Demir Nihal Mete G ökmen Source Type: research

Altered TGF- β endocytic trafficking contributes to the increased signaling in Marfan syndrome
We examined molecular components involved in clathrin- (SARA, SMAD2) and caveolin-1- (SMAD7, SMURF2) dependent endocytosis. Marfan VSMC showed higher recruitment of SARA and SMAD2 to membranes and their increased interaction with TGF-β receptor II, as well as higher colocalization of SARA with the early endosome marker EEA1. We assessed TGF-β internalization using a biotinylated ligand (b-TGF-β), which colocalized equally with either EEA1 or CAV-1 in VSMC from Marfan patients and controls. However, in Marfan cells, colocalization of b-TGF-β with SARA and EEA1 was increased and accompanied by decreased colocalization wi...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - December 1, 2017 Category: Molecular Biology Source Type: research

Intrinsic left ventricular impairment in Marfan syndrome: A systematic review and meta ‐analysis
ConclusionsIntrinsic cardiac impairment was observed in MFS. MFS patients showed the larger left ventricular volume and poorer left ventricular function than matched controls. Considering the potentially adverse impact on cardiac function, intrinsic cardiac impairment in MFS should be considered during the cardiac surgery.
Source: Journal of Cardiac Surgery - September 25, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Hao Xu, Ning Ma, Ruiming Guo, Hong Luo, Liang Zhang, Donghai Liu, Suhua Zang, Lixuan Zhao, Xin Zhang, Chenhui Qiao Tags: REVIEW Source Type: research

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
This article is protected by copyright. All rights reserved
Source: Human Mutation - February 26, 2016 Category: Genetics & Stem Cells Authors: Aline Verstraeten, Maaike Alaerts, Lut Laer, Bart Loeys Tags: Review Source Type: research