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Long-term outcomes after aortic root replacement for patients with Marfan syndrome
CONCLUSIONS: For patients with Marfan syndrome and aortic disease, ARR can be safely performed and results in low operative mortality and favorable long-term survival. Young and female patients have a higher risk for late death and reoperation. To prevent AD, surgical intervention should be promptly implemented following the diagnosis of aortic sinus dilation.PMID:35070362 | PMC:PMC8743404 | DOI:10.21037/jtd-21-577
Source: Journal of Thoracic Disease - January 24, 2022 Category: Respiratory Medicine Authors: Yu Zhu Zhao Jian Ruiyan Ma Yong Wang Yingbin Xiao Source Type: research

Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G & gt;A p.0 variant in FBN1
Eur J Med Genet. 2022 Sep 1:104576. doi: 10.1016/j.ejmg.2022.104576. Online ahead of print.ABSTRACTMarfan Syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Early Onset Marfan Syndrome is at the severe end of the Marfan syndrome spectrum and is frequently associated with variants in exons 24-32 of the FBN1 gene. To the best of our knowledge, this is the first molecularly confirmed patient from Sub-Saharan Africa with Early Onset Marfan Syndrome who presented with tall stature, arachnodactyly, multivalvular insufficiency and ectopia lentis. Sequencing analysis of FBN1 gene rev...
Source: European Journal of Medical Genetics - September 4, 2022 Category: Genetics & Stem Cells Authors: Ronald M Mbwasi Alessandra Maugeri Helvi N Joel Adnan Sadiq Bilal Ahmad Ben Cj Hamel Source Type: research

Fluoroquinolones and Risk of Aortic Aneurysm or Dissection in Patients With Congenital Aortic Disease and Marfan Syndrome
CONCLUSIONS: Fluoroquinolone use was not associated with an increased risk of AA/AD in patients with congenital aortic disease, including Marfan syndrome. More evidence is required for a fluoroquinolone pharmacovigilance plan in these patients.PMID:36823078 | DOI:10.1253/circj.CJ-22-0682
Source: Circulation Journal - February 23, 2023 Category: Cardiology Authors: Shao-Wei Chen Chia-Pin Lin Yi-Hsin Chan Victor Chien-Chia Wu Yu-Ting Cheng Ying-Chang Tung Fu-Chih Hsiao Dong-Yi Chen Kuo-Chun Hung An-Hsun Chou Pao-Hsien Chu Source Type: research

Genetic Testing of the FBN1 Gene in Chinese Patients with Marfan/Marfan-like Syndrome.
Abstract Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified. In addition, most MFS patients with aortic disease (62%) had a truncating or splicing mutation. These results expand the FBN1 mutation sp...
Source: International Journal of Clinical Chemistry - May 23, 2016 Category: Chemistry Authors: Yang H, Luo M, Chen Q, Fu Y, Zhang J, Qian X, Sun X, Fan Y, Zhou Z, Chang Q Tags: Clin Chim Acta Source Type: research