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Total 715932 results found since Jan 2013.

Association between marfan syndrome and oral health status: A systematic review and meta-analysis.
CONCLUSIONS: Patients diagnosed with Marfan's syndrome do not seem to have worsened oral health status. Due to the high number of patients with Marfan's syndrome that have prosthetic heart valves, an adequate dental monitoring as well as a strict maintenance therapy program should be implemented. PMID: 31232392 [PubMed - as supplied by publisher]
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - June 26, 2019 Category: ENT & OMF Tags: Med Oral Patol Oral Cir Bucal Source Type: research

A synonymous mutation in exon 39 of FBN1 causes exon skipping leading to Marfan syndrome.
Abstract Marfan syndrome is a heritable autosomal-dominant connective tissue disorder and it was typically caused by mutations in FBN1. However, the synonymous mutation was seldom recorded to be related to Marfan syndrome. Hereon, Multiplex ligation-dependent probe amplification failed to detect a copy number variant involving FBN1 but a synonymous mutation c.4773A > G (p.Gly1591Gly) was identified by NGS in exon 39. RNA was extracted from patient's aortic tissue and reverse polymerase chain reaction demonstrated the presence of a shortened mRNA transcript. Results of minigene models indicated that c.4773Aâ...
Source: Genomics - June 16, 2020 Category: Genetics & Stem Cells Authors: Li M, Lu X, Dong J, Yao Z, Wu Y, Rao H, Huang X, Chen X, Huang Y, Wu Y Tags: Genomics Source Type: research

Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome
Study Design. A retrospective study of the prospective cohort. Objective. To demonstrate the accurate distribution of the severity of scoliosis in patients with Marfan syndrome, and to identify the predictive physical features for progression of scoliosis in Marfan syndrome. Summary of Background Data. To date, no study has unveiled the risk factors for the progression of scoliosis in Marfan syndrome. Methods. We retrospectively obtained data from a prospective cohort of the Marfan syndrome clinic at our institute. We enrolled patients whose whole spine radiographs in the standing position were eva...
Source: Spine - July 22, 2021 Category: Orthopaedics Tags: DEFORMITY Source Type: research

Microvascular retinal changes in patients with Marfan syndrome
Conclusions. In patients with Marfan syndrome SS-OCTA imaging revealed microvascular differences in patients with lens subluxation and/or systemic vascular disease.PMID:35416099 | DOI:10.1080/02713683.2022.2066698
Source: Current Eye Research - April 13, 2022 Category: Opthalmology Authors: Sandra Rezar-Dreindl Katharina Eibenberger Reinhard Told Veronika Unterluggauer Stefan Sacu Ursula Schmidt-Erfurth Eva Stifter Source Type: research

Intercalary staphyloma after strabismus surgery in a patient with Marfan syndrome: A case report
Rationale: A few cases of intercalary staphyloma have been reported in patients with Marfan syndrome, but we believe that this is the first case of intercalary staphyloma in Marfan syndrome developing after strabismus surgery. Patient concerns: A 9-year-old girl diagnosed with Marfan syndrome visited a strabismus clinic for treatment of esotropia. Both eyes were aphakic and had 60 prism diopter esotropia at distance and 55 prism diopter esotropia at near. There were no corneal, conjunctival, or scleral abnormalities. Six millimeters of recession was performed on both medial rectus muscles via an inferonasal forn...
Source: Medicine - June 17, 2022 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Redox Dysregulation of Vascular Smooth Muscle Sirtuin-1 in Thoracic Aortic Aneurysm in Marfan Syndrome
CONCLUSIONS: Our novel findings strongly suggest a causal role of S-glutathionylation of SirT1 in the pathogenesis of TAA. Prevention or reversal of SirT1 rOPTM may be a novel therapeutic strategy to prevent TAA or TAA dissection/ruptures in individuals with Marfan syndrome, for which, thus far, no targeted therapy has been developed.PMID:37288573 | DOI:10.1161/ATVBAHA.123.319145
Source: Arteriosclerosis, Thrombosis and Vascular Biology - June 8, 2023 Category: Cardiology Authors: Enkhjargal Budbazar Sandra Sulser Ponce De Leon Yuko Tsukahara Hanxiao Liu Yuhao Huangfu Yu Wang Pedro Maria Seabra Xiaoqiu Yang Jena Goodman Xueping Wan Vipul Chitalia Jingyan Han Francesca Seta Source Type: research

The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations.
CONCLUSION: Losartan therapy in haploinsufficient Marfan patients increases biventricular end diastolic volume and stroke volume, furthermore, losartan also appears to ameliorate biventricular filling properties. PMID: 27704402 [PubMed - as supplied by publisher]
Source: Netherlands Heart Journal - October 3, 2016 Category: Cardiology Authors: den Hartog AW, Franken R, van den Berg MP, Zwinderman AH, Timmermans J, Scholte AJ, de Waard V, Spijkerboer AM, Pals G, Mulder BJ, Groenink M Tags: Neth Heart J Source Type: research

DPY-17 and MUA-3 Interact for Connective Tissue-Like Tissue Integrity in Caenorhabditis elegans: A Model for Marfan Syndrome
mua-3 is a Caenorhabditis elegans homolog of the mammalian fibrillin1, a monogenic cause of Marfan syndrome. We identified a new mutation of mua-3 that carries an in-frame deletion of 131 amino acids in the extracellular domain, which allows the mutants to survive in a temperature-dependent manner; at the permissive temperature, the mutants grow normally without obvious phenotypes, but at the nonpermissive temperature, more than 90% die during the L4 molt due to internal organ detachment. Using the temperature-sensitive lethality, we performed unbiased genetic screens to isolate suppressors to find genetic interactors of M...
Source: G3: Genes Genomes Genetics - July 15, 2015 Category: Genetics & Stem Cells Authors: Fotopoulos, P., Kim, J., Hyun, M., Qamari, W., Lee, I., You, Y.-J. Tags: Investigations Source Type: research

A group of patients with Marfan ’s syndrome, who have finger and toe contractures, displays tendons’ alterations upon an ultrasound examination: are these features common among classical Marfan patients?
This study provides evidence for other contractures’ localization, and for altered findings of the tendons in patients with Marfan syndrome and finger/toe contractures. These changes may be associated with structural modifications in connective tissue.
Source: Internal and Emergency Medicine - July 21, 2016 Category: Emergency Medicine Source Type: research

Economic and care considerations of Marfan syndrome.
Authors: Blankart CR, Milstein R, Rybczynski M, Schüler H, von Kodolitsch Y Abstract INTRODUCTION: Marfan syndrome is a rare multisystem disease of the connective tissue, which affects multiple organ systems. Advances in healthcare have doubled the life-expectancy of patients over the past three decades. To date, there is no comprehensive review that consolidates economic considerations and care for Marfan patients. AREAS COVERED: Present research suggests that there may be a link between treatment pattern, disease progression and economic costs of Marfan syndrome. It indicates that an early detection of the d...
Source: Expert Review of Pharmacoeconomics and Outcomes Research - September 25, 2016 Category: Health Management Tags: Expert Rev Pharmacoecon Outcomes Res Source Type: research