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Marfans syndrome

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https://www.readbyqxmd.com/read/29782280/-left-ventricular-systolic-dysfunction-in-young-subjects-with-marfanoid-habitus
#1
E V Timofeev, E G Malev, E V Zemtsovskiy
BACKGROUND: In Marfan syndrome early impairment of left ventricular systolic function has been reported. Our aim was to evaluate the left ventricular systolic function in young adults with Marfanoid habitus (MH) (includes arachnodactylia, dolichostenomelia, high palate, deformations of the thorax). METHODS: We studied 137 young subjects (mean age 21.3±1.5) - 58 male, 79 female. Transthoracic echocardiography (Vivid 7 Dimension, GE) was performed in 24 asymptomatic MH with excluded Marfan syndrome and 42 healthy control subjects...
2018: Kardiologiia
https://www.readbyqxmd.com/read/29780713/novel-reconstruction-of-a-vascular-aneurysm-in-marfan-syndrome
#2
Xun Yuan, Andreas Mitsis, Christoph A Nienaber
No abstract text is available yet for this article.
2018: Journal of Visualized Surgery
https://www.readbyqxmd.com/read/29778849/influence-of-aortic-dilation-on-the-regional-aortic-stiffness-of-bicuspid-aortic-valve-assessed-by-4-dimensional-flow-cardiac-magnetic-resonance-comparison-with-marfan-syndrome-and-degenerative-aortic-aneurysm
#3
Andrea Guala, Jose Rodriguez-Palomares, Lydia Dux-Santoy, Gisela Teixido-Tura, Giuliana Maldonado, Laura Galian, Marina Huguet, Filipa Valente, Laura Gutiérrez, Teresa González-Alujas, Kevin M Johnson, Oliver Wieben, Augusto Sao Avilés, David Garcia-Dorado, Arturo Evangelista
OBJECTIVES: This study sought to ascertain whether patients with a bicuspid aortic valve (BAV) have an intrinsic alteration in regional aortic stiffness compared with patients with tricuspid aortic valve (TAV) and Marfan syndrome (MFS) patients with similar aortic sizes, as well as to assess the influence of ascending aorta (AAo) dilation on regional stiffness parameters in BAV patients. BACKGROUND: Imaging biomarkers as predictors of BAV, MFS, and degenerative AAo aneurysms in TAV patients (DA-TAV) are lacking...
May 11, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29768367/the-phenotypic-heterogeneity-of-patients-with-marfan-related-disorders-and-their-variant-spectrums
#4
Go Hun Seo, Yoon-Myung Kim, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with suspected MFS and LDS were investigated as a retrospective manner. In patients with suspected MFS patients, genetic testing was conducted in half of 44 patients who met the revised Ghent criteria clinically and half of 39 patients who did not meet these criteria...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29765495/effect-of-the-antioxidant-lipoic-acid-in-aortic-phenotype-in-a-marfan-syndrome-mouse-model
#5
Maria C Guido, Victor Debbas, Vera M Salemi, Elaine R Tavares, Thayna Meirelles, Thaís L S Araujo, Patricia Nolasco, Julio C A Ferreira-Filho, Celso K Takimura, Lygia V Pereira, Francisco R Laurindo
Marfan syndrome (MFS) cardiovascular manifestations such as aortic aneurysms and cardiomyopathy carry substantial morbidity/mortality. We investigated the effects of lipoic acid, an antioxidant, on ROS production and aortic remodeling in a MFS mgΔloxPneo mouse model. MFS and WT (wild-type) 1-month-old mice were allocated to 3 groups: untreated, treated with losartan, and treated with lipoic acid. At 6 months old, echocardiography, ROS production, and morphological analysis of aortas were performed. Aortic ROS generation in 6-month-old MFS animals was higher at advanced stages of disease in MFS...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#6
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29758081/correction-sex-pregnancy-and-aortic-disease-in-marfan-syndrome
#7
Marjolijn Renard, Laura Muiño-Mosquera, Elise C Manalo, Sara Tufa, Eric J Carlson, Douglas R Keene, Julie De Backer, Lynn Y Sakai
[This corrects the article DOI: 10.1371/journal.pone.0181166.].
2018: PloS One
https://www.readbyqxmd.com/read/29747365/-a-preliminary-observation-of-implanting-a-double-eyelet-capsular-tension-ring-in-eyes-with-serious-lens-subluxation
#8
B Zhang, Y Q Huang, Q Z Cao, J Q Lin, Y Y Wang, D Y Zheng
Objective: To evaluate the clinical efficiency of an iris hook combined with a modified double-eyelet capsular tension ring (MCTR) in the treatment of serious lens subluxation. Methods: Retrospective case series. A total of 16 patients (20 eyes) with serious lens subluxation were enrolled in Zhongshan Ophthalmic Center from March 2016 to December 2016. All the patients had an iris hook inserted to support the capsule during the phacoemulsification. Then an MCTR was implanted and sutured onto the sclera. Both intraoperative and postoperative complications, such as posterior capsular opacification and macular edema, were recorded...
May 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29732924/identification-and-characterization-of-a-novel-fbn1-gene-variant-in-an-extended-family-with-variable-clinical-phenotype-of-marfan-syndrome
#9
Mahmut Cerkez Ergoren, Burcu Turkgenc, Kerem Teralı, Orhan Rodopluu, Aline Verstraeten, Lut Van Laer, Gamze Mocan, Bart Loeys, Omer Tetik, Sehime G Temel
No abstract text is available yet for this article.
May 6, 2018: Connective Tissue Research
https://www.readbyqxmd.com/read/29707410/a-2-year-old-child-with-bilateral-ectopis-lentis-and-a-novel-fbn1-gene-variant-cys129ser
#10
Ahmed N Mohammad, Paldeep S Atwal
Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for Marfan syndrome diagnosis helped in resolving some of the confusion, especially in younger children. We report on a case of bilateral ectopia lentis in a 2-year-old child with a normal echocardiogram. FBN1 sequencing revealed a novel likely pathogenic variant described as c...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29698085/analysis-of-corneal-astigmatism-before-surgery-in-chinese-congenital-ectopia-lentis-patients
#11
Yichi Zhang, Guangming Jin, Charlotte Aimee Young, Qianzhong Cao, Junxiong Lin, Jianqiang Lin, Yiyao Wang, Danying Zheng
Purpose This study aims to describe the characteristics of corneal astigmatism before surgery in congenital ectopia lentis (CEL) patients. Methods This retrospective study reviewed 306 CEL patients from 1st January 2006, to 31st December 2015. One eye was randomly selected from each patient when the patient had bilateral EL. The influence of sex, laterality, and Marfan syndrome on corneal astigmatism in different age subgroups was evaluated and compared. The correlation between age and corneal astigmatism was evaluated...
April 26, 2018: Current Eye Research
https://www.readbyqxmd.com/read/29696429/the-pulmonary-artery-in-pediatric-patients-with-marfan-syndrome-an-underestimated-aspect-of-the-disease
#12
Veronika C Stark, Michael Huemmer, Jakob Olfe, Goetz C Mueller, Rainer Kozlik-Feldmann, Thomas S Mir
Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children. Due to the similarities in tissue composition of the aortic and pulmonary root, MPA dilatation may cause complications and require treatment...
April 25, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29688450/morphological-features-of-the-thoracic-aorta-and-supra-aortic-branches-in-patients-with-acute-type-a-aortic-dissection-in-china
#13
Jin-Lin Wu, Liang Zhang, Jun-Tao Qiu, Cun-Tao Yu
OBJECTIVES: This study aimed to investigate the morphological characteristics of the dissected thoracic aorta and brachiocephalic arteries within the Chinese population. METHODS: A retrospective analysis of computed tomography scans of 387 patients with acute Type A aortic dissection was carried out. The dimensions of the thoracic aorta at multiple levels and other imaging characteristics were studied. RESULTS: The patients with a maximum diameter ≥55 mm accounted for less than one-third of the population...
April 24, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29687491/repair-of-an-aneurysm-of-the-ascending-aorta-and-arch-in-an-infant-with-loeys-dietz-syndrome
#14
Pratiksha Jaiswal, Varun Shetty, Ebrahim Patel, Deviprasad Shetty
Aortic aneurysms in childhood are rare disease entities and are usually seen in patients with genetic connective tissue disorders such as Marfans, Ehler-Danlos, and Loeys-Dietz syndrome (LDS). Patients affected with LDS present early in life and have a rapid disease progression. We report a case of repair of an ascending and aortic arch aneurysm in an infant with Loeys-Dietz syndrome.
May 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#15
Michal Schäfer, Lorna P Browne, Uyen Truong, James J Jaggers, Max B Mitchell, Ladonna Malone, Gareth Morgan, Kathryn Chatfield, Daniel McLennan, Harma Turbendian, Danial Vargas, Brian Fonseca, Michael DiMaria, Anar Shah, Margaret P Ivy, Alex J Barker, Kendall S Hunter, Neil Wilson, D Dunbar Ivy, David N Campbell
OBJECTIVES: Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV. METHODS: Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging...
April 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29682122/surgical-treatment-of-a-left-axillary-arterial-aneurysm-with-marfan-syndrome-by-combining-two-skin-incisions
#16
Hiroshi Sato, Syuichi Naraoka
An axillary arterial aneurysm is a rare disorder, with few surgical cases reported to date. Here we report the case of a left axillary arterial aneurysm associated with Marfan syndrome. A 44-year-old female with Marfan syndrome presented with numbness of the left upper limb and a pulsatile mass on the left chest. A computed tomography scan revealed a highly enlarged and tortuous left axillary arterial aneurysm. We performed a graft replacement and resection of the aneurysm with two skin incisions. After the surgery, the blood flow to the patient's left upper limb was confirmed, and the neurological symptoms improved significantly...
March 25, 2018: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29682117/characterization-of-smad2-activation-in-human-thoracic-aortic-aneurysm
#17
Hayato Fukuda, Hiroki Aoki, Shohei Yoshida, Satoru Tobinaga, Hiroyuki Otsuka, Takahiro Shojima, Kazuyoshi Takagi, Yoshihiro Fukumoto, Hidetoshi Akashi, Seiya Kato, Hiroyuki Tanaka
Objective : Thoracic aortic aneurysm (TAA) reflects the local expansion of the thoracic aorta; the underlying causal molecular mechanism of TAA is not well understood. Recent studies have shown the importance of transforming growth factor beta (TGFβ) signaling in Marfan and Loeys-Dietz syndromes; however, its role in non-familial, non-syndromic TAA remains unclear. Materials and Methods : We performed histochemical and immunohistochemical analyses for activated (phosphorylated) SMAD2 (P-SMAD2) as an indicator of TGFβ signaling activities in the ascending TAA tissue as well as in the ascending aortic tissue with a normal diameter obtained from 7 patients without any clinical findings suggesting familial or syndromic TAA...
March 25, 2018: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29681958/personal-resources-and-satisfaction-with-life-in-marfan-syndrome-patients-with-aortic-pathology-and-in-abdominal-aortic-aneurysm-patients
#18
Michał-Goran Stanišić, Teresa Rzepa, Alicja Gawrońska, Przemysław Kubaszewski, Maciej Putowski, Sebastian Stefaniak, Bartłomiej Perek
Introduction: Whether or not the source of aortic pathology is Marfan syndrome (MFS) or other processes leading to development of abdominal aorta aneurysms (AAA), the awareness of pathology may lead to an emotional upset and low assessment of satisfaction with life. Aim: To assess, in regard to MFS patients with aortic pathology and to abdominal aortic aneurysm patients: 1) whether or not self-efficacy (SE) and health locus of control (HLoC) affect the patients' satisfaction with life; 2) whether the two groups of patients differ in terms of mental dispositions...
March 2018: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/29671248/executive-function-and-quality-of-life-in-individuals-with-marfan-syndrome
#19
Ileana Ratiu, Thomas B Virden, Hope Baylow, Melissa Flint, Mitra Esfandiarei
PURPOSE: Marfan syndrome (MFS) is a connective tissue disorder that affects skeletal, ocular, pulmonary, cardiovascular, and central nervous systems. Psychological and physiologic symptoms may lead to diminished quality of life (QoL) in individuals with MFS compared with healthy individuals. Currently, there is little evidence regarding the impact of MFS on executive function and QoL. This study examined perceptions of executive function and QoL among persons with MFS. METHOD: A total of 318 participants with MFS completed surveys assessing perceptions of executive function abilities and QoL...
April 18, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29666143/truncated-c-terminus-of-fibrillin-1-induces-marfanoid-progeroid-lipodystrophy-mpl-syndrome-in-rabbit
#20
Mao Chen, Bing Yao, Qiangbing Yang, Jichao Deng, Yuning Song, Tingting Sui, Lina Zhou, HaoBing Yao, Yuanyuan Xu, Hongsheng Ouyang, Daxin Pang, Zhanjun Li, Liangxue Lai
Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the FBN1 gene. Here, we describe the generation of a rabbit MPL model with C-terminal truncation of fibrillin-1 using a CRISPR/Cas9 system...
April 9, 2018: Disease Models & Mechanisms
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